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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5596404copy number variation1nstd207human GRCh38 chr12: 53,498,953-53,499,003 , GRCh37.p13 chr12: 53,892,737-53,892,787 MAP3K12, TARBP2
    nsv5270949copy number variation1nstd204human GRCh38.p13 chr12: 53,492,201-53,505,700 , GRCh37.p13 chr12: 53,885,985-53,899,484 TARBP2, ATF7-NPFF, 2 more genes
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4745408copy number variation1nstd199human GRCh37 chr12: 53,892,720-53,892,777 , GRCh38.p12 chr12: 53,498,936-53,498,993 MAP3K12, TARBP2
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729204copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 53,614,278-53,971,802 , GRCh38.p12 chr12: 53,220,494-53,578,018 AMHR2, PCBP2, 18 more genes
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4445180copy number variation1nstd175human GRCh37 chr12: 53,892,692-53,892,742 , GRCh38.p12 chr12: 53,498,908-53,498,958 TARBP2, MAP3K12
    nsv4436658copy number variation1nstd102humanPathogenic GRCh37 chr12: 53,784,698-54,741,363 , GRCh38.p12 chr12: 53,390,914-54,347,579 , CALCOCO1, 53 more genes
    nsv4417792copy number variation1nstd174human GRCh37 chr12: 53,892,332-53,893,129 , GRCh38.p12 chr12: 53,498,548-53,499,345 TARBP2, MAP3K12
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4201557copy number variation1nstd166human GRCh37.p13 chr12: 53,892,500-53,897,500 , GRCh38.p12 chr12: 53,498,716-53,503,716 TARBP2, MAP3K12
    nsv3926289copy number variation1nstd167human GRCh37 chr12: 53,892,692-53,892,722 , GRCh38.p12 chr12: 53,498,908-53,498,938 TARBP2, MAP3K12
    nsv3924873copy number variation1nstd102humanPathogenic GRCh38 chr12: 53,224,024-54,222,450 , GRCh37 chr12: 53,617,808-54,616,234 , NCBI36 chr12: 51,904,075-52,902,501 , PFDN5, 51 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3917346copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 51,531,901-52,238,875 , GRCh37 chr12: 53,245,634-53,952,608 , GRCh38 chr12: 52,851,850-53,558,824 AMHR2, EIF4B, 35 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
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