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Items: 1 to 20 of 540

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145731copy number variation1nstd232human GRCh37.p13 chr12: 133,306,920-133,306,982 , GRCh38.p12 chr12: 132,730,334-132,730,396 ANKLE2
    nsv7145427insertion1nstd232human GRCh37.p13 chr12: 133,304,125-133,304,125 , GRCh38.p12 chr12: 132,727,539-132,727,539 ANKLE2
    nsv7145079copy number variation1nstd232human GRCh37.p13 chr12: 133,308,738-133,308,813 , GRCh38.p12 chr12: 132,732,152-132,732,227 ANKLE2
    nsv7144183insertion1nstd232human GRCh37.p13 chr12: 133,313,652-133,313,652 , GRCh38.p12 chr12: 132,737,066-132,737,066 ANKLE2
    nsv7141763copy number variation1nstd232human GRCh37.p13 chr12: 133,306,960-133,307,008 , GRCh38.p12 chr12: 132,730,374-132,730,422 ANKLE2
    nsv7098950delins1nstd102humanPathogenic GRCh37 chr12: 133,304,604-133,309,270 , GRCh38 chr12: 132,728,018-132,732,684 ANKLE2
    nsv7074199inversion1nstd229human GRCh38 chr12: 123,186,434-132,825,682 , GRCh37.p13 chr12: 123,670,981-133,402,268 PIWIL1, FZD10-AS1, 187 more genes
    nsv7067298inversion1nstd229human GRCh38 chr12: 132,079,777-132,851,356 , GRCh37.p13 chr12: 132,564,322-133,427,942 LRCOL1, PGAM5, 26 more genes
    nsv6936532copy number variation1nstd229human GRCh38 chr12: 132,751,824-132,756,103 , GRCh37.p13 chr12: 133,328,410-133,332,689 ANKLE2
    nsv6936197copy number variation1nstd229human GRCh38 chr12: 132,513,673-132,826,503 , GRCh37.p13 chr12: 133,090,259-133,403,089 RNA5SP379, ANKLE2, 11 more genes
    nsv6934654copy number variation1nstd229human GRCh38 chr12: 132,501,807-133,106,378 , GRCh37.p13 chr12: 133,078,393-133,682,964 ZNF605, LRCOL1, 23 more genes
    nsv6932930copy number variation1nstd229human GRCh38 chr12: 132,712,888-132,769,773 , GRCh37.p13 chr12: 133,289,474-133,346,359 RNA5SP379, ANKLE2, 3 more genes
    nsv6929998copy number variation1nstd229human GRCh38 chr12: 132,729,863-132,737,081 , GRCh37.p13 chr12: 133,306,449-133,313,667 ANKLE2
    nsv6929787copy number variation1nstd229human GRCh38 chr12: 132,759,115-132,769,937 , GRCh37.p13 chr12: 133,335,701-133,346,523 GOLGA3, ANKLE2
    nsv6929234copy number variation1nstd229human GRCh38 chr12: 132,750,884-132,751,012 , GRCh37.p13 chr12: 133,327,470-133,327,598 ANKLE2
    nsv6928158copy number variation1nstd229human GRCh38 chr12: 132,715,823-132,868,547 , GRCh37.p13 chr12: 133,292,409-133,445,133 GOLGA3, PGAM5, 6 more genes
    nsv6927092copy number variation1nstd229human GRCh38 chr12: 132,732,494-132,766,377 , GRCh37.p13 chr12: 133,309,080-133,342,963 ANKLE2, LOC100419935
    nsv6920131copy number variation1nstd229human GRCh38 chr12: 132,719,848-132,999,769 , GRCh37.p13 chr12: 133,296,434-133,576,355 RNU4ATAC12P, ZNF26, 12 more genes
    nsv6920107copy number variation1nstd229human GRCh38 chr12: 132,748,662-132,752,017 , GRCh37.p13 chr12: 133,325,248-133,328,603 ANKLE2
    nsv6637772copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,228,857-133,455,925 , GRCh38.p12 chr12: 132,652,271-132,879,339 PGAM5, ANKLE2, 8 more genes
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