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Items: 1 to 20 of 95

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 more genes
    nsv5678065mobile element insertion2nstd211human GRCh38 chr2: 85,545,727-85,545,727 , GRCh37.p13 chr2: 85,772,850-85,772,850 GGCX, MAT2A
    nsv5613225insertion1nstd207human GRCh38 chr2: 85,545,712-85,545,712 , GRCh37.p13 chr2: 85,772,835-85,772,835 GGCX, MAT2A
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5436982copy number variation1nstd206human GRCh38 chr2: 85,539,948-89,142,574 , GRCh37.p13 chr2: 85,767,071-89,442,057 , IGKV2-18, 129 more genes
    nsv5405454mobile element insertion1nstd206human GRCh38 chr2: 85,545,727-85,545,778 , GRCh37.p13 chr2: 85,772,850-85,772,901 GGCX, MAT2A
    nsv5065758mobile element insertion1nstd203human GRCh38 chr2: 85,545,712-85,545,727 , GRCh37.p13 chr2: 85,772,835-85,772,850 MAT2A, GGCX
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4719005insertion1nstd186human GRCh37 chr2: 85,772,835-85,772,835 , GRCh38.p12 chr2: 85,545,712-85,545,712 MAT2A, GGCX
    nsv4691770mobile element insertion1nstd186human GRCh37 chr2: 85,772,850-85,772,850 , GRCh38.p12 chr2: 85,545,727-85,545,727 MAT2A, GGCX
    nsv4595820copy number variation1nstd183human GRCh37 chr2: 85,505,867-85,911,446 , GRCh38.p12 chr2: 85,278,744-85,684,323 , RN7SL251P, 23 more genes
    nsv4586729copy number variation1nstd183human GRCh37 chr2: 85,766,690-85,766,956 , GRCh38.p12 chr2: 85,539,567-85,539,833 MAT2A
    nsv4584593copy number variation1nstd183human GRCh37 chr2: 85,508,825-85,911,677 , GRCh38.p12 chr2: 85,281,702-85,684,554 , USP39, 24 more genes
    nsv4584242copy number variation1nstd183human GRCh37 chr2: 85,766,453-85,766,735 , GRCh38.p12 chr2: 85,539,330-85,539,612 MAT2A, PARTICL
    nsv4584241copy number variation1nstd183human GRCh37 chr2: 85,759,112-85,768,536 , GRCh38.p12 chr2: 85,531,989-85,541,413 MAT2A, PARTICL
    nsv4534085insertion1nstd166human GRCh37.p13 chr2: 85,772,835-85,772,835 , GRCh38.p12 chr2: 85,545,712-85,545,712 GGCX, MAT2A
    nsv4451607copy number variation1nstd102humanPathogenic GRCh37 chr2: 77,907,114-87,330,965 , GRCh38.p12 chr2: 77,679,988-87,103,842 REEP1, RBX1P1, 134 more genes
    nsv4056069copy number variation1nstd166human GRCh37.p13 chr2: 85,764,875-85,764,968 , GRCh38.p12 chr2: 85,537,752-85,537,845 PARTICL, MAT2A
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
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