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Items: 1 to 20 of 182

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5936594copy number variation1nstd209human GRCh38 chr19: 55,308,312-55,308,362 , GRCh37.p13 chr19: 55,819,680-55,819,730 BRSK1, TMEM150B
    nsv5929480copy number variation1nstd209human GRCh38 chr19: 55,286,489-55,286,554 , GRCh37.p13 chr19: 55,797,857-55,797,922 BRSK1
    nsv5662758insertion1nstd207human GRCh38 chr19: 55,308,737-55,308,737 , GRCh37.p13 chr19: 55,820,105-55,820,105 BRSK1, TMEM150B
    nsv5661145insertion1nstd207human GRCh38 chr19: 55,286,041-55,286,041 , GRCh37.p13 chr19: 55,797,409-55,797,409 BRSK1
    nsv5651946insertion1nstd207human GRCh38 chr19: 55,285,146-55,285,146 , GRCh37.p13 chr19: 55,796,514-55,796,514 BRSK1
    nsv5650026insertion1nstd207human GRCh38 chr19: 55,308,312-55,308,312 , GRCh37.p13 chr19: 55,819,680-55,819,680 BRSK1, TMEM150B
    nsv5587650copy number variation1nstd207human GRCh38 chr19: 55,286,026-55,286,099 , GRCh37.p13 chr19: 55,797,394-55,797,467 BRSK1
    nsv5519333copy number variation1nstd206human GRCh38 chr19: 55,299,015-55,300,425 , GRCh37.p13 chr19: 55,810,383-55,811,793 BRSK1
    nsv5517983copy number variation1nstd206human GRCh38 chr19: 55,289,280-55,289,357 , GRCh37.p13 chr19: 55,800,648-55,800,725 BRSK1
    nsv5322574copy number variation1nstd204human GRCh38.p13 chr19: 55,285,149-55,286,066 , GRCh37.p13 chr19: 55,796,517-55,797,434 BRSK1
    nsv5161045mobile element insertion1nstd203human GRCh38 chr19: 55,298,235-55,298,262 , GRCh37.p13 chr19: 55,809,603-55,809,630 BRSK1
    nsv5028070copy number variation1nstd200human GRCh38 chr19: 55,285,158-55,286,058 , GRCh37.p13 chr19: 55,796,526-55,797,426 BRSK1
    nsv5024964copy number variation1nstd200human GRCh38 chr19: 55,260,019-55,291,387 , GRCh37.p13 chr19: 55,771,387-55,802,755 BRSK1, HSPBP1
    nsv4861389copy number variation1nstd200human GRCh37 chr19: 55,796,525-55,797,426 , GRCh38.p12 chr19: 55,285,157-55,286,058 BRSK1
    nsv4757228insertion1nstd199human GRCh37 chr19: 55,797,370-55,797,370 , GRCh38.p12 chr19: 55,286,002-55,286,002 BRSK1
    nsv4730034copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,334,195-56,434,037 , GRCh38.p12 chr19: 53,830,941-55,922,671 , GRCh38.p12 chr19|NT_187693.1: 1-1,066,800 , GRCh38.p12 chr19|NW_003571057.2: 1-1,091,841 , GRCh38.p12 chr19|NW_003571058.2: 1-1,066,390 , GRCh38.p12 chr19|NW_003571056.2: 1-1,064,304 KIR3DP1, NLRP9, 133 more genes
    nsv4729755copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886 SIGLEC5, MED25, 574 more genes
    nsv4262208copy number variation1nstd166human GRCh37.p13 chr19: 55,793,718-55,793,785 , GRCh38.p12 chr19: 55,282,350-55,282,417 BRSK1
    nsv4256806copy number variation1nstd166human GRCh37.p13 chr19: 55,796,496-55,796,654 , GRCh38.p12 chr19: 55,285,128-55,285,286 BRSK1
    nsv3968726insertion1nstd168human GRCh38 chr19: 55,231,905-55,288,265 , GRCh37.p13 chr19: 55,743,273-55,799,633 PPP6R1, HSPBP1, 3 more genes
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