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Items: 1 to 20 of 282

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7045959inversion1nstd229human GRCh38 chr2: 60,077,865-60,933,637 , GRCh37.p13 chr2: 60,305,000-61,160,772 RN7SL632P, IFITM3P9, 14 more genes
    nsv7044192inversion1nstd229human GRCh38 chr2: 57,467,952-62,408,360 , GRCh37.p13 chr2: 57,695,087-62,635,495 RNA5SP94, PUS10, 62 more genes
    nsv6673764copy number variation1nstd229human GRCh38 chr2: 60,758,694-60,758,787 , GRCh37.p13 chr2: 60,985,829-60,985,922 PAPOLG
    nsv6667735copy number variation1nstd229human GRCh38 chr2: 60,667,501-60,812,000 , GRCh37.p13 chr2: 60,894,636-61,039,135 RPL26P13, IFITM3P9, 3 more genes
    nsv6636773copy number variation1nstd102humanUncertain significance GRCh37 chr2: 60,984,521-61,104,424 , GRCh38.p12 chr2: 60,757,386-60,877,289 RPL21P33, REL-DT, 2 more genes
    nsv6636194copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 60,680,467-61,527,143 , GRCh38.p12 chr2: 60,453,332-61,300,008 ATP1B3P1, PEX13, 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
    nsv6554409inversion1nstd223human GRCh38 chr2: 60,758,602-60,759,250 , GRCh37.p13 chr2: 60,985,737-60,986,385 PAPOLG
    nsv6549055inversion1nstd223human GRCh38 chr2: 60,754,681-60,754,802 , GRCh37.p13 chr2: 60,981,816-60,981,937 PAPOLG
    nsv6548329inversion1nstd223human GRCh38 chr2: 60,772,302-60,773,046 , GRCh37.p13 chr2: 60,999,437-61,000,181 PAPOLG
    nsv6538672inversion1nstd223human GRCh38 chr2: 60,758,575-60,759,175 , GRCh37.p13 chr2: 60,985,710-60,986,310 PAPOLG
    nsv6536050inversion1nstd223human GRCh38 chr2: 60,780,423-60,781,330 , GRCh37.p13 chr2: 61,007,558-61,008,465 PAPOLG
    nsv6353180copy number variation1nstd223human GRCh38 chr2: 60,799,910-60,801,647 , GRCh37.p13 chr2: 61,027,045-61,028,782 PAPOLG
    nsv6344554copy number variation1nstd223human GRCh38 chr2: 60,763,678-60,876,163 , GRCh37.p13 chr2: 60,990,813-61,103,298 REL-DT, RPL21P33, 2 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 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
    nsv6300571copy number variation1nstd186human GRCh37 chr2: 60,985,829-60,985,922 , GRCh38.p12 chr2: 60,758,694-60,758,787 PAPOLG
    nsv6300236copy number variation1nstd186human GRCh37 chr2: 60,986,680-60,986,753 , GRCh38.p12 chr2: 60,759,545-60,759,618 PAPOLG
    nsv6156712copy number variation1nstd214human GRCh38 chr2: 60,770,325-60,770,402 , GRCh37.p13 chr2: 60,997,460-60,997,537 PAPOLG
    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
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