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Items: 1 to 20 of 108

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7063378inversion1nstd229human GRCh38 chr12: 50,912,523-51,136,937 , GRCh37.p13 chr12: 51,306,306-51,530,720 RPL35AP29, CSRNP2, 9 more genes
    nsv7059430inversion1nstd229human GRCh38 chr12: 50,917,961-51,167,647 , GRCh37.p13 chr12: 51,311,744-51,561,430 TMT1A, RPL35AP29, 10 more genes
    nsv6936856copy number variation1nstd229human GRCh38 chr12: 50,923,367-50,931,164 , GRCh37.p13 chr12: 51,317,150-51,324,947 TMT1A
    nsv6932873copy number variation1nstd229human GRCh38 chr12: 50,932,617-50,934,359 , GRCh37.p13 chr12: 51,326,400-51,328,142 TMT1A, HIGD1C
    nsv6930173copy number variation1nstd229human GRCh38 chr12: 50,820,901-51,598,500 , GRCh37.p13 chr12: 51,214,684-51,992,284 RN7SL519P, RNU6-87P, 23 more genes
    nsv6928651copy number variation1nstd229human GRCh38 chr12: 50,932,712-50,941,783 , GRCh37.p13 chr12: 51,326,495-51,335,566 TMT1A, HIGD1C
    nsv6469859copy number variation1nstd223human GRCh38 chr12: 50,927,086-50,927,856 , GRCh37.p13 chr12: 51,320,869-51,321,639 TMT1A
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132250copy number variation1nstd213human GRCh37 chr12: 49,440,000-51,850,001 , GRCh38.p12 chr12: 49,046,217-51,456,217 DAZAP2, KCNH3, 83 more genes
    nsv5556240sequence alteration1nstd206human GRCh38 chr12: 50,501,429-51,116,796 , GRCh37.p13 chr12: 50,895,212-51,510,579 ATF1, SLC11A2, 14 more genes
    nsv5123955mobile element insertion1nstd203human GRCh38 chr12: 50,926,016-50,926,039 , GRCh37.p13 chr12: 51,319,799-51,319,822 TMT1A
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972649copy number variation1nstd200human GRCh38 chr12: 50,932,617-50,934,359 , GRCh37.p13 chr12: 51,326,400-51,328,142 TMT1A, HIGD1C
    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
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4196622copy number variation1nstd166human GRCh37.p13 chr12: 51,317,807-51,318,300 , GRCh38.p12 chr12: 50,924,024-50,924,517 TMT1A
    nsv3924549copy number variation1nstd102humanPathogenic GRCh37 chr12: 51,027,671-53,245,693 , GRCh38 chr12: 50,633,888-52,851,909 , NCBI36 chr12: 49,313,938-51,531,960 KRT128P, KRT80, 82 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
    nsv3915145copy number variation1nstd102humanUncertain significance GRCh37 chr12: 50,993,987-51,347,169 , NCBI36 chr12: 49,280,254-49,633,436 , GRCh38 chr12: 50,600,204-50,953,386 RN7SL519P, TMPRSS12, 7 more genes
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