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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5133419mobile element insertion1nstd203human GRCh38 chr12: 50,091,763-50,091,785 , GRCh37.p13 chr12: 50,485,546-50,485,568 SMARCD1
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4985579copy number variation1nstd200human GRCh38 chr12: 50,050,988-50,118,510 , GRCh37.p13 chr12: 50,444,771-50,512,293 SMARCD1, ASIC1, 2 more genes
    nsv4972600copy number variation1nstd200human GRCh38 chr12: 50,091,866-50,092,466 , GRCh37.p13 chr12: 50,485,649-50,486,249 SMARCD1
    nsv4838170copy number variation1nstd200human GRCh37 chr12: 50,444,771-50,512,293 , GRCh38.p12 chr12: 50,050,988-50,118,510 SMARCD1, GPD1, 2 more genes
    nsv4775079mobile element deletion1nstd200human GRCh37 chr12: 50,494,949-50,495,246 , GRCh38.p12 chr12: 50,101,166-50,101,463 SMARCD1
    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
    nsv4501776mobile element insertion1nstd166human GRCh37.p13 chr12: 50,493,422-50,493,422 , GRCh38.p12 chr12: 50,099,639-50,099,639 SMARCD1
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3922260copy number variation1nstd102humanUncertain significance NCBI36 chr12: 48,520,125-48,995,258 , GRCh38 chr12: 49,840,075-50,315,208 , GRCh37 chr12: 50,233,858-50,708,991 CERS5, LINC02395, 21 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
    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
    nsv3169098inversion1nstd158human GRCh37 chr12: 28,095,967-121,612,723 , GRCh38.p12 chr12: 27,943,034-121,174,920 , ACACB, 1642 more genes
    nsv3169084inversion1nstd158human GRCh37 chr12: 25,261,327-66,452,514 , GRCh38.p12 chr12: 25,108,393-66,058,734 , ASIC1, 835 more genes
    nsv3168746inversion1nstd158human GRCh37 chr12: 2,444,756-66,452,522 , GRCh38.p12 chr12: 2,335,590-66,058,742 , A2M, 1361 more genes
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