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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7058023inversion1nstd229human GRCh38 chr2: 70,984,842-71,331,695 , GRCh37.p13 chr2: 71,260,430-71,558,825 TRE-CTC15-1, MCEE, 11 more genes
    nsv7043199inversion1nstd229human GRCh38 chr2: 70,623,217-71,162,741 , GRCh37.p13 chr2|NW_004504299.1: 189,499-599,580 , GRCh37.p13 chr2: 70,850,349-71,260,429 LOC105374796, MCEE, 22 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628135copy number variation1nstd224human GRCh37 chr2: 71,311,643-71,409,350 , GRCh38.p12 chr2: 71,084,513-71,182,220 MPHOSPH10, MCEE, 1 more genes
    nsv6549348inversion1nstd223human GRCh38 chr2: 71,135,304-71,136,001 , GRCh37.p13 chr2: 71,362,434-71,363,131 MPHOSPH10
    nsv6540618inversion1nstd223human GRCh38 chr2: 70,984,841-71,331,694 , GRCh37.p13 chr2: 71,260,430-71,558,824 ANKRD53, OR7E62P, 11 more genes
    nsv6355304copy number variation1nstd223human GRCh38 chr2: 71,112,101-71,139,100 , GRCh37.p13 chr2: 71,339,231-71,366,230 MCEE, MPHOSPH10
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315247copy number variation1nstd102humanUncertain significance GRCh38 chr2: 69,512,973-71,153,026 , GRCh37.p13 chr2: 69,740,105-71,380,156 TIA1, SNRPG, 52 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6311427copy number variation1nstd102humanUncertain significance GRCh37 chr2: 71,337,100-71,357,349 , GRCh38.p12 chr2: 71,109,970-71,130,219 MCEE, MPHOSPH10
    nsv6307525insertion1nstd186human GRCh37 chr2: 71,368,240-71,368,243 , GRCh38.p12 chr2: 71,141,110-71,141,113 MPHOSPH10
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv6134363copy number variation1nstd213human GRCh37 chr2: 71,370,000-71,440,001 , GRCh38.p12 chr2: 71,142,870-71,212,871 MPHOSPH10, PAIP2B
    nsv6051670insertion1nstd212human GRCh38 chr2: 71,137,268-71,137,268 , GRCh37.p13 chr2: 71,364,398-71,364,398 MPHOSPH10
    nsv5990254copy number variation1nstd212human GRCh38 chr2: 71,086,325-71,193,832 , GRCh37.p13 chr2: 71,313,455-71,420,962 MPHOSPH10, MCEE, 1 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
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