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Items: 1 to 20 of 194

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130860insertion1nstd186human GRCh37 chr22: 38,506,087-38,506,106 , GRCh38.p12 chr22: 38,110,080-38,110,099 PLA2G6, BAIAP2L2
    nsv5980016insertion1nstd209human GRCh38 chr22: 38,110,055-38,110,055 , GRCh37.p13 chr22: 38,506,062-38,506,062 PLA2G6, BAIAP2L2
    nsv5977786insertion1nstd209human GRCh38 chr22: 38,084,929-38,084,929 , GRCh37.p13 chr22: 38,480,936-38,480,936 BAIAP2L2
    nsv5708227mobile element insertion2nstd211human GRCh38 chr22: 38,092,230-38,092,230 , GRCh37.p13 chr22: 38,488,237-38,488,237 BAIAP2L2
    nsv5668851insertion1nstd207human GRCh38 chr22: 38,110,050-38,110,050 , GRCh37.p13 chr22: 38,506,057-38,506,057 BAIAP2L2, PLA2G6
    nsv5666011insertion1nstd207human GRCh38 chr22: 38,110,128-38,110,128 , GRCh37.p13 chr22: 38,506,135-38,506,135 BAIAP2L2, PLA2G6
    nsv5665356insertion1nstd207human GRCh38 chr22: 38,110,042-38,110,042 , GRCh37.p13 chr22: 38,506,049-38,506,049 BAIAP2L2, PLA2G6
    nsv5549541insertion1nstd206human GRCh38 chr22: 38,110,080-38,110,099 , GRCh37.p13 chr22: 38,506,087-38,506,106 PLA2G6, BAIAP2L2
    nsv5419733mobile element insertion1nstd206human GRCh38 chr22: 38,092,230-38,092,281 , GRCh37.p13 chr22: 38,488,237-38,488,288 BAIAP2L2
    nsv5360568translocation1nstd200human GRCh38 chr22: 38,109,832-38,109,832 , GRCh38 chr22: 38,109,654-38,109,654 , GRCh37.p13 chr22: 38,505,661-38,505,661 , GRCh37.p13 chr22: 38,505,839-38,505,839 BAIAP2L2, PLA2G6
    nsv5286611copy number variation1nstd204human GRCh38.p13 chr22: 38,100,310-38,115,246 , GRCh37.p13 chr22: 38,496,317-38,511,253 BAIAP2L2, PLA2G6
    nsv5281828copy number variation1nstd204human GRCh38.p13 chr22: 38,100,601-38,132,100 , GRCh37.p13 chr22: 38,496,608-38,528,107 PLA2G6, BAIAP2L2
    nsv5200376copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,155,164-38,541,997 , GRCh38.p12 chr22: 37,759,157-38,145,990 H1-0, PLA2G6, 18 more genes
    nsv5167096mobile element insertion1nstd203human GRCh38 chr22: 38,100,908-38,100,919 , GRCh37.p13 chr22: 38,496,915-38,496,926 BAIAP2L2
    nsv5038408copy number variation1nstd200human GRCh38 chr22: 38,089,454-38,090,220 , GRCh37.p13 chr22: 38,485,461-38,486,227 BAIAP2L2
    nsv4751366insertion1nstd199human GRCh37 chr22: 38,506,046-38,506,046 , GRCh38.p12 chr22: 38,110,039-38,110,039 PLA2G6, BAIAP2L2
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4676116copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,002,218-38,973,070 , GRCh38.p12 chr22: 37,606,211-38,577,065 CSNK1E, RN7SL704P, 43 more genes
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