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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5940356copy number variation1nstd209human GRCh38 chr12: 49,764,841-49,764,897 , GRCh37.p13 chr12: 50,158,624-50,158,680 TMBIM6
    nsv5503745copy number variation1nstd206human GRCh38 chr12: 49,737,635-49,740,691 , GRCh37.p13 chr12: 50,131,418-50,134,474 TMBIM6
    nsv5355903translocation1nstd200human GRCh38 chr12: 49,740,691-49,740,691 , GRCh38 chr12: 49,737,635-49,737,635 , GRCh37.p13 chr12: 50,134,474-50,134,474 , GRCh37.p13 chr12: 50,131,418-50,131,418 TMBIM6
    nsv5133111mobile element insertion1nstd203human GRCh38 chr12: 49,756,602-49,756,633 , GRCh37.p13 chr12: 50,150,385-50,150,416 TMBIM6
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972590copy number variation1nstd200human GRCh38 chr12: 49,734,203-49,740,243 , GRCh37.p13 chr12: 50,127,986-50,134,026 TMBIM6
    nsv4840717copy number variation1nstd200human GRCh37 chr12: 50,127,986-50,134,026 , GRCh38.p12 chr12: 49,734,203-49,740,243 TMBIM6
    nsv4832272copy number variation1nstd200human GRCh37 chr12: 50,131,417-50,134,475 , GRCh38.p12 chr12: 49,737,634-49,740,692 TMBIM6
    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
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4207314copy number variation1nstd166human GRCh37.p13 chr12: 50,131,418-50,134,476 , GRCh38.p12 chr12: 49,737,635-49,740,693 TMBIM6
    nsv4195676copy number variation1nstd166human GRCh37.p13 chr12: 50,139,025-50,139,127 , GRCh38.p12 chr12: 49,745,242-49,745,344 TMBIM6
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 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
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
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