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Items: 1 to 20 of 678

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148232copy number variation1nstd102humanPathogenic GRCh38 chr2: 111,940,205-112,029,659 , GRCh37.p13 chr2: 112,697,782-112,787,236 MERTK, RTRAFP1, 1 more genes
    nsv7148192copy number variation1nstd102humanPathogenic GRCh38 chr2: 111,993,999-111,994,721 , GRCh37.p13 chr2: 112,751,576-112,752,298 MERTK
    nsv7148143copy number variation1nstd102humanPathogenic GRCh38 chr2: 111,940,205-112,055,854 , GRCh37.p13 chr2: 112,697,782-112,813,431 TMEM87B, RTRAFP1, 2 more genes
    nsv7148080copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,335,152-113,127,204 , GRCh38.p12 chr2: 110,577,575-112,369,627 MIR4771-2, BUB1, 33 more genes
    nsv7148068copy number variation1nstd102humanUncertain significance GRCh37 chr2: 111,395,541-113,090,065 , GRCh38.p12 chr2: 110,637,964-112,332,488 NDUFB4P6, SLC30A6P1, 28 more genes
    nsv7098850copy number variation1nstd102humanUncertain significance GRCh37 chr2: 111,368,292-113,191,030 , GRCh38.p12 chr2: 110,610,715-112,433,453 MERTK, MIR4435-2HG, 33 more genes
    nsv7096324copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,761,461-112,767,663 , GRCh38.p12 chr2: 112,003,884-112,010,086 MERTK
    nsv7096194copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,751,808-112,752,001 , GRCh38.p12 chr2: 111,994,231-111,994,424 MERTK
    nsv7096193copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,722,748-112,740,590 , GRCh38.p12 chr2: 111,965,171-111,983,013 MERTK
    nsv7095851copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,779,835-112,780,119 , GRCh38.p12 chr2: 112,022,258-112,022,542 MERTK
    nsv7095850copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,778,979-112,779,178 , GRCh38.p12 chr2: 112,021,402-112,021,601 MERTK
    nsv7095849copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,656,313-112,705,164 , GRCh38.p12 chr2: 111,898,736-111,947,587 RTRAFP1, MERTK, 1 more genes
    nsv7093552insertion1nstd102humanUncertain significance GRCh38 chr2: 112,019,524-112,019,524 , GRCh37 chr2: 112,777,101-112,777,101 MERTK
    nsv7057535inversion1nstd229human GRCh38 chr2: 112,022,170-112,027,531 , GRCh37.p13 chr2: 112,779,747-112,785,108 MERTK
    nsv7049771inversion1nstd229human GRCh38 chr2: 112,027,405-112,033,410 , GRCh37.p13 chr2: 112,784,982-112,790,987 MERTK
    nsv7044374inversion1nstd229human GRCh38 chr2: 111,950,096-111,952,028 , GRCh37.p13 chr2: 112,707,673-112,709,605 MERTK, SLC30A6P1
    nsv7044064inversion1nstd229human GRCh38 chr2: 112,019,946-120,004,832 , GRCh37.p13 chr2: 112,777,523-120,762,408 LOC105373563, IL1A, 112 more genes
    nsv7042586inversion1nstd229human GRCh38 chr2: 111,572,275-118,829,502 , GRCh37.p13 chr2: 112,329,852-119,587,078 LOC105373579, NT5DC4, 103 more genes
    nsv6697903copy number variation1nstd229human GRCh38 chr2: 111,931,201-112,051,900 , GRCh37.p13 chr2: 112,688,778-112,809,477 SLC30A6P1, RTRAFP1, 1 more genes
    nsv6697683copy number variation1nstd229human GRCh38 chr2: 111,987,997-111,996,193 , GRCh37.p13 chr2: 112,745,574-112,753,770 MERTK
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