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Items: 1 to 20 of 393

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137752copy number variation1nstd102humanPathogenic GRCh38 chr22: 28,696,850-28,699,986 , GRCh37 chr22: 29,092,838-29,095,974 CHEK2
    nsv5870356copy number variation1nstd209human GRCh38 chr22: 28,701,411-28,704,214 , GRCh37.p13 chr22: 29,097,399-29,100,202 CHEK2
    nsv5728000mobile element insertion1nstd211human GRCh38 chr22: 28,726,202-28,726,202 , GRCh37.p13 chr22: 29,122,190-29,122,190 CHEK2
    nsv5718144mobile element insertion1nstd211human GRCh38 chr22: 28,726,210-28,726,210 , GRCh37.p13 chr22: 29,122,198-29,122,198 CHEK2
    nsv5674318insertion1nstd102humanPathogenic GRCh37 chr22: 29,115,397-29,115,397 , GRCh38 chr22: 28,719,409-28,719,409 CHEK2
    nsv5674290insertion1nstd102humanPathogenic GRCh37 chr22: 29,115,402-29,115,402 , GRCh38 chr22: 28,719,414-28,719,414 CHEK2
    nsv5673430copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,091,105-29,091,240 , GRCh38.p12 chr22: 28,695,117-28,695,252 CHEK2
    nsv5673429copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 29,090,010-29,130,713 , GRCh38.p12 chr22: 28,694,022-28,734,725 CHEK2
    nsv5673428copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,090,010-29,115,483 , GRCh38.p12 chr22: 28,694,022-28,719,495 CHEK2
    nsv5673427copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-30,337,586 , GRCh38.p12 chr22: 28,687,897-29,941,597 SNORD125, RASL10A, 36 more genes
    nsv5673426copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-29,099,564 , GRCh38.p12 chr22: 28,687,897-28,703,576 CHEK2
    nsv5673351copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,105,984-30,337,586 , GRCh38.p12 chr22: 28,709,996-29,941,597 SNORD125, RASL10A, 36 more genes
    nsv5673350copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 29,095,816-29,099,564 , GRCh38.p12 chr22: 28,699,828-28,703,576 CHEK2
    nsv5673349copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,092,879-29,095,935 , GRCh38.p12 chr22: 28,696,891-28,699,947 CHEK2
    nsv5673348copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-29,130,709 , GRCh38.p12 chr22: 28,687,897-28,734,721 CHEK2
    nsv5673347copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,082,731-29,138,822 , GRCh38.p12 chr22: 28,686,743-28,742,834 HSCB, CHEK2
    nsv5673343copy number variation1nstd102humanPathogenic GRCh38 chr22: 28,725,115-28,729,337 , GRCh37 chr22: 29,121,103-29,125,325 CHEK2
    nsv5673342copy number variation2nstd102humanPathogenic GRCh38 chr22: 28,696,571-28,701,965 , GRCh37 chr22: 29,092,559-29,097,953 CHEK2
    nsv5673190copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,105,988-29,115,479 , GRCh38.p12 chr22: 28,710,000-28,719,491 CHEK2
    nsv5673189copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 29,099,483-29,108,015 , GRCh38.p12 chr22: 28,703,495-28,712,027 CHEK2
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