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Items: 1 to 20 of 110

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5944708copy number variation1nstd209human GRCh38 chr12: 49,175,628-49,184,058 , GRCh37.p13 chr12: 49,569,411-49,577,841 TUBA1A
    nsv5940686copy number variation1nstd209human GRCh38 chr12: 49,188,023-49,188,088 , GRCh37.p13 chr12: 49,581,806-49,581,871 TUBA1A
    nsv5866730copy number variation2nstd209human GRCh38 chr12: 49,182,981-49,184,315 , GRCh37.p13 chr12: 49,576,764-49,578,098 TUBA1A
    nsv5706863mobile element insertion2nstd211human GRCh38 chr12: 49,187,228-49,187,228 , GRCh37.p13 chr12: 49,581,011-49,581,011 TUBA1A
    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
    nsv5423494mobile element insertion1nstd206human GRCh38 chr12: 49,187,228-49,187,279 , GRCh37.p13 chr12: 49,581,011-49,581,062 TUBA1A
    nsv5278976copy number variation1nstd204human GRCh38.p13 chr12: 49,113,401-49,261,600 , GRCh37.p13 chr12: 49,507,184-49,655,383 TUBA1C, TUBA1B, 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
    nsv4972560copy number variation1nstd200human GRCh38 chr12: 49,175,630-49,184,059 , GRCh37.p13 chr12: 49,569,413-49,577,842 TUBA1A
    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
    nsv4600475copy number variation1nstd183human GRCh37 chr12: 49,579,884-49,580,094 , GRCh38.p12 chr12: 49,186,101-49,186,311 TUBA1A
    nsv4573547mobile element insertion1nstd166human GRCh37.p13 chr12: 49,577,797-49,577,797 , GRCh38.p12 chr12: 49,184,014-49,184,014 TUBA1A
    nsv4386064copy number variation1nstd173human GRCh37 chr12: 49,555,059-49,816,495 , GRCh38.p12 chr12: 49,161,276-49,422,712 TROAP, SPATS2, 7 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
    nsv4202281copy number variation1nstd166human GRCh37.p13 chr12: 49,569,413-49,577,842 , GRCh38.p12 chr12: 49,175,630-49,184,059 TUBA1A
    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
    nsv3905831copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,191,810-49,630,201 , GRCh38.p12 chr12: 48,798,027-49,236,418 TUBA1A, WNT1, 26 more genes
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