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| #fileformat=VCFv4.1 | |
| #fileDate=2019-03-01 | |
| #source=ClinVar | |
| #reference=GRCh38 | |
| #ID=<Description="ClinVar Variation ID"> | |
| #INFO=<ID=AF_ESP,Number=1,Type=Float,Description="allele frequencies from GO-ESP"> | |
| #INFO=<ID=AF_EXAC,Number=1,Type=Float,Description="allele frequencies from ExAC"> | |
| #INFO=<ID=AF_TGP,Number=1,Type=Float,Description="allele frequencies from TGP"> | |
| #INFO=<ID=ALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID"> | |
| #INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"> | |
| #INFO=<ID=CLNDNINCL,Number=.,Type=String,Description="For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"> | |
| #INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"> | |
| ##INFO=<ID=CLNDISDBINCL,Number=.,Type=String,Description="For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"> | |
| #INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression."> | |
| #INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="ClinVar review status for the Variation ID"> | |
| #INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant"> | |
| #INFO=<ID=CLNSIGCONF,Number=.,Type=String,Description="Conflicting clinical significance for this single variant"> | |
| #INFO=<ID=CLNSIGINCL,Number=.,Type=String,Description="Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance."> | |
| #INFO=<ID=CLNVC,Number=1,Type=String,Description="Variant type"> | |
| #INFO=<ID=CLNVCSO,Number=1,Type=String,Description="Sequence Ontology id for variant type"> | |
| #INFO=<ID=CLNVI,Number=.,Type=String,Description="the variant's clinical sources reported as tag-value pairs of database and variant identifier"> | |
| #INFO=<ID=DBVARID,Number=.,Type=String,Description="nsv accessions from dbVar for the variant"> | |
| #INFO=<ID=GENEINFO,Number=1,Type=String,Description="Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)"> | |
| #INFO=<ID=MC,Number=.,Type=String,Description="comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence"> | |
| #INFO=<ID=ORIGIN,Number=.,Type=String,Description="Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other"> | |
| #INFO=<ID=RS,Number=.,Type=String,Description="dbSNP ID (i.e. rs number)"> | |
| #INFO=<ID=SSR,Number=1,Type=Integer,Description="Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other"> | |
| CHROM POS ID REF ALT FILTER QUAL INFO | |
| 1 1014O42 475283 G A . . AF_ESP=0.00546;AF_EXAC=0.00165;AF_TGP=0.00619;ALLELEID=446939;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014042G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143888043 | |
| 1 1O14122 542074 C T . . AF_ESP=0.00015;AF_EXAC=0.00010;ALLELEID=514926;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014122C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150861311 | |
| 1 1014143 183381 C T . . ALLELEID=181485;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014143C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:147571.0003;GENEINFO=ISG15:9636;MC=SO:0001587|nonsense;ORIGIN=1;RS=786201005 | |
| 1 1014179 542075 C T . . ALLELEID=514896;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014179C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553169766 | |
| 1 1014217 475278 C T . . AF_ESP=0.00515;AF_EXAC=0.00831;AF_TGP=0.00339;ALLELEID=446987;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014217C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61766284 | |
| 1 1014228 402986 G A . . AF_ESP=0.40158;AF_EXAC=0.37025;AF_TGP=0.33886;ALLELEID=389314;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1014228G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1921 | |
| 1 1014255 571208 G A . . ALLELEID=556509;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014255G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1014276 568195 G A . . ALLELEID=556512;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014276G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1014316 161455 C CG . . ALLELEID=171289;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014319dupG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:147571.0002;GENEINFO=ISG15:9636;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=672601345 | |
| 1 1014359 161454 G T . . AF_EXAC=0.00001;ALLELEID=171288;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014359G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:147571.0001;GENEINFO=ISG15:9636;MC=SO:0001587|nonsense;ORIGIN=1;RS=672601312 | |
| 1 1014401 542076 G A . . AF_ESP=0.00038;AF_EXAC=0.00036;AF_TGP=0.00060;ALLELEID=514865;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014401G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138829117 | |
| 1 1014451 475281 C T . . AF_ESP=0.00987;AF_EXAC=0.00772;AF_TGP=0.01558;ALLELEID=446936;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014451C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=116002608 | |
| 1 1014471 475282 G C . . AF_ESP=0.00070;AF_TGP=0.00080;ALLELEID=446981;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014471G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140447219 | |
| 1 1020177 474165 C A . . AF_EXAC=0.00038;ALLELEID=446941;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020177C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776698665 | |
| 1 1020183 387476 G C . . AF_EXAC=0.00114;AF_TGP=0.00958;ALLELEID=364282;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1020183G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539283387 | |
| 1 1020204 574825 G GGCCGCTGCT . . ALLELEID=556516;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020211_1020219dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=AGRN:375790;ORIGIN=1 | |
| 1 1020216 377270 C G . . AF_EXAC=0.00024;ALLELEID=364148;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1020216C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764659938 | |
| 1 1020216 541157 CG GT . . ALLELEID=514900;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020216_1020217delCGinsGT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553170743 | |
| 1 1020217 128310 G T . . AF_EXAC=0.42418;AF_TGP=0.28255;ALLELEID=133759;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1020217G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115173026 | |
| 1 1020221 388958 C T . . ALLELEID=364285;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1020221C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057523287 | |
| 1 1020239 210112 G C . . AF_EXAC=0.03475;AF_TGP=0.00879;ALLELEID=206690;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1020239G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201073369 | |
| 1 102O344 571135 G A . . ALLELEID=556541;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020344G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 |
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| #fileformat=VCFv4.1 | |
| #fileDate=2019-03-01 | |
| #source=ClinVar | |
| #reference=GRCh38 | |
| #ID=<Description="ClinVar Variation ID"> | |
| #INFO=<ID=AF_ESP,Number=1,Type=Float,Description="allele frequencies from GO-ESP"> | |
| #INFO=<ID=AF_EXAC,Number=1,Type=Float,Description="allele frequencies from ExAC"> | |
| #INFO=<ID=AF_TGP,Number=1,Type=Float,Description="allele frequencies from TGP"> | |
| #INFO=<ID=ALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID"> | |
| #INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"> | |
| #INFO=<ID=CLNDNINCL,Number=.,Type=String,Description="For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"> | |
| #INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"> | |
| ##INFO=<ID=CLNDISDBINCL,Number=.,Type=String,Description="For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"> | |
| #INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression."> | |
| #INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="ClinVar review status for the Variation ID"> | |
| #INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant"> | |
| #INFO=<ID=CLNSIGCONF,Number=.,Type=String,Description="Conflicting clinical significance for this single variant"> | |
| #INFO=<ID=CLNSIGINCL,Number=.,Type=String,Description="Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance."> | |
| #INFO=<ID=CLNVC,Number=1,Type=String,Description="Variant type"> | |
| #INFO=<ID=CLNVCSO,Number=1,Type=String,Description="Sequence Ontology id for variant type"> | |
| #INFO=<ID=CLNVI,Number=.,Type=String,Description="the variant's clinical sources reported as tag-value pairs of database and variant identifier"> | |
| #INFO=<ID=DBVARID,Number=.,Type=String,Description="nsv accessions from dbVar for the variant"> | |
| #INFO=<ID=GENEINFO,Number=1,Type=String,Description="Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)"> | |
| #INFO=<ID=MC,Number=.,Type=String,Description="comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence"> | |
| #INFO=<ID=ORIGIN,Number=.,Type=String,Description="Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other"> | |
| #INFO=<ID=RS,Number=.,Type=String,Description="dbSNP ID (i.e. rs number)"> | |
| #INFO=<ID=SSR,Number=1,Type=Integer,Description="Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other"> | |
| #CHROM POS ID REF ALT FILTER QUAL INFO | |
| 1 1014O42 475283 G A . . AF_ESP=0.00546;AF_EXAC=0.00165;AF_TGP=0.00619;ALLELEID=446939;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014042G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143888043 | |
| 1 1O14122 542074 C T . . AF_ESP=0.00015;AF_EXAC=0.00010;ALLELEID=514926;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014122C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150861311 | |
| 1 1014143 183381 C T . . ALLELEID=181485;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014143C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:147571.0003;GENEINFO=ISG15:9636;MC=SO:0001587|nonsense;ORIGIN=1;RS=786201005 | |
| 1 1014179 542075 C T . . ALLELEID=514896;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014179C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553169766 | |
| 1 1014217 475278 C T . . AF_ESP=0.00515;AF_EXAC=0.00831;AF_TGP=0.00339;ALLELEID=446987;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014217C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61766284 | |
| 1 1014228 402986 G A . . AF_ESP=0.40158;AF_EXAC=0.37025;AF_TGP=0.33886;ALLELEID=389314;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1014228G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1921 | |
| 1 1014255 571208 G A . . ALLELEID=556509;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014255G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1014276 568195 G A . . ALLELEID=556512;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014276G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1014316 161455 C CG . . ALLELEID=171289;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014319dupG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:147571.0002;GENEINFO=ISG15:9636;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=672601345 | |
| 1 1014359 161454 G T . . AF_EXAC=0.00001;ALLELEID=171288;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014359G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:147571.0001;GENEINFO=ISG15:9636;MC=SO:0001587|nonsense;ORIGIN=1;RS=672601312 | |
| 1 1014401 542076 G A . . AF_ESP=0.00038;AF_EXAC=0.00036;AF_TGP=0.00060;ALLELEID=514865;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014401G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138829117 | |
| 1 1014451 475281 C T . . AF_ESP=0.00987;AF_EXAC=0.00772;AF_TGP=0.01558;ALLELEID=446936;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014451C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=116002608 | |
| 1 1014471 475282 G C . . AF_ESP=0.00070;AF_TGP=0.00080;ALLELEID=446981;CLNDISDB=MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563;CLNDN=Immunodeficiency_38_with_basal_ganglia_calcification;CLNHGVS=NC_000001.11:g.1014471G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ISG15:9636;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140447219 | |
| 1 1020177 474165 C A . . AF_EXAC=0.00038;ALLELEID=446941;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020177C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776698665 | |
| 1 1020183 387476 G C . . AF_EXAC=0.00114;AF_TGP=0.00958;ALLELEID=364282;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1020183G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539283387 | |
| 1 1020204 574825 G GGCCGCTGCT . . ALLELEID=556516;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020211_1020219dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=AGRN:375790;ORIGIN=1 | |
| 1 1020216 377270 C G . . AF_EXAC=0.00024;ALLELEID=364148;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1020216C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764659938 | |
| 1 1020216 541157 CG GT . . ALLELEID=514900;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020216_1020217delCGinsGT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553170743 | |
| 1 1020217 128310 G T . . AF_EXAC=0.42418;AF_TGP=0.28255;ALLELEID=133759;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1020217G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115173026 | |
| 1 1020221 388958 C T . . ALLELEID=364285;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1020221C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057523287 | |
| 1 1020239 210112 G C . . AF_EXAC=0.03475;AF_TGP=0.00879;ALLELEID=206690;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1020239G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201073369 | |
| 1 102O344 571135 G A . . ALLELEID=556541;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020344G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1020355 581563 G C . . ALLELEID=556511;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1020355G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1022188 263166 A G . . AF_ESP=0.01761;AF_EXAC=0.00493;AF_TGP=0.01418;ALLELEID=249265;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1022188A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115704555 | |
| 1 1022225 243036 G A . . AF_EXAC=0.00001;ALLELEID=244110;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590;CLNDN=Congenital_myasthenic_syndrome;CLNHGVS=NC_000001.11:g.1022225G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756623659 | |
| 1 1022260 128296 C T . . AF_ESP=0.03175;AF_EXAC=0.02016;AF_TGP=0.03275;ALLELEID=133745;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1022260C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=6657048 | |
| 1 1022313 243037 A T . . ALLELEID=244111;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590;CLNDN=Congenital_myasthenic_syndrome;CLNHGVS=NC_000001.11:g.1022313A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879253787 | |
| 1 1022361 541155 C A . . AF_EXAC=0.00015;ALLELEID=514929;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1022361C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=533320704 | |
| 1 1022383 541203 C G . . AF_EXAC=0.00076;ALLELEID=514916;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1022383C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768527925 | |
| 1 1035307 474141 C T . . AF_ESP=0.00192;AF_EXAC=0.00059;AF_TGP=0.00300;ALLELEID=446942;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1035307C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140954236 | |
| 1 1040672 541188 G C . . AF_EXAC=0.00000;ALLELEID=514915;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1040672G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756710837 | |
| 1 1040679 210111 C T . . AF_EXAC=0.00022;AF_TGP=0.00100;ALLELEID=206691;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1040679C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=544749044 | |
| 1 104O732 474159 G A . . AF_ESP=0.00300;AF_EXAC=0.00160;AF_TGP=0.00479;ALLELEID=447009;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1040732G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201301445 | |
| 1 1040744 474163 CAAG C . . ALLELEID=446960;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1040749_1040751delAGA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=AGRN:375790;ORIGIN=1;RS=749209897 | |
| 1 1040804 541197 C T . . ALLELEID=514870;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1040804C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1235929400 | |
| 1 1040839 541156 G A . . ALLELEID=514918;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1040839G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1284515586 | |
| 1 1041174 263202 C G . . AF_EXAC=0.01494;AF_TGP=0.02556;ALLELEID=249305;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1041174C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=191270495 | |
| 1 1041183 263203 C T . . AF_EXAC=0.00135;AF_TGP=0.00978;ALLELEID=249306;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1041183C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=536085218 | |
| 1 1041197 430121 T C . . AF_EXAC=0.00024;ALLELEID=421151;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1041197T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779170859 | |
| 1 1041218 263204 C T . . AF_EXAC=0.00626;AF_TGP=0.00559;ALLELEID=249307;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1041218C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200607541 | |
| 1 1041249 128320 C T . . AF_EXAC=0.01003;AF_TGP=0.04113;ALLELEID=133769;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1041249C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=113789806 | |
| 1 1041252 541196 G A . . AF_EXAC=0.00010;ALLELEID=514919;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041252G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746098476 | |
| 1 1041274 474169 C T . . ALLELEID=446994;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041274C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1256837701 | |
| 1 1041285 541187 C G . . ALLELEID=514922;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041285C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=956784907 | |
| 1 1041330 541205 G A . . AF_EXAC=0.00000;ALLELEID=514942;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041330G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765834882 | |
| 1 1041349 541167 G A . . ALLELEID=514923;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041349G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1318084676 | |
| 1 1041354 574478 CGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACG C . . ALLELEID=556892;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041359_1041392del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=AGRN:375790;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 1041534 568172 A G . . ALLELEID=556810;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041534A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1041579 474095 C G . . ALLELEID=446995;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041579C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149868381 | |
| 1 1O41582 126556 C T . . ALLELEID=132069;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590|MedGen:C3808739,OMIM:615120;CLNDN=Congenital_myasthenic_syndrome|Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041582C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:103320.0003;GENEINFO=AGRN:375790;MC=SO:0001587|nonsense;ORIGIN=1;RS=587777299 | |
| 1 1041583 128291 A G . . AF_ESP=0.01409;AF_EXAC=0.00461;AF_TGP=0.01258;ALLELEID=133740;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1041583A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150359724 | |
| 1 1041647 541211 G A . . AF_EXAC=0.00006;AF_TGP=0.00080;ALLELEID=514931;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041647G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=563020089 | |
| 1 1041648 263158 G T . . AF_ESP=0.00500;AF_EXAC=0.00488;AF_TGP=0.00240;ALLELEID=249308;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1041648G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138031468 | |
| 1 1041655 474096 G A . . ALLELEID=447000;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041655G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174827 | |
| 1 1041669 570634 C A . . ALLELEID=556812;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041669C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1041670 474097 A G . . ALLELEID=447003;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041670A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174830 | |
| 1 1041949 541194 GT AC . . ALLELEID=514924;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041949_1041950delGTinsAC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553174921 | |
| 1 1041950 128292 T C . . AF_ESP=0.85259;AF_EXAC=0.91656;AF_TGP=0.88518;ALLELEID=133741;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1041950T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2799066 | |
| 1 1041966 541206 G A . . AF_ESP=0.00108;ALLELEID=514936;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041966G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138841641 | |
| 1 1041976 474098 C T . . AF_ESP=0.00100;AF_EXAC=0.00046;AF_TGP=0.00160;ALLELEID=447005;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041976C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149636063 | |
| 1 1041987 541201 C T . . AF_ESP=0.00031;AF_EXAC=0.00025;ALLELEID=514872;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1041987C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368625531 | |
| 1 1042016 570656 G A . . ALLELEID=556894;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1042016G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1042027 572023 G A . . ALLELEID=556814;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1042027G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1042136 243038 T TC . . ALLELEID=244112;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590;CLNDN=Congenital_myasthenic_syndrome;CLNHGVS=NC_000001.11:g.1042140dupC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=AGRN:375790;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879253788 | |
| 1 1042190 263159 G A . . AF_ESP=0.77412;AF_EXAC=0.89464;AF_TGP=0.79413;ALLELEID=249309;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1042190G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2710876 | |
| 1 1043223 263160 CCT C . . ALLELEID=249310;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1043224_1043225delCT;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35881187 | |
| 1 1043248 263161 C T . . AF_ESP=0.00216;AF_EXAC=0.00084;AF_TGP=0.00439;ALLELEID=249311;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1043248C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=116586548 | |
| 1 1043249 474099 G A . . AF_ESP=0.00031;AF_EXAC=0.00006;AF_TGP=0.00040;ALLELEID=447016;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043249G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367601178 | |
| 1 1043255 474100 A G . . ALLELEID=446944;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043255A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763998310 | |
| 1 1043259 571178 C T . . ALLELEID=556524;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043259C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043281 582598 G C . . ALLELEID=556816;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043281G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043288 263162 G A . . AF_ESP=0.00477;AF_EXAC=0.00327;AF_TGP=0.00160;ALLELEID=249312;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1043288G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147346337 | |
| 1 1043303 541184 C T . . AF_EXAC=0.00003;ALLELEID=514934;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043303C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759844691 | |
| 1 1043366 541202 C T . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=514874;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043366C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=527601442 | |
| 1 1043382 263163 G A . . AF_ESP=0.00916;AF_EXAC=0.00834;AF_TGP=0.00300;ALLELEID=249313;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1043382G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138288952 | |
| 1 1043393 474101 C T . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=447008;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043393C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370615022 | |
| 1 1043411 541213 C T . . AF_ESP=0.00031;AF_EXAC=0.00021;ALLELEID=514879;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043411C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146185843 | |
| 1 1043420 541214 C T . . AF_ESP=0.00015;AF_EXAC=0.00024;ALLELEID=514940;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043420C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375687903 | |
| 1 1043424 446814 C T . . AF_ESP=0.00093;AF_EXAC=0.00040;AF_TGP=0.00120;ALLELEID=440337;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1043424C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144164397 | |
| 1 1043467 541192 G A . . AF_ESP=0.00509;AF_EXAC=0.00177;AF_TGP=0.00559;ALLELEID=514946;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043467G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=60074964 | |
| 1 1043476 263164 G A . . AF_ESP=0.00748;AF_EXAC=0.00537;AF_TGP=0.00819;ALLELEID=249314;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1043476G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115191992 | |
| 1 1043540 565446 C T . . ALLELEID=556549;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043540C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043572 579550 C T . . ALLELEID=556896;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043572C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 1043594 263165 G A . . AF_ESP=0.00300;AF_EXAC=0.00884;AF_TGP=0.01138;ALLELEID=249315;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1043594G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79016973 | |
| 1 1043630 581790 G A . . ALLELEID=556551;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043630G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043655 474102 A T . . AF_EXAC=0.00014;ALLELEID=447013;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043655A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749074796 | |
| 1 1043678 568575 G A . . ALLELEID=556553;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043678G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043889 541147 G A . . AF_ESP=0.00015;AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=514887;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043889G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140789461 | |
| 1 1043914 541198 C T . . AF_EXAC=0.00005;ALLELEID=514947;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043914C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779308593 | |
| 1 1043915 541160 G A . . AF_EXAC=0.00004;ALLELEID=514937;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043915G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748716996 | |
| 1 1043930 390111 G A . . ALLELEID=364314;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1043930G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1042435801 | |
| 1 1043942 541175 G A . . AF_EXAC=0.00011;ALLELEID=514939;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043942G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759762952 | |
| 1 1043961 569049 G A . . ALLELEID=556555;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043961G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1043993 541145 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=514889;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1043993G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377567167 | |
| 1 1044017 210106 G A . . AF_ESP=0.00231;AF_EXAC=0.00332;AF_TGP=0.00100;ALLELEID=206692;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1044017G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143324306 | |
| 1 1044019 541170 G T . . AF_EXAC=0.00001;ALLELEID=514898;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044019G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752339788 | |
| 1 1044122 501493 C T . . AF_ESP=0.00031;AF_TGP=0.00040;ALLELEID=492917;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1044122C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141603403 | |
| 1 1044134 128293 C G . . AF_ESP=0.01076;AF_EXAC=0.00345;AF_TGP=0.01098;ALLELEID=133742;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1044134C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28484890 | |
| 1 1044137 541180 T A . . AF_ESP=0.00038;AF_EXAC=0.00031;ALLELEID=514950;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044137T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144713799 | |
| 1 1044147 578507 G A . . ALLELEID=556526;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044147G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1044176 263167 G A . . AF_ESP=0.00231;AF_EXAC=0.00261;AF_TGP=0.00200;ALLELEID=249316;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1044176G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139886237 | |
| 1 1O44179 474103 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=447019;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044179C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146441147 | |
| 1 1044214 576273 C T . . ALLELEID=556818;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044214C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1044243 569580 G A . . ALLELEID=556820;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044243G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1044367 541159 G A . . AF_EXAC=0.00004;ALLELEID=514941;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1044367G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757879583 | |
| 1 1044368 128294 A T . . AF_ESP=0.03107;AF_EXAC=0.03020;AF_TGP=0.01837;ALLELEID=133743;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1044368A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113288277 | |
| 1 1044426 541148 G C . . AF_ESP=0.00015;AF_EXAC=0.00005;ALLELEID=514944;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_provided;CLNHGVS=NC_000001.11:g.1044426G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144361725 | |
| 1 1044455 263168 G A . . AF_ESP=0.02168;AF_EXAC=0.01664;AF_TGP=0.03055;ALLELEID=249317;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1044455G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114389542 | |
| 1 1045172 263169 G A . . AF_ESP=0.00046;AF_EXAC=0.00131;AF_TGP=0.00060;ALLELEID=249318;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045172G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140764403 | |
| 1 1045177 263170 G A . . AF_ESP=0.00046;AF_EXAC=0.00017;ALLELEID=249319;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045177G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150123719 | |
| 1 1045182 574242 C T . . ALLELEID=556557;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045182C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1045183 541210 G A . . AF_ESP=0.00054;AF_EXAC=0.00045;ALLELEID=514948;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045183G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199985558 | |
| 1 1045212 498628 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=490052;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1045212C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148837216 | |
| 1 1045235 567045 A G . . ALLELEID=556898;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045235A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1045289 387477 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=364327;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045289A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375177822 | |
| 1 1045393 128295 C T . . AF_ESP=0.01057;AF_EXAC=0.00360;AF_TGP=0.01098;ALLELEID=133744;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045393C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75774767 | |
| 1 1045411 474104 C T . . ALLELEID=447014;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045411C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553176121 | |
| 1 1045444 190974 G C . . AF_ESP=0.01815;AF_TGP=0.02736;ALLELEID=188780;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045444G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112039851 | |
| 1 1045460 210107 C T . . AF_ESP=0.00023;AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=206693;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045460C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370387335 | |
| 1 1045486 389918 T C . . AF_EXAC=0.00002;ALLELEID=364329;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045486T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753858864 | |
| 1 1045488 387869 G A . . AF_ESP=0.00100;AF_EXAC=0.00131;AF_TGP=0.00040;ALLELEID=364336;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045488G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146243145 | |
| 1 1045495 474105 C T . . AF_ESP=0.00108;AF_EXAC=0.00034;AF_TGP=0.00100;ALLELEID=446970;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045495C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148864199 | |
| 1 1045501 474106 C T . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=446945;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045501C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199577370 | |
| 1 1045523 572779 C T . . ALLELEID=556528;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045523C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1045568 263171 C T . . AF_ESP=0.00638;AF_EXAC=0.01159;AF_TGP=0.01078;ALLELEID=249320;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045568C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183108359 | |
| 1 1045707 263172 A G . . AF_ESP=0.83208;AF_EXAC=0.91275;AF_TGP=0.86941;ALLELEID=249321;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045707A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3128098 | |
| 1 1045751 263173 A G . . AF_ESP=0.02453;AF_EXAC=0.01374;AF_TGP=0.03454;ALLELEID=249322;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045751A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=9697293 | |
| 1 1045785 263174 G A . . AF_EXAC=0.00002;ALLELEID=249323;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045785G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776485359 | |
| 1 1045843 541158 G A . . AF_ESP=0.00008;AF_EXAC=0.00024;AF_TGP=0.00180;ALLELEID=514901;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045843G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145162376 | |
| 1 1045846 390809 C T . . ALLELEID=364315;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045846C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539990009 | |
| 1 1045847 474107 G A . . AF_ESP=0.00023;AF_EXAC=0.00004;ALLELEID=447023;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045847G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369686860 | |
| 1 1045863 541209 G A . . AF_ESP=0.00023;AF_EXAC=0.00010;ALLELEID=514953;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045863G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144205055 | |
| 1 1045948 263175 C G . . AF_ESP=0.00023;AF_EXAC=0.00018;ALLELEID=249324;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1045948C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199785742 | |
| 1 1045960 541207 C T . . AF_ESP=0.00146;AF_EXAC=0.00081;AF_TGP=0.00100;ALLELEID=514949;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045960C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186518388 | |
| 1 1045965 263176 C T . . AF_ESP=0.00023;AF_EXAC=0.00078;AF_TGP=0.00200;ALLELEID=249325;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1045965C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=118105080 | |
| 1 1045973 235570 C T . . AF_ESP=0.00161;AF_EXAC=0.00209;AF_TGP=0.00100;ALLELEID=237251;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1045973C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=116836855 | |
| 1 1045996 474108 C T . . AF_ESP=0.00031;ALLELEID=447015;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1045996C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199593375 | |
| 1 1046015 541166 G A . . AF_EXAC=0.00006;ALLELEID=514961;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046015G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773144997 | |
| 1 1046020 474109 G A . . AF_ESP=0.00031;AF_EXAC=0.00017;ALLELEID=447029;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046020G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140120617 | |
| 1 1046079 263177 C T . . AF_ESP=0.00031;AF_EXAC=0.00052;ALLELEID=249326;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1046079C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147153797 | |
| 1 1046095 434107 G A . . AF_ESP=0.00138;AF_EXAC=0.00063;AF_TGP=0.00140;ALLELEID=427605;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1046095G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190000918 | |
| 1 1046155 474110 C T . . AF_TGP=0.00020;ALLELEID=447031;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046155C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200385841 | |
| 1 1046220 567364 C T . . ALLELEID=556950;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046220C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1046435 541165 G A . . AF_ESP=0.00008;AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=514943;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046435G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371483148 | |
| 1 1046472 474111 C A . . AF_ESP=0.00062;AF_EXAC=0.00060;AF_TGP=0.00080;ALLELEID=447017;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046472C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148475305 | |
| 1 1046488 263178 C T . . AF_ESP=0.00023;AF_EXAC=0.00041;AF_TGP=0.00060;ALLELEID=249327;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1046488C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375208869 | |
| 1 1046519 570635 G A . . ALLELEID=556559;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046519G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1046524 474112 C T . . AF_TGP=0.00060;ALLELEID=446946;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046524C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=549843700 | |
| 1 1046531 474113 A G . . ALLELEID=447026;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046531A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553176512 | |
| 1 1046551 128297 A G . . AF_ESP=0.78022;AF_EXAC=0.87675;AF_TGP=0.79772;ALLELEID=133746;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1046551A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2465128 | |
| 1 1046562 263179 C A . . AF_ESP=0.00285;AF_EXAC=0.00870;AF_TGP=0.01138;ALLELEID=249328;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1046562C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3813188 | |
| 1 1046604 541161 C T . . AF_EXAC=0.00020;ALLELEID=514956;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046604C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751987634 | |
| 1 1046638 474114 C T . . ALLELEID=447034;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046638C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1367992401 | |
| 1 1046824 387478 C T . . ALLELEID=364294;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1046824C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775823409 | |
| 1 1046833 128298 G C . . AF_ESP=0.01469;AF_TGP=0.01498;ALLELEID=133747;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1046833G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150132566 | |
| 1 1046833 573911 G T . . ALLELEID=556561;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046833G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1046845 474115 C T . . AF_EXAC=0.00168;AF_TGP=0.00439;ALLELEID=447043;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046845C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201166586 | |
| 1 1046854 434108 C G . . AF_ESP=0.00147;AF_EXAC=0.00084;AF_TGP=0.00180;ALLELEID=427606;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1046854C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149957221 | |
| 1 1046922 474116 C A . . AF_ESP=0.00116;AF_EXAC=0.00215;AF_TGP=0.00100;ALLELEID=446971;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046922C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149159118 | |
| 1 1046922 570233 C T . . ALLELEID=556530;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046922C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1046956 474117 C T . . AF_EXAC=0.00010;ALLELEID=446948;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1046956C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758046832 | |
| 1 1046976 263180 G A . . AF_EXAC=0.00007;ALLELEID=249329;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1046976G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=749958717 | |
| 1 1047342 128299 A G . . AF_ESP=0.00538;AF_EXAC=0.01432;AF_TGP=0.01398;ALLELEID=133748;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1047342A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142416636 | |
| 1 1047347 575641 G A . . ALLELEID=556822;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047347G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047394 474118 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=446952;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047394C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368015466 | |
| 1 1047403 128300 T C . . AF_ESP=0.00800;AF_EXAC=0.00511;AF_TGP=0.00839;ALLELEID=133749;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1047403T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146358566 | |
| 1 1047453 565843 C A . . ALLELEID=556824;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047453C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047462 512871 G A . . AF_ESP=0.00023;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=497956;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1047462G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199620555 | |
| 1 1047464 128301 G C . . AF_ESP=0.05406;AF_EXAC=0.05768;AF_TGP=0.03874;ALLELEID=133750;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1047464G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=76264143 | |
| 1 1047561 263181 T C . . AF_ESP=0.76657;AF_TGP=0.79992;ALLELEID=249331;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1047561T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3128102 | |
| 1 1047588 570533 C T . . ALLELEID=556563;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047588C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047589 541190 G A . . AF_ESP=0.00369;AF_EXAC=0.00070;AF_TGP=0.00080;ALLELEID=514945;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047589G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148430436 | |
| 1 1047599 474119 C T . . AF_EXAC=0.00003;ALLELEID=447038;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047599C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775453668 | |
| 1 1047614 128302 T C . . AF_ESP=0.79117;AF_EXAC=0.89893;AF_TGP=0.83586;ALLELEID=133751;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1047614T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=10267 | |
| 1 1047625 541152 G A . . AF_ESP=0.00015;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=514951;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047625G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149762107 | |
| 1 1047626 128303 C T . . AF_ESP=0.01184;AF_EXAC=0.00361;AF_TGP=0.01098;ALLELEID=133752;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1047626C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75361935 | |
| 1 1047631 474121 G A . . AF_ESP=0.00054;AF_EXAC=0.00033;AF_TGP=0.00060;ALLELEID=447046;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047631G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200339732 | |
| 1 1047635 574597 C G . . ALLELEID=556952;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047635C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047806 547973 G A . . ALLELEID=538325;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047806G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=65;RS=764139323 | |
| 1 1047814 474122 C T . . AF_EXAC=0.00001;ALLELEID=447042;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047814C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753681540 | |
| 1 1047838 474123 C A . . ALLELEID=447048;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047838C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777331097 | |
| 1 1047841 390183 C T . . AF_ESP=0.00016;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=364341;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1047841C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147673996 | |
| 1 1047842 474124 G A . . AF_EXAC=0.00010;ALLELEID=447054;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047842G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746259185 | |
| 1 1047863 263182 C T . . AF_ESP=0.00209;AF_EXAC=0.00280;AF_TGP=0.00180;ALLELEID=249332;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1047863C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142620337 | |
| 1 1047870 569726 G C . . ALLELEID=556532;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047870G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047871 576109 G A . . ALLELEID=556565;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1047871G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1047876 210108 C T . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=206694;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1047876C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=536657086 | |
| 1 1048006 210109 C T . . AF_EXAC=0.00057;ALLELEID=206695;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048006C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=779516004 | |
| 1 1048007 541204 G A . . AF_ESP=0.00008;AF_EXAC=0.00031;AF_TGP=0.00020;ALLELEID=514952;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048007G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201733530 | |
| 1 1048025 585379 G A . . ALLELEID=576385;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1048025G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 1048033 474125 C T . . AF_ESP=0.00016;AF_EXAC=0.00003;ALLELEID=446955;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048033C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141842070 | |
| 1 1048043 474126 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=446956;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048043G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376408361 | |
| 1 1048063 569151 G A . . ALLELEID=556954;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048063G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048O69 571650 C T . . ALLELEID=556956;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048069C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048079 390522 C T . . AF_ESP=0.00055;AF_EXAC=0.00040;AF_TGP=0.00020;ALLELEID=364331;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048079C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142597617 | |
| 1 1048099 541174 C T . . AF_EXAC=0.00008;ALLELEID=514905;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048099C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774023993 | |
| 1 1048104 575395 T C . . ALLELEID=556958;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048104T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048116 434109 C A . . ALLELEID=427607;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048116C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760218476 | |
| 1 1048119 474127 C T . . AF_EXAC=0.00003;ALLELEID=447050;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048119C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776411371 | |
| 1 1048126 128304 C T . . AF_ESP=0.00672;AF_EXAC=0.00971;AF_TGP=0.00859;ALLELEID=133753;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1048126C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139294803 | |
| 1 1048127 474120 G A . . AF_ESP=0.00008;AF_EXAC=0.00011;ALLELEID=446973;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048127G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372005493 | |
| 1 1048186 474128 G A . . AF_ESP=0.00103;AF_EXAC=0.00066;AF_TGP=0.00180;ALLELEID=447069;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048186G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199680125 | |
| 1 1048224 128305 C T . . AF_ESP=0.00662;AF_EXAC=0.00355;AF_TGP=0.00779;ALLELEID=133754;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1048224C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=184970403 | |
| 1 1048231 568798 C T . . ALLELEID=556960;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048231C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048232 128306 G A . . AF_ESP=0.00679;AF_EXAC=0.00308;AF_TGP=0.00779;ALLELEID=133755;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1048232G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201483077 | |
| 1 1048234 541171 C G . . ALLELEID=514907;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048234C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=745406424 | |
| 1 1048281 593687 G C . . ALLELEID=584751;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1048281G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048333 579825 C T . . ALLELEID=556567;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048333C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1048877 210110 C T . . AF_ESP=0.00088;AF_EXAC=0.00090;AF_TGP=0.00100;ALLELEID=206696;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048877C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200170414 | |
| 1 1048881 389927 G T . . ALLELEID=364318;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048881G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057523585 | |
| 1 1048892 392687 C T . . AF_ESP=0.00197;AF_TGP=0.00260;ALLELEID=364322;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1048892C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368555478 | |
| 1 1048922 128307 T C . . AF_ESP=0.45863;AF_EXAC=0.62948;AF_TGP=0.54573;ALLELEID=133756;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1048922T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9442391 | |
| 1 1048944 474129 C T . . ALLELEID=447070;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048944C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1015396973 | |
| 1 1048986 541182 C T . . ALLELEID=514954;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1048986C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1181560428 | |
| 1 1049033 474130 G A . . AF_ESP=0.00039;AF_EXAC=0.00087;AF_TGP=0.00080;ALLELEID=446962;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049033G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201470321 | |
| 1 1049046 263183 C T . . AF_ESP=0.00261;AF_EXAC=0.00153;AF_TGP=0.00479;ALLELEID=249333;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049046C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201346452 | |
| 1 1049050 541195 TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG T . . ALLELEID=514958;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049065_1049147del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553177542 | |
| 1 1049065 474131 C T . . AF_ESP=0.00336;AF_EXAC=0.00007;AF_TGP=0.00799;ALLELEID=447053;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049065C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199977575 | |
| 1 1O49070 263184 A T . . AF_ESP=0.00344;AF_TGP=0.00779;ALLELEID=249334;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049070A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369279324 | |
| 1 1049076 387479 C T . . AF_ESP=0.01333;AF_EXAC=0.00341;AF_TGP=0.01478;ALLELEID=364323;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049076C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=188005130 | |
| 1 1049257 474132 G A . . AF_EXAC=0.00002;ALLELEID=446965;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049257G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767200294 | |
| 1 1049260 487335 G A . . AF_ESP=0.00016;AF_EXAC=0.00034;AF_TGP=0.00260;ALLELEID=446975;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049260G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373287346 | |
| 1 1049280 541153 C T . . AF_ESP=0.00116;AF_EXAC=0.00111;AF_TGP=0.00100;ALLELEID=514957;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049280C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200232485 | |
| 1 1049289 263185 C T . . AF_ESP=0.00425;AF_EXAC=0.00412;AF_TGP=0.00040;ALLELEID=249335;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049289C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144620006 | |
| 1 1049290 541178 G A . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=514912;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049290G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=181981987 | |
| 1 1049316 474133 C A . . ALLELEID=447074;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049316C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553177633 | |
| 1 1049343 541151 C T . . AF_ESP=0.00008;AF_EXAC=0.00011;ALLELEID=514925;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049343C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200646795 | |
| 1 1049372 571223 G A . . ALLELEID=556534;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049372G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1049389 128308 C T . . AF_ESP=0.01007;AF_EXAC=0.00329;AF_TGP=0.01078;ALLELEID=133757;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049389C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75767981 | |
| 1 1049407 474134 C T . . AF_EXAC=0.00035;AF_TGP=0.00060;ALLELEID=447077;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049407C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=547462192 | |
| 1 1049440 582496 C G . . ALLELEID=556962;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049440C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1049450 578463 G A . . ALLELEID=556536;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049450G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1049467 263186 G C . . AF_ESP=0.06837;AF_TGP=0.06110;ALLELEID=249336;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049467G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112917612 | |
| 1 1049568 541164 C T . . AF_ESP=0.00023;AF_EXAC=0.00015;ALLELEID=514966;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049568C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373657385 | |
| 1 1049569 263187 G A . . AF_ESP=0.00031;AF_EXAC=0.00036;AF_TGP=0.00060;ALLELEID=249337;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049569G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376592885 | |
| 1 1049591 128309 G A . . AF_ESP=0.00791;AF_EXAC=0.01271;AF_TGP=0.00439;ALLELEID=133758;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1049591G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111818381 | |
| 1 1049663 474135 G T . . AF_EXAC=0.00003;ALLELEID=447078;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049663G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775550619 | |
| 1 1049672 489335 C T . . ALLELEID=481556;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1049672C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001587|nonsense;ORIGIN=1;RS=750176911 | |
| 1 1049673 474136 G A . . AF_EXAC=0.00000;ALLELEID=446978;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049673G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760702396 | |
| 1 1049690 252808 G A . . AF_ESP=0.00284;AF_EXAC=0.00498;AF_TGP=0.00080;ALLELEID=246856;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049690G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2799068 | |
| 1 10497O2 474137 C T . . AF_EXAC=0.00007;ALLELEID=446997;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049702C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771455197 | |
| 1 1049746 387480 G C . . AF_ESP=0.00811;AF_EXAC=0.00358;AF_TGP=0.00419;ALLELEID=364295;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049746G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199876002 | |
| 1 1049782 434110 G A . . AF_EXAC=0.00002;ALLELEID=427608;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049782G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115885544 | |
| 1 1049785 513264 C T . . AF_EXAC=0.00023;AF_TGP=0.00000;ALLELEID=497951;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049785C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=186574226 | |
| 1 1049791 128311 C T . . AF_ESP=0.01577;AF_EXAC=0.00729;AF_TGP=0.02276;ALLELEID=133760;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049791C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115019873 | |
| 1 1049886 263188 C T . . AF_ESP=0.40222;AF_EXAC=0.54365;AF_TGP=0.49521;ALLELEID=249338;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1049886C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2275813 | |
| 1 1049927 291137 GCCCCTGCCAGCCCAA G . . ALLELEID=275374;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1049937_1049951delGCCCAACCCCTGCCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=AGRN:375790;ORIGIN=1;RS=769494139 | |
| 1 1049944 541150 C T . . AF_EXAC=0.00002;ALLELEID=514965;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049944C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777910926 | |
| 1 1049957 541177 C T . . AF_EXAC=0.00004;AF_TGP=0.00040;ALLELEID=514927;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049957C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370833536 | |
| 1 1049958 541168 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;AF_TGP=0.00040;ALLELEID=514932;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049958G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369164916 | |
| 1 1049979 474138 C T . . AF_ESP=0.00101;AF_EXAC=0.00219;AF_TGP=0.00280;ALLELEID=447081;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049979C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149543827 | |
| 1 1049992 582351 C G . . ALLELEID=556569;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049992C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1049997 263189 C T . . AF_ESP=0.00247;AF_EXAC=0.00251;AF_TGP=0.00120;ALLELEID=249339;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1049997C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=113020870 | |
| 1 1049998 474139 G A . . AF_ESP=0.00108;AF_EXAC=0.00079;AF_TGP=0.00040;ALLELEID=446967;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1049998G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147259096 | |
| 1 1050014 565689 G A . . ALLELEID=556538;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050014G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1050027 282708 C A . . AF_EXAC=0.00006;ALLELEID=266945;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_provided;CLNHGVS=NC_000001.11:g.1050027C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748076659 | |
| 1 1050045 541200 G A . . ALLELEID=514968;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050045G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1410342207 | |
| 1 1050054 263190 T A . . AF_EXAC=0.00051;AF_TGP=0.00160;ALLELEID=249340;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1050054T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=535286672 | |
| 1 1050066 263191 G T . . AF_EXAC=0.45665;AF_TGP=0.33546;ALLELEID=249341;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1050066G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2275812 | |
| 1 1050069 263192 G A . . AF_EXAC=0.53006;AF_TGP=0.52556;ALLELEID=249342;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1050069G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2799067 | |
| 1 1050246 474140 C T . . AF_ESP=0.00861;AF_EXAC=0.00205;AF_TGP=0.00539;ALLELEID=447087;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050246C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139400715 | |
| 1 1050247 567692 G A . . ALLELEID=556964;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050247G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1050277 572154 G A . . ALLELEID=556540;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050277G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1050319 541172 C A . . AF_TGP=0.00040;ALLELEID=514935;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050319C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145111679 | |
| 1 1050319 541181 C T . . AF_ESP=0.00008;AF_TGP=0.00220;ALLELEID=514973;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050319C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145111679 | |
| 1 1050320 451650 G A . . AF_ESP=0.00008;AF_EXAC=0.00012;ALLELEID=442574;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050320G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374905300 | |
| 1 1050332 582123 C T . . ALLELEID=556542;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050332C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 1050334 541173 G C . . ALLELEID=514978;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050334G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553177963 | |
| 1 1050417 263193 A G . . AF_ESP=0.02085;AF_EXAC=0.01924;AF_TGP=0.01078;ALLELEID=249343;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050417A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142286944 | |
| 1 1050446 128312 G A . . AF_ESP=0.05170;AF_EXAC=0.01344;AF_TGP=0.04593;ALLELEID=133761;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050446G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=17160775 | |
| 1 1050473 243039 G A . . AF_EXAC=0.00003;ALLELEID=244113;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590;CLNDN=Congenital_myasthenic_syndrome;CLNHGVS=NC_000001.11:g.1050473G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764160563 | |
| 1 1050475 263194 C T . . AF_ESP=0.00600;AF_EXAC=0.00608;AF_TGP=0.00459;ALLELEID=249344;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050475C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147990356 | |
| 1 1050488 581444 A G . . ALLELEID=556571;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050488A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1050490 474142 C T . . AF_EXAC=0.00003;AF_TGP=0.00040;ALLELEID=447099;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050490C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368498050 | |
| 1 1050505 541208 C T . . AF_EXAC=0.00003;ALLELEID=514979;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050505C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766955342 | |
| 1 1050520 128313 C T . . AF_ESP=0.04684;AF_TGP=0.04473;ALLELEID=133762;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050520C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17160776 | |
| 1 1050521 541154 G A . . AF_EXAC=0.00002;ALLELEID=514938;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050521G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752964147 | |
| 1 1050543 474143 G A . . AF_EXAC=0.00002;ALLELEID=447011;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050543G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=551658645 | |
| 1 1050545 541191 C T . . AF_ESP=0.00369;AF_EXAC=0.00077;AF_TGP=0.00080;ALLELEID=514959;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050545C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148518738 | |
| 1 1050556 541189 C T . . AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=514969;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050556C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=563420866 | |
| 1 1050575 18241 G C . . ALLELEID=33280;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590|MedGen:C3808739,OMIM:615120;CLNDN=Congenital_myasthenic_syndrome|Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050575G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:103320.0001;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199476396 | |
| 1 1050583 541186 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=514970;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050583G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376535149 | |
| 1 1050763 126555 G T . . ALLELEID=132068;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590|MedGen:C3808739,OMIM:615120;CLNDN=Congenital_myasthenic_syndrome|Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050763G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:103320.0002;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587777298 | |
| 1 1050785 263195 G A . . AF_ESP=0.00324;AF_EXAC=0.00423;AF_TGP=0.00120;ALLELEID=249345;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1050785G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145444272 | |
| 1 1050807 474144 C T . . AF_ESP=0.00247;AF_EXAC=0.01076;AF_TGP=0.00280;ALLELEID=447103;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050807C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147681220 | |
| 1 1050810 474145 C T . . AF_EXAC=0.00004;ALLELEID=447012;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050810C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759448658 | |
| 1 1050831 541199 G A . . AF_ESP=0.00023;AF_EXAC=0.00014;ALLELEID=514955;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1050831G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367587156 | |
| 1 1051248 474146 C T . . AF_ESP=0.00340;AF_EXAC=0.00593;AF_TGP=0.00060;ALLELEID=447109;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1051248C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34708466 | |
| 1 1051257 474147 C T . . AF_EXAC=0.00003;ALLELEID=447020;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051257C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748126752 | |
| 1 1051298 571366 G T . . ALLELEID=556826;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051298G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051304 565481 C T . . ALLELEID=556828;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051304C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051307 474148 G A . . AF_ESP=0.00016;AF_EXAC=0.00007;ALLELEID=447056;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051307G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141464249 | |
| 1 1051309 503670 C CT . . ALLELEID=495050;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1051311dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=AGRN:375790;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553178276 | |
| 1 1051326 474149 G A . . AF_EXAC=0.00000;ALLELEID=447059;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051326G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757621899 | |
| 1 1051331 474150 G A . . AF_EXAC=0.00060;AF_TGP=0.00020;ALLELEID=447111;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051331G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=538792693 | |
| 1 1051333 541193 T C . . ALLELEID=514990;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051333T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553178299 | |
| 1 1051336 263196 C T . . AF_ESP=0.00039;AF_EXAC=0.00036;ALLELEID=249346;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051336C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141463750 | |
| 1 1051351 263197 C T . . AF_ESP=0.00450;AF_EXAC=0.00281;AF_TGP=0.00319;ALLELEID=249347;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1051351C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112073270 | |
| 1 1051352 128314 G A . . AF_ESP=0.00847;AF_TGP=0.00180;ALLELEID=133763;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374|MedGen:CN517202;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1051352G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(3)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144245019 | |
| 1 1051357 128315 T C . . AF_ESP=0.07756;AF_EXAC=0.05003;AF_TGP=0.07907;ALLELEID=133764;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051357T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17160781 | |
| 1 1051380 263198 G A . . AF_ESP=0.00134;AF_EXAC=0.00110;AF_TGP=0.00040;ALLELEID=249348;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051380G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373058941 | |
| 1 1051469 424015 G A . . AF_EXAC=0.00013;ALLELEID=404872;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051469G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774881136 | |
| 1 1051491 571775 C A . . ALLELEID=556573;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051491C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051492 575642 G A . . ALLELEID=556830;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051492G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051495 515576 C T . . AF_EXAC=0.00004;ALLELEID=497985;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051495C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751461791 | |
| 1 1051504 474151 G A . . ALLELEID=447021;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051504G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1356478300 | |
| 1 1051538 575706 C T . . ALLELEID=556832;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051538C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051548 541183 A G . . AF_ESP=0.00178;AF_EXAC=0.00154;AF_TGP=0.00260;ALLELEID=514994;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051548A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149659540 | |
| 1 1051565 541149 A G . . AF_EXAC=0.00010;ALLELEID=514960;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051565A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753473191 | |
| 1 1051598 474152 A G . . ALLELEID=447061;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051598A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553178384 | |
| 1 1051632 474153 G A . . AF_ESP=0.00131;AF_EXAC=0.00053;AF_TGP=0.00020;ALLELEID=447024;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051632G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=74045090 | |
| 1 1051639 474154 G A . . AF_EXAC=0.00001;ALLELEID=447063;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051639G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754858398 | |
| 1 1051736 397549 G A . . ALLELEID=384432;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051736G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:19_February_2017;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060499677 | |
| 1 1051762 128316 C T . . AF_ESP=0.00800;AF_EXAC=0.00522;AF_TGP=0.00958;ALLELEID=133765;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1051762C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17778478 | |
| 1 1051775 243040 G A . . AF_EXAC=0.00001;ALLELEID=244114;CLNDISDB=MedGen:C0751882,Orphanet:ORPHA590;CLNDN=Congenital_myasthenic_syndrome;CLNHGVS=NC_000001.11:g.1051775G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763818876 | |
| 1 1051779 388957 G A . . AF_EXAC=0.00003;ALLELEID=364297;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051779G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767076670 | |
| 1 1051790 579722 G A . . ALLELEID=556966;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051790G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1051807 390523 G A . . AF_ESP=0.00108;AF_EXAC=0.00023;AF_TGP=0.00040;ALLELEID=364332;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051807G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142242736 | |
| 1 1051809 541162 C T . . AF_EXAC=0.00022;AF_TGP=0.00040;ALLELEID=514962;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1051809C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=540580770 | |
| 1 1051811 263199 G A . . AF_ESP=0.00138;AF_EXAC=0.00055;AF_TGP=0.00260;ALLELEID=249349;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051811G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139415524 | |
| 1 1051820 128317 C T . . AF_ESP=0.75692;AF_EXAC=0.87569;AF_TGP=0.78874;ALLELEID=133766;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051820C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9803031 | |
| 1 1051829 507161 C T . . AF_EXAC=0.00001;ALLELEID=497960;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1051829C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=766872717 | |
| 1 1053754 578646 G A . . ALLELEID=556968;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053754G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1053768 474155 G A . . AF_ESP=0.00577;AF_EXAC=0.00270;AF_TGP=0.00539;ALLELEID=446974;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053768G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115061121 | |
| 1 1053806 582978 C T . . ALLELEID=556575;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053806C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1053826 474156 A C . . ALLELEID=447113;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053826A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553178845 | |
| 1 1053827 128318 G C . . AF_ESP=0.00092;AF_TGP=0.00899;ALLELEID=133767;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1053827G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74685771 | |
| 1 1053836 474157 C T . . AF_ESP=0.00031;AF_TGP=0.00040;ALLELEID=447066;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053836C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141178720 | |
| 1 1053839 474158 C T . . AF_ESP=0.00015;ALLELEID=447075;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053839C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201604787 | |
| 1 1053844 422180 C T . . AF_ESP=0.00008;AF_EXAC=0.00011;AF_TGP=0.00040;ALLELEID=404873;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1053844C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140892896 | |
| 1 1053845 541169 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=514967;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053845G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150134229 | |
| 1 1053868 541163 A G . . AF_EXAC=0.00001;ALLELEID=515000;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053868A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759500435 | |
| 1 1053900 541212 C T . . AF_EXAC=0.00000;ALLELEID=514971;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053900C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755986768 | |
| 1 1053912 541185 G A . . ALLELEID=515002;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053912G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1212454305 | |
| 1 1053915 474160 C T . . AF_ESP=0.00015;AF_EXAC=0.00182;AF_TGP=0.00140;ALLELEID=447076;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053915C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369308183 | |
| 1 1053933 434111 C T . . AF_ESP=0.00131;AF_EXAC=0.00057;AF_TGP=0.00160;ALLELEID=427609;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1053933C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143373928 | |
| 1 1053938 541146 C T . . AF_EXAC=0.00001;ALLELEID=514963;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1053938C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771364268 | |
| 1 1054431 263200 C A . . AF_ESP=0.00093;AF_TGP=0.00020;ALLELEID=249351;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1054431C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199552967 | |
| 1 1054454 541179 G A . . ALLELEID=514975;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054454G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1210257970 | |
| 1 1054467 474161 C T . . AF_ESP=0.00393;AF_EXAC=0.00226;AF_TGP=0.00260;ALLELEID=447027;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1054467C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115828965 | |
| 1 1054479 541176 A G . . ALLELEID=514972;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054479A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1473312060 | |
| 1 1054515 577765 G A . . ALLELEID=556970;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054515G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1054519 474162 C T . . AF_ESP=0.00015;AF_EXAC=0.00017;ALLELEID=447080;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054519C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147569326 | |
| 1 1054833 430302 C T . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=421152;CLNDISDB=MedGen:C3808739,OMIM:615120|MedGen:CN169374;CLNDN=Myasthenic_syndrome,_congenital,_8|not_specified;CLNHGVS=NC_000001.11:g.1054833C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144091542 | |
| 1 1054838 474164 C A . . ALLELEID=447030;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054838C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=868724036 | |
| 1 1054844 474166 G A . . AF_EXAC=0.00000;ALLELEID=447082;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054844G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775422356 | |
| 1 1054862 385926 A G . . ALLELEID=364344;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1054862A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057522367 | |
| 1 1054865 574619 G A . . ALLELEID=556577;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054865G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1054897 263201 G A . . AF_EXAC=0.00011;ALLELEID=249352;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1054897G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754185719 | |
| 1 1054900 128319 C T . . AF_ESP=0.57916;AF_EXAC=0.63764;AF_TGP=0.58526;ALLELEID=133768;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1054900C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4275402 | |
| 1 1054911 474167 G T . . AF_ESP=0.00024;AF_EXAC=0.00000;ALLELEID=447085;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054911G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374160610 | |
| 1 1054917 501491 A G . . AF_ESP=0.00072;AF_EXAC=0.00096;AF_TGP=0.00180;ALLELEID=492915;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1054917A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377296839 | |
| 1 1054962 474168 G A . . AF_EXAC=0.00172;AF_TGP=0.00080;ALLELEID=446976;CLNDISDB=MedGen:C3808739,OMIM:615120;CLNDN=Myasthenic_syndrome,_congenital,_8;CLNHGVS=NC_000001.11:g.1054962G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001583|missense_variant;ORIGIN=1;RS=527639453 | |
| 1 1055000 263157 C T . . AF_ESP=0.34176;AF_EXAC=0.33342;AF_TGP=0.34345;ALLELEID=249353;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1055000C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AGRN:375790;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3121561 | |
| 1 1211585 474798 G A . . AF_ESP=0.00646;AF_EXAC=0.00184;AF_TGP=0.00599;ALLELEID=447197;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1211585G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35160621 | |
| 1 1211746 578388 G A . . ALLELEID=558100;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1211746G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1211957 474797 C T . . AF_ESP=0.00100;AF_EXAC=0.00175;AF_TGP=0.00020;ALLELEID=447083;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1211957C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201461846 | |
| 1 1212033 541651 G A . . ALLELEID=515055;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1212033G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756542209 | |
| 1 1212042 403556 C T . . AF_ESP=0.26422;AF_EXAC=0.37506;AF_TGP=0.49840;ALLELEID=389315;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1212042C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17568 | |
| 1 1212082 573043 A G . . ALLELEID=556623;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1212082A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1212128 581981 C A . . ALLELEID=556911;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1212128C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1213065 474796 G A . . AF_ESP=0.01658;AF_EXAC=0.02039;AF_TGP=0.00759;ALLELEID=447259;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213065G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34160451 | |
| 1 1213069 474795 A G . . AF_ESP=0.00139;AF_EXAC=0.00037;AF_TGP=0.00220;ALLELEID=447260;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213069A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150516264 | |
| 1 1213676 541652 C T . . AF_EXAC=0.00005;ALLELEID=515105;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213676C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201768518 | |
| 1 1213724 541650 C T . . AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=515056;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213724C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=555467061 | |
| 1 1213738 96692 G A . . AF_EXAC=0.00003;ALLELEID=102585;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213738G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600315.0001|UniProtKB_(protein):P43489#VAR_070942;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587777075 | |
| 1 1213787 580337 T C . . ALLELEID=556913;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1213787T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 | |
| 1 1214048 569090 G A . . ALLELEID=556625;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1214048G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1214100 474794 G A . . AF_ESP=0.00526;AF_EXAC=0.01513;AF_TGP=0.00519;ALLELEID=447262;CLNDISDB=MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149;CLNDN=Immunodeficiency_16;CLNHGVS=NC_000001.11:g.1214100G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF4:7293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35304565 | |
| 1 1232241 515496 G A . . ALLELEID=498017;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232241G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=1386625448 | |
| 1 1232256 390144 G A . . ALLELEID=364446;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232256G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=867887048 | |
| 1 1232279 60484 A G . . ALLELEID=75079;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232279A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0001;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786200938 | |
| 1 1232289 426491 T TGCGGCGGGCGTG . . ALLELEID=414726;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232297_1232308dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=1553151150 | |
| 1 1232289 450224 T TGCGGCGGGCGTGGCG . . ALLELEID=442610;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349|MedGen:CN169374;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2|not_specified;CLNHGVS=NC_000001.11:g.1232300_1232314dup;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=1553151151 | |
| 1 1232290 518030 G A . . ALLELEID=498061;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232290G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=868472493 | |
| 1 1232294 60493 C T . . ALLELEID=75088;CLNDISDB=MedGen:C3809210,OMIM:615349;CLNDN=Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232294C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0010|UniProtKB_(protein):Q96L58#VAR_070132;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514722 | |
| 1 1232295 429685 G A . . ALLELEID=421163;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232295G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691530 | |
| 1 1232300 193479 T G . . ALLELEID=190643;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232300T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=794726955 | |
| 1 1232309 386485 C T . . ALLELEID=364354;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232309C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1039242906 | |
| 1 1232313 450501 C G . . ALLELEID=442611;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232313C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=900539403 | |
| 1 1232324 391547 C T . . ALLELEID=364403;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232324C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057524131 | |
| 1 1232332 510548 G C . . ALLELEID=498033;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232332G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553151162 | |
| 1 1232355 498895 T C . . ALLELEID=490319;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232355T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553151166 | |
| 1 1232385 392324 C T . . AF_TGP=0.00020;ALLELEID=364451;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232385C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=568623476 | |
| 1 1232416 193478 C T . . AF_TGP=0.16154;ALLELEID=190642;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349|MedGen:CN169374;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2|not_specified;CLNHGVS=NC_000001.11:g.1232416C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=190796582 | |
| 1 1232443 512327 C T . . ALLELEID=498040;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232443C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1278117182 | |
| 1 1232458 288791 A G . . ALLELEID=273028;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232458A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886044007 | |
| 1 1232471 60488 A G . . ALLELEID=75083;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232471A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0005|UniProtKB_(protein):Q96L58#VAR_070133;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514719 | |
| 1 1232478 60489 C T . . ALLELEID=75084;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232478C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0006|UniProtKB_(protein):Q96L58#VAR_070134;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514720 | |
| 1 1232514 568475 C G . . ALLELEID=556915;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232514C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1232517 452846 G A . . ALLELEID=442612;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232517G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553151208 | |
| 1 1232594 60497 CGGCGCGCCCTGGAGCGGGAGCA C . . ALLELEID=75092;CLNDISDB=MedGen:C4017378;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures;CLNHGVS=NC_000001.11:g.1232601_1232622del;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:615291.0014;GENEINFO=B3GALT6:126792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786200943 | |
| 1 1232616 424885 A G . . ALLELEID=413219;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232616A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064797105 | |
| 1 1232630 60490 GA G . . ALLELEID=75085;CLNDISDB=MedGen:C3809210,OMIM:615349;CLNDN=Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232631delA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:615291.0007;GENEINFO=B3GALT6:126792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=750088530 | |
| 1 1232632 421834 C CCTG . . ALLELEID=404899;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232643_1232645dupTGC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=755700896 | |
| 1 1232644 508639 G A . . ALLELEID=498043;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232644G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750669776 | |
| 1 1232645 387709 C T . . ALLELEID=364408;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232645C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057522880 | |
| 1 1232666 582960 G A . . ALLELEID=556627;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232666G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1232684 60494 GTGCTGGCCA G . . ALLELEID=75089;CLNDISDB=MedGen:C3809210,OMIM:615349;CLNDN=Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232693_1232701delATGCTGGCC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:615291.0011;GENEINFO=B3GALT6:126792;ORIGIN=1;RS=786200942 | |
| 1 1232722 541338 CT C . . ALLELEID=515106;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232724del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=B3GALT6:126792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553151257 | |
| 1 1232735 390636 C A . . AF_ESP=0.00458;AF_EXAC=0.00099;AF_TGP=0.00379;ALLELEID=364355;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232735C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142820961 | |
| 1 1232744 60486 G A . . ALLELEID=75081;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232744G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0003|UniProtKB_(protein):Q96L58#VAR_070136;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514718 | |
| 1 1232753 498732 T C . . AF_EXAC=0.00001;ALLELEID=490156;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232753T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781100600 | |
| 1 1232755 508739 C T . . AF_ESP=0.00008;AF_EXAC=0.00018;ALLELEID=498062;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232755C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370430307 | |
| 1 1232793 373234 C T . . AF_ESP=0.00071;AF_EXAC=0.00121;AF_TGP=0.00020;ALLELEID=359211;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232793C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200646244 | |
| 1 1232800 281204 G C . . AF_ESP=0.07707;AF_EXAC=0.10020;AF_TGP=0.10663;ALLELEID=265441;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232800G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q96L58#VAR_059317;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=12085009 | |
| 1 1232834 522415 T C . . ALLELEID=513007;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232834T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553151294 | |
| 1 1232859 427130 C CG . . ALLELEID=414727;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232866dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=B3GALT6:126792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=533071750 | |
| 1 1232859 60492 CG C . . ALLELEID=75087;CLNDISDB=MedGen:C3809210,OMIM:615349;CLNDN=Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232866delG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:615291.0009;GENEINFO=B3GALT6:126792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=533071750 | |
| 1 1232860 511844 G C . . ALLELEID=498053;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232860G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=532162467 | |
| 1 1232861 390607 G C . . AF_TGP=0.00080;ALLELEID=364455;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.1232861G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=551984021 | |
| 1 1232863 597117 G T . . ALLELEID=588178;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232863G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 1232865 281706 G T . . ALLELEID=265943;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.1232865G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778444849 | |
| 1 1232882 423210 G A . . AF_ESP=0.00010;AF_EXAC=0.00033;ALLELEID=404900;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232882G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377718922 | |
| 1 1232897 60495 G C . . ALLELEID=75090;CLNDISDB=MedGen:C4017378;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures;CLNHGVS=NC_000001.11:g.1232897G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0012|UniProtKB_(protein):Q96L58#VAR_070137;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514723 | |
| 1 1232908 511742 G A . . AF_EXAC=0.00005;ALLELEID=498019;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1232908G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=547484259 | |
| 1 1232927 60496 G A . . ALLELEID=75091;CLNDISDB=MedGen:C4017378;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures;CLNHGVS=NC_000001.11:g.1232927G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0013|UniProtKB_(protein):Q96L58#VAR_070138;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514724 | |
| 1 1232933 568476 G A . . ALLELEID=556917;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000|MedGen:C3809210,OMIM:615349;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1232933G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 1232972 60485 C T . . AF_EXAC=0.00004;AF_TGP=0.00040;ALLELEID=75080;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1232972C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0002|UniProtKB_(protein):Q96L58#VAR_070139;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514717 | |
| 1 1232977 290128 C T . . AF_EXAC=0.00000;ALLELEID=274365;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1232977C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766274999 | |
| 1 1233031 283369 G A . . AF_ESP=0.00025;AF_EXAC=0.00022;ALLELEID=267606;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.1233031G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370328225 | |
| 1 1233096 453100 A G . . AF_EXAC=0.00011;ALLELEID=442613;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1233096A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759357299 | |
| 1 1233103 516035 C T . . AF_EXAC=0.00011;ALLELEID=498055;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1233103C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769833251 | |
| 1 1233112 283589 G A . . AF_ESP=0.00024;AF_EXAC=0.00028;AF_TGP=0.00060;ALLELEID=267826;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1233112G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368078922 | |
| 1 1233131 283597 G A . . AF_ESP=0.00064;AF_EXAC=0.00046;AF_TGP=0.00060;ALLELEID=267834;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1233131G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201547600 | |
| 1 1233177 60487 G C . . ALLELEID=75082;CLNDISDB=MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED_CT:254100000;CLNDN=Spondyloepimetaphyseal_dysplasia_with_joint_laxity;CLNHGVS=NC_000001.11:g.1233177G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0004|UniProtKB_(protein):Q96L58#VAR_070140;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786200939 | |
| 1 1233187 193477 G A . . AF_ESP=0.00075;AF_EXAC=0.00101;AF_TGP=0.00180;ALLELEID=190641;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1233187G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=B3GALT6:126792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368507303 | |
| 1 1233203 60491 T A . . AF_EXAC=0.00000;ALLELEID=75086;CLNDISDB=MedGen:C3809210,OMIM:615349;CLNDN=Ehlers-Danlos_syndrome,_progeroid_type,_2;CLNHGVS=NC_000001.11:g.1233203T>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615291.0008|UniProtKB_(protein):Q96L58#VAR_070141;GENEINFO=B3GALT6:126792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514721 | |
| 1 1336392 391198 C T . . AF_EXAC=0.00001;ALLELEID=364458;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1336392C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DVL1:1855;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748742257 | |
| 1 1336453 445443 G A . . AF_ESP=0.00008;AF_EXAC=0.00009;ALLELEID=438715;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1336453G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DVL1:1855;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372681220 | |
| 1 1336498 504195 AC A . . ALLELEID=495052;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1336499delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553172962 | |
| 1 1337984 524041 CTGCTGACTCCCGG C . . ALLELEID=514413;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1337985_1337997del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553173356 | |
| 1 1337992 488046 TC T . . ALLELEID=481061;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1337993delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553173367 | |
| 1 1337992 488048 TCCCGGTGCTGCCGCTG T . . ALLELEID=481060;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1337993_1338008del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553173368 | |
| 1 1337999 488045 G GCTGCC . . ALLELEID=481062;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338000_1338004dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553173372 | |
| 1 1338000 208047 CT C . . ALLELEID=204306;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338001delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=797044837 | |
| 1 1338033 208050 TAGGCAGG C . . ALLELEID=204307;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338033_1338040delTAGGCAGGinsC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=OMIM_Allelic_Variant:601365.0006;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044840 | |
| 1 1338045 208043 AA G . . ALLELEID=204308;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338045_1338046delAAinsG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=OMIM_Allelic_Variant:601365.0002;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=797044833 | |
| 1 1338053 208049 TG T . . ALLELEID=204309;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338054delG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601365.0005;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044839 | |
| 1 1338086 208048 AC A . . ALLELEID=204310;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338087delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044838 | |
| 1 1338092 219223 AG A . . ALLELEID=217239;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338094delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=32;RS=869025220 | |
| 1 1338096 208045 CA C . . ALLELEID=204311;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338097delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601365.0004;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044835 | |
| 1 1338098 208044 GGGGGCAGCCGGGT G . . ALLELEID=204312;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338099_1338111delGGGGCAGCCGGGT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601365.0001;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=797044834 | |
| 1 1338107 208046 CG C . . ALLELEID=204313;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338108delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601365.0003;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=797044836 | |
| 1 1338107 488047 CGGGTGGGGCAGCG C . . ALLELEID=481063;CLNDISDB=MedGen:C4225363,OMIM:616331;CLNDN=Robinow_syndrome,_autosomal_dominant_2;CLNHGVS=NC_000001.11:g.1338108_1338120delGGGTGGGGCAGCG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553173420 | |
| 1 1338111 520999 TG T . . ALLELEID=511161;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.1338112delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553173425 | |
| 1 1338183 208189 TCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCAC T . . ALLELEID=204442;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1338184_1338268del;CLNREVSTAT=no_assertion_provided;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;RS=1553173467 | |
| 1 1338410 445553 T C . . AF_ESP=0.00239;AF_EXAC=0.00240;AF_TGP=0.00120;ALLELEID=438825;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1338410T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DVL1:1855;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140107023 | |
| 1 1338529 373812 G GGCATTGGC . . ALLELEID=359205;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1338530_1338537dupGCATTGGC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=DVL1:1855;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057518627 | |
| 1 1339388 391268 G A . . ALLELEID=364462;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1339388G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DVL1:1855;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524022 | |
| 1 1340424 599454 G C . . ALLELEID=590762;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1340424G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DVL1:1855;ORIGIN=1;RS=144365982 | |
| 1 1341659 376849 CCA C . . ALLELEID=363727;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1341660_1341661delCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=DVL1:1855;MC=SO:0001627|intron_variant;ORIGIN=1;RS=573517540 | |
| 1 1353913 402162 A T . . ALLELEID=389106;CLNDISDB=Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085;CLNDN=Abnormality_of_brain_morphology;CLNHGVS=NC_000001.11:g.1353913A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MXRA8:54587;MC=SO:0001583|missense_variant;ORIGIN=4;RS=374879755 | |
| 1 1512426 225697 C T . . ALLELEID=227512;CLNDISDB=MedGen:C4310677,OMIM:617183|MedGen:CN169374|MedGen:CN517202;CLNDN=Harel-Yoon_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.1512426C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_pathogenic(1)%3BPathogenic(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612316.0002;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant,SO:0001636|2KB_upstream_variant;ORIGIN=1;RS=1057517687 | |
| 1 1512441 503862 CCGCCAAGGCGGCG C . . ALLELEID=495058;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1512445_1512457delCAAGGCGGCGCGC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ATAD3A:55210;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553123762 | |
| 1 1516035 432628 C G . . AF_ESP=0.00054;AF_EXAC=0.00042;AF_TGP=0.00020;ALLELEID=425308;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1516035C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138594222 | |
| 1 1516057 452865 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=442620;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1516057C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=1;RS=546711654 | |
| 1 1517250 592109 GC G . . ALLELEID=583076;CLNDISDB=MedGen:C4310677,OMIM:617183;CLNDN=Harel-Yoon_syndrome;CLNHGVS=NC_000001.11:g.1517251del;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ATAD3A:55210;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 1517308 489346 C T . . ALLELEID=481563;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1517308C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=1020653590 | |
| 1 1520260 452740 C T . . ALLELEID=442621;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1520260C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1023182167 | |
| 1 1520284 452211 C T . . AF_EXAC=0.00001;ALLELEID=442622;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1520284C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001587|nonsense;ORIGIN=1;RS=755120064 | |
| 1 1520588 453143 G C . . ALLELEID=442623;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1520588G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553125725 | |
| 1 1520617 452866 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=442624;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1520617G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371490361 | |
| 1 1522810 587626 C A . . ALLELEID=578362;CLNDISDB=MedGen:C4310677,OMIM:617183;CLNDN=Harel-Yoon_syndrome;CLNHGVS=NC_000001.11:g.1522810C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=4 | |
| 1 1529299 225696 C T . . ALLELEID=227511;CLNDISDB=MedGen:C4310677,OMIM:617183|MedGen:CN517202;CLNDN=Harel-Yoon_syndrome|not_provided;CLNHGVS=NC_000001.11:g.1529299C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612316.0001;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057517686 | |
| 1 1534004 522903 C T . . AF_ESP=0.00031;AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=513492;CLNDISDB=MedGen:C4310677,OMIM:617183;CLNDN=Harel-Yoon_syndrome;CLNHGVS=NC_000001.11:g.1534004C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ATAD3A:55210;MC=SO:0001583|missense_variant;ORIGIN=4;RS=200344678 | |
| 1 1535370 161196 G A . . ALLELEID=171043;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;CLNDN=Spinocerebellar_ataxia_21;CLNHGVS=NC_000001.11:g.1535370G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616101.0005|UniProtKB_(protein):Q5SV17#VAR_071910;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=606231455 | |
| 1 1535372 161192 G A . . ALLELEID=171039;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773|MedGen:CN517202;CLNDN=Spinocerebellar_ataxia_21|not_provided;CLNHGVS=NC_000001.11:g.1535372G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616101.0001|UniProtKB_(protein):Q5SV17#VAR_071909;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=606231451 | |
| 1 1535392 161193 G C . . ALLELEID=171040;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;CLNDN=Spinocerebellar_ataxia_21;CLNHGVS=NC_000001.11:g.1535392G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616101.0002;GENEINFO=TMEM240:339453;MC=SO:0001587|nonsense;ORIGIN=1;RS=606231452 | |
| 1 1535428 593226 G A . . ALLELEID=584290;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1535428G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 1535457 393221 G A . . AF_EXAC=0.00012;ALLELEID=364388;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1535457G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763113928 | |
| 1 1535589 373233 C T . . AF_TGP=0.00020;ALLELEID=359223;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1535589C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=553883626 | |
| 1 1535616 161194 G A . . ALLELEID=171041;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;CLNDN=Spinocerebellar_ataxia_21;CLNHGVS=NC_000001.11:g.1535616G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616101.0003|UniProtKB_(protein):Q5SV17#VAR_071907;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=606231453 | |
| 1 1535618 437011 A G . . ALLELEID=427636;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1535618A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=948435492 | |
| 1 1535619 523023 C T . . ALLELEID=513493;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;CLNDN=Spinocerebellar_ataxia_21;CLNHGVS=NC_000001.11:g.1535619C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=4;RS=1045410944 | |
| 1 1535723 161195 G A . . AF_EXAC=0.00005;ALLELEID=171042;CLNDISDB=MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;CLNDN=Spinocerebellar_ataxia_21;CLNHGVS=NC_000001.11:g.1535723G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616101.0004|UniProtKB_(protein):Q5SV17#VAR_071906;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=606231454 | |
| 1 1535766 372833 C T . . ALLELEID=359235;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1535766C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TMEM240:339453;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057518011 | |
| 1 1615612 218832 C A . . AF_ESP=0.00115;AF_EXAC=0.00416;ALLELEID=215186;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1615612C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MIB2:142678;MC=SO:0001587|nonsense,SO:0001636|2KB_upstream_variant;ORIGIN=0;RS=199741261 | |
| 1 1655477 523444 T C . . ALLELEID=513897;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572;CLNDN=Seizures;CLNHGVS=NC_000001.11:g.1655477T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID00942;GENEINFO=CDK11B:984;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1553165542 | |
| 1 1705645 421783 TTTTC T . . ALLELEID=404982;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1705646_1705649delTTTC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDK11A:728642;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=754605532 | |
| 1 1787340 521025 GATC G . . ALLELEID=511192;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.1787341_1787343delATC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GNB1:2782;ORIGIN=1;RS=1553191393 | |
| 1 1787378 224718 C T . . ALLELEID=226495;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0002069,MedGen:C0494475;CLNDN=Neurodevelopmental_Disability|hypotonia|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Generalized_tonic-clonic_seizures;CLNHGVS=NC_000001.11:g.1787378C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P62873#VAR_076651;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=32;RS=869312826 | |
| 1 1789102 444148 G A . . AF_EXAC=0.00002;ALLELEID=437788;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1789102G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771603036 | |
| 1 1789139 452928 G C . . ALLELEID=442673;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.1789139G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553191757 | |
| 1 1804461 452797 C T . . ALLELEID=442675;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1804461C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553194155 | |
| 1 1804496 521213 T C . . ALLELEID=511195;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.1804496T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553194162 | |
| 1 1804503 444149 C T . . ALLELEID=437789;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1804503C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_pathogenic(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1231842600 | |
| 1 1804548 224717 T C . . ALLELEID=226496;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0002069,MedGen:C0494475|Human_Phenotype_Ontology:HP:0002376,MedGen:C1836830|Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834|Human_Phenotype_Ontology:HP:0002474,MedGen:C0454641|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|MedGen:C4310774,OMIM:616973|MedGen:CN517202;CLNDN=Neurodevelopmental_Disability|hypotonia|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Generalized_tonic-clonic_seizures|Developmental_regression|Focal_seizures_with_impairment_of_consciousness_or_awareness|Expressive_language_delay|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Mental_retardation,_autosomal_dominant_42|not_provided;CLNHGVS=NC_000001.11:g.1804548T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139380.0005|UniProtKB_(protein):P62873#VAR_076650;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=33;RS=869312825 | |
| 1 1804565 224716 A G . . ALLELEID=226497;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0000639,MedGen:C0028738|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001508,MedGen:C2315100|Human_Phenotype_Ontology:HP:0001510,MedGen:C0456070|Human_Phenotype_Ontology:HP:0002474,MedGen:C0454641|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268;CLNDN=Neurodevelopmental_Disability|hypotonia|Strabismus|Nystagmus|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Failure_to_thrive|Growth_delay|Expressive_language_delay|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|Feeding_difficulties|Cortical_visual_impairment;CLNHGVS=NC_000001.11:g.1804565A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P62873#VAR_076649;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=32;RS=869312824 | |
| 1 1806476 422536 T C . . ALLELEID=404989;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1806476T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064795844 | |
| 1 1806503 391609 A C . . ALLELEID=364646;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.1806503A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752746786 | |
| 1 1806503 208722 A G . . AF_EXAC=0.00001;ALLELEID=205216;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0000175,MedGen:C0008925,Orphanet:ORPHA2014|Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0000639,MedGen:C0028738|Human_Phenotype_Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421|Human_Phenotype_Ontology:HP:0001508,MedGen:C2315100|Human_Phenotype_Ontology:HP:0001510,MedGen:C0456070|Human_Phenotype_Ontology:HP:0002376,MedGen:C1836830|Human_Phenotype_Ontology:HP:0002474,MedGen:C0454641|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D030342,MedGen:C0950123|MedGen:C4310774,OMIM:616973|MedGen:CN517202;CLNDN=Neurodevelopmental_Disability|hypotonia|Cleft_palate|Strabismus|Nystagmus|Hypothyroidism|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Dystonia|Failure_to_thrive|Growth_delay|Developmental_regression|Expressive_language_delay|Limb_hypertonia|Inability_to_walk|Infantile_axial_hypotonia|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Upper_limb_hypertonia|Myelodysplastic_syndrome|Inborn_genetic_diseases|Mental_retardation,_autosomal_dominant_42|not_provided;CLNHGVS=NC_000001.11:g.1806503A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139380.0002|UniProtKB_(protein):P62873#VAR_076648;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=35;RS=752746786 | |
| 1 1806503 224715 A T . . ALLELEID=226498;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001508,MedGen:C2315100|Human_Phenotype_Ontology:HP:0001510,MedGen:C0456070|Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0008947,MedGen:C1860834|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268|MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED_CT:91857003|MedGen:C4310774,OMIM:616973;CLNDN=Neurodevelopmental_Disability|hypotonia|Seizures|Muscular_hypotonia|Global_developmental_delay|Failure_to_thrive|Growth_delay|Focal_seizures_with_impairment_of_consciousness_or_awareness|Limb_hypertonia|Infantile_muscular_hypotonia|Multifocal_epileptiform_discharges|Feeding_difficulties|Cortical_visual_impairment|Acute_lymphoid_leukemia|Mental_retardation,_autosomal_dominant_42;CLNHGVS=NC_000001.11:g.1806503A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139380.0003|UniProtKB_(protein):P62873#VAR_076647;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=34;RS=752746786 | |
| 1 1806509 224714 T C . . ALLELEID=226499;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001510,MedGen:C0456070|Human_Phenotype_Ontology:HP:0008947,MedGen:C1860834|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|MedGen:C4310774,OMIM:616973|MedGen:CN517202;CLNDN=Neurodevelopmental_Disability|hypotonia|Strabismus|Seizures|Muscular_hypotonia|Global_developmental_delay|Growth_delay|Infantile_muscular_hypotonia|EEG_with_generalized_epileptiform_discharges|Feeding_difficulties|Mental_retardation,_autosomal_dominant_42|not_provided;CLNHGVS=NC_000001.11:g.1806509T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139380.0004|UniProtKB_(protein):P62873#VAR_076646;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=869312823 | |
| 1 1806512 431082 C G . . ALLELEID=424605;CLNDISDB=MedGen:C4310774,OMIM:616973;CLNDN=Mental_retardation,_autosomal_dominant_42;CLNHGVS=NC_000001.11:g.1806512C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1135401746 | |
| 1 1806513 224713 C T . . AF_EXAC=0.00001;ALLELEID=226500;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|MeSH:D030342,MedGen:C0950123;CLNDN=Neurodevelopmental_Disability|hypotonia|Seizures|Muscular_hypotonia|Global_developmental_delay|Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.1806513C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P62873#VAR_076645;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=758432471 | |
| 1 1806514 224712 A C . . ALLELEID=226501;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001508,MedGen:C2315100|Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391;CLNDN=Neurodevelopmental_Disability|hypotonia|Strabismus|Seizures|Global_developmental_delay|Failure_to_thrive|Focal_seizures_with_impairment_of_consciousness_or_awareness|Limb_hypertonia;CLNHGVS=NC_000001.11:g.1806514A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P62873#VAR_076644;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=32;RS=869312822 | |
| 1 1806515 224711 T C . . ALLELEID=226502;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C0557874|Human_Phenotype_Ontology:HP:0008947,MedGen:C1860834|MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED_CT:91857003|MedGen:C4310774,OMIM:616973;CLNDN=Neurodevelopmental_Disability|hypotonia|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Infantile_muscular_hypotonia|Acute_lymphoid_leukemia|Mental_retardation,_autosomal_dominant_42;CLNHGVS=NC_000001.11:g.1806515T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139380.0001|UniProtKB_(protein):P62873#VAR_076643;GENEINFO=GNB1:2782;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=34;RS=869312821 | |
| 1 1815801 617622 C T . . ALLELEID=609017;CLNDISDB=MedGen:C4310774,OMIM:616973;CLNDN=Mental_retardation,_autosomal_dominant_42;CLNHGVS=NC_000001.11:g.1815801C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=The_Raphael_Recanati_Genetics_Institute,Rabin_Medical_Center:SUB4493571;GENEINFO=GNB1:2782;ORIGIN=32 | |
| 1 2019437 529513 C G . . ALLELEID=515490;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2019437C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1207791272 | |
| 1 2019501 573950 C T . . ALLELEID=557116;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2019501C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 2024923 256824 G A . . AF_ESP=0.81970;AF_EXAC=0.80444;AF_TGP=0.77556;ALLELEID=249668;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2024923G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2376805 | |
| 1 2024957 460016 C T . . AF_EXAC=0.00002;ALLELEID=447688;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2024957C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769857211 | |
| 1 2024969 460019 G C . . AF_EXAC=0.00007;ALLELEID=447653;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2024969G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773911493 | |
| 1 2025020 374418 C T . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=361304;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2025020C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147463074 | |
| 1 2025527 585895 A G . . ALLELEID=576457;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2025527A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2025531 460008 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=447663;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025531C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373508468 | |
| 1 2025586 529538 C T . . AF_ESP=0.00015;AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=515495;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025586C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149832567 | |
| 1 2025598 256823 T C . . AF_ESP=0.68430;AF_EXAC=0.59339;AF_TGP=0.56130;ALLELEID=249669;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.2025598T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229110 | |
| 1 2025652 529526 C T . . AF_EXAC=0.00004;ALLELEID=515484;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025652C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767409551 | |
| 1 2025660 580694 C T . . ALLELEID=556756;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025660C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2025673 460009 C T . . AF_ESP=0.00338;AF_EXAC=0.00260;AF_TGP=0.00200;ALLELEID=447690;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025673C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61742636 | |
| 1 2025682 460010 G A . . AF_ESP=0.00507;AF_EXAC=0.00149;AF_TGP=0.00339;ALLELEID=447710;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2025682G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=77892827 | |
| 1 2025739 592138 G C . . ALLELEID=583078;CLNDISDB=MedGen:C2751603,OMIM:613060;CLNDN=Epilepsy,_idiopathic_generalized_10;CLNHGVS=NC_000001.11:g.2025739G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001575|splice_donor_variant;ORIGIN=1 | |
| 1 2025744 447367 C T . . AF_ESP=0.00054;AF_EXAC=0.00031;AF_TGP=0.00020;ALLELEID=440428;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009|MedGen:CN169374;CLNDN=Idiopathic_generalized_epilepsy|not_specified;CLNHGVS=NC_000001.11:g.2025744C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202225187 | |
| 1 2027569 460011 C A . . AF_EXAC=0.00006;ALLELEID=447557;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2027569C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=748813137 | |
| 1 2027581 585896 A T . . ALLELEID=576458;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2027581A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2027598 460012 C T . . AF_ESP=0.00015;AF_EXAC=0.00009;ALLELEID=447712;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2027598C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367776284 | |
| 1 2027628 460013 C T . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=447670;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2027628C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=534661864 | |
| 1 2027636 16212 A C . . ALLELEID=31251;CLNDISDB=MedGen:C3150401;CLNDN=Generalized_epilepsy_with_febrile_seizures_plus_type_5;CLNHGVS=NC_000001.11:g.2027636A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:137163.0001|UniProtKB_(protein):O14764#VAR_043151;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121434580 | |
| 1 2028178 574644 G A . . ALLELEID=558323;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2028178G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2028197 447368 G A . . AF_EXAC=0.00008;ALLELEID=440429;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2028197G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779793371 | |
| 1 2028239 569949 A G . . ALLELEID=556758;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2028239A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2028259 529547 C T . . AF_ESP=0.00108;AF_EXAC=0.00099;AF_TGP=0.00040;ALLELEID=515488;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2028259C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139300921 | |
| 1 2028260 16213 G A . . AF_EXAC=0.01758;AF_TGP=0.00579;ALLELEID=31252;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009|MedGen:C2751603,OMIM:613060|MedGen:C2751604|MedGen:C3150401|MedGen:CN517202;CLNDN=Idiopathic_generalized_epilepsy|Epilepsy,_idiopathic_generalized_10|Epilepsy,_juvenile_myoclonic_7|Generalized_epilepsy_with_febrile_seizures_plus_type_5|not_provided;CLNHGVS=NC_000001.11:g.2028260G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign,_risk_factor;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:137163.0002|UniProtKB_(protein):O14764#VAR_043153;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41307846 | |
| 1 2028269 218470 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=215187;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2028269C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=0;RS=369511458 | |
| 1 2028285 529548 C T . . AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=515394;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2028285C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=558718893 | |
| 1 2029147 460014 T C . . ALLELEID=447714;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029147T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1248355743 | |
| 1 2029149 582133 C T . . ALLELEID=558325;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029149C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2029194 235308 G A . . AF_ESP=0.00054;AF_EXAC=0.00037;AF_TGP=0.00060;ALLELEID=236995;CLNDISDB=Human_Phenotype_Ontology:HP:0002353,MedGen:C0151611|MedGen:CN517202;CLNDN=EEG_abnormality|not_provided;CLNHGVS=NC_000001.11:g.2029194G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148908731 | |
| 1 2029235 256825 C T . . AF_ESP=0.09776;AF_EXAC=0.28733;AF_TGP=0.19828;ALLELEID=249670;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2029235C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28408173 | |
| 1 2029250 460015 C T . . AF_ESP=0.00116;AF_EXAC=0.00071;AF_TGP=0.00160;ALLELEID=447672;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029250C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148120771 | |
| 1 2029570 460017 G A . . AF_ESP=0.00008;ALLELEID=447427;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029570G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150619024 | |
| 1 2029631 529543 C T . . AF_EXAC=0.00001;ALLELEID=515552;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029631C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745961044 | |
| 1 2029672 460018 C A . . ALLELEID=447681;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029672C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146381127 | |
| 1 2029675 585897 C G . . ALLELEID=576459;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2029675C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 2029705 460002 C T . . AF_ESP=0.00238;AF_EXAC=0.00219;AF_TGP=0.00140;ALLELEID=447558;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029705C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41315330 | |
| 1 2029709 570423 G A . . ALLELEID=556793;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029709G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2029730 529511 G C . . ALLELEID=515405;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029730G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749316684 | |
| 1 2029969 256822 C T . . AF_ESP=0.09622;AF_TGP=0.19988;ALLELEID=249671;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2029969C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=28431879 | |
| 1 2029976 460003 C T . . AF_ESP=0.00046;AF_EXAC=0.00039;AF_TGP=0.00020;ALLELEID=447724;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009|MedGen:CN517202;CLNDN=Idiopathic_generalized_epilepsy|not_provided;CLNHGVS=NC_000001.11:g.2029976C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368961588 | |
| 1 2029988 529515 C G . . ALLELEID=515497;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2029988C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1031482653 | |
| 1 2030027 460004 C T . . AF_ESP=0.02035;AF_EXAC=0.03908;AF_TGP=0.03914;ALLELEID=447683;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030027C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28398772 | |
| 1 2030028 447365 G A . . ALLELEID=440430;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2030028G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759836961 | |
| 1 2030030 460005 C A . . AF_ESP=0.00139;AF_TGP=0.00040;ALLELEID=447685;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009|MedGen:C2751603,OMIM:613060;CLNDN=Idiopathic_generalized_epilepsy|Epilepsy,_idiopathic_generalized_10;CLNHGVS=NC_000001.11:g.2030030C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148300882 | |
| 1 2030031 375540 G A . . ALLELEID=362315;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888;CLNDN=Idiopathic_generalized_epilepsy|Epileptic_encephalopathy;CLNHGVS=NC_000001.11:g.2030031G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057519556 | |
| 1 2030069 529540 C A . . ALLELEID=515499;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030069C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374718450 | |
| 1 2030073 460006 C T . . AF_ESP=0.00054;AF_EXAC=0.00066;ALLELEID=447731;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030073C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79386457 | |
| 1 2030089 447366 G C . . AF_ESP=0.00015;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=440431;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2030089G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372742962 | |
| 1 2030097 529510 A G . . ALLELEID=515554;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030097A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553123940 | |
| 1 2030125 460007 C T . . AF_ESP=0.00662;AF_EXAC=0.00210;AF_TGP=0.00859;ALLELEID=447432;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030125C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=116604393 | |
| 1 2030137 585894 G C . . ALLELEID=576460;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2030137G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2030142 529529 G A . . AF_EXAC=0.00028;AF_TGP=0.00140;ALLELEID=515500;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030142G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143031542 | |
| 1 2030145 569706 C T . . ALLELEID=556795;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030145C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2030175 565597 C T . . ALLELEID=556797;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030175C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2030247 566016 G A . . ALLELEID=558327;CLNDISDB=Gene:1957,MedGen:C0270850,OMIM:600669,SNOMED_CT:36803009;CLNDN=Idiopathic_generalized_epilepsy;CLNHGVS=NC_000001.11:g.2030247G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GABRD:2563;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2150880 560255 C T . . ALLELEID=551277;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2150880C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Geisinger_Autism_and_Developmental_Medicine_Institute,Geisinger_Health_System:ADMI00066;GENEINFO=PRKCZ:5590;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 2228718 508030 G T . . ALLELEID=498427;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228718G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;ORIGIN=1;RS=866291734 | |
| 1 2228725 392772 G A . . ALLELEID=364806;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228725G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;ORIGIN=1;RS=1057524624 | |
| 1 2228739 393061 G T . . ALLELEID=364809;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228739G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;ORIGIN=1;RS=1057524766 | |
| 1 2228740 508459 G GAGCGGC . . ALLELEID=498215;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228741_2228746dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SKI:6497;ORIGIN=1;RS=1219383549 | |
| 1 2228748 386778 G A . . ALLELEID=364818;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228748G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;ORIGIN=1;RS=1003998999 | |
| 1 2228774 520156 C T . . ALLELEID=509137;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2228774C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553189801 | |
| 1 2228777 426734 C T . . ALLELEID=414765;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2228777C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1085307767 | |
| 1 2228778 545922 G GGCAGGCGGCC . . ALLELEID=536226;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2228781_2228790dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SKI:6497;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553189805 | |
| 1 2228795 520162 G A . . ALLELEID=509138;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2228795G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553189820 | |
| 1 2228808 618874 C T . . ALLELEID=609393;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2228808C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:163265;GENEINFO=SKI:6497;ORIGIN=1;RS=543603037 | |
| 1 2228825 409969 C T . . ALLELEID=391048;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228825C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060502671 | |
| 1 2228828 224869 T G . . ALLELEID=226716;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228828T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12755#VAR_071170;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=32;RS=869312902 | |
| 1 2228834 570752 A C . . ALLELEID=557155;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228834A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2228841 511227 C T . . ALLELEID=498430;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228841C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1486448334 | |
| 1 2228860 37259 C G . . ALLELEID=45849;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228860C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0002|UniProtKB_(protein):P12755#VAR_071173;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=387907304 | |
| 1 2228865 139112 C G . . AF_ESP=0.00450;AF_EXAC=0.01894;AF_TGP=0.00719;ALLELEID=142815;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2228865C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:13295;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200019352 | |
| 1 2228866 37261 G A . . ALLELEID=45851;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202;CLNDN=Inborn_genetic_diseases|Shprintzen-Goldberg_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2228866G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0004|UniProtKB_(protein):P12755#VAR_071176;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=387907306 | |
| 1 2228866 37262 G T . . ALLELEID=45852;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Inborn_genetic_diseases|Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228866G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0005|UniProtKB_(protein):P12755#VAR_071174;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=387907306 | |
| 1 2228867 37260 G A . . ALLELEID=45850;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228867G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0003|UniProtKB_(protein):P12755#VAR_071175;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=32;RS=387907305 | |
| 1 2228867 39783 G T . . ALLELEID=48382;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228867G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0007|UniProtKB_(protein):P12755#VAR_071177;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=0;RS=387907305 | |
| 1 2228869 39786 C T . . ALLELEID=48385;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228869C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Pathogenic(3)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0010|UniProtKB_(protein):P12755#VAR_071179;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397514590 | |
| 1 2228870 39785 C A . . ALLELEID=48384;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228870C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0009|UniProtKB_(protein):P12755#VAR_071178;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514589 | |
| 1 2228870 409977 C G . . ALLELEID=390987;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228870C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_pathogenic(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514589 | |
| 1 2228871 386838 G A . . AF_EXAC=0.00000;ALLELEID=364811;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2228871G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778180778 | |
| 1 2228882 463393 C T . . AF_EXAC=0.00008;ALLELEID=447643;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228882C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746485528 | |
| 1 2228889 532220 C G . . ALLELEID=515550;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228889C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1233566903 | |
| 1 2228895 463395 G A . . ALLELEID=447644;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228895G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1313492083 | |
| 1 2228904 213665 C T . . AF_EXAC=0.00122;ALLELEID=209445;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2228904C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745527890 | |
| 1 2228908 432531 A C . . ALLELEID=425338;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2228908A>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=946543006 | |
| 1 2228913 385331 G A . . ALLELEID=364907;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2228913G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1043627749 | |
| 1 2228948 582097 C T . . ALLELEID=556858;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228948C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2228949 463397 G C . . ALLELEID=447807;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228949G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774187595 | |
| 1 2228951 139113 C G . . AF_EXAC=0.09197;AF_TGP=0.04573;ALLELEID=142816;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2228951C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:5;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28384811 | |
| 1 2228955 409976 G GGTGCCC . . ALLELEID=391069;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228957_2228962dupTGCCCG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SKI:6497;ORIGIN=1;RS=1553189874 | |
| 1 2228982 193249 C T . . AF_EXAC=0.00102;ALLELEID=190413;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2228982C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(4)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:69016;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756778048 | |
| 1 2228991 532225 C T . . ALLELEID=515551;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228991C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553189880 | |
| 1 2228993 520167 T C . . AF_EXAC=0.00014;ALLELEID=509139;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2228993T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753070477 | |
| 1 2228995 532219 C T . . ALLELEID=515461;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2228995C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1370601989 | |
| 1 2229005 264471 A AGCC . . ALLELEID=257939;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229015_2229017dupGCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SKI:6497;ORIGIN=1;RS=746731483 | |
| 1 2229007 583134 C G . . ALLELEID=556860;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229007C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2229014 409973 C T . . ALLELEID=391061;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229014C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060502672 | |
| 1 2229024 520150 G T . . ALLELEID=509140;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229024G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780679449 | |
| 1 2229045 37263 GTCCGACCGC G . . ALLELEID=45853;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229049_2229057delGACCGCTCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:164780.0006;GENEINFO=SKI:6497;ORIGIN=33;RS=398122889 | |
| 1 2229045 39784 GTCCGACCGCTCC G . . ALLELEID=48383;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229046_2229057delTCCGACCGCTCC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:164780.0008;GENEINFO=SKI:6497;ORIGIN=1;RS=398122914 | |
| 1 2229060 213681 C T . . AF_ESP=0.01140;AF_EXAC=0.00393;AF_TGP=0.01318;ALLELEID=209446;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229060C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115746142 | |
| 1 2229077 264417 T C . . ALLELEID=257941;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229077T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886039149 | |
| 1 2229078 227947 A T . . AF_ESP=0.00015;AF_EXAC=0.00007;ALLELEID=228355;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229078A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368195821 | |
| 1 2229108 390742 G T . . ALLELEID=364910;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229108G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057523880 | |
| 1 2229113 37258 G A . . ALLELEID=45848;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229113G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164780.0001|UniProtKB_(protein):P12755#VAR_071182;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=387907303 | |
| 1 2229115 224868 G C . . ALLELEID=226717;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2229115G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12755#VAR_071183;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=869312901 | |
| 1 2229118 222819 G A . . ALLELEID=224190;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229118G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=869025525 | |
| 1 2229126 213682 C T . . AF_ESP=0.00015;AF_EXAC=0.00012;AF_TGP=0.00060;ALLELEID=209448;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229126C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:147644;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375024753 | |
| 1 2229150 520160 C T . . ALLELEID=509141;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229150C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=768420010 | |
| 1 2229159 264423 G A . . AF_EXAC=0.00001;ALLELEID=257943;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229159G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748004059 | |
| 1 2229165 463408 C T . . ALLELEID=447808;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229165C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=937379586 | |
| 1 2229183 213683 C T . . AF_ESP=0.00031;AF_TGP=0.00020;ALLELEID=209449;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229183C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144874401 | |
| 1 2229201 440270 G GCCT . . ALLELEID=433916;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229202_2229203insCTC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=SKI:6497;ORIGIN=1;RS=1553189924 | |
| 1 2229201 504002 G GCTC . . ALLELEID=495281;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229203_2229205dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SKI:6497;ORIGIN=1;RS=1553189926 | |
| 1 2229222 520165 C G . . ALLELEID=509142;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229222C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149898447 | |
| 1 2229222 139111 C T . . AF_ESP=0.01256;AF_EXAC=0.01070;AF_TGP=0.00499;ALLELEID=142814;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229222C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149898447 | |
| 1 2229227 575082 C T . . ALLELEID=557162;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229227C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2229230 373594 C G . . AF_EXAC=0.00006;AF_TGP=0.00040;ALLELEID=359313;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229230C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=559020511 | |
| 1 2229237 239478 G A . . AF_EXAC=0.00033;AF_TGP=0.00100;ALLELEID=238211;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229237G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=569206617 | |
| 1 2229253 239479 G A . . ALLELEID=238212;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229253G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=878854599 | |
| 1 2229261 258901 C T . . AF_EXAC=0.00003;ALLELEID=249732;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229261C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749438586 | |
| 1 2229265 213703 CT GG . . ALLELEID=209450;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2229265_2229266delCTinsGG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863223724 | |
| 1 2229277 450852 G A . . AF_EXAC=0.00002;ALLELEID=442725;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229277G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762117658 | |
| 1 2229282 520170 C G . . ALLELEID=509143;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229282C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=182513685 | |
| 1 2229282 516445 C T . . AF_TGP=0.00020;ALLELEID=498352;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229282C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=182513685 | |
| 1 2229305 495053 C A . . ALLELEID=486608;CLNDISDB=Human_Phenotype_Ontology:HP:0001519,MedGen:C1836996;CLNDN=Disproportionate_tall_stature;CLNHGVS=NC_000001.11:g.2229305C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:4_October_2017;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=32;RS=863223722 | |
| 1 2229305 213684 C T . . ALLELEID=209451;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229305C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_pathogenic(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=33;RS=863223722 | |
| 1 2229313 520166 G A . . ALLELEID=509144;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229313G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1290478159 | |
| 1 2229333 510551 G C . . AF_EXAC=0.00002;ALLELEID=498263;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229333G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752411031 | |
| 1 2229336 515819 C T . . ALLELEID=498431;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229336C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1253539827 | |
| 1 2229359 520171 C T . . ALLELEID=509145;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229359C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1371410513 | |
| 1 2229381 520152 C T . . ALLELEID=509146;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229381C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553189974 | |
| 1 2229391 264172 C A . . AF_EXAC=0.00005;ALLELEID=257942;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229391C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771298442 | |
| 1 2229401 463409 AGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGC A . . ALLELEID=447810;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229404_2229661del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;ORIGIN=1;RS=1553189986 | |
| 1 2229406 213685 A G . . AF_ESP=0.00039;AF_EXAC=0.00014;ALLELEID=209452;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229406A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139179843 | |
| 1 2229430 520153 C G . . ALLELEID=509147;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229430C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553189999 | |
| 1 2229453 513790 G A . . ALLELEID=498266;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229453G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750391739 | |
| 1 2229468 388701 C G . . ALLELEID=364813;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229468C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057523205 | |
| 1 2229492 381375 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=364674;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229492C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139227600 | |
| 1 2229502 424243 C T . . ALLELEID=405059;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229502C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064796874 | |
| 1 2229534 381998 G A . . ALLELEID=364823;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229534G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057521232 | |
| 1 2229562 504022 GC T . . ALLELEID=495330;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229562_2229563delGCinsT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SKI:6497;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553190048 | |
| 1 2229564 193248 C T . . AF_ESP=0.00093;AF_EXAC=0.00078;AF_TGP=0.00080;ALLELEID=190412;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2229564C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BLikely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149642284 | |
| 1 2229565 213663 C T . . AF_ESP=0.00039;AF_EXAC=0.00019;ALLELEID=209453;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229565C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140178396 | |
| 1 2229593 582951 T A . . ALLELEID=556862;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229593T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2229606 532224 C T . . ALLELEID=515463;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229606C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1423154745 | |
| 1 2229610 264492 C A . . AF_EXAC=0.00001;ALLELEID=257944;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229610C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753783431 | |
| 1 2229611 393089 G A . . ALLELEID=364679;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229611G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524781 | |
| 1 2229659 436729 C G . . ALLELEID=427715;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229659C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1233215789 | |
| 1 2229663 380753 C T . . AF_EXAC=0.00004;ALLELEID=364819;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2229663C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:169067;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773901705 | |
| 1 2229672 389154 C T . . AF_EXAC=0.00001;ALLELEID=364915;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229672C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772758586 | |
| 1 2229681 499239 C G . . ALLELEID=490663;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2229681C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=900879745 | |
| 1 2229684 520168 C T . . AF_EXAC=0.00002;ALLELEID=509148;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229684C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776475482 | |
| 1 2229685 213686 G A . . AF_EXAC=0.00003;ALLELEID=209454;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2229685G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775192483 | |
| 1 2229689 532223 A G . . ALLELEID=515587;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229689A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1276404635 | |
| 1 2229691 532221 G A . . ALLELEID=515556;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229691G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553190080 | |
| 1 2229696 532226 A G . . AF_EXAC=0.00006;ALLELEID=515558;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2229696A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751629802 | |
| 1 2229704 213687 A G . . AF_EXAC=0.00000;ALLELEID=209455;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2229704A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767730615 | |
| 1 2229714 213664 G A . . AF_ESP=0.00016;AF_EXAC=0.00012;ALLELEID=209456;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2229714G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:187939;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368128582 | |
| 1 2229730 264199 C T . . AF_EXAC=0.00000;ALLELEID=257945;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2229730C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779317743 | |
| 1 2302968 514455 T C . . AF_EXAC=0.00002;ALLELEID=498271;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2302968T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=750601690 | |
| 1 2302971 289941 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=274178;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.2302971A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199634070 | |
| 1 2302983 520164 C T . . AF_EXAC=0.00002;ALLELEID=509149;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2302983C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753145672 | |
| 1 2302994 567667 C T . . ALLELEID=557001;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2302994C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2303002 513013 A G . . AF_ESP=0.00008;AF_EXAC=0.00050;AF_TGP=0.00060;ALLELEID=498383;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303002A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374264201 | |
| 1 2303008 213688 C T . . AF_EXAC=0.00002;ALLELEID=209457;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303008C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775433131 | |
| 1 2303013 392801 A G . . ALLELEID=364935;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303013A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057524639 | |
| 1 2303033 493014 A G . . AF_ESP=0.00008;ALLELEID=485977;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2303033A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377336741 | |
| 1 2303040 513132 C T . . AF_EXAC=0.00001;ALLELEID=498457;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303040C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766656095 | |
| 1 2303041 213666 G A . . AF_ESP=0.00031;ALLELEID=209458;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303041G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150934009 | |
| 1 2303045 432707 CT C . . ALLELEID=425341;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303047delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553200666 | |
| 1 2303049 384269 C T . . AF_ESP=0.00008;AF_TGP=0.00020;ALLELEID=364878;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303049C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140745811 | |
| 1 2303076 389348 G A . . ALLELEID=364937;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303076G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057523408 | |
| 1 2303077 463392 C T . . AF_ESP=0.00008;ALLELEID=447787;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303077C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370418830 | |
| 1 2303078 213689 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=209459;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303078G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200874294 | |
| 1 2303089 222820 G A . . AF_EXAC=0.00002;ALLELEID=224191;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303089G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759663808 | |
| 1 2303275 507364 T G . . AF_EXAC=0.00001;ALLELEID=498225;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303275T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=752587204 | |
| 1 2303279 390923 C T . . AF_EXAC=0.00017;ALLELEID=364886;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303279C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201304370 | |
| 1 2303287 451982 C G . . ALLELEID=442734;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303287C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553200726 | |
| 1 2303298 449711 T C . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=442735;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303298T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138088528 | |
| 1 2303306 409970 C T . . AF_EXAC=0.00003;ALLELEID=391067;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303306C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749507746 | |
| 1 2303312 566759 C T . . ALLELEID=557171;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303312C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2303313 444150 G A . . AF_EXAC=0.00001;ALLELEID=437790;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2303313G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762209697 | |
| 1 2303328 213690 G A . . AF_EXAC=0.00001;ALLELEID=209461;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303328G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760033804 | |
| 1 2303341 520161 C T . . AF_TGP=0.00040;ALLELEID=509150;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303341C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200160702 | |
| 1 2303351 213667 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=209462;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303351G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376736872 | |
| 1 2303352 213668 C T . . AF_ESP=0.00408;AF_EXAC=0.00385;AF_TGP=0.00180;ALLELEID=209463;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2303352C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:38902;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75280988 | |
| 1 2303353 415896 G A . . AF_EXAC=0.00002;ALLELEID=391070;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303353G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780171614 | |
| 1 2303372 213691 C T . . AF_EXAC=0.00001;ALLELEID=209464;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303372C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773512836 | |
| 1 2303376 582886 A G . . ALLELEID=558357;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303376A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2303377 392508 C T . . ALLELEID=364903;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303377C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=998931386 | |
| 1 2303378 463394 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=447833;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303378C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371268096 | |
| 1 2303385 213692 C T . . AF_ESP=0.00138;AF_EXAC=0.00045;AF_TGP=0.00120;ALLELEID=209465;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2303385C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(4)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141862996 | |
| 1 2303386 386213 C A . . ALLELEID=364718;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303386C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057522450 | |
| 1 2303394 409972 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=390988;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303394G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=557289756 | |
| 1 2303410 213669 C T . . AF_EXAC=0.00008;ALLELEID=209466;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303410C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200242660 | |
| 1 2303411 213670 G A . . AF_ESP=0.01008;AF_TGP=0.01198;ALLELEID=209467;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303411G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115186522 | |
| 1 2303417 258899 C T . . AF_EXAC=0.00001;ALLELEID=249763;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303417C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=753878221 | |
| 1 2303419 258900 C T . . AF_ESP=0.00131;AF_EXAC=0.00047;AF_TGP=0.00220;ALLELEID=249764;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303419C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182600375 | |
| 1 2303832 213671 C T . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=209468;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2303832C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370921440 | |
| 1 2303871 222821 G A . . AF_EXAC=0.00002;ALLELEID=224192;CLNDISDB=MedGen:C1839796;CLNDN=Marfanoid_habitus;CLNHGVS=NC_000001.11:g.2303871G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770481744 | |
| 1 2303875 213693 C T . . ALLELEID=209469;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303875C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775044622 | |
| 1 2303882 392009 C T . . AF_EXAC=0.00060;AF_TGP=0.00120;ALLELEID=364908;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303882C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=536126761 | |
| 1 2303886 220793 G A . . AF_EXAC=0.00008;ALLELEID=221089;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303886G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:112839;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771862077 | |
| 1 2303891 520157 C G . . ALLELEID=509151;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303891C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773045410 | |
| 1 2303891 263904 C T . . AF_EXAC=0.00013;ALLELEID=257947;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303891C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773045410 | |
| 1 2303892 213707 G A . . AF_EXAC=0.00001;ALLELEID=209470;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303892G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760579911 | |
| 1 2303897 387432 G A . . AF_ESP=0.00016;AF_EXAC=0.00006;ALLELEID=364724;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303897G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375600617 | |
| 1 2303899 423663 C T . . AF_EXAC=0.00001;ALLELEID=405082;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303899C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764317955 | |
| 1 2303900 511096 G A . . AF_EXAC=0.00005;AF_TGP=0.00040;ALLELEID=498275;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303900G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=552946737 | |
| 1 2303922 449989 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=442736;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303922A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368739670 | |
| 1 2303929 213694 C T . . AF_EXAC=0.00002;ALLELEID=209471;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303929C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768068601 | |
| 1 2303930 520148 G A . . AF_ESP=0.00039;AF_EXAC=0.00012;AF_TGP=0.00040;ALLELEID=509152;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303930G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=111459205 | |
| 1 2303937 263895 G A . . AF_EXAC=0.00022;ALLELEID=257946;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303937G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=544709718 | |
| 1 2303939 227946 C G . . ALLELEID=228357;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2303939C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140889128 | |
| 1 2303939 139114 C T . . AF_ESP=0.00922;AF_TGP=0.00519;ALLELEID=142817;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2303939C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:32545;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140889128 | |
| 1 2303943 409971 G A . . ALLELEID=391083;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303943G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=575093513 | |
| 1 2303943 571509 G T . . ALLELEID=557173;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2303943G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2303957 385791 C T . . AF_ESP=0.00023;AF_EXAC=0.00011;ALLELEID=364938;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2303957C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150033567 | |
| 1 2303966 213672 C T . . AF_ESP=0.00123;AF_EXAC=0.00032;AF_TGP=0.00140;ALLELEID=209472;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2303966C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148632347 | |
| 1 2304012 409974 C G . . AF_ESP=0.00023;AF_EXAC=0.00028;AF_TGP=0.00020;ALLELEID=390989;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2304012C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199797772 | |
| 1 2304028 575219 C T . . ALLELEID=557175;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2304028C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2304034 532216 C T . . AF_EXAC=0.00005;ALLELEID=515578;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2304034C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746659856 | |
| 1 2304038 213673 C T . . AF_ESP=0.00285;AF_EXAC=0.00096;AF_TGP=0.00399;ALLELEID=209473;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2304038C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:13034;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150985728 | |
| 1 2304048 373583 C G . . ALLELEID=359238;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304048C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057518494 | |
| 1 2304049 451213 C T . . ALLELEID=442737;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304049C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553200918 | |
| 1 2304054 520163 G A . . ALLELEID=509153;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304054G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553200926 | |
| 1 2304066 520744 TCGGAGG T . . ALLELEID=511243;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.2304073_2304078delCGGAGG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;ORIGIN=1;RS=762410895 | |
| 1 2304068 497316 G A . . AF_EXAC=0.00029;AF_TGP=0.00100;ALLELEID=488740;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304068G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=185754530 | |
| 1 2304073 451641 C T . . AF_ESP=0.00008;ALLELEID=442738;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304073C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372475723 | |
| 1 2304073 450070 CG C . . ALLELEID=442739;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304075delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553200934 | |
| 1 2304074 139115 G A . . AF_ESP=0.00715;AF_EXAC=0.00609;AF_TGP=0.00260;ALLELEID=142818;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2304074G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:27176;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114345135 | |
| 1 2304084 229252 G A . . AF_EXAC=0.00000;AF_TGP=0.00020;ALLELEID=228358;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2304084G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200717031 | |
| 1 2304103 520159 G A . . ALLELEID=509154;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304103G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=112549942 | |
| 1 2304106 513310 C A . . ALLELEID=498389;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304106C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=780930093 | |
| 1 2304298 373745 T A . . ALLELEID=359326;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304298T>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781304969 | |
| 1 2304323 377202 C T . . ALLELEID=364080;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2304323C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057520161 | |
| 1 2304324 517682 G A . . ALLELEID=498458;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304324G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=975738197 | |
| 1 2304345 213674 C T . . AF_ESP=0.00329;AF_EXAC=0.00095;AF_TGP=0.00160;ALLELEID=209474;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2304345C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:126925;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=111935632 | |
| 1 2304346 213695 G A . . AF_ESP=0.00058;AF_EXAC=0.00024;AF_TGP=0.00040;ALLELEID=209475;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2304346G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61735580 | |
| 1 2304366 463396 G A . . ALLELEID=447788;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304366G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1239990628 | |
| 1 2304373 213696 C T . . AF_EXAC=0.00005;ALLELEID=209476;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304373C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775800782 | |
| 1 2304374 213675 G A . . AF_ESP=0.00008;AF_EXAC=0.00000;ALLELEID=209477;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304374G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376322470 | |
| 1 2304386 180522 C T . . AF_EXAC=0.00033;ALLELEID=178441;CLNDISDB=Human_Phenotype_Ontology:HP:0005294,MedGen:C0002949|MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Arterial_dissection|Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304386C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880212 | |
| 1 2304391 213676 G A . . AF_ESP=0.00032;AF_EXAC=0.00024;ALLELEID=209478;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304391G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141961299 | |
| 1 2304398 213704 ATGC A . . ALLELEID=209479;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304402_2304404delTGC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;ORIGIN=1;RS=863223725 | |
| 1 2304411 213677 T C . . AF_ESP=0.00039;AF_EXAC=0.00060;AF_TGP=0.00020;ALLELEID=209480;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304411T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144279718 | |
| 1 2304426 516984 T C . . ALLELEID=498392;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304426T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553201055 | |
| 1 2304437 213697 C T . . AF_EXAC=0.00000;ALLELEID=209481;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304437C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764786977 | |
| 1 2304438 415898 G A . . AF_EXAC=0.00000;AF_TGP=0.00020;ALLELEID=390993;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2304438G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=529842293 | |
| 1 2304450 213678 C T . . AF_ESP=0.00008;AF_EXAC=0.00009;ALLELEID=209482;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2304450C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373914574 | |
| 1 2304518 426770 T C . . ALLELEID=414774;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304518T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=887731777 | |
| 1 2304552 415897 C T . . AF_ESP=0.00031;AF_EXAC=0.00099;AF_TGP=0.00100;ALLELEID=391073;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2304552C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=117443908 | |
| 1 2304557 432018 C T . . ALLELEID=425342;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304557C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1397350089 | |
| 1 2304591 239476 C T . . AF_EXAC=0.00000;ALLELEID=238217;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2304591C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=780191562 | |
| 1 2304594 516036 G T . . ALLELEID=498286;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304594G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=181520853 | |
| 1 2304596 515061 C T . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=498461;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2304596C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202132957 | |
| 1 2306038 393207 G T . . ALLELEID=364914;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306038G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774196267 | |
| 1 2306049 520151 G A . . AF_EXAC=0.00003;ALLELEID=509155;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306049G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767488534 | |
| 1 2306080 532217 C T . . ALLELEID=515567;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306080C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863223727 | |
| 1 2306086 139116 C T . . AF_ESP=0.00447;AF_EXAC=0.00636;AF_TGP=0.00200;ALLELEID=142819;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306086C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35833638 | |
| 1 2306100 463398 C A . . ALLELEID=447852;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306100C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1044806468 | |
| 1 2306100 463399 C G . . ALLELEID=447789;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306100C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1044806468 | |
| 1 2306103 198156 G A . . AF_ESP=0.00085;AF_TGP=0.00120;ALLELEID=195317;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2306103G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146789646 | |
| 1 2306112 415894 C T . . ALLELEID=390971;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306112C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1002513362 | |
| 1 2306115 384451 C T . . AF_TGP=0.00020;ALLELEID=364920;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306115C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200702159 | |
| 1 2306118 520158 G A . . ALLELEID=509156;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306118G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748886393 | |
| 1 2306122 213705 GAGA G . . ALLELEID=209485;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306129_2306131delAGA;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;ORIGIN=1;RS=863223726 | |
| 1 2306129 213698 A T . . AF_EXAC=0.00009;ALLELEID=209484;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000001.11:g.2306129A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774106502 | |
| 1 2306139 415893 G A . . ALLELEID=391086;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306139G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771953750 | |
| 1 2306142 198155 C T . . AF_EXAC=0.00027;ALLELEID=195316;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2306142C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(3)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773151547 | |
| 1 2306158 520169 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=509157;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306158C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143354709 | |
| 1 2306175 520149 G T . . ALLELEID=509158;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306175G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199666240 | |
| 1 2306184 383505 G A . . ALLELEID=364733;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306184G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057521646 | |
| 1 2306187 463400 G T . . AF_EXAC=0.00003;ALLELEID=447792;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2306187G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751933078 | |
| 1 2306190 510514 G A . . AF_EXAC=0.00006;ALLELEID=498393;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306190G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757701064 | |
| 1 2306194 463401 C G . . ALLELEID=447532;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306194C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=555623960 | |
| 1 2306219 463402 C T . . AF_EXAC=0.00000;AF_TGP=0.00020;ALLELEID=447682;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306219C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=571976990 | |
| 1 2306220 493015 G T . . ALLELEID=485978;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2306220G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754572866 | |
| 1 2306223 239477 C T . . ALLELEID=238218;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306223C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878854598 | |
| 1 2306226 139117 C T . . AF_ESP=0.00399;AF_EXAC=0.01081;AF_TGP=0.00300;ALLELEID=142820;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306226C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201895384 | |
| 1 2306228 449665 T G . . ALLELEID=442740;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306228T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1421285699 | |
| 1 2306235 415895 C T . . ALLELEID=390995;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306235C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=973734662 | |
| 1 2306256 532222 C T . . ALLELEID=515615;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306256C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1265118842 | |
| 1 2306259 516383 G A . . AF_TGP=0.00020;ALLELEID=498228;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306259G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=533071160 | |
| 1 2306561 388616 C T . . ALLELEID=364745;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306561C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1057523169 | |
| 1 2306568 463403 C G . . ALLELEID=447533;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306568C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369496789 | |
| 1 2306585 213699 C G . . AF_EXAC=0.00367;ALLELEID=209486;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306585C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750838146 | |
| 1 2306585 432935 C T . . ALLELEID=425343;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306585C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750838146 | |
| 1 2306587 409975 T G . . ALLELEID=390973;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306587T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060502673 | |
| 1 2306591 415892 G A . . ALLELEID=391089;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202;CLNDN=Shprintzen-Goldberg_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2306591G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:175594;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1040803635 | |
| 1 2306592 572553 G A . . ALLELEID=557003;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306592G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2306606 463404 C G . . ALLELEID=447795;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306606C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1203179478 | |
| 1 2306630 463405 G T . . ALLELEID=447796;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306630G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1271020892 | |
| 1 2306634 213709 G A . . AF_EXAC=0.00008;ALLELEID=209487;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306634G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756553942 | |
| 1 2306636 520154 C T . . ALLELEID=509159;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306636C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1171554207 | |
| 1 2306639 463406 C A . . ALLELEID=447853;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306639C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1021794039 | |
| 1 2306642 386021 G C . . ALLELEID=364756;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306642G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057522396 | |
| 1 2306670 532215 C G . . ALLELEID=515502;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306670C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766929334 | |
| 1 2306689 532218 A G . . ALLELEID=515617;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306689A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553201549 | |
| 1 2306706 213710 T C . . ALLELEID=209488;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306706T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863223728 | |
| 1 2306718 451473 C T . . ALLELEID=442741;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306718C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1361712039 | |
| 1 2306719 213679 G A . . AF_EXAC=0.00027;ALLELEID=209489;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306719G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754486257 | |
| 1 2306731 213680 C G . . ALLELEID=209490;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306731C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863223721 | |
| 1 2306743 463407 G T . . ALLELEID=447797;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002;CLNDN=Shprintzen-Goldberg_syndrome;CLNHGVS=NC_000001.11:g.2306743G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1488554459 | |
| 1 2306746 520155 C A . . ALLELEID=509160;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306746C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1264586139 | |
| 1 2306749 440269 C T . . ALLELEID=433915;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306749C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553201577 | |
| 1 2306752 213700 A C . . AF_EXAC=0.00010;ALLELEID=209491;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2306752A>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747798210 | |
| 1 2306761 213701 C T . . AF_TGP=0.00060;ALLELEID=209492;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374;CLNDN=Shprintzen-Goldberg_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2306761C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372950890 | |
| 1 2306762 386048 G C . . AF_EXAC=0.00090;AF_TGP=0.00160;ALLELEID=364924;CLNDISDB=MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN169374|MedGen:CN230736;CLNDN=Shprintzen-Goldberg_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000001.11:g.2306762G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543584871 | |
| 1 2306765 222822 GATT G . . ALLELEID=224193;CLNDISDB=MedGen:C1839796;CLNDN=Marfanoid_habitus;CLNHGVS=NC_000001.11:g.2306766_2306768delATT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SKI:6497;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=869025526 | |
| 1 2306782 383970 C T . . AF_EXAC=0.00011;ALLELEID=364926;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2306782C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SKI:6497;ORIGIN=1;RS=746845280 | |
| 1 2404912 296252 C T . . AF_TGP=0.00040;ALLELEID=281775;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2404912C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:108;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=556816263 | |
| 1 2404928 296253 G A . . ALLELEID=280463;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2404928G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:655339;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046135 | |
| 1 2404931 296254 G A . . ALLELEID=280132;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2404931G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:468315;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046136 | |
| 1 2404968 296255 G A . . ALLELEID=280466;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2404968G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:797321;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046137 | |
| 1 2404984 296256 G T . . ALLELEID=280467;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2404984G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:617514;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046138 | |
| 1 2405021 296257 G GC . . ALLELEID=280468;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405022dupC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:656516;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046139 | |
| 1 2405034 296258 C T . . ALLELEID=280469;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405034C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:824084;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046140 | |
| 1 2405078 296259 C A . . ALLELEID=280133;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405078C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:446987;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046141 | |
| 1 2405139 296260 G A . . ALLELEID=280471;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405139G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:601819;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046142 | |
| 1 2405172 296261 G A . . ALLELEID=280134;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405172G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:817989;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=760677467 | |
| 1 2405267 296262 C T . . ALLELEID=281924;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405267C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:698858;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046143 | |
| 1 2405346 296263 C T . . ALLELEID=281926;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405346C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:486001;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=868844283 | |
| 1 2405356 296264 C T . . ALLELEID=281776;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405356C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:708739;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046144 | |
| 1 2405414 296265 C T . . AF_TGP=0.00879;ALLELEID=280473;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405414C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:757639;GENEINFO=PEX10:5192|RER1:11079;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=115735911 | |
| 1 2405456 296266 C T . . ALLELEID=281778;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405456C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:774224;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=539850807 | |
| 1 2405462 296267 G A . . ALLELEID=281935;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405462G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:656326;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=758081067 | |
| 1 2405593 296268 C T . . AF_TGP=0.30651;ALLELEID=280474;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405593C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:42;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1129171 | |
| 1 2405675 296269 T C . . ALLELEID=281936;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405675T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:738183;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046145 | |
| 1 2405750 296270 C T . . ALLELEID=281780;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2405750C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:551299;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046146 | |
| 1 2405755 262787 C T . . AF_ESP=0.03445;AF_TGP=0.06170;ALLELEID=249840;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2405755C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:72985;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3795270 | |
| 1 2405756 296271 G A . . AF_ESP=0.00069;AF_EXAC=0.00079;ALLELEID=280479;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2405756G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:232623;GENEINFO=PEX10:5192;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=367845280 | |
| 1 2405759 500892 C A . . AF_EXAC=0.00002;ALLELEID=492316;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2405759C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;ORIGIN=1;RS=760288494 | |
| 1 2405766 556763 T C . . ALLELEID=541143;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2405766T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;ORIGIN=0;RS=1358135448 | |
| 1 2405768 552841 A G . . ALLELEID=541019;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2405768A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;ORIGIN=0;RS=779199089 | |
| 1 2405770 296272 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=281940;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Zellweger_syndrome|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2405770C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:809565;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140890506 | |
| 1 2405780 500751 G A . . AF_ESP=0.00015;ALLELEID=492175;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2405780G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148903253 | |
| 1 2405792 556838 GCTT G . . ALLELEID=541164;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2405793_2405795del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;ORIGIN=0;RS=1553231582 | |
| 1 2405813 288707 C T . . ALLELEID=272944;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2405813C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043985 | |
| 1 2405815 162433 C T . . ALLELEID=172124;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2405815C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0009;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=724160001 | |
| 1 2405832 286858 C T . . AF_ESP=0.00008;AF_EXAC=0.00019;ALLELEID=271095;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2405832C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374891812 | |
| 1 2405836 555812 T G . . AF_EXAC=0.00000;ALLELEID=541166;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2405836T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001574|splice_acceptor_variant;ORIGIN=0;RS=758250423 | |
| 1 2405837 597492 G A . . ALLELEID=588553;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2405837G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 2405838 262791 C T . . AF_ESP=0.08205;AF_EXAC=0.15297;AF_TGP=0.08087;ALLELEID=249841;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2405838C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:12;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11586985 | |
| 1 2406483 554342 C G . . ALLELEID=541147;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406483C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=0;RS=1553231739 | |
| 1 2406483 557020 C T . . ALLELEID=541149;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406483C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=0;RS=1553231739 | |
| 1 2406500 283862 G A . . AF_ESP=0.00038;AF_EXAC=0.00027;AF_TGP=0.00040;ALLELEID=268099;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2406500G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:111711;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78620392 | |
| 1 2406514 551349 CCAG C . . ALLELEID=541171;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406515_2406517del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;ORIGIN=0;RS=1438047457 | |
| 1 2406526 6771 G C . . ALLELEID=21810;CLNDISDB=MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406526G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0002;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61752095 | |
| 1 2406528 552930 G C . . ALLELEID=541123;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406528G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=61752094 | |
| 1 2406528 197886 G GC . . ALLELEID=195047;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406528_2406529insC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044762 | |
| 1 2406538 558664 C CGTG . . ALLELEID=541124;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406539_2406541dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PEX10:5192;ORIGIN=0;RS=1553231765 | |
| 1 2406553 262790 C T . . AF_ESP=0.00792;AF_EXAC=0.00237;AF_TGP=0.01018;ALLELEID=249842;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLNDN=Zellweger_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2406553C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:777304;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35082957 | |
| 1 2406557 497613 C T . . AF_EXAC=0.00008;ALLELEID=489037;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406557C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=758678654 | |
| 1 2406558 286808 G A . . AF_EXAC=0.00001;ALLELEID=271045;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406558G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750424221 | |
| 1 2406561 282334 C A . . ALLELEID=266571;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406561C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001587|nonsense;ORIGIN=1;RS=62641225 | |
| 1 2406566 162432 A G . . ALLELEID=172123;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406566A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0008;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=724160000 | |
| 1 2406569 558445 C A . . ALLELEID=541153;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406569C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1414973726 | |
| 1 2406576 197887 T C . . AF_ESP=0.02091;AF_EXAC=0.01908;AF_TGP=0.00859;ALLELEID=195048;CLNDISDB=MedGen:C1864399|MedGen:CN169374;CLNDN=Peroxisome_biogenesis_disorder,_complementation_group_7|not_specified;CLNHGVS=NC_000001.11:g.2406576T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34154371 | |
| 1 2406580 289743 C A . . AF_ESP=0.00046;AF_EXAC=0.00008;AF_TGP=0.00040;ALLELEID=273980;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406580C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144440263 | |
| 1 2406580 555297 CA C . . ALLELEID=541178;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406581del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553231783 | |
| 1 2406580 296273 CAG C . . ALLELEID=281791;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:C1832200,Orphanet:ORPHA79189|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Zellweger_syndrome|Peroxisome_biogenesis_disorders,_Zellweger_syndrome_spectrum|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2406581_2406582delAG;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:639027;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=61752093 | |
| 1 2406584 289191 G A . . AF_ESP=0.00046;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=273428;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406584G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142088776 | |
| 1 2406585 286993 G T . . ALLELEID=271230;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406585G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043542 | |
| 1 2406599 553074 GCT G . . ALLELEID=541180;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406600_2406601del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553231787 | |
| 1 2406606 553702 C A . . ALLELEID=541156;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406606C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001587|nonsense;ORIGIN=0;RS=769251149 | |
| 1 2406712 296274 G A . . AF_ESP=0.00023;AF_EXAC=0.00026;ALLELEID=280483;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2406712G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:783557;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370594705 | |
| 1 2406718 555007 A G . . ALLELEID=541158;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406718A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=0;RS=1335685844 | |
| 1 2406718 553321 A T . . ALLELEID=541183;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406718A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=0;RS=1335685844 | |
| 1 2406719 225040 C G . . ALLELEID=226879;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.2406719C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=869312935 | |
| 1 2406723 290110 C T . . AF_EXAC=0.00006;ALLELEID=274347;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406723C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773147980 | |
| 1 2406731 498108 C T . . AF_ESP=0.00054;AF_EXAC=0.00011;AF_TGP=0.00140;ALLELEID=489532;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406731C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140133667 | |
| 1 2406734 554630 GC G . . ALLELEID=541126;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2406735del;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553231820 | |
| 1 2406736 296275 C T . . AF_EXAC=0.00003;ALLELEID=281804;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Zellweger_syndrome|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406736C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:722309;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761942658 | |
| 1 2406738 596170 C T . . ALLELEID=587231;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406738C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2406739 594805 G A . . ALLELEID=585867;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406739G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2406739 550383 GGT G . . ALLELEID=541129;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406740_2406741del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1325771720 | |
| 1 2406756 500567 T C . . ALLELEID=491991;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406756T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553231833 | |
| 1 2406765 594956 C G . . ALLELEID=586018;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406765C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2406766 162435 G A . . ALLELEID=172126;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406766G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0011|OMIM_Allelic_Variant:602859.0012;GENEINFO=PEX10:5192;MC=SO:0001587|nonsense;ORIGIN=1;RS=61752092 | |
| 1 2406784 197385 C G . . AF_ESP=0.00100;AF_TGP=0.00180;ALLELEID=194546;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406784C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61736380 | |
| 1 2406785 296276 G A . . AF_EXAC=0.00004;ALLELEID=280485;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Zellweger_syndrome|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406785G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:262750;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761005209 | |
| 1 2406791 6774 C CT . . AF_EXAC=0.00002;ALLELEID=21813;CLNDISDB=MedGen:C1864399|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2406792dupT;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:602859.0005;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=61750435 | |
| 1 2406792 557464 TGCAGCCCCATGG T . . ALLELEID=541021;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406793_2406804del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;ORIGIN=0;RS=768893724 | |
| 1 2406811 296277 C G . . AF_ESP=0.00624;AF_EXAC=0.00206;AF_TGP=0.00659;ALLELEID=280137;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2406811C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:659473;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139345520 | |
| 1 2406828 594599 A G . . ALLELEID=585662;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406828A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2406838 500334 G GCAGCCT . . ALLELEID=491758;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406839_2406844dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PEX10:5192;ORIGIN=1;RS=1432526114 | |
| 1 2406855 291156 C T . . AF_ESP=0.00008;ALLELEID=275393;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406855C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368143757 | |
| 1 2406856 446046 G A . . AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=439318;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406856G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=536486149 | |
| 1 2406863 594986 C G . . ALLELEID=586048;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406863C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 2406869 498837 C T . . AF_ESP=0.00046;AF_TGP=0.00080;ALLELEID=490261;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2406869C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141430704 | |
| 1 2406885 197386 C T . . AF_EXAC=0.00034;AF_TGP=0.00100;ALLELEID=194547;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2406885C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:621954;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199934621 | |
| 1 2406891 498828 C T . . AF_ESP=0.00008;AF_EXAC=0.00015;ALLELEID=490252;CLNDISDB=MedGen:C1864399|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder,_complementation_group_7|not_provided;CLNHGVS=NC_000001.11:g.2406891C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371979619 | |
| 1 2406917 551969 ACT A . . ALLELEID=541140;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406918_2406919del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=0;RS=1553231875 | |
| 1 2406920 550051 CA GAG . . ALLELEID=541033;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406920_2406921delCAinsGAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=0;RS=1553231888 | |
| 1 2406922 500033 T C . . AF_ESP=0.00069;AF_EXAC=0.00038;AF_TGP=0.00080;ALLELEID=491457;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406922T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=144264865 | |
| 1 2406931 556606 TGA T . . ALLELEID=541160;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2406932_2406933del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=0;RS=1553231896 | |
| 1 2406950 501512 C T . . AF_EXAC=0.00003;ALLELEID=492936;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2406950C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=751098874 | |
| 1 2406970 296278 C T . . ALLELEID=281805;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2406970C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:463638;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369211467 | |
| 1 2408450 553280 AC A . . ALLELEID=541038;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408451del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=0;RS=1553232077 | |
| 1 2408451 6770 C T . . AF_EXAC=0.00001;ALLELEID=21809;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2408451C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0001;GENEINFO=PEX10:5192;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608183 | |
| 1 2408469 596280 G A . . ALLELEID=587341;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408469G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408497 296279 G A . . AF_EXAC=0.00016;AF_TGP=0.00200;ALLELEID=281806;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2408497G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636409;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75377471 | |
| 1 2408525 593419 C T . . ALLELEID=584483;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408525C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408546 501018 T C . . AF_EXAC=0.00001;ALLELEID=492442;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408546T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776308498 | |
| 1 2408557 196588 G A . . AF_ESP=0.00215;AF_EXAC=0.00050;AF_TGP=0.00120;ALLELEID=193749;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2408557G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150344828 | |
| 1 2408568 498762 G A . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=490186;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408568G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=570706924 | |
| 1 2408606 289259 G A . . AF_EXAC=0.00002;ALLELEID=273496;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408606G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764948458 | |
| 1 2408616 452215 G C . . ALLELEID=442784;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2408616G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1184194956 | |
| 1 2408617 559056 C T . . AF_ESP=0.00008;AF_TGP=0.00399;ALLELEID=549520;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408617C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=368273118 | |
| 1 2408621 559057 C G . . AF_EXAC=0.00003;ALLELEID=549521;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408621C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=760785367 | |
| 1 2408625 499521 G A . . AF_TGP=0.00040;ALLELEID=490945;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408625G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199667764 | |
| 1 2408627 596702 C T . . ALLELEID=587763;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408627C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408628 499527 G A . . AF_ESP=0.00031;AF_EXAC=0.00006;ALLELEID=490951;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408628G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372914003 | |
| 1 2408629 596430 C T . . ALLELEID=587491;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408629C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 2408634 296280 C G . . AF_EXAC=0.00034;AF_TGP=0.00060;ALLELEID=281810;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2408634C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:247344;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76530653 | |
| 1 2408674 593283 G A . . ALLELEID=584347;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408674G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 2408679 6772 G A . . ALLELEID=21811;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408679G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0003;GENEINFO=PEX10:5192;MC=SO:0001587|nonsense;ORIGIN=1;RS=61750434 | |
| 1 2408689 595575 G A . . ALLELEID=586637;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408689G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 2408700 371748 G A . . AF_ESP=0.00008;ALLELEID=357074;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408700G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001587|nonsense;ORIGIN=0;RS=369965266 | |
| 1 2408704 500326 C T . . ALLELEID=491750;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408704C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553232160 | |
| 1 2408713 235465 CA C . . ALLELEID=237148;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408714delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853044 | |
| 1 2408714 162431 AG A . . ALLELEID=172122;CLNDISDB=MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408715delG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602859.0007;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=724159999 | |
| 1 2408719 289556 G A . . ALLELEID=273793;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408719G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781710848 | |
| 1 2408720 559058 A G . . AF_ESP=0.00523;AF_EXAC=0.00159;AF_TGP=0.00719;ALLELEID=549522;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408720A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=35426403 | |
| 1 2408734 262789 C T . . AF_ESP=0.00769;AF_EXAC=0.00693;AF_TGP=0.00339;ALLELEID=249843;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLNDN=Zellweger_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2408734C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:135365;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146452560 | |
| 1 2408736 296281 G A . . AF_ESP=0.00062;AF_EXAC=0.00034;ALLELEID=280503;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_provided;CLNHGVS=NC_000001.11:g.2408736G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:665853;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140340426 | |
| 1 2408761 129884 T C . . AF_ESP=0.74381;AF_TGP=0.69888;ALLELEID=135330;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2408761T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:57;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2494598 | |
| 1 2408761 291010 TG CA . . ALLELEID=275247;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408761_2408762delTGinsCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044619 | |
| 1 2408772 296282 C T . . AF_ESP=0.00008;AF_EXAC=0.00012;ALLELEID=281811;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2408772C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:803412;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142626035 | |
| 1 2408773 129883 G A . . AF_ESP=0.04644;AF_EXAC=0.05326;AF_TGP=0.01997;ALLELEID=135329;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLNDN=Zellweger_syndrome|not_specified;CLNHGVS=NC_000001.11:g.2408773G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59704;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1143016 | |
| 1 2408777 296283 C T . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=281812;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Zellweger_syndrome|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408777C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:747626;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375649043 | |
| 1 2408778 500164 G A . . ALLELEID=491588;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408778G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1214996893 | |
| 1 2408781 598635 G A . . ALLELEID=589696;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408781G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408784 497782 G A . . AF_EXAC=0.00016;ALLELEID=489206;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408784G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775772867 | |
| 1 2408786 594806 G A . . ALLELEID=585868;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408786G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408786 501854 G C . . ALLELEID=493278;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408786G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769847524 | |
| 1 2408805 498023 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=489447;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408805G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377135853 | |
| 1 2408819 555942 T C . . AF_EXAC=0.00001;ALLELEID=541142;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408819T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=766966222 | |
| 1 2408832 598728 C T . . ALLELEID=589789;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2408832C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2408841 557602 C T . . ALLELEID=541040;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2408841C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1291325133 | |
| 1 2408863 262788 G A . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=249844;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2408863G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:722311;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375032738 | |
| 1 2410440 436285 A T . . ALLELEID=427756;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2410440A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1;RS=942392032 | |
| 1 2410448 592470 G A . . ALLELEID=583507;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2410448G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 2410452 553007 C T . . ALLELEID=541162;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2410452C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001574|splice_acceptor_variant;ORIGIN=0;RS=867305222 | |
| 1 2410477 559059 G A . . AF_ESP=0.00546;AF_EXAC=0.00649;AF_TGP=0.00319;ALLELEID=549523;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2410477G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001627|intron_variant;ORIGIN=0;RS=41315652 | |
| 1 2412425 500895 C T . . ALLELEID=492319;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2412425C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=987035031 | |
| 1 2412476 555863 CG C . . ALLELEID=541173;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2412477del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553232917 | |
| 1 2412482 554655 GC G . . ALLELEID=541041;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2412483del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553232926 | |
| 1 2412497 284321 G C . . AF_EXAC=0.01718;AF_TGP=0.00439;ALLELEID=268558;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374|MedGen:CN517202;CLNDN=Zellweger_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.2412497G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:84510;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112471479 | |
| 1 2412498 449304 GC G . . ALLELEID=442785;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2412499delC;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62636524 | |
| 1 2412501 162434 A G . . ALLELEID=172125;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;CLNHGVS=NC_000001.11:g.2412501A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602859.0010;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=724160002 | |
| 1 2412502 280002 T C . . ALLELEID=263985;CLNDISDB=MedGen:C3553947,OMIM:614870|MedGen:C3553948,OMIM:614871|MedGen:CN517202;CLNDN=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B|not_provided;CLNHGVS=NC_000001.11:g.2412502T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886041314 | |
| 1 2412505 593899 C T . . ALLELEID=584962;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2412505C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PEX10:5192|PLCH2:9651;ORIGIN=1 | |
| 1 2412552 296284 CCA C . . ALLELEID=281942;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNDN=Zellweger_syndrome;CLNHGVS=NC_000001.11:g.2412553_2412554delCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:752282;GENEINFO=PEX10:5192|PLCH2:9651;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=570192538 | |
| 1 2556714 135349 A G . . AF_ESP=0.55803;AF_EXAC=0.54431;AF_TGP=0.61482;ALLELEID=139088;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2556714A>G;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q92956#VAR_013007;GENEINFO=TNFRSF14:8764|TNFRSF14-AS1:115110;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4870 | |
| 1 2559013 133394 C T . . AF_EXAC=0.00106;AF_TGP=0.00499;ALLELEID=137133;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559013C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11573975 | |
| 1 2559074 133395 C G . . AF_TGP=0.00899;ALLELEID=137134;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559074C>G;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11573976 | |
| 1 2559092 133396 C T . . ALLELEID=137135;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559092C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777980 | |
| 1 2559110 133397 C T . . AF_EXAC=0.00019;ALLELEID=137136;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559110C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777981 | |
| 1 2559169 133398 A G . . AF_TGP=0.00020;ALLELEID=137137;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559169A>G;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=565961218 | |
| 1 2559170 133399 T C . . AF_EXAC=0.00613;AF_TGP=0.00140;ALLELEID=137138;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559170T>C;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148507536 | |
| 1 2559347 133400 C T . . AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=137139;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559347C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=535767072 | |
| 1 2559361 133401 G T . . ALLELEID=137140;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559361G>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777985 | |
| 1 2559422 133402 G T . . ALLELEID=137141;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559422G>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777986 | |
| 1 2559426 133403 T A . . ALLELEID=137142;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559426T>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777987 | |
| 1 2559459 133404 C A . . AF_EXAC=0.58991;AF_TGP=0.64078;ALLELEID=137143;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559459C>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2257763 | |
| 1 2559495 133405 C A . . AF_EXAC=0.00049;ALLELEID=137144;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559495C>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143920314 | |
| 1 2559503 133406 C A . . AF_TGP=0.59784;ALLELEID=137145;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559503C>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2281852 | |
| 1 2559515 133407 C T . . AF_EXAC=0.00008;AF_TGP=0.00060;ALLELEID=137146;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559515C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=559512818 | |
| 1 2559574 133408 C T . . ALLELEID=137147;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559574C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777992 | |
| 1 2559622 133409 G A . . AF_EXAC=0.00024;AF_TGP=0.00200;ALLELEID=137148;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559622G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112070015 | |
| 1 2559632 133410 C G . . AF_TGP=0.00200;ALLELEID=137149;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559632C>G;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143696469 | |
| 1 2559632 133411 C T . . ALLELEID=137150;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559632C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143696469 | |
| 1 2559652 133412 G A . . AF_EXAC=0.00015;ALLELEID=137151;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559652G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777995 | |
| 1 2559725 133413 G A . . AF_EXAC=0.01977;AF_TGP=0.01158;ALLELEID=137152;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559725G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2234160 | |
| 1 2559764 133415 CCC ACT . . ALLELEID=137154;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559764_2559766delCCCinsACT;CLNREVSTAT=no_assertion_provided;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777998 | |
| 1 2559766 133414 C T . . AF_EXAC=0.65961;AF_TGP=0.64397;ALLELEID=137153;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559766C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2234161 | |
| 1 2559866 135350 C T . . AF_ESP=0.01148;AF_TGP=0.00958;ALLELEID=139089;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559866C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2234162 | |
| 1 2559867 135353 G A . . AF_ESP=0.01572;AF_EXAC=0.01589;AF_TGP=0.02117;ALLELEID=139092;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559867G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q92956#VAR_018955;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2234163 | |
| 1 2559923 135351 C T . . AF_EXAC=0.00002;ALLELEID=139090;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559923C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587778716 | |
| 1 2559926 135352 C T . . AF_ESP=0.00054;AF_EXAC=0.00028;AF_TGP=0.00060;ALLELEID=139091;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2559926C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35239228 | |
| 1 2560684 135354 G A . . AF_ESP=0.00700;AF_EXAC=0.00183;AF_TGP=0.00659;ALLELEID=139093;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2560684G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q92956#VAR_018956;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11573986 | |
| 1 2561507 133416 AG A . . ALLELEID=137155;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2561508delG;CLNREVSTAT=no_assertion_provided;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149579135 | |
| 1 2561533 133417 C T . . ALLELEID=137156;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2561533C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587778000 | |
| 1 2561679 91954 C G . . ALLELEID=97432;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.2561679C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=2;RS=386352373 | |
| 1 2562891 135355 G A . . AF_ESP=0.12333;AF_EXAC=0.12953;AF_TGP=0.11382;ALLELEID=139094;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2562891G>A;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q92956#VAR_013440;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=2234167 | |
| 1 2563206 135356 C T . . AF_ESP=0.00008;AF_EXAC=0.00141;AF_TGP=0.00160;ALLELEID=139095;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2563206C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=371087831 | |
| 1 2563218 135357 C T . . AF_EXAC=0.00002;ALLELEID=139096;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.2563218C>T;CLNREVSTAT=no_assertion_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587778717 | |
| 1 3069243 509097 T C . . AF_EXAC=0.00003;ALLELEID=498396;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3069243T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;ORIGIN=1;RS=774793829 | |
| 1 3069246 228319 C A . . AF_ESP=0.00113;AF_TGP=0.00220;ALLELEID=228411;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3069246C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=180925565 | |
| 1 3069280 390136 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=365123;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3069280G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370334235 | |
| 1 3186110 227038 C T . . AF_ESP=0.00529;AF_TGP=0.00919;ALLELEID=228410;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186110C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9662053 | |
| 1 3186111 229168 G A . . AF_ESP=0.00062;AF_EXAC=0.00056;ALLELEID=228412;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186111G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368409902 | |
| 1 3186130 451384 G A . . AF_EXAC=0.00005;ALLELEID=442820;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186130G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201559520 | |
| 1 3186135 569498 CGTT C . . ALLELEID=557289;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186138_3186140del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1 | |
| 1 3186136 474437 G A . . AF_ESP=0.00101;AF_TGP=0.00120;ALLELEID=448102;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186136G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183153140 | |
| 1 3186136 474438 G T . . ALLELEID=447765;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186136G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183153140 | |
| 1 3186163 474439 C T . . AF_EXAC=0.00004;ALLELEID=447766;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186163C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769704263 | |
| 1 3186187 227857 G A . . AF_ESP=0.00203;AF_EXAC=0.00202;AF_TGP=0.00120;ALLELEID=228413;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186187G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=187194973 | |
| 1 3186188 406246 C T . . ALLELEID=391167;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186188C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779535977 | |
| 1 3186189 474401 G A . . AF_ESP=0.00031;AF_EXAC=0.00013;AF_TGP=0.00040;ALLELEID=447768;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186189G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374918897 | |
| 1 3186195 512567 C T . . AF_EXAC=0.00003;ALLELEID=498577;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186195C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770557050 | |
| 1 3186196 576283 G A . . ALLELEID=558473;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186196G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3186201 516028 C T . . AF_ESP=0.00016;AF_EXAC=0.00004;ALLELEID=498434;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186201C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372823594 | |
| 1 3186229 241420 G A . . AF_ESP=0.00039;AF_EXAC=0.00076;ALLELEID=238267;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186229G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199968728 | |
| 1 3186233 423614 G A . . ALLELEID=405157;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186233G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754043874 | |
| 1 3186258 510574 C T . . AF_ESP=0.00008;AF_EXAC=0.00010;ALLELEID=498435;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186258C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369648897 | |
| 1 3186284 474414 C T . . AF_ESP=0.00016;AF_EXAC=0.00001;ALLELEID=448074;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186284C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374012976 | |
| 1 3186287 406237 C T . . ALLELEID=391187;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186287C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060501005 | |
| 1 3186288 227864 G A . . AF_ESP=0.00194;AF_EXAC=0.00215;AF_TGP=0.00120;ALLELEID=228414;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186288G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199614349 | |
| 1 3186339 504756 C T . . AF_ESP=0.00008;AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=496162;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186339C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370290776 | |
| 1 3186419 474427 G A . . AF_EXAC=0.00004;ALLELEID=448076;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186419G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755705452 | |
| 1 3186427 569721 G A . . ALLELEID=557291;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186427G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3186434 391742 T C . . ALLELEID=365215;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3186434T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524218 | |
| 1 3186440 474433 G A . . AF_EXAC=0.00011;AF_TGP=0.00040;ALLELEID=447770;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186440G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=538278091 | |
| 1 3186447 541393 G A . . AF_EXAC=0.00005;ALLELEID=515772;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3186447G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775922979 | |
| 1 3186480 227039 C T . . AF_ESP=0.00331;AF_EXAC=0.00166;AF_TGP=0.00200;ALLELEID=228415;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3186480C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369010644 | |
| 1 3244097 451127 C T . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=442821;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3244097C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=530119550 | |
| 1 3244102 432894 G A . . AF_ESP=0.00016;AF_EXAC=0.00003;ALLELEID=425363;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3244102G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372159539 | |
| 1 3244112 505232 C T . . AF_EXAC=0.00002;ALLELEID=496622;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3244112C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=552668116 | |
| 1 3244128 227040 C T . . AF_ESP=0.00103;AF_EXAC=0.00021;AF_TGP=0.00060;ALLELEID=228416;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3244128C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150097149 | |
| 1 3385148 413869 G T . . ALLELEID=391188;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3385148G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1060504136 | |
| 1 3385157 227041 C T . . AF_ESP=0.20489;AF_EXAC=0.32950;AF_TGP=0.34046;ALLELEID=228417;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3385157C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2282198 | |
| 1 3385164 581296 C G . . ALLELEID=558487;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3385164C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3385184 509790 C T . . AF_EXAC=0.00025;ALLELEID=498442;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3385184C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201912658 | |
| 1 3385194 406240 A G . . AF_ESP=0.00008;AF_TGP=0.00040;ALLELEID=391170;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3385194A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374664141 | |
| 1 3385194 566207 A T . . ALLELEID=557303;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3385194A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3385201 391177 C T . . AF_EXAC=0.00024;ALLELEID=365226;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3385201C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201182055 | |
| 1 3385266 235271 A G . . AF_ESP=0.00024;AF_EXAC=0.00014;AF_TGP=0.00100;ALLELEID=236958;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374|MedGen:CN517202;CLNDN=Left_ventricular_noncompaction_8|not_specified|not_provided;CLNHGVS=NC_000001.11:g.3385266A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376567517 | |
| 1 3385295 413864 G A . . AF_ESP=0.00016;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=391176;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3385295G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=376759712 | |
| 1 3385303 510034 A G . . AF_ESP=0.00135;AF_EXAC=0.00030;AF_TGP=0.00040;ALLELEID=498622;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3385303A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370287328 | |
| 1 3396467 422807 TTCTC T . . ALLELEID=405161;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3396471_3396474delCTCT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=565661633 | |
| 1 3396532 511025 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=498447;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3396532G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370059347 | |
| 1 3396542 541376 C T . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=515921;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3396542C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=533353039 | |
| 1 3396544 227042 C T . . AF_ESP=0.01894;AF_EXAC=0.00919;AF_TGP=0.01817;ALLELEID=228418;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3396544C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=12058363 | |
| 1 3396557 580976 G A . . ALLELEID=557035;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3396557G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3396574 227872 A C . . AF_EXAC=0.00006;ALLELEID=228419;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3396574A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777464880 | |
| 1 3396575 569476 G T . . ALLELEID=558489;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3396575G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3396583 226442 C T . . ALLELEID=228241;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3396583C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876657565 | |
| 1 3396610 511347 A G . . ALLELEID=498591;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3396610A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553173395 | |
| 1 3402775 381208 G A . . AF_EXAC=0.05247;AF_TGP=0.02137;ALLELEID=365019;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402775G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192554855 | |
| 1 3402820 487582 G A . . AF_EXAC=0.00033;AF_TGP=0.00040;ALLELEID=480675;CLNDISDB=MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002;CLNDN=Wolff-Parkinson-White_pattern;CLNHGVS=NC_000001.11:g.3402820G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=4;RS=185041492 | |
| 1 3402828 227874 C A . . AF_ESP=0.00039;AF_EXAC=0.00008;ALLELEID=228420;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402828C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371540074 | |
| 1 3402891 510518 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=498401;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402891G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=557978089 | |
| 1 3402892 579622 C G . . ALLELEID=557037;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402892C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3402897 227043 C T . . AF_ESP=0.00837;AF_EXAC=0.01428;AF_TGP=0.01158;ALLELEID=228422;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3402897C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61756439 | |
| 1 3402907 541382 G T . . ALLELEID=515922;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402907G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174330 | |
| 1 3402915 509360 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=498624;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402915G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369972213 | |
| 1 3402925 541387 G A . . AF_EXAC=0.00004;ALLELEID=515854;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402925G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200052869 | |
| 1 3402936 227875 C T . . AF_ESP=0.00016;AF_EXAC=0.00005;ALLELEID=228423;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402936C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372730781 | |
| 1 3402939 377306 TG T . . ALLELEID=364184;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3402940delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057520188 | |
| 1 3402957 541392 C T . . ALLELEID=515825;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402957C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201199516 | |
| 1 3402958 580220 G A . . ALLELEID=557039;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402958G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3402977 583112 G A . . ALLELEID=557256;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3402977G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3402981 229169 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=228425;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402981G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375991356 | |
| 1 3402986 60728 C T . . AF_EXAC=0.00003;ALLELEID=75288;CLNDISDB=MedGen:C3809289;CLNDN=Dilated_cardiomyopathy_1LL;CLNHGVS=NC_000001.11:g.3402986C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605557.0005|UniProtKB_(protein):Q9HAZ2#VAR_070213;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514744 | |
| 1 3402990 507065 C T . . ALLELEID=498449;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3402990C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553174363 | |
| 1 3403005 514875 C T . . AF_ESP=0.00008;ALLELEID=498402;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3403005C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373228175 | |
| 1 3403006 406244 GCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTA G . . AF_EXAC=0.00673;ALLELEID=391319;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3403037_3403067del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=765185537 | |
| 1 3403007 510911 C A . . AF_EXAC=0.00018;AF_TGP=0.00080;ALLELEID=498453;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3403007C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372395047 | |
| 1 3404734 391408 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=365024;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3404734C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374596243 | |
| 1 3404735 413870 G A . . AF_ESP=0.00031;AF_TGP=0.00040;ALLELEID=391323;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3404735G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374365034 | |
| 1 3404758 541377 A G . . ALLELEID=515861;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3404758A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174650 | |
| 1 3404766 509593 G A . . AF_ESP=0.00008;ALLELEID=498456;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3404766G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371323418 | |
| 1 3404773 541388 C T . . AF_EXAC=0.00003;ALLELEID=515863;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3404773C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774291082 | |
| 1 3404790 474440 C T . . AF_EXAC=0.00008;ALLELEID=448121;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3404790C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752864531 | |
| 1 3404900 514199 C T . . ALLELEID=498628;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3404900C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1420211007 | |
| 1 3405478 510908 G T . . AF_ESP=0.00062;AF_EXAC=0.00011;AF_TGP=0.00100;ALLELEID=498596;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3405478G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374947232 | |
| 1 3405481 512205 A G . . AF_EXAC=0.00004;ALLELEID=498638;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3405481A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=778504357 | |
| 1 3405485 413861 G A . . AF_ESP=0.00031;AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=391327;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3405485G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370090853 | |
| 1 3405487 413872 C T . . ALLELEID=391224;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3405487C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1049463147 | |
| 1 3405533 221025 C T . . AF_ESP=0.00954;AF_EXAC=0.00322;AF_TGP=0.00899;ALLELEID=221095;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3405533C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2483221 | |
| 1 3405536 512437 G A . . ALLELEID=498406;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3405536G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767835445 | |
| 1 3405543 229155 G A . . ALLELEID=228426;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3405543G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657957 | |
| 1 3405555 229156 G T . . AF_ESP=0.00039;AF_EXAC=0.00017;ALLELEID=228427;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3405555G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200562747 | |
| 1 3405575 227022 C T . . AF_ESP=0.02843;AF_EXAC=0.00811;AF_TGP=0.02776;ALLELEID=228429;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3405575C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61745281 | |
| 1 3405578 227858 G A . . AF_EXAC=0.00002;ALLELEID=228428;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3405578G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757093442 | |
| 1 3405596 227859 C G . . AF_ESP=0.00054;AF_EXAC=0.00066;ALLELEID=228430;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3405596C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200169663 | |
| 1 3411374 229157 G C . . AF_ESP=0.00023;AF_EXAC=0.00016;ALLELEID=228431;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411374G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201517837 | |
| 1 3411376 541398 T C . . ALLELEID=515933;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411376T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1183088688 | |
| 1 3411385 474402 T C . . AF_ESP=0.00179;AF_EXAC=0.00043;AF_TGP=0.00180;ALLELEID=448124;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411385T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201309284 | |
| 1 3411409 227023 G A . . AF_ESP=0.00433;AF_EXAC=0.00382;AF_TGP=0.00280;ALLELEID=228432;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411409G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139129844 | |
| 1 3411522 373356 G A . . AF_EXAC=0.00002;ALLELEID=359261;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411522G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760272889 | |
| 1 3411525 432618 G A . . ALLELEID=425364;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411525G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1313622926 | |
| 1 3411553 507187 G A . . AF_TGP=0.00020;ALLELEID=498603;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411553G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=567761188 | |
| 1 3411560 227860 G A . . AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=228433;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411560G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=536908705 | |
| 1 3411567 451963 T C . . ALLELEID=442825;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411567T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1170937669 | |
| 1 3411590 406236 C G . . ALLELEID=391328;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411590C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763015619 | |
| 1 3411623 227024 C T . . AF_ESP=0.00145;AF_EXAC=0.00042;AF_TGP=0.00160;ALLELEID=228435;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411623C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=188908415 | |
| 1 3411637 474403 C T . . AF_EXAC=0.00003;ALLELEID=447823;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411637C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777323102 | |
| 1 3411655 426516 CG C . . ALLELEID=414793;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3411656delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1085307663 | |
| 1 3411678 474404 A C . . AF_EXAC=0.00003;ALLELEID=447997;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411678A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754016475 | |
| 1 3411679 474405 C G . . ALLELEID=447999;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411679C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755193238 | |
| 1 3411682 406234 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=391330;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411682G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370666366 | |
| 1 3411692 474406 C T . . ALLELEID=448125;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411692C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553176454 | |
| 1 3411714 504755 C T . . AF_ESP=0.00008;AF_EXAC=0.00008;ALLELEID=496200;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411714C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368543415 | |
| 1 3411715 227025 G A . . AF_ESP=0.00447;AF_EXAC=0.00144;AF_TGP=0.00439;ALLELEID=228434;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411715G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368589754 | |
| 1 3411733 508989 C T . . AF_ESP=0.00017;AF_EXAC=0.00003;ALLELEID=498605;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411733C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368073318 | |
| 1 3411734 241421 G A . . AF_EXAC=0.00013;ALLELEID=238269;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411734G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200278862 | |
| 1 3411742 413859 G A . . AF_ESP=0.00025;AF_EXAC=0.00011;ALLELEID=391189;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411742G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34992735 | |
| 1 3411763 474407 G T . . AF_EXAC=0.00140;AF_TGP=0.00080;ALLELEID=447830;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411763G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=554705536 | |
| 1 3411765 280120 A AC . . ALLELEID=264033;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3411770dupC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PRDM16:63976;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886041395 | |
| 1 3411771 229158 G A . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=228436;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411771G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373011563 | |
| 1 3411775 227861 G A . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=228437;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411775G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376747653 | |
| 1 3411794 227026 T C . . AF_ESP=0.87774;AF_TGP=0.94509;ALLELEID=228438;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411794T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9HAZ2#VAR_031433;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=870124 | |
| 1 3411796 413858 G A . . AF_ESP=0.00066;AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=391333;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411796G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373205864 | |
| 1 3411829 241422 C T . . AF_ESP=0.00041;AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=238270;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411829C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199499877 | |
| 1 3411839 487633 C A . . ALLELEID=480676;CLNDISDB=MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002;CLNDN=Wolff-Parkinson-White_pattern;CLNHGVS=NC_000001.11:g.3411839C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=4;RS=866090726 | |
| 1 3411848 474408 C T . . AF_EXAC=0.00001;ALLELEID=447834;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411848C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757695488 | |
| 1 3411865 474409 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=448135;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411865G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372910329 | |
| 1 3411871 515457 G A . . AF_EXAC=0.00001;ALLELEID=498639;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411871G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748822939 | |
| 1 3411881 227862 G A . . AF_ESP=0.00130;AF_EXAC=0.00064;AF_TGP=0.00319;ALLELEID=228439;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411881G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150395260 | |
| 1 3411903 426420 C T . . AF_ESP=0.00032;AF_EXAC=0.00004;ALLELEID=414794;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411903C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200647136 | |
| 1 3411906 474410 C T . . AF_TGP=0.00180;ALLELEID=448002;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411906C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138655327 | |
| 1 3411916 241423 G A . . AF_ESP=0.00032;AF_EXAC=0.00017;ALLELEID=238271;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411916G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374254884 | |
| 1 3411923 430198 G A . . AF_ESP=0.00032;AF_EXAC=0.00015;ALLELEID=421241;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411923G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201517929 | |
| 1 3411934 474411 C T . . AF_EXAC=0.00002;ALLELEID=448137;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411934C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35579804 | |
| 1 3411942 474412 G A . . AF_EXAC=0.00013;ALLELEID=448142;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN517202;CLNDN=Left_ventricular_noncompaction_8|not_provided;CLNHGVS=NC_000001.11:g.3411942G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=529401311 | |
| 1 3411977 541378 A G . . AF_EXAC=0.00001;ALLELEID=515827;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411977A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371292826 | |
| 1 3411985 512724 C T . . AF_EXAC=0.00001;ALLELEID=498459;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3411985C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766972389 | |
| 1 3411986 574039 G A . . ALLELEID=557305;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3411986G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3411994 390967 G A . . AF_ESP=0.00023;AF_TGP=0.00060;ALLELEID=365233;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3411994G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201769516 | |
| 1 3412012 507188 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=498465;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412012G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=566856228 | |
| 1 3412016 474413 GTCAA TTCAT . . ALLELEID=448008;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412016_3412020delGTCAAinsTTCAT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PRDM16:63976;ORIGIN=1;RS=1553176630 | |
| 1 3412036 509257 C T . . AF_EXAC=0.00008;ALLELEID=496201;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412036C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=549179676 | |
| 1 3412047 432644 C T . . AF_EXAC=0.00001;ALLELEID=425365;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412047C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767242607 | |
| 1 3412074 229159 A T . . ALLELEID=228441;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412074A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657958 | |
| 1 3412079 406247 G A . . AF_ESP=0.00039;AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=391230;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412079G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199895459 | |
| 1 3412090 511531 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=498414;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412090C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372411909 | |
| 1 3412095 227027 C T . . AF_ESP=0.15231;AF_EXAC=0.13103;AF_TGP=0.10603;ALLELEID=228440;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412095C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9HAZ2#VAR_031434;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2493292 | |
| 1 3412096 576741 TGACAAG T . . ALLELEID=557258;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412104_3412109del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1 | |
| 1 3412127 392339 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=365026;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412127G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61756438 | |
| 1 3412148 541381 G A . . AF_EXAC=0.00002;ALLELEID=515948;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412148G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770305450 | |
| 1 3412150 511312 C A . . ALLELEID=498620;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412150C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780589589 | |
| 1 3412158 452614 C T . . AF_EXAC=0.00004;ALLELEID=442826;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412158C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771684634 | |
| 1 3412159 413863 G A . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=391179;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412159G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376206605 | |
| 1 3412162 391905 C A . . ALLELEID=365030;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412162C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057524280 | |
| 1 3412169 406241 G C . . ALLELEID=391192;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412169G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760438677 | |
| 1 3412174 227863 G A . . AF_EXAC=0.00002;ALLELEID=228442;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412174G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759550479 | |
| 1 3412181 474415 G A . . ALLELEID=448146;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412181G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1016599754 | |
| 1 3412184 524100 GC G . . ALLELEID=514428;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3412186del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553176765 | |
| 1 3412192 541395 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=515830;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412192G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370328226 | |
| 1 3412234 413865 C T . . AF_EXAC=0.00001;ALLELEID=391334;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412234C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770781991 | |
| 1 3412255 515255 G A . . AF_ESP=0.00008;AF_EXAC=0.00016;ALLELEID=498642;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412255G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368426649 | |
| 1 3412257 229160 G C . . ALLELEID=228443;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412257G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657959 | |
| 1 3412265 541384 G A . . ALLELEID=515868;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412265G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1408714731 | |
| 1 3412286 229161 G T . . ALLELEID=228444;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412286G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779334537 | |
| 1 3412288 227028 A T . . AF_ESP=0.00712;AF_EXAC=0.00190;AF_TGP=0.00579;ALLELEID=228445;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412288A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35184988 | |
| 1 3412297 220733 C T . . AF_EXAC=0.00004;AF_TGP=0.00040;ALLELEID=221096;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412297C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=565237990 | |
| 1 3412301 60724 A T . . ALLELEID=75284;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412301A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605557.0001;GENEINFO=PRDM16:63976;MC=SO:0001587|nonsense;ORIGIN=1;RS=397514742 | |
| 1 3412303 517461 G A . . AF_EXAC=0.00001;ALLELEID=496623;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412303G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776564044 | |
| 1 3412315 512276 C T . . AF_EXAC=0.00011;ALLELEID=498626;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412315C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543211916 | |
| 1 3412323 426184 T C . . AF_ESP=0.00040;AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=414795;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412323T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201807364 | |
| 1 3412327 241424 G A . . AF_ESP=0.00104;AF_EXAC=0.00035;AF_TGP=0.00100;ALLELEID=238272;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412327G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=193118666 | |
| 1 3412339 413867 G A . . AF_ESP=0.00032;AF_EXAC=0.00050;AF_TGP=0.00080;ALLELEID=391195;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412339G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200167919 | |
| 1 3412345 453110 G A . . ALLELEID=442827;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412345G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886908974 | |
| 1 3412351 517157 G A . . AF_EXAC=0.00003;ALLELEID=496163;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412351G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781041726 | |
| 1 3412369 391055 G A . . AF_EXAC=0.00005;ALLELEID=365033;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412369G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773130347 | |
| 1 3412384 474416 C G . . AF_ESP=0.00024;AF_EXAC=0.00042;AF_TGP=0.00020;ALLELEID=448154;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412384C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200109766 | |
| 1 3412412 451225 C G . . ALLELEID=442828;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412412C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553176925 | |
| 1 3412425 573594 GA TC . . ALLELEID=558491;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412425_3412426invGA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Inversion;CLNVCSO=SO:1000036;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3412444 474417 G A . . ALLELEID=448009;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412444G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553176942 | |
| 1 3412457 474418 G A . . AF_ESP=0.00016;AF_EXAC=0.00004;ALLELEID=448093;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412457G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369599647 | |
| 1 3412478 406239 G A . . AF_ESP=0.00049;AF_EXAC=0.00030;ALLELEID=391197;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412478G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200947814 | |
| 1 3412487 229162 G A . . AF_ESP=0.00162;AF_EXAC=0.00122;AF_TGP=0.00080;ALLELEID=228446;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412487G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149333409 | |
| 1 3412493 474419 G A . . AF_ESP=0.00122;AF_EXAC=0.00029;AF_TGP=0.00080;ALLELEID=448156;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412493G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199998420 | |
| 1 3412576 413873 G A . . AF_EXAC=0.00122;AF_TGP=0.00200;ALLELEID=391232;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412576G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368154998 | |
| 1 3412583 424068 G A . . AF_ESP=0.00017;AF_EXAC=0.00001;ALLELEID=405162;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3412583G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367879720 | |
| 1 3412588 508020 C A . . ALLELEID=498417;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412588C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370931714 | |
| 1 3412588 474420 C T . . AF_ESP=0.00026;AF_TGP=0.00080;ALLELEID=448011;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412588C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370931714 | |
| 1 3412591 541397 C T . . AF_ESP=0.00017;AF_EXAC=0.00008;ALLELEID=515864;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412591C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374283575 | |
| 1 3412603 390010 G A . . AF_ESP=0.00028;AF_EXAC=0.00064;AF_TGP=0.00040;ALLELEID=365036;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412603G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368750536 | |
| 1 3412631 229163 C T . . ALLELEID=228447;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412631C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657960 | |
| 1 3412640 406222 C T . . ALLELEID=391182;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412640C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060500997 | |
| 1 3412644 60726 A G . . AF_EXAC=0.00058;ALLELEID=75286;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412644A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605557.0003|UniProtKB_(protein):Q9HAZ2#VAR_070214;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514743 | |
| 1 3412645 388234 C T . . AF_ESP=0.00191;AF_EXAC=0.00560;AF_TGP=0.00040;ALLELEID=365129;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412645C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372189819 | |
| 1 3412646 241425 G A . . AF_ESP=0.00010;AF_EXAC=0.00023;AF_TGP=0.00060;ALLELEID=238273;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412646G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375308440 | |
| 1 3412649 241426 G A . . AF_ESP=0.00137;AF_EXAC=0.00441;AF_TGP=0.00120;ALLELEID=238274;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412649G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201904226 | |
| 1 3412664 406245 C T . . ALLELEID=391233;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412664C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=932569189 | |
| 1 3412665 510913 G A . . AF_TGP=0.00060;ALLELEID=498631;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412665G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371654192 | |
| 1 3412665 227865 G C . . AF_ESP=0.00159;AF_TGP=0.00080;ALLELEID=228448;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412665G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371654192 | |
| 1 3412699 227029 C T . . AF_ESP=0.03922;AF_EXAC=0.08409;AF_TGP=0.05371;ALLELEID=228449;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412699C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115226069 | |
| 1 3412702 510505 C T . . AF_EXAC=0.00018;ALLELEID=498469;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412702C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762623730 | |
| 1 3412703 227030 G A . . AF_ESP=0.00113;AF_EXAC=0.00144;AF_TGP=0.00220;ALLELEID=228450;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412703G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=114204766 | |
| 1 3412705 449703 C T . . AF_ESP=0.00019;AF_EXAC=0.00230;ALLELEID=442829;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412705C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374271999 | |
| 1 3412706 575552 G A . . ALLELEID=557041;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412706G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3412733 406238 C T . . AF_EXAC=0.00000;ALLELEID=391237;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412733C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752922142 | |
| 1 3412736 474421 A T . . AF_TGP=0.00300;ALLELEID=448012;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412736A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369624816 | |
| 1 3412753 512206 G A . . AF_EXAC=0.00050;AF_TGP=0.00020;ALLELEID=498646;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412753G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=570631594 | |
| 1 3412762 474422 C T . . AF_EXAC=0.00000;ALLELEID=447838;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412762C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769253322 | |
| 1 3412773 229164 C T . . AF_ESP=0.00043;AF_EXAC=0.00032;ALLELEID=228451;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3412773C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370046582 | |
| 1 3412806 541394 C T . . AF_ESP=0.00034;AF_EXAC=0.00044;ALLELEID=515873;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3412806C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374549827 | |
| 1 3412820 381194 C T . . AF_ESP=0.13828;AF_EXAC=0.21551;AF_TGP=0.10703;ALLELEID=365234;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3412820C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2493291 | |
| 1 3414590 227866 C T . . AF_ESP=0.00090;AF_EXAC=0.00060;AF_TGP=0.00020;ALLELEID=228452;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3414590C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201338158 | |
| 1 3414591 432243 G A . . AF_EXAC=0.00018;ALLELEID=425366;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3414591G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746861136 | |
| 1 3414602 413866 G A . . ALLELEID=391194;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3414602G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504134 | |
| 1 3414616 60729 T C . . ALLELEID=75289;CLNDISDB=MedGen:C3809289;CLNDN=Dilated_cardiomyopathy_1LL;CLNHGVS=NC_000001.11:g.3414616T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605557.0006|UniProtKB_(protein):Q9HAZ2#VAR_070215;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202115331 | |
| 1 3414622 487607 C T . . AF_ESP=0.00049;AF_EXAC=0.00024;AF_TGP=0.00040;ALLELEID=480677;CLNDISDB=MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MedGen:C3809288,OMIM:615373;CLNDN=Wolff-Parkinson-White_pattern|Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3414622C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=33;RS=201814961 | |
| 1 3414629 227031 G A . . AF_ESP=0.00057;AF_EXAC=0.01362;AF_TGP=0.01797;ALLELEID=228453;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3414629G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3819970 | |
| 1 3414652 390179 G A . . AF_ESP=0.00008;AF_EXAC=0.00022;ALLELEID=365238;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3414652G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375994227 | |
| 1 3414659 509004 G T . . AF_ESP=0.00064;AF_EXAC=0.00051;ALLELEID=498634;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3414659G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201371121 | |
| 1 3417818 390108 A G . . AF_EXAC=0.00041;ALLELEID=365235;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3417818A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=754274180 | |
| 1 3417877 241427 T C . . AF_ESP=0.00080;AF_EXAC=0.00009;AF_TGP=0.00040;ALLELEID=238275;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3417877T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201304831 | |
| 1 3417883 218791 C T . . AF_EXAC=0.00008;ALLELEID=215209;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417883C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=0;RS=756209340 | |
| 1 3417916 373755 A C . . AF_EXAC=0.00004;ALLELEID=359242;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417916A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763577669 | |
| 1 3417922 229165 C A . . AF_ESP=0.00033;AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=228454;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3417922C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145632008 | |
| 1 3417929 227032 C T . . AF_ESP=0.01465;AF_EXAC=0.00423;AF_TGP=0.01478;ALLELEID=228455;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3417929C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=59135929 | |
| 1 3417933 541391 C T . . AF_ESP=0.00008;AF_EXAC=0.00008;ALLELEID=515834;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417933C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371460126 | |
| 1 3417934 576146 G A . . ALLELEID=557307;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417934G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3417941 229166 A ACC . . ALLELEID=228456;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417945_3417946dupCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PRDM16:63976;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876657961 | |
| 1 3417945 573517 C A . . ALLELEID=558493;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417945C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3417945 406243 C G . . ALLELEID=391199;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417945C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374972823 | |
| 1 3417949 406242 C T . . AF_TGP=0.00020;ALLELEID=391196;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417949C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=541102613 | |
| 1 3417950 506795 G A . . AF_EXAC=0.00016;AF_TGP=0.00080;ALLELEID=498471;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417950G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140540302 | |
| 1 3417951 474423 C A . . AF_ESP=0.00008;ALLELEID=448096;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417951C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150022595 | |
| 1 3417951 373801 C G . . AF_TGP=0.00100;ALLELEID=359349;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3417951C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150022595 | |
| 1 3417956 509306 C T . . AF_EXAC=0.00004;ALLELEID=498645;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417956C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764764989 | |
| 1 3417991 541389 C A . . ALLELEID=515950;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3417991C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749180764 | |
| 1 3417991 487592 C T . . ALLELEID=480678;CLNDISDB=MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002;CLNDN=Wolff-Parkinson-White_pattern;CLNHGVS=NC_000001.11:g.3417991C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=0;RS=749180764 | |
| 1 3417992 227867 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=228457;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3417992G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=563342786 | |
| 1 3425563 392369 C T . . AF_ESP=0.00171;AF_EXAC=0.00045;AF_TGP=0.00080;ALLELEID=365132;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425563C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=377695146 | |
| 1 3425564 386315 G A . . AF_ESP=0.01548;AF_EXAC=0.01258;AF_TGP=0.00539;ALLELEID=365137;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425564G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41301967 | |
| 1 3425565 518045 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=498420;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425565C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374845861 | |
| 1 3425566 229167 G A . . AF_EXAC=0.00022;AF_TGP=0.00080;ALLELEID=228458;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425566G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=538723120 | |
| 1 3425593 474424 C T . . AF_ESP=0.00016;AF_EXAC=0.00032;ALLELEID=448159;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3425593C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200234106 | |
| 1 3425594 373270 G A . . AF_EXAC=0.00007;ALLELEID=359356;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3425594G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=758565663 | |
| 1 3425743 241428 C T . . AF_ESP=0.00151;AF_EXAC=0.00204;AF_TGP=0.00160;ALLELEID=238276;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3425743C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199853370 | |
| 1 3425747 451472 C T . . AF_ESP=0.00008;ALLELEID=442830;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425747C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375442968 | |
| 1 3425759 504757 C T . . AF_ESP=0.00016;AF_EXAC=0.00008;ALLELEID=496202;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3425759C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369808146 | |
| 1 3425760 227033 G A . . AF_ESP=0.00812;AF_EXAC=0.00269;AF_TGP=0.00998;ALLELEID=228459;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3425760G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7549401 | |
| 1 3425762 506372 G A . . ALLELEID=498652;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425762G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200643126 | |
| 1 3425762 227868 G C . . AF_ESP=0.00137;ALLELEID=228460;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3425762G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200643126 | |
| 1 3426038 507577 C T . . AF_ESP=0.00066;AF_EXAC=0.00028;AF_TGP=0.00160;ALLELEID=498647;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426038C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150372316 | |
| 1 3426044 541390 T C . . ALLELEID=515875;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426044T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553179293 | |
| 1 3426047 227869 G A . . AF_ESP=0.00058;AF_TGP=0.00020;ALLELEID=228461;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426047G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201495178 | |
| 1 3426065 426514 G A . . AF_EXAC=0.00009;ALLELEID=414796;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426065G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768620911 | |
| 1 3426070 241429 C T . . AF_EXAC=0.00003;ALLELEID=238277;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426070C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199507891 | |
| 1 3426071 227034 C T . . AF_ESP=0.00337;AF_EXAC=0.00115;AF_TGP=0.00479;ALLELEID=228462;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426071C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=187400273 | |
| 1 3426076 227870 G A . . AF_EXAC=0.00003;ALLELEID=228463;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426076G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761078027 | |
| 1 3426080 423292 C A . . AF_EXAC=0.00002;ALLELEID=405163;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426080C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766964168 | |
| 1 3426082 474425 C T . . ALLELEID=448016;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426082C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754311746 | |
| 1 3426085 541396 G T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=515865;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426085G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=193241720 | |
| 1 3426095 507781 G A . . AF_ESP=0.00041;AF_EXAC=0.00017;AF_TGP=0.00100;ALLELEID=498653;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426095G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113879347 | |
| 1 3426118 474426 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=447839;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426118G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=576168703 | |
| 1 3426140 541380 G A . . AF_EXAC=0.00009;ALLELEID=515866;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426140G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200946004 | |
| 1 3426210 241430 C T . . AF_EXAC=0.00001;ALLELEID=238278;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426210C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760088040 | |
| 1 3426211 413871 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=391340;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3426211G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375314464 | |
| 1 3426221 503929 AAACGGT A . . ALLELEID=495094;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426224_3426229delCGGTAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1;RS=1553179398 | |
| 1 3426222 541383 A G . . ALLELEID=515867;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3426222A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=947863770 | |
| 1 3426224 451058 C T . . AF_ESP=0.00016;AF_EXAC=0.00018;ALLELEID=442831;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426224C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201439415 | |
| 1 3426239 515150 C T . . AF_EXAC=0.00003;ALLELEID=498655;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426239C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201774450 | |
| 1 3426240 227035 G T . . AF_ESP=0.31514;AF_TGP=0.37939;ALLELEID=228464;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3426240G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=870171 | |
| 1 3430873 541375 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=515836;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430873G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374562445 | |
| 1 3430880 546299 T C . . ALLELEID=536588;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3430880T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1319675512 | |
| 1 3430888 60727 G A . . AF_EXAC=0.00357;AF_TGP=0.00300;ALLELEID=75287;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:C3809289|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|Dilated_cardiomyopathy_1LL|not_specified;CLNHGVS=NC_000001.11:g.3430888G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605557.0004|UniProtKB_(protein):Q9HAZ2#VAR_070216;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201654872 | |
| 1 3430939 546487 G A . . AF_TGP=0.00020;ALLELEID=536589;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN517202;CLNDN=Left_ventricular_noncompaction_8|not_provided;CLNHGVS=NC_000001.11:g.3430939G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=542279737 | |
| 1 3430940 541379 TGGA T . . ALLELEID=515838;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430950_3430952del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1;RS=779426991 | |
| 1 3430944 565392 G C . . ALLELEID=557043;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430944G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3430950 413868 G GGAC . . AF_ESP=0.00040;AF_EXAC=0.00048;ALLELEID=391341;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3430956_3430958dupCGA;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PRDM16:63976;ORIGIN=1;RS=758774731 | |
| 1 3430953 567513 C G . . ALLELEID=557260;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430953C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3430953 227871 C T . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=228465;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3430953C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370195954 | |
| 1 3430953 474428 CGACGATGACCTGGAGGAG C . . ALLELEID=447846;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430962_3430979del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1;RS=1553180122 | |
| 1 3430956 227036 C T . . AF_ESP=0.00579;AF_EXAC=0.00179;AF_TGP=0.00579;ALLELEID=228466;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3430956C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370420046 | |
| 1 3430972 541385 G T . . AF_EXAC=0.00004;ALLELEID=515952;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430972G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776279865 | |
| 1 3430992 510274 C T . . AF_EXAC=0.00008;ALLELEID=498478;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3430992C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765114438 | |
| 1 3430993 474429 G A . . AF_EXAC=0.00019;ALLELEID=447851;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3430993G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775245244 | |
| 1 3431011 474430 A G . . ALLELEID=447857;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3431011A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553180139 | |
| 1 3431029 406233 G A . . AF_EXAC=0.00003;ALLELEID=391240;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3431029G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746465588 | |
| 1 3431031 413862 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=391206;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3431031G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370445519 | |
| 1 3431041 406235 G A . . AF_EXAC=0.00004;ALLELEID=391207;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3431041G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776229208 | |
| 1 3431074 474431 G A . . AF_EXAC=0.00005;ALLELEID=448160;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3431074G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747460948 | |
| 1 3431085 474432 C T . . AF_ESP=0.00024;AF_EXAC=0.00010;AF_TGP=0.00060;ALLELEID=448019;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3431085C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368383914 | |
| 1 3431086 452234 G A . . ALLELEID=442832;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3431086G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1229345087 | |
| 1 3432014 541399 G A . . AF_EXAC=0.00118;AF_TGP=0.00060;ALLELEID=515876;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3432014G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=541512137 | |
| 1 3432039 474434 C T . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=448162;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3432039C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376762015 | |
| 1 3432065 241431 A T . . AF_ESP=0.00163;AF_EXAC=0.00099;AF_TGP=0.00020;ALLELEID=238279;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3432065A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199972068 | |
| 1 3432069 581420 AAAG A . . ALLELEID=557309;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3432071_3432073del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PRDM16:63976;ORIGIN=1 | |
| 1 3432119 474435 G C . . AF_ESP=0.00049;AF_EXAC=0.00020;ALLELEID=447863;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3432119G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201038279 | |
| 1 3432131 227037 T C . . AF_ESP=0.00181;AF_EXAC=0.00050;AF_TGP=0.00240;ALLELEID=228467;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNHGVS=NC_000001.11:g.3432131T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=188634763 | |
| 1 3432150 511043 C T . . AF_ESP=0.00017;AF_EXAC=0.00005;ALLELEID=498422;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3432150C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369030039 | |
| 1 3432151 390334 G A . . AF_EXAC=0.00008;ALLELEID=365138;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3432151G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant;ORIGIN=1;RS=775474986 | |
| 1 3433709 474436 C T . . ALLELEID=447867;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3433709C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1198367549 | |
| 1 3433728 541386 T A . . ALLELEID=515958;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3433728T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1553180663 | |
| 1 3433730 413860 C T . . ALLELEID=391209;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNDN=Left_ventricular_noncompaction_8;CLNHGVS=NC_000001.11:g.3433730C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=546815156 | |
| 1 3433801 505160 A G . . ALLELEID=496203;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3433801A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553180695 | |
| 1 3433813 389898 G A . . AF_EXAC=0.00007;ALLELEID=365038;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3433813G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;ORIGIN=1;RS=368799129 | |
| 1 3433825 505570 C T . . AF_EXAC=0.00001;ALLELEID=496164;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.3433825C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PRDM16:63976;ORIGIN=1;RS=747277382 | |
| 1 3815443 569168 C T . . ALLELEID=557311;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3815443C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 3816298 475462 C A . . AF_ESP=0.00031;AF_EXAC=0.00031;AF_TGP=0.00060;ALLELEID=447876;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3816298C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=185664269 | |
| 1 3816372 221277 T C . . ALLELEID=222988;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3816372T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616690.0004;GENEINFO=CEP104:9731;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=869025278 | |
| 1 3823176 475461 C T . . AF_ESP=0.00800;AF_EXAC=0.00248;AF_TGP=0.00879;ALLELEID=448097;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3823176C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111626991 | |
| 1 3829920 475460 T C . . AF_ESP=0.00023;AF_EXAC=0.00923;AF_TGP=0.02276;ALLELEID=448030;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3829920T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2275829 | |
| 1 3829950 542194 C A . . AF_ESP=0.00569;AF_TGP=0.00319;ALLELEID=515886;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3829950C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=12144567 | |
| 1 3835024 475458 T C . . AF_ESP=0.00700;AF_EXAC=0.00207;AF_TGP=0.00479;ALLELEID=448039;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3835024T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76234817 | |
| 1 3835047 475457 G A . . AF_ESP=0.00700;AF_EXAC=0.00205;AF_TGP=0.00479;ALLELEID=447878;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3835047G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115015364 | |
| 1 3835081 221275 G GA . . ALLELEID=222986;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3835081_3835082insA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=OMIM_Allelic_Variant:616690.0002;GENEINFO=CEP104:9731;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869025277 | |
| 1 3836504 475456 T A . . AF_ESP=0.00369;AF_EXAC=0.00252;AF_TGP=0.00160;ALLELEID=447880;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3836504T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148455387 | |
| 1 3837319 542193 AGGGAGTAACG A . . ALLELEID=515891;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3837320_3837329del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CEP104:9731;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=776094913 | |
| 1 3839003 591066 G T . . ALLELEID=582060;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3839003G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001587|nonsense;ORIGIN=1 | |
| 1 3839074 542196 C T . . AF_EXAC=0.00021;ALLELEID=515969;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3839074C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768279838 | |
| 1 3839096 542192 A C . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=515879;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3839096A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001587|nonsense;ORIGIN=1;RS=372048855 | |
| 1 3839606 221274 A G . . ALLELEID=222985;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3839606A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616690.0001;GENEINFO=CEP104:9731;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=869025276 | |
| 1 3839662 475464 C T . . AF_ESP=0.00100;AF_EXAC=0.01386;AF_TGP=0.01737;ALLELEID=447882;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3839662C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61746709 | |
| 1 3839679 542195 G A . . AF_ESP=0.00062;AF_EXAC=0.00021;AF_TGP=0.00060;ALLELEID=515850;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3839679G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142899837 | |
| 1 3844921 475463 T A . . AF_ESP=0.00700;AF_EXAC=0.00199;AF_TGP=0.00479;ALLELEID=448168;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3844921T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61745578 | |
| 1 3844977 221276 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=222987;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3844977G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:616690.0003;GENEINFO=CEP104:9731;MC=SO:0001587|nonsense;ORIGIN=1;RS=374574638 | |
| 1 3847559 493016 T G . . AF_EXAC=0.00004;ALLELEID=485979;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.3847559T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779086283 | |
| 1 3848718 475459 C T . . AF_ESP=0.00700;AF_EXAC=0.00199;AF_TGP=0.00479;ALLELEID=448105;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3848718C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CEP104:9731;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=79859848 | |
| 1 3852358 434718 TC T . . ALLELEID=427813;CLNDISDB=MedGen:C4084842,OMIM:616781;CLNDN=Joubert_syndrome_25;CLNHGVS=NC_000001.11:g.3852359delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CEP104:9731;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1334483830 | |
| 1 5862951 297781 A C . . AF_TGP=0.01977;ALLELEID=283011;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5862951A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:553267;GENEINFO=NPHP4:261734;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=111874674 | |
| 1 5863137 297782 T G . . AF_TGP=0.01158;ALLELEID=281526;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5863137T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:483961;GENEINFO=NPHP4:261734;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=116747881 | |
| 1 5863239 297783 G A . . ALLELEID=280972;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5863239G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:254640;GENEINFO=NPHP4:261734;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=533259623 | |
| 1 5863286 531638 G A . . AF_ESP=0.00016;AF_EXAC=0.00004;ALLELEID=516157;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5863286G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376464726 | |
| 1 5863307 595255 G C . . ALLELEID=586317;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863307G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5863309 297784 C T . . AF_ESP=0.00387;AF_EXAC=0.00100;AF_TGP=0.00539;ALLELEID=282746;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5863309C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764956;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115910810 | |
| 1 5863313 597200 A G . . ALLELEID=588261;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863313A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5863325 597701 G A . . ALLELEID=588762;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863325G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5863326 595291 T C . . ALLELEID=586353;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863326T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5863335 498745 A G . . ALLELEID=490169;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863335A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553151351 | |
| 1 5863364 596153 C T . . ALLELEID=587214;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863364C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5863367 95686 A T . . AF_ESP=0.00183;AF_TGP=0.00060;ALLELEID=101583;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5863367A>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35641267 | |
| 1 5863401 196631 C T . . AF_EXAC=0.00005;ALLELEID=193792;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863401C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773368924 | |
| 1 5863403 288025 G A . . AF_EXAC=0.00002;ALLELEID=272262;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863403G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766613810 | |
| 1 5863416 260560 G A . . AF_ESP=0.00088;AF_EXAC=0.00054;AF_TGP=0.00040;ALLELEID=249993;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5863416G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:615186;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139203183 | |
| 1 5863912 499386 C T . . ALLELEID=490810;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863912C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768550124 | |
| 1 5863916 215887 G A . . AF_ESP=0.00049;AF_EXAC=0.00032;AF_TGP=0.00060;ALLELEID=212105;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5863916G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:584663;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374146357 | |
| 1 5863923 597031 C T . . ALLELEID=588092;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863923C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5863924 500165 G A . . AF_EXAC=0.00003;ALLELEID=491589;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863924G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746256511 | |
| 1 5863931 595271 C T . . ALLELEID=586333;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863931C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5863955 190975 G A . . AF_ESP=0.00008;AF_EXAC=0.00018;AF_TGP=0.00020;ALLELEID=188781;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5863955G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:588386;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369162678 | |
| 1 5863979 596050 T G . . ALLELEID=587111;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5863979T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5863996 291157 C T . . AF_ESP=0.00040;AF_EXAC=0.00028;AF_TGP=0.00020;ALLELEID=275394;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5863996C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:727650;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200407553 | |
| 1 5864024 594982 T C . . ALLELEID=586044;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864024T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5864350 215886 C T . . AF_EXAC=0.00006;ALLELEID=212106;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5864350C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763002637 | |
| 1 5864351 499260 G A . . AF_ESP=0.00032;AF_TGP=0.00080;ALLELEID=490684;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864351G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199583130 | |
| 1 5864370 297785 A C . . AF_EXAC=0.00001;ALLELEID=282749;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5864370A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:760383;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748449029 | |
| 1 5864373 597518 C T . . ALLELEID=588579;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864373C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5864374 282577 G A . . ALLELEID=266814;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5864374G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:714894;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778306754 | |
| 1 5864391 502038 G C . . AF_EXAC=0.00001;ALLELEID=493462;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864391G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776086986 | |
| 1 5864394 562365 GGTGGCAATCC G . . ALLELEID=553549;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864395_5864404del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 5864407 196137 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=193298;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864407G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=377183096 | |
| 1 5864423 196138 T C . . AF_ESP=0.00048;AF_EXAC=0.00041;AF_TGP=0.00180;ALLELEID=193299;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5864423T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115488133 | |
| 1 5864435 594003 C T . . ALLELEID=585066;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864435C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5864440 462719 G A . . AF_ESP=0.00534;AF_EXAC=0.00161;AF_TGP=0.00439;ALLELEID=448255;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5864440G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=60094861 | |
| 1 5864458 95685 G A . . AF_ESP=0.01126;AF_EXAC=0.01256;AF_TGP=0.00439;ALLELEID=101582;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5864458G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(3)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:149745;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115526767 | |
| 1 5864470 297786 G A . . ALLELEID=280973;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5864470G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:839919;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886046459 | |
| 1 5864475 462718 G C . . AF_ESP=0.00049;AF_EXAC=0.00017;ALLELEID=448260;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5864475G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201779243 | |
| 1 5864481 432503 C G . . ALLELEID=425380;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5864481C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=537859714 | |
| 1 5864483 286996 C T . . AF_ESP=0.00049;AF_EXAC=0.00037;AF_TGP=0.00080;ALLELEID=271233;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5864483C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61739637 | |
| 1 5864484 597140 G A . . ALLELEID=588201;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864484G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5864491 167370 C A . . AF_ESP=0.00033;AF_EXAC=0.00027;AF_TGP=0.00160;ALLELEID=177882;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864491C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9662691 | |
| 1 5864497 167371 G A . . AF_ESP=0.00033;AF_EXAC=0.00015;ALLELEID=177883;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5864497G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375237454 | |
| 1 5864502 593042 C T . . ALLELEID=584106;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5864502C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5865108 594317 C G . . ALLELEID=585380;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865108C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5865141 287096 C T . . AF_ESP=0.00040;AF_EXAC=0.00107;AF_TGP=0.00060;ALLELEID=271333;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5865141C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:294829;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369566680 | |
| 1 5865148 593289 G A . . ALLELEID=584353;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865148G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5865156 297787 C A . . AF_EXAC=0.00001;ALLELEID=281527;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5865156C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:770140;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762953303 | |
| 1 5865156 596507 C T . . ALLELEID=587568;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865156C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5865160 297788 C T . . AF_TGP=0.00040;ALLELEID=281535;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5865160C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:301196;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=560944258 | |
| 1 5865161 286539 G A . . AF_EXAC=0.00004;ALLELEID=270776;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865161G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762195159 | |
| 1 5865164 95684 G A . . AF_EXAC=0.00001;ALLELEID=101581;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865164G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398124290 | |
| 1 5865195 297789 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=283015;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5865195G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:784805;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375485412 | |
| 1 5865213 297790 G A . . AF_ESP=0.00008;AF_EXAC=0.00031;AF_TGP=0.00020;ALLELEID=281536;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5865213G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:795929;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199925943 | |
| 1 5865215 297791 G A . . AF_EXAC=0.00005;ALLELEID=282757;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5865215G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:438428;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774386141 | |
| 1 5865232 500573 T C . . AF_ESP=0.00008;ALLELEID=491997;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5865232T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374390513 | |
| 1 5865244 196032 G A . . AF_ESP=0.00447;AF_EXAC=0.00231;AF_TGP=0.00579;ALLELEID=193193;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5865244G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022546;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144624477 | |
| 1 5865288 297792 G A . . AF_EXAC=0.00066;AF_TGP=0.00080;ALLELEID=283017;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5865288G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:272793;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=558429618 | |
| 1 5865311 260559 G A . . AF_ESP=0.33790;AF_EXAC=0.44579;AF_TGP=0.31789;ALLELEID=249994;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5865311G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1287634 | |
| 1 5866405 297793 C T . . AF_ESP=0.00041;AF_EXAC=0.00028;AF_TGP=0.00020;ALLELEID=283018;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5866405C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:726981;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374003717 | |
| 1 5866406 500646 G A . . AF_EXAC=0.00005;ALLELEID=492070;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5866406G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199625626 | |
| 1 5866442 195976 C T . . AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=193137;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5866442C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539967736 | |
| 1 5866443 188389 G A . . AF_ESP=0.00190;AF_EXAC=0.00267;AF_TGP=0.00100;ALLELEID=185958;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5866443G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022545;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139022622 | |
| 1 5866447 95683 T C . . AF_ESP=0.34902;AF_EXAC=0.46043;AF_TGP=0.31969;ALLELEID=101580;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5866447T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:16;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=555164 | |
| 1 5866453 596312 G T . . ALLELEID=587373;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5866453G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5866476 260558 AG A . . ALLELEID=249995;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5866477delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201335783 | |
| 1 5867062 426852 C T . . ALLELEID=414804;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5867062C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=893677386 | |
| 1 5867063 499075 G A . . AF_EXAC=0.00002;ALLELEID=490499;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867063G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779230173 | |
| 1 5867070 297794 C T . . AF_ESP=0.00040;AF_EXAC=0.00020;AF_TGP=0.00040;ALLELEID=283019;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5867070C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:95930;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137932153 | |
| 1 5867108 498957 C T . . AF_ESP=0.00016;AF_EXAC=0.00005;ALLELEID=490381;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867108C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373955397 | |
| 1 5867109 220304 G A . . AF_ESP=0.01300;AF_EXAC=0.01383;AF_TGP=0.00579;ALLELEID=221109;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5867109G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:66966;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113445782 | |
| 1 5867131 260557 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=249996;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5867131T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=376664242 | |
| 1 5867734 260556 A G . . ALLELEID=249997;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5867734A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886038610 | |
| 1 5867758 195828 G A . . AF_EXAC=0.00099;AF_TGP=0.00180;ALLELEID=192989;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5867758G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=560329867 | |
| 1 5867760 502416 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=493840;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867760G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=549077156 | |
| 1 5867767 287251 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=271488;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867767G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201605415 | |
| 1 5867778 592997 T C . . ALLELEID=584061;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867778T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5867795 499211 C T . . AF_ESP=0.00016;ALLELEID=490635;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867795C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371527260 | |
| 1 5867808 502708 C T . . AF_EXAC=0.00001;ALLELEID=494131;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867808C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763251283 | |
| 1 5867809 499341 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=490765;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5867809G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374387338 | |
| 1 5867824 598703 C T . . ALLELEID=589764;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867824C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5867827 289977 C T . . AF_ESP=0.00016;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=274214;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5867827C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372934556 | |
| 1 5867834 596506 C T . . ALLELEID=587567;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867834C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5867848 501425 T G . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=492849;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867848T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375836844 | |
| 1 5867852 501521 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=492945;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867852G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=188869698 | |
| 1 5867864 498960 G A . . AF_EXAC=0.00001;ALLELEID=490384;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867864G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751938743 | |
| 1 5867867 593690 G A . . ALLELEID=584754;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5867867G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5867883 95682 G A . . AF_ESP=0.00476;AF_EXAC=0.00358;AF_TGP=0.00140;ALLELEID=101579;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5867883G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM125782|Illumina_Clinical_Services_Laboratory,Illumina:132311|UniProtKB_(protein):O75161#VAR_076790;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139767853 | |
| 1 5873220 260555 C T . . AF_ESP=0.00604;AF_EXAC=0.00199;AF_TGP=0.00899;ALLELEID=249998;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5873220C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115555125 | |
| 1 5873258 497252 G A . . AF_ESP=0.00024;AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=488676;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5873258G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200320780 | |
| 1 5873275 500975 C T . . AF_ESP=0.00071;AF_EXAC=0.00080;AF_TGP=0.00120;ALLELEID=492399;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5873275C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41280798 | |
| 1 5873294 3403 CA C . . ALLELEID=18442;CLNDISDB=MedGen:C1847013,OMIM:606966;CLNDN=Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5873295del;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:607215.0005;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 5873324 95681 C G . . AF_ESP=0.01963;AF_EXAC=0.01361;AF_TGP=0.00899;ALLELEID=101578;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5873324C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(3)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:124;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41280800 | |
| 1 5873326 594455 C G . . ALLELEID=585518;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5873326C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5873330 595181 A G . . ALLELEID=586243;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5873330A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5873333 597922 G C . . ALLELEID=588983;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5873333G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5874430 260554 A G . . AF_ESP=0.67292;AF_EXAC=0.65657;AF_TGP=0.56929;ALLELEID=249999;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874430A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=868163 | |
| 1 5874440 260553 T C . . AF_ESP=0.17498;AF_EXAC=0.31427;AF_TGP=0.27117;ALLELEID=250000;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874440T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=905467 | |
| 1 5874466 297795 C T . . ALLELEID=283022;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5874466C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:655341;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886046460 | |
| 1 5874475 597624 A G . . ALLELEID=588685;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874475A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874476 596108 C G . . ALLELEID=587169;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874476C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874521 167372 C T . . AF_ESP=0.00032;AF_EXAC=0.00041;AF_TGP=0.00120;ALLELEID=176932;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874521C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM077956;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143020939 | |
| 1 5874527 502319 C T . . AF_ESP=0.00008;AF_EXAC=0.00092;AF_TGP=0.00020;ALLELEID=493743;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874527C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202004152 | |
| 1 5874528 595216 G A . . ALLELEID=586278;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874528G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5874533 594536 C T . . ALLELEID=585599;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874533C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874534 288722 G A . . AF_ESP=0.00079;AF_EXAC=0.00137;AF_TGP=0.00020;ALLELEID=272959;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5874534G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376351293 | |
| 1 5874537 498706 G C . . ALLELEID=490130;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874537G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1166080060 | |
| 1 5874541 578586 C T . . ALLELEID=557328;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5874541C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874542 190976 G A . . AF_ESP=0.00008;ALLELEID=188782;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874542G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373369949 | |
| 1 5874552 288724 C T . . AF_EXAC=0.00002;ALLELEID=272961;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874552C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776468806 | |
| 1 5874558 240970 G A . . ALLELEID=238337;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5874558G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=540738356 | |
| 1 5874558 499126 G C . . AF_TGP=0.00060;ALLELEID=490550;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874558G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=540738356 | |
| 1 5874571 592639 C T . . ALLELEID=583704;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874571C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874579 413603 G A . . AF_EXAC=0.00002;ALLELEID=391347;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5874579G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779336075 | |
| 1 5874584 286777 T C . . AF_EXAC=0.00002;ALLELEID=271014;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874584T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777310738 | |
| 1 5874592 291100 T G . . AF_ESP=0.00031;AF_EXAC=0.00007;ALLELEID=275337;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5874592T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200310448 | |
| 1 5874619 591671 CC AG . . ALLELEID=582660;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874619_5874620delCCinsAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874621 596213 C A . . ALLELEID=587274;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874621C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874621 260552 C T . . AF_EXAC=0.00001;ALLELEID=250001;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874621C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745993624 | |
| 1 5874624 297796 G A . . ALLELEID=281550;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5874624G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:704689;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886046461 | |
| 1 5874629 297797 C G . . AF_EXAC=0.00001;ALLELEID=283024;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5874629C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:760385;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760874774 | |
| 1 5874643 593173 C G . . ALLELEID=584237;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874643C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874650 220869 C T . . AF_ESP=0.00039;AF_EXAC=0.00020;ALLELEID=221110;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5874650C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201433248 | |
| 1 5874656 297798 C T . . AF_ESP=0.00008;AF_EXAC=0.00020;AF_TGP=0.00060;ALLELEID=281551;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5874656C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636411;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200702924 | |
| 1 5874661 297799 G T . . ALLELEID=280976;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5874661G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636413;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886046462 | |
| 1 5874662 593682 G A . . ALLELEID=584746;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874662G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5874881 595973 C T . . ALLELEID=587034;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874881C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5874882 195613 G A . . AF_ESP=0.00272;AF_TGP=0.00260;ALLELEID=192774;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5874882G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34265978 | |
| 1 5874890 195609 C T . . AF_ESP=0.00024;AF_EXAC=0.00022;ALLELEID=192770;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874890C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200166175 | |
| 1 5874891 297800 G A . . AF_EXAC=0.00003;ALLELEID=280977;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5874891G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:553269;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762202268 | |
| 1 5874906 291268 C T . . AF_ESP=0.00016;AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=275505;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874906C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=185162256 | |
| 1 5874907 499590 G A . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=491014;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874907G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=528511138 | |
| 1 5874929 502784 T C . . ALLELEID=494207;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874929T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553157133 | |
| 1 5874946 3402 A G . . ALLELEID=18441;CLNDISDB=MedGen:C1847013,OMIM:606966;CLNDN=Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5874946A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0004|UniProtKB_(protein):O75161#VAR_015186;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28940891 | |
| 1 5874953 195608 C T . . AF_ESP=0.00078;AF_EXAC=0.00042;AF_TGP=0.00040;ALLELEID=192769;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified|not_provided;CLNHGVS=NC_000001.11:g.5874953C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59734;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=116606479 | |
| 1 5874954 290383 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=274620;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874954G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373285520 | |
| 1 5874956 499335 C T . . AF_EXAC=0.00004;ALLELEID=490759;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874956C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770053255 | |
| 1 5874959 286338 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=270575;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874959C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377683582 | |
| 1 5874966 594595 C T . . ALLELEID=585658;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874966C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5874973 496917 T TGGAGC . . ALLELEID=488341;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874974_5874978dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398124289 | |
| 1 5874978 497873 C T . . AF_ESP=0.00054;AF_EXAC=0.00038;AF_TGP=0.00020;ALLELEID=489297;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5874978C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146948888 | |
| 1 5874979 289035 G A . . AF_EXAC=0.00006;ALLELEID=273272;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874979G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199645515 | |
| 1 5874987 595894 C T . . ALLELEID=586955;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874987C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5874998 597313 C G . . ALLELEID=588374;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5874998C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5875004 195610 T C . . AF_ESP=0.00278;AF_EXAC=0.00275;AF_TGP=0.00260;ALLELEID=192771;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5875004T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=187947581 | |
| 1 5875016 291052 C T . . AF_ESP=0.00008;AF_EXAC=0.00023;AF_TGP=0.00060;ALLELEID=275289;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875016C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375090704 | |
| 1 5875017 595329 G A . . ALLELEID=586391;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875017G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5875026 195614 G A . . AF_EXAC=0.00003;ALLELEID=192775;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875026G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762709199 | |
| 1 5875036 167373 C T . . AF_ESP=0.00317;AF_EXAC=0.00233;AF_TGP=0.00120;ALLELEID=177195;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5875036C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM051580|UniProtKB_(protein):O75161#VAR_022543;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183885357 | |
| 1 5875037 500251 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=491675;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875037G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376773394 | |
| 1 5875042 240969 C T . . AF_ESP=0.01120;AF_EXAC=0.00324;AF_TGP=0.01178;ALLELEID=238338;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5875042C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:757641|UniProtKB_(protein):O75161#VAR_037623;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=12084067 | |
| 1 5875050 167374 G A . . AF_EXAC=0.00293;AF_TGP=0.00978;ALLELEID=177884;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5875050G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:111731;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138025088 | |
| 1 5875058 591069 CCT C . . ALLELEID=582063;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875059_5875060del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 5875069 291277 C T . . AF_EXAC=0.00011;ALLELEID=275514;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875069C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762546912 | |
| 1 5875088 502514 C T . . AF_ESP=0.00008;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=493938;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875088C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=188262700 | |
| 1 5875098 260551 C T . . AF_ESP=0.00078;AF_EXAC=0.00034;AF_TGP=0.00120;ALLELEID=250002;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified|not_provided;CLNHGVS=NC_000001.11:g.5875098C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:750489;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35575973 | |
| 1 5875099 596431 G A . . ALLELEID=587492;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875099G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5875102 167375 T . . . AF_ESP=0.84313;AF_EXAC=0.83625;AF_TGP=0.84325;ALLELEID=177885;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5875102T%3D;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS057899;GENEINFO=NPHP4:261734;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1217117155|1287637 | |
| 1 5875120 195612 G A . . ALLELEID=192773;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5875120G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=794727344 | |
| 1 5877090 502362 T C . . ALLELEID=493786;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877090T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553158243 | |
| 1 5877098 260550 C T . . AF_ESP=0.00417;AF_TGP=0.00339;ALLELEID=250003;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5877098C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=184961418 | |
| 1 5877099 593826 G A . . ALLELEID=584889;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877099G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5877102 240968 C T . . AF_ESP=0.01072;AF_EXAC=0.00467;AF_TGP=0.01338;ALLELEID=238339;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5877102C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:483967;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17028857 | |
| 1 5877103 284756 G A . . AF_TGP=0.00020;ALLELEID=268993;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877103G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201074950 | |
| 1 5877103 167376 G T . . ALLELEID=177064;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877103G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201074950 | |
| 1 5877108 95679 G A . . AF_ESP=0.35242;AF_EXAC=0.47507;AF_TGP=0.45347;ALLELEID=101576;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5877108G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:68;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3747992 | |
| 1 5877113 499758 G A . . AF_EXAC=0.00004;ALLELEID=491182;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877113G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778505641 | |
| 1 5877157 595013 C T . . ALLELEID=586075;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877157C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5877180 498685 G T . . AF_EXAC=0.00002;ALLELEID=490109;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877180G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771685224 | |
| 1 5877186 95678 C T . . AF_ESP=0.03011;AF_EXAC=0.00873;AF_TGP=0.03075;ALLELEID=101575;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5877186C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:741802;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114545322 | |
| 1 5877194 502685 G A . . AF_ESP=0.00008;AF_EXAC=0.00062;ALLELEID=494108;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5877194G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199992272 | |
| 1 5877196 594942 C T . . ALLELEID=586004;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877196C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5877200 297801 C T . . ALLELEID=282760;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5877200C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:642824;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046463 | |
| 1 5877209 297802 G A . . ALLELEID=281556;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5877209G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:717046;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046464 | |
| 1 5877223 286862 C T . . AF_ESP=0.00008;AF_EXAC=0.00018;ALLELEID=271099;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877223C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372438267 | |
| 1 5877229 462717 T C . . AF_ESP=0.00397;AF_EXAC=0.00130;AF_TGP=0.00220;ALLELEID=448383;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5877229T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113097479 | |
| 1 5877257 291103 T G . . AF_ESP=0.00055;AF_EXAC=0.00026;AF_TGP=0.00020;ALLELEID=275340;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877257T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112206586 | |
| 1 5877257 291179 TGTCCAC GGTCCAT . . ALLELEID=275416;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877257_5877263delTGTCCACinsGGTCCAT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044677 | |
| 1 5877263 291099 C T . . AF_EXAC=0.00001;ALLELEID=275336;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5877263C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_076787;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769851221 | |
| 1 5877264 594600 G A . . ALLELEID=585663;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877264G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5877267 95677 C T . . AF_ESP=0.12545;AF_EXAC=0.15110;AF_TGP=0.08946;ALLELEID=101574;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5877267C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:230;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3747990 | |
| 1 5877268 297803 G A . . AF_ESP=0.00008;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=282761;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5877268G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:550740;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369335626 | |
| 1 5877287 502039 C T . . AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=493463;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877287C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=571204647 | |
| 1 5877290 500153 C T . . ALLELEID=491577;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877290C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1412960310 | |
| 1 5877303 598346 G A . . ALLELEID=589407;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5877303G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5877331 260547 C T . . AF_ESP=0.85155;AF_EXAC=0.81079;AF_TGP=0.83267;ALLELEID=250004;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5877331C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3747989 | |
| 1 5880113 595124 C T . . ALLELEID=586186;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880113C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001575|splice_donor_variant;ORIGIN=1 | |
| 1 5880146 562354 C T . . ALLELEID=553538;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880146C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5880156 288104 G A . . AF_ESP=0.00016;AF_EXAC=0.00005;ALLELEID=272341;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880156G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372688518 | |
| 1 5880168 297804 C A . . AF_ESP=0.00104;ALLELEID=282762;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5880168C>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:126491;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199875059 | |
| 1 5880169 596220 G A . . ALLELEID=587281;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880169G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5880182 95676 C T . . AF_EXAC=0.00015;ALLELEID=101573;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880182C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398124288 | |
| 1 5880183 95675 G A . . AF_ESP=0.01589;AF_EXAC=0.01531;AF_TGP=0.00759;ALLELEID=101572;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5880183G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM022976|UniProtKB_(protein):O75161#VAR_015215;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=17472401 | |
| 1 5880194 297805 G A . . AF_ESP=0.00016;AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=283025;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5880194G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:786294;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=186014615 | |
| 1 5880198 574586 G C . . ALLELEID=557109;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5880198G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5880206 289888 C T . . AF_ESP=0.00112;AF_EXAC=0.00041;AF_TGP=0.00120;ALLELEID=274125;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5880206C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147588666 | |
| 1 5880212 596801 C T . . ALLELEID=587862;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880212C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5880215 194970 C T . . ALLELEID=192132;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5880215C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=794727229 | |
| 1 5887248 260546 G A . . AF_ESP=0.12737;AF_EXAC=0.17906;AF_TGP=0.08626;ALLELEID=250005;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5887248G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41280814 | |
| 1 5887277 594329 G T . . ALLELEID=585392;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887277G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5887306 194865 T C . . ALLELEID=192028;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887306T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=794727210 | |
| 1 5887312 297806 C T . . AF_EXAC=0.00001;ALLELEID=281559;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5887312C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:715936;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759656675 | |
| 1 5887313 287002 G A . . AF_ESP=0.00080;AF_EXAC=0.00040;AF_TGP=0.00140;ALLELEID=271239;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5887313G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200182705 | |
| 1 5887318 596800 T C . . ALLELEID=587861;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887318T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5887335 499943 G A . . AF_ESP=0.00024;AF_EXAC=0.00010;AF_TGP=0.00020;ALLELEID=491367;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887335G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376696627 | |
| 1 5887338 596621 G A . . ALLELEID=587682;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887338G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5887346 194866 T C . . AF_ESP=0.00016;AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=192029;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887346T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371429952 | |
| 1 5887352 297807 G A . . AF_EXAC=0.00001;ALLELEID=281564;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5887352G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:674068;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770004315 | |
| 1 5887394 3400 G A . . ALLELEID=18439;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:C1847013,OMIM:606966;CLNDN=Nephronophthisis|Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5887394G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0002;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852919 | |
| 1 5887403 3399 C A . . ALLELEID=18438;CLNDISDB=MedGen:C1847013,OMIM:606966;CLNDN=Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5887403C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0001;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852918 | |
| 1 5887411 156398 A T . . ALLELEID=166178;CLNDISDB=MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED_CT:193413001|MedGen:CN517202;CLNDN=Leber_congenital_amaurosis|not_provided;CLNHGVS=NC_000001.11:g.5887411A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587783026 | |
| 1 5887425 593488 G A . . ALLELEID=584552;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887425G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5887436 3404 G A . . ALLELEID=18443;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:C1846979,OMIM:606996;CLNDN=Nephronophthisis|Senior-Loken_syndrome_4;CLNHGVS=NC_000001.11:g.5887436G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0006;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852922 | |
| 1 5887444 501537 G C . . AF_ESP=0.00049;AF_TGP=0.00100;ALLELEID=492961;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887444G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201527181 | |
| 1 5887448 596273 G A . . ALLELEID=587334;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887448G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5887465 497253 T A . . AF_ESP=0.00024;AF_EXAC=0.00020;AF_TGP=0.00020;ALLELEID=488677;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5887465T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200821373 | |
| 1 5890879 95674 C T . . AF_ESP=0.00343;AF_EXAC=0.00139;AF_TGP=0.00300;ALLELEID=101571;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5890879C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022537;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149244006 | |
| 1 5890883 598644 A G . . ALLELEID=589705;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5890883A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5890912 297808 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=282765;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5890912C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:760629|UniProtKB_(protein):O75161#VAR_015214;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373962831 | |
| 1 5890913 289327 G A . . AF_ESP=0.00137;AF_EXAC=0.00113;AF_TGP=0.00020;ALLELEID=273564;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5890913G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:779323;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199628481 | |
| 1 5890915 194764 C T . . AF_ESP=0.00266;AF_EXAC=0.00100;AF_TGP=0.00319;ALLELEID=191927;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5890915C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:744993;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148424288 | |
| 1 5890921 596246 C T . . ALLELEID=587307;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5890921C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5890922 502357 G A . . AF_ESP=0.00032;ALLELEID=493781;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5890922G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201090359 | |
| 1 5890926 297809 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=281565;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5890926A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:684332;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372250881 | |
| 1 5890934 596442 G A . . ALLELEID=587503;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5890934G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5890942 297810 C T . . AF_ESP=0.00032;ALLELEID=280978;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5890942C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:604411;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199712626 | |
| 1 5890953 240967 C T . . AF_ESP=0.02421;AF_TGP=0.00938;ALLELEID=238340;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5890953C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:84615|UniProtKB_(protein):O75161#VAR_022536;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34248917 | |
| 1 5890969 194765 G A . . AF_ESP=0.00057;AF_EXAC=0.00040;AF_TGP=0.00040;ALLELEID=191928;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5890969G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022535;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=191913664 | |
| 1 5890974 156399 C T . . AF_EXAC=0.00013;ALLELEID=166179;CLNDISDB=MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED_CT:193413001|MedGen:CN517202;CLNDN=Leber_congenital_amaurosis|not_provided;CLNHGVS=NC_000001.11:g.5890974C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587783027 | |
| 1 5891002 594321 T C . . ALLELEID=585384;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5891002T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5904618 290903 A T . . AF_ESP=0.00024;AF_EXAC=0.00006;ALLELEID=275140;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5904618A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199912631 | |
| 1 5904645 297811 A G . . AF_ESP=0.00008;AF_EXAC=0.00019;ALLELEID=283026;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5904645A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:77;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200848754 | |
| 1 5904651 498789 G A . . AF_ESP=0.00024;ALLELEID=490213;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904651G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373182062 | |
| 1 5904667 500245 G A . . ALLELEID=491669;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904667G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=745698836 | |
| 1 5904680 595374 G GCTGGCCGGC . . ALLELEID=586436;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904681_5904689dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=NPHP4:261734;ORIGIN=1 | |
| 1 5904709 283814 T C . . AF_ESP=0.00016;AF_EXAC=0.00002;ALLELEID=268051;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904709T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200667197 | |
| 1 5904715 594011 C T . . ALLELEID=585074;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904715C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5904716 3401 G A . . AF_EXAC=0.00002;ALLELEID=18440;CLNDISDB=Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|MedGen:C1847013,OMIM:606966|MedGen:CN228268;CLNDN=Infertility|Nephronophthisis_4|Cerebello-oculo-renal_syndrome_(nephronophthisis,_oculomotor_apraxia_and_cerebellar_abnormalities);CLNHGVS=NC_000001.11:g.5904716G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0003;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852920 | |
| 1 5904725 501860 T C . . AF_ESP=0.00008;AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=493284;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904725T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201642456 | |
| 1 5904728 291245 C A . . ALLELEID=275482;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904728C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368101076 | |
| 1 5904728 498701 C T . . AF_ESP=0.00024;AF_EXAC=0.00007;ALLELEID=490125;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904728C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368101076 | |
| 1 5904729 240966 G A . . AF_ESP=0.01040;AF_EXAC=0.00296;AF_TGP=0.00819;ALLELEID=238341;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5904729G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:752284;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34373111 | |
| 1 5904731 499066 G A . . AF_EXAC=0.00064;AF_TGP=0.00120;ALLELEID=490490;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904731G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=547495754 | |
| 1 5904739 499988 C A . . AF_TGP=0.00120;ALLELEID=491412;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5904739C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375416303 | |
| 1 5904739 502337 C T . . AF_ESP=0.00008;ALLELEID=493761;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904739C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375416303 | |
| 1 5904749 498434 G A . . ALLELEID=489858;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904749G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=1025515771 | |
| 1 5904773 297812 G T . . ALLELEID=281570;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5904773G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:796818;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046465 | |
| 1 5904775 591589 C T . . ALLELEID=582579;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5904775C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1 | |
| 1 5904788 3405 G A . . AF_EXAC=0.00001;ALLELEID=18444;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:C1846979,OMIM:606996|MedGen:C1847013,OMIM:606966;CLNDN=Nephronophthisis|Senior-Loken_syndrome_4|Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5904788G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607215.0007;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852923 | |
| 1 5904794 194659 C T . . AF_ESP=0.00008;AF_EXAC=0.00142;AF_TGP=0.00280;ALLELEID=191822;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5904794C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:216915;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=191602135 | |
| 1 5905285 297813 G T . . ALLELEID=283037;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5905285G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:718565;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886046466 | |
| 1 5905295 595970 C T . . ALLELEID=587031;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905295C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905312 215885 T C . . AF_ESP=0.00041;AF_EXAC=0.00013;AF_TGP=0.00060;ALLELEID=212107;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5905312T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200104274 | |
| 1 5905318 297814 C T . . AF_EXAC=0.00003;ALLELEID=282769;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5905318C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:809077;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779995407 | |
| 1 5905320 194539 T C . . AF_ESP=0.00008;ALLELEID=191702;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905320T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371464727 | |
| 1 5905321 95673 C T . . AF_ESP=0.12895;AF_EXAC=0.13266;AF_TGP=0.08407;ALLELEID=101570;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5905321C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:88;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=12120967 | |
| 1 5905324 286805 G A . . AF_ESP=0.00016;AF_EXAC=0.00017;AF_TGP=0.00160;ALLELEID=271042;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5905324G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:454154;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372430727 | |
| 1 5905354 562366 CTGAG C . . ALLELEID=553550;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905355_5905358del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 5905367 597617 G A . . ALLELEID=588678;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905367G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905373 297815 G A . . AF_ESP=0.00016;AF_EXAC=0.00006;ALLELEID=283038;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5905373G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:454174;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377160096 | |
| 1 5905380 281976 T C . . AF_ESP=0.00106;AF_EXAC=0.00037;AF_TGP=0.00120;ALLELEID=266213;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5905380T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35959882 | |
| 1 5905389 595484 C T . . ALLELEID=586546;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905389C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905395 240965 C T . . AF_ESP=0.01122;AF_EXAC=0.01026;AF_TGP=0.00519;ALLELEID=238342;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:C1847013,OMIM:606966|MedGen:CN169374;CLNDN=Nephronophthisis|Nephronophthisis_4|not_specified;CLNHGVS=NC_000001.11:g.5905395C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022532;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=5;RS=571655 | |
| 1 5905396 598697 G A . . ALLELEID=589758;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905396G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5905397 501365 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=492789;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905397G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=190522911 | |
| 1 5905409 593340 T C . . ALLELEID=584404;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905409T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905434 502785 C T . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=494208;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905434C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201282741 | |
| 1 5905455 225422 TGGAG T . . ALLELEID=227216;CLNDISDB=MedGen:C1846979,OMIM:606996|MedGen:C1847013,OMIM:606966;CLNDN=Senior-Loken_syndrome_4|Nephronophthisis_4;CLNHGVS=NC_000001.11:g.5905456_5905459delGGAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=747699128 | |
| 1 5905472 594052 T C . . ALLELEID=585115;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905472T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905488 297816 G A . . AF_EXAC=0.00029;AF_TGP=0.00060;ALLELEID=283040;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5905488G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:714204;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370899989 | |
| 1 5905649 501861 CACA C . . ALLELEID=493285;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905650_5905652delACA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;ORIGIN=1;RS=1282891020 | |
| 1 5905663 597696 C G . . ALLELEID=588757;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905663C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905680 594305 G A . . ALLELEID=585368;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905680G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5905690 235419 G C . . AF_ESP=0.00419;AF_TGP=0.00559;ALLELEID=237104;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5905690G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113413307 | |
| 1 5905700 413602 G A . . AF_EXAC=0.00003;ALLELEID=391373;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5905700G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773050903 | |
| 1 5905727 297817 G A . . AF_EXAC=0.00006;ALLELEID=283041;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5905727G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:134948;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753733095 | |
| 1 5905742 595678 G A . . ALLELEID=586740;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5905742G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5905763 194411 G A . . AF_ESP=0.00025;AF_EXAC=0.00080;AF_TGP=0.00040;ALLELEID=191574;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5905763G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:269977;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201903713 | |
| 1 5905764 260545 G C . . AF_ESP=0.02632;AF_EXAC=0.01149;AF_TGP=0.02536;ALLELEID=250006;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5905764G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:618156|UniProtKB_(protein):O75161#VAR_022531;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=12093500 | |
| 1 5905773 282763 G A . . AF_ESP=0.00289;AF_EXAC=0.00106;AF_TGP=0.00260;ALLELEID=267000;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5905773G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:672621|UniProtKB_(protein):O75161#VAR_076786;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145255635 | |
| 1 5907106 95672 G A . . AF_ESP=0.01475;AF_EXAC=0.01398;AF_TGP=0.02117;ALLELEID=101569;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5907106G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:584665;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114900019 | |
| 1 5907141 598518 C T . . ALLELEID=589579;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907141C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5907155 598512 G A . . ALLELEID=589573;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907155G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5907169 598139 C T . . ALLELEID=589200;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907169C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5907184 219984 C T . . AF_ESP=0.00701;AF_EXAC=0.00348;AF_TGP=0.00519;ALLELEID=221111;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5907184C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=35264155 | |
| 1 5907185 596495 G A . . ALLELEID=587556;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907185G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5907193 194253 C T . . AF_EXAC=0.00002;ALLELEID=191416;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907193C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=775251652 | |
| 1 5907199 297818 G A . . AF_EXAC=0.00003;ALLELEID=281571;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5907199G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:455920;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=773573886 | |
| 1 5907199 594452 G T . . ALLELEID=585515;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5907199G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5909142 297819 C T . . AF_ESP=0.00365;AF_TGP=0.00080;ALLELEID=283060;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5909142C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:94909;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41307782 | |
| 1 5909155 260544 T C . . AF_EXAC=0.00015;ALLELEID=250007;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5909155T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=753250092 | |
| 1 5909165 215518 G C . . AF_EXAC=0.01111;AF_TGP=0.00958;ALLELEID=212108;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5909165G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:122833;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=375051705 | |
| 1 5909173 215517 C T . . AF_ESP=0.00058;AF_EXAC=0.00028;AF_TGP=0.00060;ALLELEID=212109;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5909173C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=199557439 | |
| 1 5909177 499799 G A . . AF_ESP=0.00025;AF_EXAC=0.00032;ALLELEID=491223;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5909177G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201801114 | |
| 1 5909185 260543 G A . . AF_ESP=0.04646;AF_EXAC=0.05315;AF_TGP=0.04453;ALLELEID=250008;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5909185G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:83935;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=12116997 | |
| 1 5909193 297820 G A . . AF_EXAC=0.00015;ALLELEID=283062;CLNDISDB=MedGen:CN239384|MedGen:CN517202;CLNDN=NPHP4-Related_Disorders|not_provided;CLNHGVS=NC_000001.11:g.5909193G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:454178;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=778043242 | |
| 1 5909193 502353 G C . . ALLELEID=493777;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5909193G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=778043242 | |
| 1 5909200 593426 T G . . ALLELEID=584490;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5909200T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5909209 501600 C T . . AF_EXAC=0.00005;ALLELEID=493024;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5909209C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=758600868 | |
| 1 5909210 284999 G A . . AF_ESP=0.00016;AF_EXAC=0.00012;ALLELEID=269236;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5909210G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:779231;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372565083 | |
| 1 5909220 166893 G A . . AF_ESP=0.00604;AF_EXAC=0.00263;AF_TGP=0.00799;ALLELEID=177610;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5909220G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:582679;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146078470 | |
| 1 5909221 596453 G A . . ALLELEID=587514;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5909221G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5927636 95671 T C . . AF_ESP=0.18383;AF_EXAC=0.15082;AF_TGP=0.14117;ALLELEID=101568;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5927636T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:94;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7520105 | |
| 1 5927650 497880 C T . . AF_ESP=0.00016;AF_EXAC=0.00007;ALLELEID=489304;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927650C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=374690894 | |
| 1 5927653 598251 A T . . ALLELEID=589312;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927653A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5927660 286321 G A . . ALLELEID=270558;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927660G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043364 | |
| 1 5927667 503803 GTT CCACG . . ALLELEID=495085;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927667_5927669delGTTinsCCACG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553178047 | |
| 1 5927672 500561 C A . . AF_EXAC=0.00004;ALLELEID=491985;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927672C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001587|nonsense;ORIGIN=1;RS=754829412 | |
| 1 5927682 297821 G A . . AF_EXAC=0.00015;AF_TGP=0.00020;ALLELEID=282770;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5927682G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:760631;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=367686843 | |
| 1 5927697 597850 G A . . ALLELEID=588911;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927697G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5927703 598405 T C . . ALLELEID=589466;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927703T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5927714 240964 G T . . AF_ESP=0.00008;ALLELEID=238343;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5927714G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=371819898 | |
| 1 5927733 596144 C A . . ALLELEID=587205;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927733C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense;ORIGIN=1 | |
| 1 5927759 497619 C T . . AF_ESP=0.00008;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=489043;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5927759C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202179978 | |
| 1 5927760 297822 G A . . ALLELEID=282778;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5927760G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:553129;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=375090105 | |
| 1 5927771 193899 G A . . AF_EXAC=0.00009;ALLELEID=191062;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5927771G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=749571139 | |
| 1 5933163 501862 C G . . AF_ESP=0.00017;AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=493286;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933163C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202199543 | |
| 1 5933192 595730 G A . . ALLELEID=586792;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933192G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5933211 593141 A G . . ALLELEID=584205;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933211A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5933213 596232 C A . . ALLELEID=587293;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933213C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5933239 596109 T C . . ALLELEID=587170;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933239T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5933245 287256 A T . . ALLELEID=271493;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933245A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886043608 | |
| 1 5933253 297823 T C . . AF_EXAC=0.00075;AF_TGP=0.00260;ALLELEID=282780;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5933253T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:551301;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=117898549 | |
| 1 5933283 297824 A G . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=281572;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5933283A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:789442;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=368324380 | |
| 1 5933299 562343 C CGG . . ALLELEID=553527;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933299_5933300insGG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 5933322 288535 G A . . AF_ESP=0.00033;AF_EXAC=0.00015;AF_TGP=0.00020;ALLELEID=272772;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5933322G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:770341;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=372414566 | |
| 1 5933337 501849 TAAAAC T . . ALLELEID=493273;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933338_5933342delAAAAC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553180077 | |
| 1 5933338 598698 A T . . ALLELEID=589759;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5933338A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5933342 297825 C A . . AF_EXAC=0.00060;AF_TGP=0.00319;ALLELEID=280979;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5933342C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:766525;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192450719 | |
| 1 5947105 501906 T C . . AF_EXAC=0.00002;AF_TGP=0.00060;ALLELEID=493330;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947105T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=556579725 | |
| 1 5947109 290074 C T . . AF_ESP=0.00016;AF_EXAC=0.00025;AF_TGP=0.00060;ALLELEID=274311;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5947109C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=188020560 | |
| 1 5947134 199135 C A . . AF_EXAC=0.00070;AF_TGP=0.00319;ALLELEID=196294;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5947134C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=201464887 | |
| 1 5947136 595176 C T . . ALLELEID=586238;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947136C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5947144 199134 A G . . ALLELEID=196293;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947144A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=794727973 | |
| 1 5947158 297826 C T . . ALLELEID=280984;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5947158C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:260742;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=562484051 | |
| 1 5947173 595290 G A . . ALLELEID=586352;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947173G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5947175 288723 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=272960;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947175C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=377155892 | |
| 1 5947176 297827 G A . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=281573;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5947176G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:545212;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=560597983 | |
| 1 5947177 591866 A C . . ALLELEID=582855;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947177A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5947193 500412 G A . . AF_EXAC=0.00001;ALLELEID=491836;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947193G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777428281 | |
| 1 5947198 594214 C T . . ALLELEID=585277;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947198C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5947199 281181 G A . . AF_ESP=0.00073;AF_EXAC=0.00139;AF_TGP=0.00200;ALLELEID=265418;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374;CLNDN=Nephronophthisis|not_specified;CLNHGVS=NC_000001.11:g.5947199G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022529;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=190940697 | |
| 1 5947206 595791 C G . . ALLELEID=586853;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947206C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5947217 593988 C G . . ALLELEID=585051;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947217C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5947218 95670 T C . . AF_EXAC=0.00002;ALLELEID=101567;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947218T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=398124287 | |
| 1 5947226 285517 C T . . AF_EXAC=0.00002;ALLELEID=269754;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5947226C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=772219240 | |
| 1 5948116 531618 G A . . AF_EXAC=0.00012;ALLELEID=515992;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN517202;CLNDN=Nephronophthisis|not_provided;CLNHGVS=NC_000001.11:g.5948116G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761345213 | |
| 1 5948117 198869 C T . . AF_ESP=0.00117;AF_EXAC=0.00027;AF_TGP=0.00060;ALLELEID=196029;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948117C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=115272639 | |
| 1 5948118 500336 G A . . AF_ESP=0.00008;AF_TGP=0.00120;ALLELEID=491760;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5948118G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200684272 | |
| 1 5948153 593566 G A . . ALLELEID=584630;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948153G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5948160 502735 G A . . AF_EXAC=0.00017;ALLELEID=494158;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948160G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=527701970 | |
| 1 5948173 531622 AGCCCAGACCATTGTGCAC G . . ALLELEID=516055;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5948173_5948191del19insG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=NPHP4:261734;ORIGIN=1;RS=1553186265 | |
| 1 5948192 594338 G A . . ALLELEID=585401;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948192G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5948194 291291 C A . . AF_EXAC=0.00010;ALLELEID=275528;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948194C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=755124987 | |
| 1 5948205 598727 C A . . ALLELEID=589788;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948205C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5948206 498135 G A . . AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=489559;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948206G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=189511182 | |
| 1 5948241 593270 G A . . ALLELEID=584334;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5948241G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5948242 297828 G C . . ALLELEID=283071;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5948242G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:91712;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886046467 | |
| 1 5952710 288173 T A . . AF_ESP=0.00127;AF_EXAC=0.00111;AF_TGP=0.00040;ALLELEID=272410;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5952710T>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:124375;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201124357 | |
| 1 5952720 595439 C T . . ALLELEID=586501;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5952720C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5952721 288804 G A . . AF_EXAC=0.00010;ALLELEID=273041;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5952721G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=760440073 | |
| 1 5952796 499981 C G . . ALLELEID=491405;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5952796C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1011986078 | |
| 1 5952797 198564 G T . . ALLELEID=195725;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5952797G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=752644932 | |
| 1 5952832 501680 G A . . AF_EXAC=0.00004;ALLELEID=493104;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5952832G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=755363322 | |
| 1 5961785 499366 C T . . AF_ESP=0.00016;AF_EXAC=0.00017;ALLELEID=490790;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961785C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368961102 | |
| 1 5961795 502563 G A . . ALLELEID=493987;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961795G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=899131824 | |
| 1 5961845 499232 C T . . AF_EXAC=0.00001;ALLELEID=490656;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961845C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759490134 | |
| 1 5961848 598669 G A . . ALLELEID=589730;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961848G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5961867 501076 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=492500;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961867G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376039101 | |
| 1 5961868 240971 T C . . ALLELEID=238344;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5961868T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854994 | |
| 1 5961873 498757 C G . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=490181;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961873C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141538649 | |
| 1 5961904 593910 G A . . ALLELEID=584973;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961904G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5961908 597923 A G . . ALLELEID=588984;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5961908A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5967305 502177 C A . . ALLELEID=493601;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5967305C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113765431 | |
| 1 5967305 235474 C T . . AF_ESP=0.00363;AF_EXAC=0.00199;AF_TGP=0.00459;ALLELEID=237156;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5967305C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=113765431 | |
| 1 5967306 593849 G A . . ALLELEID=584912;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5967306G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5967313 502367 T C . . AF_EXAC=0.00005;ALLELEID=493791;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5967313T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762284065 | |
| 1 5967324 215888 G A . . ALLELEID=212110;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5967324G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=863224422 | |
| 1 5967326 499123 G A . . AF_EXAC=0.00004;ALLELEID=490547;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5967326G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761063669 | |
| 1 5967349 297829 T C . . AF_ESP=0.00016;AF_EXAC=0.00037;ALLELEID=282783;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5967349T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:79005;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=199897869 | |
| 1 5967390 95687 C T . . AF_ESP=0.00173;AF_EXAC=0.00086;AF_TGP=0.00100;ALLELEID=101584;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5967390C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200754878 | |
| 1 5969097 598495 G C . . ALLELEID=589556;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969097G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5969120 594941 G A . . ALLELEID=586003;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969120G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5969157 500952 A G . . ALLELEID=492376;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969157A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553196752 | |
| 1 5969183 596177 C T . . ALLELEID=587238;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969183C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5969184 593928 G A . . ALLELEID=584991;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969184G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5969230 595187 G A . . ALLELEID=586249;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969230G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5969252 591140 T C . . ALLELEID=582134;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969252T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 5969263 498314 C A . . ALLELEID=489738;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969263C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190495420 | |
| 1 5969264 499936 A C . . ALLELEID=491360;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5969264A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=908276068 | |
| 1 5969265 260549 G C . . AF_EXAC=0.00027;AF_TGP=0.00040;ALLELEID=250009;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5969265G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=532995236 | |
| 1 5978223 496855 A C . . AF_ESP=0.01361;AF_EXAC=0.00491;AF_TGP=0.02137;ALLELEID=488279;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.5978223A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115690090 | |
| 1 5978259 260548 C T . . AF_ESP=0.00383;AF_EXAC=0.00151;AF_TGP=0.00459;ALLELEID=250010;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5978259C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:750493;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113902159 | |
| 1 5978264 501949 G A . . AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=493373;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978264G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199856317 | |
| 1 5978270 196470 C A . . AF_EXAC=0.00003;ALLELEID=193631;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978270C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=775927621 | |
| 1 5978275 286807 T C . . AF_EXAC=0.00026;ALLELEID=271044;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5978275T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:234655;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=762383978 | |
| 1 5978278 196471 A G . . AF_ESP=0.00128;AF_EXAC=0.00137;ALLELEID=193632;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.5978278A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75161#VAR_022528;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201065230 | |
| 1 5978282 196469 G A . . AF_ESP=0.00008;AF_EXAC=0.00011;ALLELEID=193630;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978282G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=372171438 | |
| 1 5978286 289039 C T . . ALLELEID=273276;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978286C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886044065 | |
| 1 5978292 297830 G A . . AF_ESP=0.00024;AF_EXAC=0.00017;ALLELEID=280985;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN517202;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_provided;CLNHGVS=NC_000001.11:g.5978292G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:255814;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201998215 | |
| 1 5978295 501720 G A . . AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=493144;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978295G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=200272048 | |
| 1 5978321 593603 T C . . ALLELEID=584667;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978321T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 5978327 502279 C T . . AF_EXAC=0.00001;ALLELEID=493703;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978327C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=768099247 | |
| 1 5978328 594955 G A . . ALLELEID=586017;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978328G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5978346 597181 C T . . ALLELEID=588242;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978346C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5978347 596899 G A . . ALLELEID=587960;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978347G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5978347 462716 G T . . ALLELEID=448218;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5978347G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=771873685 | |
| 1 5978356 501697 CATCA C . . ALLELEID=493121;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978357_5978360delATCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NPHP4:261734;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1553200990 | |
| 1 5978373 462715 C T . . AF_ESP=0.00016;AF_EXAC=0.00018;ALLELEID=448220;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008;CLNDN=Nephronophthisis;CLNHGVS=NC_000001.11:g.5978373C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=200128117 | |
| 1 5978411 497870 G A . . AF_ESP=0.00008;AF_EXAC=0.00040;AF_TGP=0.00080;ALLELEID=489294;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5978411G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=201069164 | |
| 1 5978416 220231 AG A . . ALLELEID=221112;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5978417delG;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:639029;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143323188 | |
| 1 5978425 297831 C G . . ALLELEID=283079;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5978425C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:262792;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1;RS=371432148 | |
| 1 5986148 595164 T C . . ALLELEID=586226;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986148T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5986157 562355 G A . . ALLELEID=553539;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986157G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5986185 501692 G T . . ALLELEID=493116;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986185G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1259706450 | |
| 1 5986194 595012 C A . . ALLELEID=586074;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986194C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5986202 501168 C T . . ALLELEID=492592;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986202C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1187572016 | |
| 1 5986204 260561 G A . . AF_ESP=0.04253;AF_EXAC=0.03231;AF_TGP=0.03834;ALLELEID=250011;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNHGVS=NC_000001.11:g.5986204G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:83955|UniProtKB_(protein):O75161#VAR_022527;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=12142270 | |
| 1 5986226 594150 G A . . ALLELEID=585213;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986226G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5986251 195305 A C . . AF_ESP=0.00032;AF_EXAC=0.00005;ALLELEID=192466;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986251A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=368335406 | |
| 1 5986256 497779 C T . . AF_ESP=0.00040;AF_EXAC=0.00008;ALLELEID=489203;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986256C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201713171 | |
| 1 5986272 597896 C A . . ALLELEID=588957;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986272C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5986281 290374 G A . . AF_EXAC=0.00007;ALLELEID=274611;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986281G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=745503891 | |
| 1 5986283 500972 C T . . AF_TGP=0.00020;ALLELEID=492396;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986283C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=145078518 | |
| 1 5986284 297832 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=281583;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5986284G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:702749;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=371472576 | |
| 1 5986297 596155 G A . . ALLELEID=587216;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.5986297G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NPHP4:261734;MC=SO:0001627|intron_variant;ORIGIN=1 | |
| 1 5992257 297833 C A . . ALLELEID=283085;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992257C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:130059;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886046468 | |
| 1 5992295 297834 T A . . AF_TGP=0.00120;ALLELEID=283086;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992295T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:144634;GENEINFO=NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=527962872 | |
| 1 5992407 297835 G A . . AF_TGP=0.00040;ALLELEID=281588;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992407G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:706061;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=145074678 | |
| 1 5992411 297836 G T . . AF_TGP=0.00040;ALLELEID=280988;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992411G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636741;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=539173372 | |
| 1 5992430 297837 C T . . ALLELEID=282784;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992430C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:577650;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886046469 | |
| 1 5992440 297838 C T . . ALLELEID=281592;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992440C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:126515;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=765435500 | |
| 1 5992441 297839 G A . . AF_TGP=0.00020;ALLELEID=283087;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992441G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:253980;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=185912310 | |
| 1 5992442 297840 C G . . ALLELEID=283088;CLNDISDB=Human_Phenotype_Ontology:HP:0000090,MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia;CLNHGVS=NC_000001.11:g.5992442C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:544928;GENEINFO=KCNAB2:8514|NPHP4:261734;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=867788720 | |
| 1 6090409 522038 C T . . AF_ESP=0.00008;ALLELEID=511284;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.6090409C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KCNAB2:8514;MC=SO:0001587|nonsense;ORIGIN=1;RS=139249498 | |
| 1 6098509 218544 A G . . AF_ESP=0.00277;AF_EXAC=0.00076;AF_TGP=0.00419;ALLELEID=215211;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6098509A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KCNAB2:8514;MC=SO:0001583|missense_variant;ORIGIN=0;RS=146277144 | |
| 1 6254689 208391 G A . . AF_EXAC=0.00002;ALLELEID=204612;CLNDISDB=MedGen:C0036346;CLNDN=Childhood-Onset_Schizophrenia;CLNHGVS=NC_000001.11:g.6254689G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GPR153:387509;MC=SO:0001583|missense_variant;ORIGIN=32;RS=776061422 | |
| 1 6281179 450125 A G . . ALLELEID=442871;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6281179A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ACOT7:11332;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553155214 | |
| 1 6425196 452345 G A . . AF_EXAC=0.00007;ALLELEID=442874;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6425196G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768679881 | |
| 1 6425219 594412 G A . . ALLELEID=585475;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6425219G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001587|nonsense;ORIGIN=1 | |
| 1 6425247 452503 C T . . ALLELEID=442875;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6425247C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001587|nonsense;ORIGIN=1;RS=1220317427 | |
| 1 6428268 228670 C T . . AF_ESP=0.00015;AF_EXAC=0.00050;AF_TGP=0.00040;ALLELEID=228498;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6428268C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143577178 | |
| 1 6428313 180073 G T . . ALLELEID=172590;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6428313G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145666801 | |
| 1 6428370 179234 G A . . ALLELEID=172452;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6428370G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504727 | |
| 1 6440335 514415 C T . . AF_EXAC=0.00017;ALLELEID=498575;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6440335C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764920815 | |
| 1 6440449 508703 C T . . AF_ESP=0.01330;AF_EXAC=0.00750;AF_TGP=0.01238;ALLELEID=498788;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6440449C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186770747 | |
| 1 6440652 508130 C G . . AF_EXAC=0.09823;ALLELEID=498552;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6440652C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367944375 | |
| 1 6440656 508587 C G . . AF_ESP=0.02957;AF_EXAC=0.00841;AF_TGP=0.03814;ALLELEID=498764;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6440656C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=6678405 | |
| 1 6440984 226636 C G . . AF_ESP=0.15845;AF_EXAC=0.19493;AF_TGP=0.18211;ALLELEID=228499;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6440984C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2311045 | |
| 1 6441006 228671 C A . . ALLELEID=228500;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6441006C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766939513 | |
| 1 6441010 449818 C T . . AF_ESP=0.00015;AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=442876;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6441010C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=189442618 | |
| 1 6444506 163411 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=172591;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444506G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148390614 | |
| 1 6444515 228668 C T . . AF_EXAC=0.00009;AF_TGP=0.00060;ALLELEID=228501;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444515C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199502924 | |
| 1 6444538 163412 C T . . AF_ESP=0.00069;AF_EXAC=0.00027;AF_TGP=0.00100;ALLELEID=172453;CLNDISDB=MedGen:C1837007,OMIM:609006|MedGen:CN169374;CLNDN=Deafness,_autosomal_recessive_36,_with_or_without_vestibular_involvement|not_specified;CLNHGVS=NC_000001.11:g.6444538C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=9;RS=115143295 | |
| 1 6444539 227356 C G . . AF_ESP=0.00008;AF_TGP=0.00100;ALLELEID=228502;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444539C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143645714 | |
| 1 6444559 178607 C T . . AF_ESP=0.00907;AF_EXAC=0.00255;AF_TGP=0.00699;ALLELEID=172592;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444559C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=116413227 | |
| 1 6444570 227357 G A . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=228503;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444570G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373242735 | |
| 1 6444584 179446 C T . . AF_EXAC=0.00002;ALLELEID=172454;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444584C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201251427 | |
| 1 6444594 163413 T G . . AF_ESP=0.00346;AF_EXAC=0.00109;AF_TGP=0.00319;ALLELEID=172593;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.6444594T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142638391 | |
| 1 6444690 227358 T C . . ALLELEID=228504;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6444690T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=876657461 | |
| 1 6445661 513456 C T . . AF_ESP=0.00100;AF_EXAC=0.00033;AF_TGP=0.00080;ALLELEID=498581;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6445661C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201999263 | |
| 1 6445757 517052 C T . . AF_ESP=0.00500;AF_EXAC=0.00933;AF_TGP=0.00180;ALLELEID=498794;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6445757C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139266211 | |
| 1 6445936 450999 G A . . AF_EXAC=0.00002;ALLELEID=442877;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6445936G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=752649606 | |
| 1 6448652 508562 T C . . AF_ESP=0.15391;AF_EXAC=0.15582;AF_TGP=0.22983;ALLELEID=498582;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6448652T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=77656032 | |
| 1 6448812 508563 C T . . AF_EXAC=0.25540;AF_TGP=0.21625;ALLELEID=498553;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6448812C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138198721 | |
| 1 6448885 445819 C T . . AF_EXAC=0.07171;AF_TGP=0.01038;ALLELEID=439091;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.6448885C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=527968078 | |
| 1 6448936 449865 C T . . ALLELEID=442878;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6448936C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1052745208 | |
| 1 6448961 508596 GCCACCGCCGCCC G . . AF_EXAC=0.00070;AF_TGP=0.00160;ALLELEID=498584;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.6448973_6448984delCCCACCGCCGCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ESPN:83715;ORIGIN=1;RS=548962140 | |
| 1 6451604 382548 C T . . ALLELEID=365177;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451604C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057521382 | |
| 1 6451634 227359 G A . . AF_ESP=0.00008;ALLELEID=228505;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451634G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=377497281 | |
| 1 6451637 226633 C T . . AF_ESP=0.00192;AF_EXAC=0.00055;AF_TGP=0.00140;ALLELEID=228506;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451637C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=116163286 | |
| 1 6451713 179396 A G . . ALLELEID=172455;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451713A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504842 | |
| 1 6451714 517440 C G . . AF_EXAC=0.00050;ALLELEID=496665;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451714C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771737095 | |
| 1 6451755 226634 G A . . AF_ESP=0.00008;AF_EXAC=0.00151;AF_TGP=0.00180;ALLELEID=228507;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451755G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369405672 | |
| 1 6451841 226635 G A . . AF_ESP=0.00593;AF_EXAC=0.00583;AF_TGP=0.00220;ALLELEID=228508;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451841G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142850918 | |
| 1 6451891 228669 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=228509;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451891C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=576917953 | |
| 1 6451921 523541 A G . . AF_EXAC=0.00002;ALLELEID=513902;CLNDISDB=Human_Phenotype_Ontology:HP:0000407,MedGen:C0018784,SNOMED_CT:60700002;CLNDN=Sensorineural_hearing_loss;CLNHGVS=NC_000001.11:g.6451921A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID01020;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=0;RS=921702586 | |
| 1 6451926 4420 A C . . AF_EXAC=0.00001;ALLELEID=19459;CLNDISDB=MedGen:CN068820;CLNDN=Deafness,_without_vestibular_involvement,_autosomal_dominant;CLNHGVS=NC_000001.11:g.6451926A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:606351.0003|UniProtKB_(protein):B1AK53#VAR_043453;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908134 | |
| 1 6451986 504568 C G . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=496629;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6451986C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368795540 | |
| 1 6452001 4421 G A . . ALLELEID=19460;CLNDISDB=MedGen:CN068820|MedGen:CN517202;CLNDN=Deafness,_without_vestibular_involvement,_autosomal_dominant|not_provided;CLNHGVS=NC_000001.11:g.6452001G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:199454|OMIM_Allelic_Variant:606351.0004|UniProtKB_(protein):B1AK53#VAR_043454;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908135 | |
| 1 6452024 227360 C T . . ALLELEID=228510;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6452024C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371034506 | |
| 1 6452028 225044 T C . . ALLELEID=226886;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:CN169374;CLNDN=Inborn_genetic_diseases|not_specified;CLNHGVS=NC_000001.11:g.6452028T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=869312937 | |
| 1 6452092 4422 G A . . ALLELEID=19461;CLNDISDB=MedGen:CN068820;CLNDN=Deafness,_without_vestibular_involvement,_autosomal_dominant;CLNHGVS=NC_000001.11:g.6452092G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:606351.0005|UniProtKB_(protein):B1AK53#VAR_043455;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908136 | |
| 1 6457223 560535 TGGAGGCGGGACCTCCTGC T . . ALLELEID=551614;CLNDISDB=MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;CLNDN=Usher_syndrome,_type_1;CLNHGVS=NC_000001.11:g.6457227_6457244del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ESPN:83715;ORIGIN=1 | |
| 1 6457275 227361 G A . . ALLELEID=228511;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6457275G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=876657462 | |
| 1 6460067 449866 C T . . AF_ESP=0.00100;AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=442879;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6460067C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147707189 | |
| 1 6460076 562076 AC A . . ALLELEID=553249;CLNDISDB=MedGen:C1837007,OMIM:609006;CLNDN=Deafness,_autosomal_recessive_36,_with_or_without_vestibular_involvement;CLNHGVS=NC_000001.11:g.6460077del;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ESPN:83715;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 6460085 163414 G A . . AF_EXAC=0.00003;ALLELEID=172594;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6460085G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503039 | |
| 1 6460133 505061 T G . . AF_EXAC=0.00002;ALLELEID=496212;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6460133T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752357040 | |
| 1 6460152 227355 G A . . AF_EXAC=0.00033;AF_TGP=0.00120;ALLELEID=228512;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6460152G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ESPN:83715;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=200806495 | |
| 1 6466123 297904 G A . . AF_ESP=0.16589;AF_EXAC=0.16938;AF_TGP=0.20228;ALLELEID=281043;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466123G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59628;GENEINFO=TNFRSF25:8718|PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3007417 | |
| 1 6466142 297905 CCGTGCTCT C . . ALLELEID=281645;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466143_6466150delCGTGCTCT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495526;GENEINFO=TNFRSF25:8718|PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=45616733 | |
| 1 6466180 297906 GCGCC G . . ALLELEID=281648;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466181_6466184delCGCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495528;GENEINFO=TNFRSF25:8718|PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=45542640 | |
| 1 6466209 297907 A G . . ALLELEID=283149;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466209A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764480;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046485 | |
| 1 6466216 297908 C A . . ALLELEID=281650;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466216C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:648484;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046486 | |
| 1 6466250 297909 G A . . AF_TGP=0.01258;ALLELEID=281654;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466250G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:234239;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=45574533 | |
| 1 6466259 297910 C T . . AF_TGP=0.08626;ALLELEID=281658;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466259C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59651;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=45604837 | |
| 1 6466274 297911 G C . . ALLELEID=282863;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466274G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:126525;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046487 | |
| 1 6466405 297912 C G . . AF_TGP=0.20427;ALLELEID=283150;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466405C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59665;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=2986754 | |
| 1 6466511 297913 C T . . AF_TGP=0.00659;ALLELEID=281660;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466511C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:108969;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=148036862 | |
| 1 6466547 297914 T C . . ALLELEID=283151;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466547T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:607367;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046488 | |
| 1 6466557 297915 G A . . ALLELEID=282864;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466557G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:661626;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046489 | |
| 1 6466573 297916 G A . . AF_TGP=0.20108;ALLELEID=283153;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466573G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:83938;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3007418 | |
| 1 6466581 297917 T TG . . ALLELEID=281044;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466582dupG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:698518;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=553519753 | |
| 1 6466658 297918 C T . . ALLELEID=283155;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466658C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:627433;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046490 | |
| 1 6466720 297919 C A . . AF_TGP=0.00799;ALLELEID=283156;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466720C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78812;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=12735472 | |
| 1 6466762 297920 C T . . ALLELEID=281048;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466762C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:292060;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046491 | |
| 1 6466788 297921 A C . . ALLELEID=281661;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466788A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:800356;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046492 | |
| 1 6466797 297922 TA T . . ALLELEID=283165;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466798delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:692946;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=372197062 | |
| 1 6466798 297923 A T . . AF_TGP=0.03135;ALLELEID=283157;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466798A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:582681;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=538175057 | |
| 1 6466812 297924 AG A . . ALLELEID=283172;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466813delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:686255;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046493 | |
| 1 6466866 297925 G A . . AF_TGP=0.04573;ALLELEID=282865;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6466866G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3176900 | |
| 1 6467008 297926 A T . . ALLELEID=281663;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467008A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:793149;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046494 | |
| 1 6467200 297927 G C . . ALLELEID=281666;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467200G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:600729;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=186882493 | |
| 1 6467273 297928 A G . . AF_TGP=0.26697;ALLELEID=282866;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467273A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=14708 | |
| 1 6467371 297929 C T . . ALLELEID=282869;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467371C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:450768;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046495 | |
| 1 6467455 297930 C T . . AF_TGP=0.00519;ALLELEID=281049;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467455C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:659475;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=11800788 | |
| 1 6467495 297931 G A . . ALLELEID=283173;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467495G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:686043;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886046496 | |
| 1 6467536 297932 A G . . AF_ESP=0.00423;AF_EXAC=0.01063;AF_TGP=0.01178;ALLELEID=281054;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467536A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:122848;GENEINFO=PLEKHG5:57449;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=117494970 | |
| 1 6467816 391775 G A . . AF_ESP=0.00031;AF_EXAC=0.00018;AF_TGP=0.00060;ALLELEID=365178;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6467816G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144809602 | |
| 1 6467861 568425 C T . . ALLELEID=557356;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6467861C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 6467884 297933 G A . . ALLELEID=282872;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6467884G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:827456;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=886046497 | |
| 1 6467903 574034 G A . . ALLELEID=557405;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6467903G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 6467936 246207 C A . . AF_ESP=0.00008;ALLELEID=244276;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6467936C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=376606416 | |
| 1 6467950 577879 C T . . ALLELEID=558024;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6467950C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1 | |
| 1 6467969 195526 C T . . AF_EXAC=0.00004;ALLELEID=192687;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6467969C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=773530688 | |
| 1 6467972 572080 T C . . ALLELEID=558026;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6467972T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 | |
| 1 6467988 246359 C A . . ALLELEID=244277;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6467988C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879254222 | |
| 1 6467999 468912 G A . . AF_EXAC=0.00005;ALLELEID=448277;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6467999G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=751158651 | |
| 1 6468009 287488 C G . . AF_ESP=0.02035;AF_EXAC=0.01144;AF_TGP=0.02376;ALLELEID=271725;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468009C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:108993;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=114619322 | |
| 1 6468034 282038 G A . . ALLELEID=266275;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6468034G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=886042289 | |
| 1 6468047 426958 C T . . AF_ESP=0.00016;ALLELEID=414805;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468047C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=376237905 | |
| 1 6468074 297934 TGAG T . . ALLELEID=281667;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6468075_6468077delGAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:635457;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536097668 | |
| 1 6468085 380622 C T . . AF_ESP=0.00023;AF_EXAC=0.00032;AF_TGP=0.00080;ALLELEID=365179;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468085C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=370666430 | |
| 1 6468090 297935 T G . . AF_TGP=0.00020;ALLELEID=281668;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468090T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:713237;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=187886272 | |
| 1 6468108 536782 G A . . ALLELEID=516031;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468108G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1334075760 | |
| 1 6468116 195527 A G . . AF_EXAC=0.00002;ALLELEID=192688;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6468116A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764378556 | |
| 1 6468123 468911 G A . . AF_EXAC=0.00009;ALLELEID=448402;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468123G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774696513 | |
| 1 6468138 468910 G A . . AF_EXAC=0.00003;ALLELEID=448323;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468138G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750132016 | |
| 1 6468145 297936 G A . . AF_EXAC=0.00001;ALLELEID=283176;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468145G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:670585;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755539639 | |
| 1 6468145 389931 G C . . ALLELEID=365183;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468145G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755539639 | |
| 1 6468153 581116 G C . . ALLELEID=557358;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468153G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6468159 393217 C T . . AF_ESP=0.00063;AF_EXAC=0.00029;AF_TGP=0.00100;ALLELEID=365380;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468159C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200407689 | |
| 1 6468202 297937 G A . . AF_ESP=0.00016;AF_TGP=0.00080;ALLELEID=282874;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468202G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:729272;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367560509 | |
| 1 6468224 297938 G A . . ALLELEID=283179;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6468224G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:685403;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046498 | |
| 1 6468226 468909 C T . . AF_ESP=0.00008;AF_EXAC=0.00010;AF_TGP=0.00060;ALLELEID=448278;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6468226C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373880458 | |
| 1 6468227 246413 G A . . AF_EXAC=0.00005;ALLELEID=244278;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468227G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=772693344 | |
| 1 6468242 235230 T C . . AF_ESP=0.01647;AF_EXAC=0.00497;AF_TGP=0.01158;ALLELEID=236918;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6468242T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:113127|Illumina_Clinical_Services_Laboratory,Illumina:777306;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3007419 | |
| 1 6468254 297939 C T . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=282876;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6468254C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:437432;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=565558161 | |
| 1 6468255 384612 G A . . AF_ESP=0.00410;AF_EXAC=0.00129;AF_TGP=0.00300;ALLELEID=365185;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468255G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148560273 | |
| 1 6468257 426600 C T . . AF_EXAC=0.00001;ALLELEID=414806;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468257C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765235144 | |
| 1 6468258 569860 G A . . ALLELEID=558028;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468258G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6468260 287487 C T . . AF_ESP=0.02458;AF_EXAC=0.00805;AF_TGP=0.02476;ALLELEID=271724;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468260C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:109020;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61737997 | |
| 1 6468272 195528 G A . . AF_EXAC=0.00004;ALLELEID=192689;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6468272G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768995193 | |
| 1 6468293 297940 C T . . AF_EXAC=0.00010;ALLELEID=282883;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468293C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:678524;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761000380 | |
| 1 6468294 566096 G A . . ALLELEID=557360;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468294G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001587|nonsense;ORIGIN=1 | |
| 1 6468298 536789 G T . . AF_EXAC=0.00003;ALLELEID=516067;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468298G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776995250 | |
| 1 6468311 245769 C T . . AF_ESP=0.00015;AF_EXAC=0.00021;ALLELEID=244279;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6468311C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149682441 | |
| 1 6468312 580576 G A . . ALLELEID=557362;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468312G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6468330 468908 T C . . AF_EXAC=0.00001;ALLELEID=448288;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468330T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752621606 | |
| 1 6468347 536768 A G . . ALLELEID=516194;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468347A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764007395 | |
| 1 6468351 297941 C A . . AF_EXAC=0.00038;AF_TGP=0.00020;ALLELEID=282886;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6468351C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:99572;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200162521 | |
| 1 6468378 60779 C G . . ALLELEID=75318;CLNDISDB=MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468378C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:611101.0005;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202191898 | |
| 1 6468378 234692 C T . . AF_TGP=0.00200;ALLELEID=231498;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468378C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202191898 | |
| 1 6468379 297942 G A . . AF_ESP=0.00008;AF_EXAC=0.00026;AF_TGP=0.00020;ALLELEID=282891;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468379G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:785995;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=184541137 | |
| 1 6468401 536781 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=516037;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468401G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145009237 | |
| 1 6468403 287911 G A . . ALLELEID=272148;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6468403G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:489821;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759272412 | |
| 1 6468404 579284 C T . . ALLELEID=557407;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468404C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6468405 290013 G A . . AF_EXAC=0.00029;AF_TGP=0.00040;ALLELEID=274250;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6468405G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=538561788 | |
| 1 6468408 285567 C T . . AF_ESP=0.04794;AF_EXAC=0.06207;AF_TGP=0.04014;ALLELEID=269804;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6468408C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:40;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76625876 | |
| 1 6468409 297943 G A . . AF_ESP=0.00008;AF_EXAC=0.00014;ALLELEID=283208;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468409G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:674420;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369876443 | |
| 1 6468412 385221 C T . . AF_ESP=0.00023;AF_EXAC=0.00007;ALLELEID=365187;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468412C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=151184761 | |
| 1 6468416 297944 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=283210;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6468416G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:550742;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371547045 | |
| 1 6468426 297945 G A . . ALLELEID=281055;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6468426G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:285780;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046499 | |
| 1 6468446 468907 G A . . AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=448404;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468446G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111724922 | |
| 1 6468458 284266 G GC . . AF_EXAC=0.00001;ALLELEID=268503;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468459dupC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PLEKHG5:57449;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=753593088 | |
| 1 6468468 468906 TGA T . . ALLELEID=448208;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468469_6468470delGA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=759212541 | |
| 1 6468475 508904 G A . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=498557;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468475G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201054338 | |
| 1 6468505 297946 G A . . AF_ESP=0.01046;AF_EXAC=0.00972;AF_TGP=0.00240;ALLELEID=281060;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468505G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:72993;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61749272 | |
| 1 6468517 291269 G A . . AF_ESP=0.00631;AF_TGP=0.00639;ALLELEID=275506;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468517G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80031446 | |
| 1 6468517 387804 G C . . ALLELEID=365448;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6468517G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80031446 | |
| 1 6468529 285568 C T . . AF_ESP=0.06261;AF_EXAC=0.05353;AF_TGP=0.05571;ALLELEID=269805;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6468529C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47227;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3138150 | |
| 1 6468530 429408 G A . . ALLELEID=421254;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468530G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1000775772 | |
| 1 6468543 598331 C G . . ALLELEID=589392;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6468543C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6468555 387281 T C . . ALLELEID=365349;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468555T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201647966 | |
| 1 6468568 536776 C T . . AF_EXAC=0.00002;ALLELEID=516068;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6468568C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757831916 | |
| 1 6468599 513202 G A . . AF_EXAC=0.00051;AF_TGP=0.00120;ALLELEID=498767;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6468599G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=547780813 | |
| 1 6469035 388097 G C . . ALLELEID=365382;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469035G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1057523000 | |
| 1 6469038 297947 G A . . AF_EXAC=0.00002;ALLELEID=281669;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6469038G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:790429;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=751575330 | |
| 1 6469058 468905 G T . . AF_EXAC=0.00001;ALLELEID=448325;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469058G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756501907 | |
| 1 6469064 536774 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=516073;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469064C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145073653 | |
| 1 6469065 391000 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=365385;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469065G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370761668 | |
| 1 6469078 572214 A T . . ALLELEID=557409;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469078A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6469079 468904 T C . . AF_EXAC=0.00001;ALLELEID=448405;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469079T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778686532 | |
| 1 6469090 297948 G A . . AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=281062;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6469090G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:704192;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=554772993 | |
| 1 6469122 297949 T TTCC . . AF_TGP=0.09724;ALLELEID=281687;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469123_6469125dupTCC;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:819222;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=113541584 | |
| 1 6469122 297950 T TTCCTCC . . AF_TGP=0.09724;ALLELEID=282892;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469123_6469128dupTCCTCC;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:625086;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=113541584 | |
| 1 6469122 194979 TTCC T . . AF_TGP=0.09724;ALLELEID=192141;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6469123_6469125delTCC;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495532;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=113541584 | |
| 1 6469122 194977 TTCCTCC T . . AF_TGP=0.09724;ALLELEID=192139;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469123_6469128delTCCTCC;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=113541584 | |
| 1 6469122 514904 TTCCTCCTCCTCCTCCTCC T . . AF_TGP=0.09724;ALLELEID=498586;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469123_6469140del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=113541584 | |
| 1 6469127 297951 C T . . AF_ESP=0.00008;AF_EXAC=0.00042;AF_TGP=0.00160;ALLELEID=281068;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469127C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:631847;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201551894 | |
| 1 6469128 506401 C CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCA . . ALLELEID=498589;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469129_6469164dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=1553173380 | |
| 1 6469128 194978 C T . . AF_ESP=0.12533;AF_EXAC=0.07938;AF_TGP=0.12001;ALLELEID=192140;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6469128C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:52;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=62639695 | |
| 1 6469128 468903 CTCC T . . ALLELEID=448212;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469128_6469131delCTCCinsT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=386628081 | |
| 1 6469131 284506 C T . . ALLELEID=268743;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6469131C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:483979;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=867638588 | |
| 1 6469134 468902 C CTCT . . ALLELEID=448334;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469134_6469135insTCT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=1553173388 | |
| 1 6469137 517681 C CTCCTCCTCCTCT . . ALLELEID=498592;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469138_6469149dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=1553173393 | |
| 1 6469159 297952 T C . . ALLELEID=281688;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6469159T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:703690;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046500 | |
| 1 6469160 493017 G C . . AF_EXAC=0.00002;ALLELEID=485980;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6469160G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761272621 | |
| 1 6469167 468901 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=448303;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469167C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370521517 | |
| 1 6469221 468900 A G . . AF_ESP=0.00038;AF_EXAC=0.00034;AF_TGP=0.00040;ALLELEID=448308;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469221A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141100808 | |
| 1 6469238 489025 G A . . AF_EXAC=0.00002;ALLELEID=481599;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6469238G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001587|nonsense;ORIGIN=1;RS=772217003 | |
| 1 6469258 517808 G T . . ALLELEID=498593;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469258G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553173486 | |
| 1 6469326 515435 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=498571;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469326T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368743607 | |
| 1 6469367 468899 G A . . AF_EXAC=0.00002;ALLELEID=448309;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469367G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747057331 | |
| 1 6469383 194881 A G . . AF_ESP=0.28718;AF_EXAC=0.17234;AF_TGP=0.26957;ALLELEID=192043;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6469383A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730600 | |
| 1 6469396 60780 G A . . AF_EXAC=0.00004;ALLELEID=75319;CLNDISDB=MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469396G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:611101.0004;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397515456 | |
| 1 6469397 618833 T C . . ALLELEID=609428;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6469397T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:180125;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6469444 1019 A G . . ALLELEID=16058;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4;CLNHGVS=NC_000001.11:g.6469444A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:611101.0001;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750315 | |
| 1 6469526 388922 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=365388;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469526G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369940156 | |
| 1 6469545 194777 A G . . AF_ESP=0.00154;AF_EXAC=0.00036;AF_TGP=0.00040;ALLELEID=191940;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6469545A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150807400 | |
| 1 6469563 390910 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=365188;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469563G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373154779 | |
| 1 6469581 386661 G A . . AF_ESP=0.00131;AF_EXAC=0.00048;AF_TGP=0.00120;ALLELEID=365460;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469581G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61732221 | |
| 1 6469594 297953 C T . . AF_ESP=0.00015;AF_EXAC=0.00009;ALLELEID=281689;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469594C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:253892;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144245744 | |
| 1 6469637 468898 C G . . ALLELEID=448214;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469637C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752514480 | |
| 1 6469641 512877 C T . . ALLELEID=498805;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469641C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1026753861 | |
| 1 6469651 245844 G T . . ALLELEID=244280;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469651G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=553151077 | |
| 1 6469659 468897 G A . . AF_ESP=0.00069;AF_EXAC=0.00026;AF_TGP=0.00040;ALLELEID=448215;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6469659G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149147021 | |
| 1 6469673 569106 C T . . ALLELEID=558573;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6469673C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6469688 297954 G T . . AF_ESP=0.11312;AF_EXAC=0.07756;AF_TGP=0.09904;ALLELEID=281695;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6469688G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:73;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=943584 | |
| 1 6469692 513060 G T . . AF_ESP=0.00008;ALLELEID=498572;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6469692G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369955570 | |
| 1 6470253 546263 C G . . AF_ESP=0.00023;AF_EXAC=0.00005;ALLELEID=536598;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6470253C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140597591 | |
| 1 6470288 546583 C T . . ALLELEID=537072;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6470288C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553173791 | |
| 1 6470295 73890 C T . . AF_EXAC=0.00001;ALLELEID=84781;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470295C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267598690 | |
| 1 6470298 246143 C T . . ALLELEID=244281;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6470298C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760122001 | |
| 1 6470300 580820 G A . . ALLELEID=557364;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470300G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6470307 194669 C T . . AF_ESP=0.00008;ALLELEID=191832;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6470307C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143545780 | |
| 1 6470312 378378 G A . . AF_ESP=0.00277;AF_EXAC=0.00080;AF_TGP=0.00339;ALLELEID=365189;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6470312G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77134982 | |
| 1 6470329 468896 G A . . ALLELEID=448219;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470329G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1033319065 | |
| 1 6470331 378377 C T . . AF_ESP=0.00038;AF_EXAC=0.00034;ALLELEID=365461;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6470331C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200641225 | |
| 1 6470339 468895 A T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=448338;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470339A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376513313 | |
| 1 6470357 536787 T TGGGGACGGATGGCGTGAACGTAGGG . . AF_EXAC=0.00002;ALLELEID=516069;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470358_6470382dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=748372368 | |
| 1 6470363 536791 C G . . ALLELEID=516051;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470363C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139041955 | |
| 1 6470364 468894 G C . . AF_EXAC=0.00002;ALLELEID=448343;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470364G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373133607 | |
| 1 6470539 468892 C T . . AF_EXAC=0.00002;ALLELEID=448344;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470539C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770781624 | |
| 1 6470570 194553 G A . . AF_ESP=0.00039;AF_EXAC=0.00036;ALLELEID=191716;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6470570G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:777009;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370515061 | |
| 1 6470576 536775 C T . . ALLELEID=516053;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470576C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1322468026 | |
| 1 6470610 297955 T C . . AF_EXAC=0.00001;ALLELEID=281696;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6470610T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:91708;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774755047 | |
| 1 6470611 536786 C G . . ALLELEID=516202;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470611C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1488054852 | |
| 1 6470614 194554 G A . . AF_ESP=0.00008;ALLELEID=191717;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6470614G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373184968 | |
| 1 6470634 297956 C T . . AF_ESP=0.00016;AF_EXAC=0.00010;ALLELEID=281698;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6470634C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:224199;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377602965 | |
| 1 6470742 536769 A T . . AF_EXAC=0.00014;AF_TGP=0.00080;ALLELEID=516082;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470742A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=548243654 | |
| 1 6470747 389525 G A . . AF_ESP=0.00039;AF_EXAC=0.00032;ALLELEID=365190;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470747G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61734080 | |
| 1 6470758 567417 C T . . ALLELEID=557411;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470758C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6470760 392562 C T . . ALLELEID=365463;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470760C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=898550173 | |
| 1 6470763 297957 G A . . AF_EXAC=0.00000;ALLELEID=283213;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6470763G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:680446;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770934745 | |
| 1 6470764 536777 G A . . AF_EXAC=0.00026;AF_TGP=0.00020;ALLELEID=516072;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470764G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=530846615 | |
| 1 6470767 568223 C T . . ALLELEID=557413;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470767C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6470770 245888 C G . . ALLELEID=244282;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6470770C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=868161574 | |
| 1 6470782 424302 G C . . ALLELEID=405225;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470782G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064796900 | |
| 1 6470808 423300 T C . . AF_TGP=0.00020;ALLELEID=405226;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470808T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=534760199 | |
| 1 6470839 549693 T G . . ALLELEID=540440;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4;CLNHGVS=NC_000001.11:g.6470839T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1441260635 | |
| 1 6470881 536779 C G . . ALLELEID=516084;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6470881C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757292650 | |
| 1 6470965 421474 CCGCCCACGGCACGCG C . . ALLELEID=405227;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470966_6470980delCGCCCACGGCACGCG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1064795162 | |
| 1 6470990 452587 C T . . ALLELEID=442880;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470990C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1412619450 | |
| 1 6470999 511053 G A . . AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=498580;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6470999G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200957791 | |
| 1 6471003 468893 C T . . ALLELEID=448409;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471003C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1309731055 | |
| 1 6471011 282723 G A . . AF_EXAC=0.00010;ALLELEID=266960;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6471011G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776561735 | |
| 1 6471015 440163 T C . . AF_EXAC=0.00005;ALLELEID=433834;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471015T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:116866;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=759384083 | |
| 1 6471026 516478 C T . . AF_EXAC=0.00015;ALLELEID=498608;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471026C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775124601 | |
| 1 6471036 536780 A G . . ALLELEID=516205;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471036A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174146 | |
| 1 6471064 297958 T C . . AF_ESP=0.06082;AF_EXAC=0.08746;AF_TGP=0.04812;ALLELEID=281069;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6471064T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:80;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61740145 | |
| 1 6471087 567603 A G . . ALLELEID=557415;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471087A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6471090 618832 A C . . ALLELEID=609429;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6471090A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:180124;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6471096 569921 C G . . ALLELEID=557366;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471096C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6471499 536772 C T . . ALLELEID=516209;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471499C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1366436495 | |
| 1 6471505 565532 G A . . ALLELEID=557417;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471505G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6471509 514742 G A . . ALLELEID=498610;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471509G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553174252 | |
| 1 6471515 281726 G C . . AF_ESP=0.00316;AF_EXAC=0.00461;AF_TGP=0.00180;ALLELEID=265963;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6471515G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(3)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:160629|Illumina_Clinical_Services_Laboratory,Illumina:91719;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139904931 | |
| 1 6471529 297959 C T . . AF_ESP=0.06775;AF_EXAC=0.06293;AF_TGP=0.05531;ALLELEID=281077;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6471529C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47232;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74809741 | |
| 1 6471533 378376 C T . . AF_ESP=0.00054;AF_EXAC=0.00074;AF_TGP=0.00020;ALLELEID=365464;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6471533C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376823275 | |
| 1 6471554 517804 C T . . AF_EXAC=0.00001;ALLELEID=498583;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471554C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757671338 | |
| 1 6471558 450732 G C . . ALLELEID=442881;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471558G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1173364500 | |
| 1 6471590 297960 C T . . AF_ESP=0.05416;AF_EXAC=0.08305;AF_TGP=0.04892;ALLELEID=282893;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6471590C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:97;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112471131 | |
| 1 6471739 515410 C T . . ALLELEID=498587;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471739C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=746822140 | |
| 1 6471791 536788 G C . . ALLELEID=516213;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471791G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1553174372 | |
| 1 6471807 451518 A C . . AF_EXAC=0.00003;ALLELEID=442882;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471807A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762368406 | |
| 1 6471811 536785 G A . . AF_EXAC=0.00001;ALLELEID=516057;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6471811G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=772519809 | |
| 1 6471820 382568 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=365389;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471820G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182398849 | |
| 1 6471827 392960 G A . . ALLELEID=365474;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6471827G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1057524719 | |
| 1 6472519 444151 C G . . ALLELEID=437791;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6472519C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553174495 | |
| 1 6472526 451857 C T . . ALLELEID=442883;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6472526C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1553174500 | |
| 1 6472541 536784 G A . . AF_EXAC=0.00002;ALLELEID=516218;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6472541G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764053619 | |
| 1 6472569 546403 G C . . ALLELEID=536599;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6472569G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553174547 | |
| 1 6472584 392397 C T . . AF_ESP=0.00015;AF_EXAC=0.00014;AF_TGP=0.00080;ALLELEID=365195;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6472584C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199903533 | |
| 1 6472588 468891 G A . . AF_ESP=0.00138;AF_EXAC=0.00062;AF_TGP=0.00339;ALLELEID=448346;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6472588G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=72861528 | |
| 1 6472610 373421 G A . . AF_ESP=0.00023;ALLELEID=359270;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6472610G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148232621 | |
| 1 6472610 382227 G T . . ALLELEID=365392;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.6472610G>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148232621 | |
| 1 6472613 245662 G A . . AF_ESP=0.00077;AF_EXAC=0.00109;AF_TGP=0.00160;ALLELEID=244283;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6472613G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140202670 | |
| 1 6472624 493018 T C . . ALLELEID=485981;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6472624T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1553174566 | |
| 1 6472973 507496 G C . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=498808;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6472973G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202154066 | |
| 1 6472999 234903 A G . . AF_EXAC=0.00005;ALLELEID=231497;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6472999A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746862312 | |
| 1 6473039 536770 T G . . AF_ESP=0.00008;AF_EXAC=0.00022;ALLELEID=516092;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473039T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146020517 | |
| 1 6473042 297961 C T . . AF_ESP=0.00246;AF_EXAC=0.00262;AF_TGP=0.00060;ALLELEID=281708;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473042C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:267574;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61730399 | |
| 1 6473051 60778 C CGTCTTCA . . ALLELEID=75317;CLNDISDB=MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473052_6473058dupGTCTTCA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:611101.0003;GENEINFO=PLEKHG5:57449;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515455 | |
| 1 6473052 297962 G A . . AF_ESP=0.00085;AF_EXAC=0.00090;AF_TGP=0.00060;ALLELEID=281079;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473052G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BLikely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:104078|Illumina_Clinical_Services_Laboratory,Illumina:222956;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=111624565 | |
| 1 6473054 536773 C T . . AF_EXAC=0.00009;ALLELEID=516097;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473054C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781614887 | |
| 1 6473055 618329 TTCA T . . ALLELEID=609430;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6473058_6473060delATC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:185647;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6473057 450944 C T . . AF_EXAC=0.00002;ALLELEID=442884;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473057C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750943470 | |
| 1 6473061 517842 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=498773;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473061G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376900021 | |
| 1 6473088 297963 G A . . AF_ESP=0.00008;AF_EXAC=0.00008;AF_TGP=0.00040;ALLELEID=282894;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473088G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:571297;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370572859 | |
| 1 6473093 536778 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=516223;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473093G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374645103 | |
| 1 6473105 297964 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=281083;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6473105G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:489829;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373198302 | |
| 1 6473147 571053 C T . . ALLELEID=557419;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473147C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6473157 440164 C T . . AF_EXAC=0.00002;ALLELEID=433835;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473157C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:146746;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777414805 | |
| 1 6473164 297965 T A . . ALLELEID=281720;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6473164T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:703692;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046501 | |
| 1 6473183 291063 A C . . AF_EXAC=0.00003;ALLELEID=275300;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6473183A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=776663985 | |
| 1 6473238 297966 T C . . AF_EXAC=0.00004;ALLELEID=281722;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6473238T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:822358;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=766753209 | |
| 1 6473243 297967 C T . . AF_ESP=0.01138;AF_EXAC=0.00405;AF_TGP=0.01158;ALLELEID=282896;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473243C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:134955;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114275646 | |
| 1 6473253 245734 G A . . ALLELEID=244284;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473253G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879253921 | |
| 1 6473262 570070 C G . . ALLELEID=558030;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473262C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6473263 384827 G A . . AF_ESP=0.00015;AF_EXAC=0.00015;AF_TGP=0.00040;ALLELEID=365197;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473263G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61738905 | |
| 1 6473275 468918 G C . . AF_EXAC=0.00023;AF_TGP=0.00100;ALLELEID=448314;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473275G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200400689 | |
| 1 6473279 580271 G A . . ALLELEID=558575;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473279G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6473293 291065 G A . . AF_EXAC=0.00004;ALLELEID=275302;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000001.11:g.6473293G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=556687525 | |
| 1 6473327 198894 T C . . AF_ESP=0.00032;AF_EXAC=0.00049;AF_TGP=0.00020;ALLELEID=196054;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6473327T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199794578 | |
| 1 6473328 426957 C T . . AF_EXAC=0.00008;ALLELEID=414807;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473328C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765882140 | |
| 1 6473333 198895 G C . . AF_ESP=0.27271;AF_EXAC=0.22124;AF_TGP=0.28574;ALLELEID=196055;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6473333G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:102;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61741379 | |
| 1 6473339 566820 G A . . ALLELEID=558577;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473339G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6473355 198896 C T . . AF_ESP=0.00383;AF_EXAC=0.00152;AF_TGP=0.00619;ALLELEID=196056;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473355C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BLikely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:109043;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146651455 | |
| 1 6473381 285837 G T . . ALLELEID=270074;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6473381G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373678202 | |
| 1 6473391 426342 C T . . AF_EXAC=0.00000;ALLELEID=414808;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473391C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774845320 | |
| 1 6473407 386160 C T . . AF_TGP=0.00020;ALLELEID=365199;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473407C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=560366406 | |
| 1 6473408 245661 G A . . AF_ESP=0.00009;AF_EXAC=0.00007;ALLELEID=244285;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6473408G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367543633 | |
| 1 6473413 618330 C A . . ALLELEID=609431;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6473413C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:214004;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6473425 388985 C T . . ALLELEID=365476;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473425C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=973366523 | |
| 1 6473426 297968 G A . . AF_EXAC=0.00035;AF_TGP=0.00120;ALLELEID=282899;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473426G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:773511;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=572530276 | |
| 1 6473439 565690 G A . . ALLELEID=558032;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6473439G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6473468 378375 G A . . AF_EXAC=0.00055;ALLELEID=365362;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6473468G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=554879611 | |
| 1 6474032 468917 C T . . AF_TGP=0.00020;ALLELEID=448347;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474032C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=541234129 | |
| 1 6474033 297969 G A . . AF_EXAC=0.00005;AF_TGP=0.00080;ALLELEID=282904;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474033G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:609604;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183712624 | |
| 1 6474053 246293 C T . . AF_EXAC=0.00001;ALLELEID=244286;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6474053C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750080171 | |
| 1 6474057 297970 C T . . ALLELEID=281086;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6474057C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:722680;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046502 | |
| 1 6474063 245720 C T . . AF_TGP=0.00100;ALLELEID=244287;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6474063C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=527341275 | |
| 1 6474064 511105 G C . . ALLELEID=498776;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6474064G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372624847 | |
| 1 6474072 297971 C T . . AF_ESP=0.00046;AF_TGP=0.00100;ALLELEID=281723;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474072C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BLikely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:716948;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143484278 | |
| 1 6474086 198580 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=195741;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6474086C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142378760 | |
| 1 6474095 468916 G A . . AF_ESP=0.00131;AF_EXAC=0.00058;AF_TGP=0.00339;ALLELEID=448411;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474095G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=59117380 | |
| 1 6474109 572112 C G . . ALLELEID=558034;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474109C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6474109 297972 C T . . AF_ESP=0.00892;AF_TGP=0.00539;ALLELEID=282906;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474109C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:777308;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150772386 | |
| 1 6474122 246065 A G . . AF_ESP=0.00008;AF_EXAC=0.00042;AF_TGP=0.00180;ALLELEID=244288;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474122A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:827096;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140817021 | |
| 1 6474130 510813 C T . . AF_EXAC=0.00002;ALLELEID=498817;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474130C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751440606 | |
| 1 6474166 423836 T C . . AF_ESP=0.00038;AF_EXAC=0.00020;AF_TGP=0.00020;ALLELEID=405228;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6474166T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=144750655 | |
| 1 6474170 378374 T C . . AF_ESP=0.00346;AF_EXAC=0.00116;AF_TGP=0.00439;ALLELEID=365363;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474170T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202049535 | |
| 1 6474174 284648 G A . . AF_EXAC=0.00121;AF_TGP=0.00319;ALLELEID=268885;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474174G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:504950;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201656051 | |
| 1 6474181 511678 C T . . AF_ESP=0.00008;AF_TGP=0.00080;ALLELEID=498824;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6474181C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200894921 | |
| 1 6474439 297973 G C . . AF_EXAC=0.00003;ALLELEID=281091;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6474439G>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:703789;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=778853521 | |
| 1 6474460 297974 G A . . AF_EXAC=0.00003;ALLELEID=282913;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6474460G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559631;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778272514 | |
| 1 6474475 578542 C G . . ALLELEID=558036;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474475C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6474476 468915 G A . . AF_ESP=0.00023;AF_EXAC=0.00018;ALLELEID=448319;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6474476G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375075005 | |
| 1 6474478 468914 A G . . ALLELEID=448354;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474478A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1302453044 | |
| 1 6474495 245731 G A . . AF_EXAC=0.00002;ALLELEID=244289;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6474495G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761640668 | |
| 1 6474583 581341 C A . . ALLELEID=558038;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474583C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6474583 245660 C T . . AF_ESP=0.00269;AF_EXAC=0.00195;AF_TGP=0.00260;ALLELEID=244290;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6474583C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:255;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141032388 | |
| 1 6475036 536790 TC AA . . ALLELEID=516099;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475036_6475037delTCinsAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553175406 | |
| 1 6475041 468913 C T . . ALLELEID=448413;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475041C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553175409 | |
| 1 6475054 567494 ACTT A . . ALLELEID=558579;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475055_6475057del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6475075 245867 C T . . AF_ESP=0.00015;AF_EXAC=0.00005;ALLELEID=244291;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6475075C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371516662 | |
| 1 6475089 297975 A G . . AF_ESP=0.00023;AF_EXAC=0.00360;AF_TGP=0.00799;ALLELEID=281093;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6475089A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:145588|Illumina_Clinical_Services_Laboratory,Illumina:200910;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=117505788 | |
| 1 6475135 289397 G T . . ALLELEID=273634;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.6475135G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044171 | |
| 1 6475158 514841 G A . . ALLELEID=498825;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475158G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=990630026 | |
| 1 6475442 386753 G A . . AF_EXAC=0.00004;ALLELEID=365200;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475442G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=777308688 | |
| 1 6475446 513918 C A . . AF_EXAC=0.00002;ALLELEID=498778;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475446C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=751082247 | |
| 1 6475486 381312 C T . . AF_ESP=0.00008;ALLELEID=365201;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6475486C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372405586 | |
| 1 6475504 536767 G A . . ALLELEID=516060;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475504G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1366828227 | |
| 1 6475511 536783 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=516226;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475511C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376703933 | |
| 1 6475533 391180 G T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=365210;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475533G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369136414 | |
| 1 6475535 389779 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=365393;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475535G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373087396 | |
| 1 6475950 565732 T TCTCCTC . . ALLELEID=558581;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475951_6475956dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PLEKHG5:57449;ORIGIN=1 | |
| 1 6475978 391395 T C . . AF_EXAC=0.00001;ALLELEID=365365;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475978T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771144155 | |
| 1 6475981 509324 G A . . AF_EXAC=0.00003;ALLELEID=498780;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6475981G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775878865 | |
| 1 6475991 569021 C T . . ALLELEID=557368;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475991C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6475992 245659 G A . . AF_ESP=0.00354;AF_EXAC=0.00226;AF_TGP=0.00100;ALLELEID=244292;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6475992G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2)%3BLikely_benign(1)%3BUncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59542;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111400494 | |
| 1 6475993 468920 C T . . AF_ESP=0.00077;AF_EXAC=0.00046;AF_TGP=0.00100;ALLELEID=448417;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475993C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140892576 | |
| 1 6475994 575121 G A . . ALLELEID=558583;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475994G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6475997 245987 G A . . AF_ESP=0.00008;AF_EXAC=0.00015;ALLELEID=244293;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6475997G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143585428 | |
| 1 6475998 468919 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=448426;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6475998G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373539850 | |
| 1 6476007 196499 G A . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=193660;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_provided;CLNHGVS=NC_000001.11:g.6476007G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377503203 | |
| 1 6476016 281659 C T . . AF_ESP=0.00254;AF_EXAC=0.00062;AF_TGP=0.00100;ALLELEID=265896;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6476016C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112530241 | |
| 1 6476021 549691 CG C . . ALLELEID=540441;CLNDISDB=MedGen:C1866783,OMIM:182970;CLNDN=Spinal_muscular_atrophy,_facioscapulohumeral_type;CLNHGVS=NC_000001.11:g.6476022del;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PLEKHG5:57449;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553175760 | |
| 1 6476033 566688 G C . . ALLELEID=558040;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6476033G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6477508 297976 GCGGCTCC G . . ALLELEID=281097;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6477509_6477515delCGGCTCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:655729;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=527883968 | |
| 1 6477509 516578 C A . . AF_ESP=0.00023;ALLELEID=498612;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6477509C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200779049 | |
| 1 6477516 297977 C T . . AF_ESP=0.07329;AF_EXAC=0.02357;AF_TGP=0.07129;ALLELEID=281100;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6477516C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:102472;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78593902 | |
| 1 6477533 60777 TG T . . ALLELEID=75316;CLNDISDB=MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6477534delG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:611101.0002;GENEINFO=PLEKHG5:57449;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515454 | |
| 1 6477534 536771 G A . . ALLELEID=516074;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6477534G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776271244 | |
| 1 6477538 568771 G A . . ALLELEID=557421;CLNDISDB=MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867;CLNDN=Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c;CLNHGVS=NC_000001.11:g.6477538G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 6477538 246031 G T . . AF_ESP=0.00031;AF_EXAC=0.00143;AF_TGP=0.00080;ALLELEID=244294;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6477538G>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1)%3BUncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:205752;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140687324 | |
| 1 6477539 297978 A G . . AF_ESP=0.00046;AF_EXAC=0.00037;ALLELEID=282914;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374|MedGen:CN517202;CLNDN=Distal_spinal_muscular_atrophy|not_specified|not_provided;CLNHGVS=NC_000001.11:g.6477539A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2)%3BUncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:715210;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144859183 | |
| 1 6477542 297979 G A . . AF_ESP=0.00892;AF_EXAC=0.00248;AF_TGP=0.00879;ALLELEID=281101;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580|MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|Distal_spinal_muscular_atrophy,_autosomal_recessive_4|Charcot-Marie-Tooth_disease,_recessive_intermediate_c|not_specified;CLNHGVS=NC_000001.11:g.6477542G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:741806;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114209691 | |
| 1 6477550 297980 G A . . AF_EXAC=0.00003;ALLELEID=281727;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001;CLNDN=Distal_spinal_muscular_atrophy;CLNHGVS=NC_000001.11:g.6477550G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:660134;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754002297 | |
| 1 6477644 388573 G A . . AF_ESP=0.00069;AF_TGP=0.00040;ALLELEID=365216;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6477644G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=189176513 | |
| 1 6485330 380863 A T . . AF_EXAC=0.34508;AF_TGP=0.29213;ALLELEID=365398;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6485330A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=75490131 | |
| 1 6490445 380862 C T . . AF_TGP=0.19489;ALLELEID=365485;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6490445C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11806429 | |
| 1 6491632 138696 C T . . AF_TGP=0.31709;ALLELEID=142399;CLNDISDB=MedGen:C0393541,Orphanet:ORPHA53739,SNOMED_CT:230247001|MedGen:CN169374;CLNDN=Distal_spinal_muscular_atrophy|not_specified;CLNHGVS=NC_000001.11:g.6491632C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:120;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;ORIGIN=1;RS=3007429 | |
| 1 6496949 380861 A C . . AF_EXAC=0.19428;AF_TGP=0.32448;ALLELEID=365401;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6496949A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3007430 | |
| 1 6519547 380860 C T . . AF_ESP=0.77437;AF_EXAC=0.85231;AF_TGP=0.74601;ALLELEID=365374;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6519547C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PLEKHG5:57449;ORIGIN=1;RS=1556035 | |
| 1 6602317 487795 C G . . ALLELEID=480802;CLNDISDB=Human_Phenotype_Ontology:HP:0002888,MeSH:D004806,MedGen:C0014474,Orphanet:ORPHA251636,SNOMED_CT:57706008;CLNDN=Ependymoma;CLNHGVS=NC_000001.11:g.6602317C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KLHL21:9903;MC=SO:0001583|missense_variant;ORIGIN=2;RS=1292721663 | |
| 1 6640071 402790 C CA . . ALLELEID=390521;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6640072dupA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=DNAJC11:55735;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56145914 | |
| 1 6825129 520919 C G . . ALLELEID=511293;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.6825129C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553156387 | |
| 1 6825130 252997 T A . . ALLELEID=247397;CLNDISDB=MedGen:C3553661,OMIM:614756,Orphanet:ORPHA314647;CLNDN=Cerebellar_ataxia,_nonprogressive,_with_mental_retardation;CLNHGVS=NC_000001.11:g.6825130T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:19_June2016;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=16;RS=879255532 | |
| 1 6825193 422940 C T . . ALLELEID=405230;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.6825193C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064796110 | |
| 1 6825205 560237 A G . . ALLELEID=551280;CLNDISDB=MedGen:C3553661,OMIM:614756,Orphanet:ORPHA314647;CLNDN=Cerebellar_ataxia,_nonprogressive,_with_mental_retardation;CLNHGVS=NC_000001.11:g.6825205A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Geisinger_Autism_and_Developmental_Medicine_Institute,Geisinger_Health_System:ADMI00033;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 7249505 450211 C G . . ALLELEID=442885;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7249505C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553288180 | |
| 1 7249607 521550 TC T . . ALLELEID=511294;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.7249608delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553288266 | |
| 1 7467873 426755 T C . . ALLELEID=414809;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7467873T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1085307781 | |
| 1 7640502 450600 G T . . ALLELEID=442886;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7640502G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553231167 | |
| 1 7640514 426685 TG T . . ALLELEID=414810;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7640516delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1085307743 | |
| 1 7640558 423242 G A . . ALLELEID=405234;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7640558G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1064796318 | |
| 1 7661827 521355 C T . . ALLELEID=511295;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.7661827C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553238271 | |
| 1 7661860 559860 AG A . . ALLELEID=550582;CLNDISDB=MedGen:C3553661,OMIM:614756,Orphanet:ORPHA314647;CLNDN=Cerebellar_ataxia,_nonprogressive,_with_mental_retardation;CLNHGVS=NC_000001.11:g.7661861del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=0;RS=1553238311 | |
| 1 7663346 235450 TC T . . ALLELEID=237133;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663347delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200318010 | |
| 1 7663384 422992 CA C . . ALLELEID=405235;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663385delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064796146 | |
| 1 7663425 501513 G A . . AF_EXAC=0.00005;ALLELEID=492937;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663425G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753954585 | |
| 1 7663428 280872 CA C . . ALLELEID=264028;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663429delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886041999 | |
| 1 7663429 421507 A ACG . . ALLELEID=405236;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663429_7663430insCG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795180 | |
| 1 7663440 392786 G A . . ALLELEID=365412;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7663440G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524631 | |
| 1 7663528 128566 C T . . AF_ESP=0.10449;AF_EXAC=0.10783;AF_TGP=0.05950;ALLELEID=134015;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7663528C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3737906 | |
| 1 7663562 434564 A G . . AF_EXAC=0.00002;ALLELEID=427863;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7663562A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764746988 | |
| 1 7663677 418106 T TG . . ALLELEID=405237;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7663679dupG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553239242 | |
| 1 7663897 128564 G A . . AF_ESP=0.42996;AF_EXAC=0.44496;AF_TGP=0.40016;ALLELEID=134013;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7663897G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=12128526 | |
| 1 7663988 434565 A G . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=427864;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7663988A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142884344 | |
| 1 7664046 522092 G C . . ALLELEID=511296;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.7664046G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=944873688 | |
| 1 7664291 393078 G T . . ALLELEID=365375;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7664291G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057524775 | |
| 1 7664502 377146 C T . . AF_ESP=0.00108;AF_EXAC=0.00129;AF_TGP=0.00120;ALLELEID=364024;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7664502C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144242373 | |
| 1 7664541 252694 G A . . AF_EXAC=0.00001;ALLELEID=246890;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7664541G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=0;RS=754943704 | |
| 1 7664990 524037 AC A . . ALLELEID=514433;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7664993del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CAMTA1:23261;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553240332 | |
| 1 7665115 210560 G A . . AF_ESP=0.00008;AF_EXAC=0.00019;ALLELEID=206836;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7665115G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374177752 | |
| 1 7677682 431151 C T . . ALLELEID=424639;CLNDISDB=MedGen:C3553661,OMIM:614756,Orphanet:ORPHA314647;CLNDN=Cerebellar_ataxia,_nonprogressive,_with_mental_retardation;CLNHGVS=NC_000001.11:g.7677682C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1135401818 | |
| 1 7732538 493019 C T . . AF_ESP=0.00008;ALLELEID=485982;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7732538C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367848023 | |
| 1 7732619 445323 C T . . AF_ESP=0.00408;AF_EXAC=0.00133;AF_TGP=0.00260;ALLELEID=438595;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7732619C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147462930 | |
| 1 7736470 424141 G A . . ALLELEID=405238;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7736470G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064796821 | |
| 1 7736507 216897 A G . . ALLELEID=213522;CLNDISDB=MedGen:C3553661,OMIM:614756,Orphanet:ORPHA314647;CLNDN=Cerebellar_ataxia,_nonprogressive,_with_mental_retardation;CLNHGVS=NC_000001.11:g.7736507A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=32;RS=863224853 | |
| 1 7737443 128565 C G . . AF_ESP=0.09957;AF_EXAC=0.11667;AF_TGP=0.10044;ALLELEID=134014;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7737443C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9Y6Y1#VAR_047824;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41278952 | |
| 1 7738262 489158 G A . . ALLELEID=481601;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7738262G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=1553272873 | |
| 1 7744883 280426 C T . . ALLELEID=264023;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7744883C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=886041635 | |
| 1 7745021 285873 C T . . ALLELEID=270110;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7745021C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=886043243 | |
| 1 7745890 546584 G T . . ALLELEID=537073;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7745890G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553276957 | |
| 1 7751289 432176 C T . . ALLELEID=425383;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7751289C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553280067 | |
| 1 7752496 390487 C T . . ALLELEID=365416;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7752496C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057523792 | |
| 1 7752517 421997 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=405239;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7752517C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CAMTA1:23261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372954423 | |
| 1 7788124 252710 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=246891;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7788124G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PER3:8863;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=0;RS=549704202 | |
| 1 7809893 242410 C G . . AF_ESP=0.00284;AF_EXAC=0.00589;AF_TGP=0.00339;ALLELEID=226735;CLNDISDB=MedGen:C4225169,OMIM:616882;CLNDN=Advanced_sleep_phase_syndrome,_familial,_3;CLNHGVS=NC_000001.11:g.7809893C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:603427.0001;GENEINFO=PER3:8863;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150812083;CLNDISDBINCL=MedGen:C4225169,OMIM:616882;CLNDNINCL=Advanced_sleep_phase_syndrome,_familial,_3;CLNSIGINCL=224889:Pathogenic | |
| 1 7809900 242411 A G . . AF_ESP=0.00308;AF_EXAC=0.00588;AF_TGP=0.00339;ALLELEID=226734;CLNDISDB=MedGen:C4225169,OMIM:616882;CLNDN=Advanced_sleep_phase_syndrome,_familial,_3;CLNHGVS=NC_000001.11:g.7809900A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:603427.0001;GENEINFO=PER3:8863;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139315125;CLNDISDBINCL=MedGen:C4225169,OMIM:616882;CLNDNINCL=Advanced_sleep_phase_syndrome,_familial,_3;CLNSIGINCL=224889:Pathogenic | |
| 1 7938763 252590 C T . . AF_ESP=0.00300;AF_EXAC=0.00357;AF_TGP=0.00160;ALLELEID=246892;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.7938763C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07011#VAR_018920;GENEINFO=TNFRSF9:3604;MC=SO:0001583|missense_variant;ORIGIN=0;RS=9657963 | |
| 1 7961680 298111 G A . . AF_TGP=0.17652;ALLELEID=283314;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961680G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:130;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=17523802 | |
| 1 7961690 298112 G C . . AF_TGP=0.00020;ALLELEID=283113;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961690G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:602925;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=557801400 | |
| 1 7961718 298113 T C . . AF_TGP=0.63738;ALLELEID=283315;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961718T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:113;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=226249 | |
| 1 7961737 298114 T A . . AF_TGP=0.00060;ALLELEID=281869;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961737T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:637340;GENEINFO=PARK7:11315;MC=SO:0001575|splice_donor_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=140230911 | |
| 1 7961747 298115 C T . . AF_TGP=0.05391;ALLELEID=283316;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961747C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:109064;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=11121064 | |
| 1 7961787 298116 G C . . ALLELEID=281251;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7961787G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:775322;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886046544 | |
| 1 7961850 487088 G GGTGCTGGACGGTGTCCCT . . AF_TGP=0.09285;ALLELEID=75266;CLNHGVS=NC_000001.11:g.7961868_7961885dup;CLNREVSTAT=no_interpretation_for_the_single_variant;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:602533.0006;GENEINFO=PARK7:11315;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200968609;CLNDISDBINCL=MedGen:C1853445,OMIM:606324;CLNDNINCL=Parkinson_disease_7;CLNSIGINCL=446717:Pathogenic | |
| 1 7962764 298117 C T . . AF_ESP=0.03691;AF_EXAC=0.01164;AF_TGP=0.04393;ALLELEID=283115;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7962764C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:109087;GENEINFO=PARK7:11315;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=11548933 | |
| 1 7962844 298118 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=281253;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7962844T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:277420;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370430693 | |
| 1 7962858 298119 G A . . AF_EXAC=0.00002;ALLELEID=283116;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7962858G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:757475;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781346135 | |
| 1 7962863 7065 G A . . ALLELEID=22104;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7962863G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0003|UniProtKB_(protein):Q99497#VAR_020492;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315351 | |
| 1 7965320 534230 G A . . ALLELEID=516087;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7965320G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PARK7:11315;MC=SO:0001627|intron_variant;ORIGIN=1;RS=756040385 | |
| 1 7965336 573287 G GT . . ALLELEID=557376;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7965338dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PARK7:11315;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 7965348 7069 G T . . ALLELEID=22108;CLNDISDB=MedGen:C2751533;CLNDN=Parkinson_disease,_autosomal_recessive_early-onset,_digenic,_PINK1/DJ1;CLNHGVS=NC_000001.11:g.7965348G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0007|UniProtKB_(protein):Q99497#VAR_072589;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137853051 | |
| 1 7965421 447914 AAG A . . ALLELEID=440521;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.7965424_7965425delAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PARK7:11315;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553122929 | |
| 1 7965425 7067 G C . . ALLELEID=22106;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7965425G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0005|UniProtKB_(protein):Q99497#VAR_020493;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315353 | |
| 1 7969375 298120 G A . . ALLELEID=283317;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7969375G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:704194;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046545 | |
| 1 7969386 298121 C T . . AF_ESP=0.03614;AF_EXAC=0.01082;AF_TGP=0.03215;ALLELEID=283121;CLNDISDB=MedGen:C1853445,OMIM:606324|MedGen:CN239372|MedGen:CN517202;CLNDN=Parkinson_disease_7|Parkinson_Disease,_Recessive|not_provided;CLNHGVS=NC_000001.11:g.7969386C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:255820;GENEINFO=PARK7:11315;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11548937 | |
| 1 7970934 465831 G A . . AF_ESP=0.00807;AF_EXAC=0.00815;AF_TGP=0.00619;ALLELEID=448380;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7970934G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=71653619 | |
| 1 7977638 298122 A G . . AF_ESP=0.05843;AF_EXAC=0.01729;AF_TGP=0.05891;ALLELEID=281870;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7977638A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:546092;GENEINFO=PARK7:11315;MC=SO:0001627|intron_variant;ORIGIN=1;RS=72854882 | |
| 1 7977728 96726 G C . . ALLELEID=102612;CLNDISDB=MedGen:C3160718,OMIM:168600,SNOMED_CT:49049000;CLNDN=Parkinson_disease,_late-onset;CLNHGVS=NC_000001.11:g.7977728G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;RS=398124657 | |
| 1 7984930 7066 A C . . AF_EXAC=0.00020;AF_TGP=0.00100;ALLELEID=22105;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7984930A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0004|UniProtKB_(protein):Q99497#VAR_020496;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315352 | |
| 1 7984932 577231 G A . . ALLELEID=557378;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7984932G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 7984971 487089 G A . . AF_EXAC=0.00002;ALLELEID=22107;CLNHGVS=NC_000001.11:g.7984971G>A;CLNREVSTAT=no_interpretation_for_the_single_variant;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0006|UniProtKB_(protein):Q99497#VAR_034801;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315354;CLNDISDBINCL=MedGen:C1853445,OMIM:606324;CLNDNINCL=Parkinson_disease_7;CLNSIGINCL=446717:Pathogenic | |
| 1 7984981 7064 T C . . ALLELEID=22103;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7984981T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602533.0002|UniProtKB_(protein):Q99497#VAR_020498;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28938172 | |
| 1 7984984 298123 C G . . ALLELEID=283318;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7984984C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:823641;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886046546 | |
| 1 7984995 582678 G T . . ALLELEID=558597;CLNDISDB=MedGen:C1853445,OMIM:606324;CLNDN=Parkinson_disease_7;CLNHGVS=NC_000001.11:g.7984995G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PARK7:11315;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 7985179 298124 G A . . ALLELEID=283319;CLNDISDB=MedGen:CN239372;CLNDN=Parkinson_Disease,_Recessive;CLNHGVS=NC_000001.11:g.7985179G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:758639;GENEINFO=PARK7:11315;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=779587926 | |
| 1 8325853 428599 C T . . AF_EXAC=0.00002;ALLELEID=420285;CLNDISDB=MedGen:C4479636,OMIM:617532;CLNDN=INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_NEUROPSYCHIATRIC_FEATURES;CLNHGVS=NC_000001.11:g.8325853C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605763.0002;GENEINFO=SLC45A1:50651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781036625 | |
| 1 8325956 428598 C T . . AF_ESP=0.00015;AF_EXAC=0.00015;ALLELEID=420284;CLNDISDB=MedGen:C4479636,OMIM:617532;CLNDN=INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_NEUROPSYCHIATRIC_FEATURES;CLNHGVS=NC_000001.11:g.8325956C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605763.0001;GENEINFO=SLC45A1:50651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150539474 | |
| 1 8330643 451752 G T . . AF_ESP=0.00054;AF_TGP=0.00020;ALLELEID=442889;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8330643G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC45A1:50651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137918218 | |
| 1 8330941 493020 C G . . ALLELEID=485983;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8330941C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC45A1:50651;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1553150797 | |
| 1 8343990 451751 C T . . AF_EXAC=0.00010;ALLELEID=442890;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8343990C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC45A1:50651;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766999940 | |
| 1 8355536 452752 A T . . ALLELEID=442891;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8355536A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553153669 | |
| 1 8355557 521764 G A . . ALLELEID=511297;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8355557G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553153672 | |
| 1 8356195 391564 T C . . ALLELEID=365413;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8356195T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524139 | |
| 1 8358216 562007 T C . . ALLELEID=553144;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8358216T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 8358216 418456 T TGGTGGA . . ALLELEID=405245;CLNDISDB=MedGen:C4310772,OMIM:616975|MedGen:CN517202;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided;CLNHGVS=NC_000001.11:g.8358217_8358222dupGGTGGA;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RERE:473;ORIGIN=33;RS=1064793252 | |
| 1 8358230 545041 G C . . ALLELEID=535295;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8358230G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751232315 | |
| 1 8358231 452391 T A . . ALLELEID=442892;CLNDISDB=MedGen:C4310772,OMIM:616975|MedGen:CN517202;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided;CLNHGVS=NC_000001.11:g.8358231T>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1553154130 | |
| 1 8358231 522858 T C . . ALLELEID=513409;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8358231T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Undiagnosed_Diseases_Network,NIH:9b35bc79-4c94-4cb0-a7c3-a07176f5f59e_1;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1553154130 | |
| 1 8358232 562005 G A . . ALLELEID=553145;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8358232G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 8358235 562004 A G . . ALLELEID=553146;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8358235A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 8358238 521311 G C . . ALLELEID=511298;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8358238G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553154132 | |
| 1 8358242 224822 G T . . ALLELEID=226644;CLNDISDB=MedGen:C4310772,OMIM:616975|MedGen:CN235864|MedGen:CN517202;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|Cerebral_visual_impairment_and_intellectual_disability|not_provided;CLNHGVS=NC_000001.11:g.8358242G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605226.0003|UniProtKB_(protein):Q9P2R6#VAR_077010;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=33;RS=869312871 | |
| 1 8358249 379827 T C . . ALLELEID=365424;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8358249T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057520747 | |
| 1 8358595 591615 TCTCCCGCTCTCGGATCTCCCGCTCCCGGAG T . . ALLELEID=582604;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8358596_8358625del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=RERE:473;ORIGIN=1 | |
| 1 8358750 236217 G C . . ALLELEID=237785;CLNDISDB=MedGen:C4310772,OMIM:616975|MedGen:CN517202;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided;CLNHGVS=NC_000001.11:g.8358750G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605226.0002|UniProtKB_(protein):Q9P2R6#VAR_077009;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=878853270 | |
| 1 8358768 422354 A G . . ALLELEID=405246;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8358768A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064795726 | |
| 1 8359808 591204 G GCTCCCGCTCCCGCTCCTT . . ALLELEID=582198;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8359808_8359809insCTCCCGCTCCCGCTCCTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=RERE:473;ORIGIN=1 | |
| 1 8359846 521657 C A . . ALLELEID=511299;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8359846C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150925051 | |
| 1 8359916 236216 C T . . AF_EXAC=0.00002;ALLELEID=237784;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8359916C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605226.0001|UniProtKB_(protein):Q9P2R6#VAR_077008;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766951273 | |
| 1 8360005 445470 C A . . AF_ESP=0.00062;AF_EXAC=0.00024;AF_TGP=0.00020;ALLELEID=438742;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8360005C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200719277 | |
| 1 8360161 587517 G T . . ALLELEID=578385;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8360161G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=4 | |
| 1 8360215 562006 G C . . ALLELEID=553147;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8360215G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32 | |
| 1 8360242 521884 G C . . ALLELEID=511300;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8360242G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1259871272 | |
| 1 8360259 445388 C A . . AF_ESP=0.00016;AF_EXAC=0.00004;ALLELEID=438660;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8360259C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370962200 | |
| 1 8360361 235329 G A . . ALLELEID=237016;CLNDISDB=MedGen:C4310772,OMIM:616975|MedGen:CN517202;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided;CLNHGVS=NC_000001.11:g.8360361G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32;RS=878853011 | |
| 1 8360443 445630 G C . . AF_ESP=0.00210;AF_TGP=0.00799;ALLELEID=438902;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8360443G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202121539 | |
| 1 8360467 562387 G GC . . ALLELEID=553571;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8360467_8360468insC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=1 | |
| 1 8360947 521778 G A . . ALLELEID=511301;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8360947G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1035063066 | |
| 1 8361045 373226 G A . . ALLELEID=359325;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8361045G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057518295 | |
| 1 8361046 429260 A G . . ALLELEID=421256;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8361046A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=897627996 | |
| 1 8361220 450649 TG T . . ALLELEID=442893;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8361221delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553155576 | |
| 1 8361235 451536 T TCC . . ALLELEID=442894;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8361236_8361237dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553155581 | |
| 1 8361236 236219 C CCCTGGAGGAGCTGAGGAGGGAG . . ALLELEID=237787;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8361237_8361258dup;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:605226.0004;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853252 | |
| 1 8361815 377206 G A . . AF_ESP=0.00023;AF_EXAC=0.00031;AF_TGP=0.00020;ALLELEID=364084;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8361815G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149900041 | |
| 1 8361858 520976 AG A . . ALLELEID=511302;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8361859delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553155778 | |
| 1 8364108 521295 T C . . ALLELEID=511303;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000001.11:g.8364108T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886196440 | |
| 1 8364139 429613 G T . . ALLELEID=421257;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8364139G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691493 | |
| 1 8364178 591072 C A . . ALLELEID=582066;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8364178C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 8365946 591040 C A . . ALLELEID=582034;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8365946C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 8365947 591867 A G . . ALLELEID=582856;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8365947A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1 | |
| 1 8495151 450901 G A . . ALLELEID=442895;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8495151G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=992236684 | |
| 1 8508607 445602 G A . . AF_ESP=0.01130;AF_EXAC=0.00285;AF_TGP=0.00978;ALLELEID=438874;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8508607G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77037803 | |
| 1 8656049 562003 C CT . . ALLELEID=553148;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8656050dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RERE:473;MC=SO:0001589|frameshift_variant;ORIGIN=32 | |
| 1 8656119 426478 T C . . ALLELEID=414811;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.8656119T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1085307646 | |
| 1 8656232 591115 C CTCTCGGTCCCGG . . ALLELEID=582109;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8656232_8656233insTCTCGGTCCCGG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=RERE:473;ORIGIN=1 | |
| 1 8656247 377359 T TCGGTCC . . AF_ESP=0.00591;AF_EXAC=0.00633;AF_TGP=0.00339;ALLELEID=364237;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.8656247_8656248insCGGTCC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=RERE:473;ORIGIN=1;RS=201665914 | |
| 1 8656284 545588 T C . . ALLELEID=536089;CLNDISDB=MedGen:C4310772,OMIM:616975;CLNDN=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart;CLNHGVS=NC_000001.11:g.8656284T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RERE:473;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1553128615 | |
| 1 9039877 207859 G A . . AF_EXAC=0.00002;ALLELEID=204085;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNDN=Long_QT_syndrome;CLNHGVS=NC_000001.11:g.9039877G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=association;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC2A5:6518;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779760381 | |
| 1 9244919 402919 CCCCAGGCA C . . ALLELEID=389428;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.9244928_9244935delCCCAGGCA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=H6PD:9563;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=139855605 | |
| 1 9245257 31587 AC A . . ALLELEID=40271;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9245259delC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:138090.0006;GENEINFO=H6PD:9563;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122818 | |
| 1 9247171 191261 T A . . AF_TGP=0.25080;ALLELEID=189064;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.9247171T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=H6PD:9563;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12032814 | |
| 1 9262261 31586 C G . . AF_EXAC=0.00003;ALLELEID=40270;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9262261C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:138090.0005;GENEINFO=H6PD:9563;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122817 | |
| 1 9262273 31584 G A . . ALLELEID=40268;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9262273G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:138090.0003;GENEINFO=H6PD:9563;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=398122816 | |
| 1 9263569 31585 G A . . AF_EXAC=0.00002;ALLELEID=40269;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9263569G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:138090.0004;GENEINFO=H6PD:9563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=387907167 | |
| 1 9263851 16131 G A . . AF_TGP=0.38958;ALLELEID=31170;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9263851G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:138090.0002|UniProtKB_(protein):O95479#VAR_026487;GENEINFO=H6PD:9563;MC=SO:0001583|missense_variant;ORIGIN=1;RS=6688832 | |
| 1 9264353 16130 C CACAGGTGGTTGACCTGTGGCCGGGTCTGA . . AF_EXAC=0.00001;ALLELEID=31169;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNDN=Cortisone_reductase_deficiency_1;CLNHGVS=NC_000001.11:g.9264353_9264354insACAGGTGGTTGACCTGTGGCCGGGTCTGA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=OMIM_Allelic_Variant:138090.0001;GENEINFO=H6PD:9563;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=606231222 | |
| 1 9715580 393174 A G . . ALLELEID=365266;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000001.11:g.9715580A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CD:5293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524823 | |
| 1 9715630 618791 G A . . ALLELEID=609439;CLNDISDB=MedGen:CN517202;CLNHGVS=NC_000001.11:g.9715630G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:164534;GENEINFO=PIK3CD:5293;ORIGIN=1;RS=756139699 | |
| 1 9715634 541084 CAG C . . ALLELEID=516246;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNDN=Immunodeficiency_14;CLNHGVS=NC_000001.11:g.9715635_9715636del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PIK3CD:5293;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553168726 | |
| 1 9715844 541089 C T . . AF_ESP=0.00031;AF_TGP=0.00060;ALLELEID=516096;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNDN=Immunodeficiency_14;CLNHGVS=NC_000001.11:g.9715844C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CD:5293;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149617980 | |
| 1 9715845 541090 G A . . ALLELEID=516138;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNDN=Immunodeficiency_14;CLNHGVS=NC_000001.11:g.9715845G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CD:5293;MC=SO:0001627|intron_variant;ORIGIN=1;RS=775036315 | |
| 1 9715846 474030 C T . . AF_ESP=0.02112;AF_EXAC=0.00501;AF_TGP=0.01697;ALLELEID=448257;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNDN=Immunodeficiency_14;CLNHGVS=NC_000001.11:g.9715846C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CD:5293;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113176101 | |
| 1 9715914 474031 T A . . AF_ESP=0.00069;AF_EXAC=0.00145;AF_TGP=0.00060;ALLELEID=448464;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNDN=Immunodeficiency_14;CLNHGVS=NC_000001.11:g.9715914T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CD:5293;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142285826 | |
| 1 9716472 474032 C T . . AF_EXAC=0.00006;ALLELE |
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As noted in the question, you only need the first 50 lines or so of the file, as it contains the complete header.
In the full (42MB) file, I changed line 28 to begin with a
#character, as per this comment, so that the file is now valid VCF. I didn't change the 50-line snippet because the OP's code and the highest-voted answer both depend on it's not being there. Unfortunately, this makes the question/answer not very portable.