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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098872copy number variation1nstd102humanUncertain significance GRCh37 chr2: 73,716,761-75,347,894 , GRCh38.p12 chr2: 73,489,634-75,120,768 RTKN, PCGF1, 61 more genes
    nsv7096907copy number variation2nstd102humanPathogenic GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634 RNU6-111P, LOC105374800, 71 more genes
    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
    nsv7048677inversion1nstd229human GRCh38 chr2: 73,637,270-73,666,655 , GRCh37.p13 chr2: 73,864,397-73,893,782 ALMS1P1, NAT8
    nsv6676533copy number variation1nstd229human GRCh38 chr2: 73,620,031-73,680,267 , GRCh37.p13 chr2: 73,847,158-73,907,394 NAT8, ALMS1P1
    nsv6670313copy number variation1nstd229human GRCh38 chr2: 73,624,401-73,686,300 , GRCh37.p13 chr2: 73,851,528-73,913,427 ALMS1P1, NAT8
    nsv6668858copy number variation1nstd229human GRCh38 chr2: 73,625,701-73,687,500 , GRCh37.p13 chr2: 73,852,828-73,914,627 ALMS1P1, NAT8
    nsv6668152copy number variation1nstd229human GRCh38 chr2: 73,565,679-73,665,460 , GRCh37.p13 chr2: 73,792,806-73,892,587 NAT8, ALMS1P1, 1 more genes
    nsv6667375copy number variation1nstd229human GRCh38 chr2: 73,625,854-73,686,194 , GRCh37.p13 chr2: 73,852,981-73,913,321 NAT8, ALMS1P1
    nsv6660945copy number variation1nstd229human GRCh38 chr2: 73,624,501-73,686,200 , GRCh37.p13 chr2: 73,851,628-73,913,327 ALMS1P1, NAT8
    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
    nsv6628395copy number variation1nstd224human GRCh37 chr2: 73,848,933-73,900,329 , GRCh38.p12 chr2: 73,621,806-73,673,202 ALMS1P1, NAT8
    nsv6628337copy number variation3nstd224human GRCh37 chr2: 73,859,184-73,900,900 , GRCh38.p12 chr2: 73,632,057-73,673,773 NAT8, ALMS1P1
    nsv6628140copy number variation3nstd224human GRCh37 chr2: 73,859,184-73,900,329 , GRCh38.p12 chr2: 73,632,057-73,673,202 ALMS1P1, NAT8
    nsv6353714copy number variation1nstd223human GRCh38 chr2: 73,605,278-73,676,879 , GRCh37.p13 chr2: 73,832,405-73,904,006 NAT8, ALMS1, 1 more genes
    nsv6352612copy number variation1nstd223human GRCh38 chr2: 73,625,901-73,684,400 , GRCh37.p13 chr2: 73,853,028-73,911,527 NAT8, ALMS1P1
    nsv6350540copy number variation1nstd223human GRCh38 chr2: 73,625,201-73,648,500 , GRCh37.p13 chr2: 73,852,328-73,875,627 ALMS1P1, NAT8
    nsv6345014copy number variation1nstd223human GRCh38 chr2: 73,631,071-73,691,078 , GRCh37.p13 chr2: 73,858,198-73,918,205 NAT8, ALMS1P1
    nsv6344575copy number variation1nstd223human GRCh38 chr2: 73,631,355-73,691,233 , GRCh37.p13 chr2: 73,858,482-73,918,360 NAT8, ALMS1P1
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