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Items: 1 to 20 of 212

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5952166insertion1nstd209human GRCh38 chr2: 30,800,116-30,800,116 , GRCh37.p13 chr2: 31,022,982-31,022,982 CAPN13
    nsv5947815insertion1nstd209human GRCh38 chr2: 30,796,194-30,796,194 , GRCh37.p13 chr2: 31,019,060-31,019,060 CAPN13
    nsv5688075mobile element insertion2nstd211human GRCh38 chr2: 30,751,443-30,751,443 , GRCh37.p13 chr2: 30,974,309-30,974,309 CAPN13
    nsv5614035insertion1nstd207human GRCh38 chr2: 30,800,140-30,800,140 , GRCh37.p13 chr2: 31,023,006-31,023,006 CAPN13
    nsv5610776insertion1nstd207human GRCh38 chr2: 30,796,185-30,796,185 , GRCh37.p13 chr2: 31,019,051-31,019,051 CAPN13
    nsv5609864insertion1nstd207human GRCh38 chr2: 30,780,340-30,780,340 , GRCh37.p13 chr2: 31,003,206-31,003,206 CAPN13
    nsv5446148copy number variation1nstd206human GRCh38 chr2: 30,800,110-30,800,160 , GRCh37.p13 chr2: 31,022,976-31,023,026 CAPN13
    nsv5406762mobile element insertion1nstd206human GRCh38 chr2: 30,751,443-30,751,494 , GRCh37.p13 chr2: 30,974,309-30,974,360 CAPN13
    nsv5374987translocation1nstd200human GRCh38 chr2: 30,737,430-30,737,430 , GRCh38 chr2: 30,736,574-30,736,574 , GRCh37.p13 chr2: 30,959,440-30,959,440 , GRCh37.p13 chr2: 30,960,296-30,960,296 CAPN13
    nsv5214513copy number variation1nstd204human GRCh38.p13 chr2: 30,791,001-30,794,900 , GRCh37.p13 chr2: 31,013,867-31,017,766 CAPN13
    nsv5074332mobile element insertion1nstd203human GRCh38 chr2: 30,726,552-30,726,566 , GRCh37.p13 chr2: 30,949,418-30,949,432 CAPN13
    nsv4904903copy number variation1nstd200human GRCh38 chr2: 30,792,238-30,847,703 , GRCh37.p13 chr2: 31,015,104-31,070,569 CAPN13, LOC105374435
    nsv4900910copy number variation1nstd200human GRCh38 chr2: 30,800,421-30,825,569 , GRCh37.p13 chr2: 31,023,287-31,048,435 LOC105374435, CAPN13
    nsv4900909copy number variation1nstd200human GRCh38 chr2: 30,775,187-30,785,752 , GRCh37.p13 chr2: 30,998,053-31,008,618 CAPN13
    nsv4900908copy number variation1nstd200human GRCh38 chr2: 30,724,616-30,724,813 , GRCh37.p13 chr2: 30,947,482-30,947,679 CAPN13
    nsv4775967copy number variation1nstd200human GRCh37 chr2: 31,023,287-31,048,435 , GRCh38.p12 chr2: 30,800,421-30,825,569 CAPN13, LOC105374435
    nsv4775966copy number variation1nstd200human GRCh37 chr2: 31,011,497-31,011,566 , GRCh38.p12 chr2: 30,788,631-30,788,700 CAPN13
    nsv4775965copy number variation1nstd200human GRCh37 chr2: 31,002,340-31,002,413 , GRCh38.p12 chr2: 30,779,474-30,779,547 CAPN13
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