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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5947471copy number variation1nstd209human GRCh38 chr12: 49,003,004-49,003,140 , GRCh37.p13 chr12: 49,396,787-49,396,923 PRKAG1, DDN-AS1
    nsv5946003copy number variation1nstd209human GRCh38 chr12: 49,003,922-49,004,505 , GRCh37.p13 chr12: 49,397,705-49,398,288 PRKAG1, DDN-AS1
    nsv5943880copy number variation1nstd209human GRCh38 chr12: 49,005,363-49,005,459 , GRCh37.p13 chr12: 49,399,146-49,399,242 PRKAG1, DDN-AS1
    nsv5938191copy number variation1nstd209human GRCh38 chr12: 49,003,594-49,003,754 , GRCh37.p13 chr12: 49,397,377-49,397,537 DDN-AS1, PRKAG1
    nsv5937352copy number variation1nstd209human GRCh38 chr12: 49,005,162-49,005,301 , GRCh37.p13 chr12: 49,398,945-49,399,084 DDN-AS1, PRKAG1
    nsv5933204copy number variation1nstd209human GRCh38 chr12: 49,004,633-49,004,962 , GRCh37.p13 chr12: 49,398,416-49,398,745 PRKAG1, DDN-AS1
    nsv5727918mobile element insertion1nstd211human GRCh38 chr12: 49,007,561-49,007,561 , GRCh37.p13 chr12: 49,401,344-49,401,344 PRKAG1, DDN-AS1
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5558494mobile element insertion1nstd206human GRCh38 chr12: 49,007,574-49,007,612 , GRCh37.p13 chr12: 49,401,357-49,401,395 DDN-AS1, PRKAG1
    nsv5496611copy number variation1nstd206human GRCh38 chr12: 49,003,706-49,004,506 , GRCh37.p13 chr12: 49,397,489-49,398,289 DDN-AS1, PRKAG1
    nsv5494054copy number variation1nstd206human GRCh38 chr12: 49,004,636-49,004,913 , GRCh37.p13 chr12: 49,398,419-49,398,696 DDN-AS1, PRKAG1
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972545copy number variation1nstd200human GRCh38 chr12: 49,009,320-49,010,023 , GRCh37.p13 chr12: 49,403,103-49,403,806 PRKAG1, DDN-AS1
    nsv4831097copy number variation1nstd200human GRCh37 chr12: 49,403,103-49,403,806 , GRCh38.p12 chr12: 49,009,320-49,010,023 DDN-AS1, PRKAG1
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 SPATS2, SPMIP11, 62 more genes
    nsv4604401copy number variation1nstd183human GRCh37 chr12: 49,412,532-49,414,224 , GRCh38.p12 chr12: 49,018,749-49,020,441 PRKAG1, KMT2D, 1 more genes
    nsv4600712copy number variation1nstd183human GRCh37 chr12: 49,411,403-49,412,813 , GRCh38.p12 chr12: 49,017,620-49,019,030 KMT2D, PRKAG1, 1 more genes
    nsv4578649copy number variation1nstd102humanPathogenic GRCh37 chr12: 49,034,325-49,468,966 , GRCh38.p12 chr12: 48,640,542-49,075,183 WNT1, SPMIP11, 29 more genes
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