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Items: 1 to 20 of 104

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7078008inversion1nstd229human GRCh38 chr14: 60,214,891-67,756,686 , GRCh37.p13 chr14: 60,681,609-68,223,403 ATP6V1D, LOC101927756, 129 more genes
    nsv7074395inversion1nstd229human GRCh38 chr14: 60,340,053-62,327,269 , GRCh37.p13 chr14: 60,806,771-62,793,987 MAD2L1P1, GNRHR2P1, 33 more genes
    nsv7060471inversion1nstd229human GRCh38 chr14: 54,671,401-63,742,041 , GRCh37.p13 chr14: 55,138,119-64,208,759 KTN1, OTX2-AS1, 153 more genes
    nsv6975955copy number variation1nstd229human GRCh38 chr14: 61,277,140-61,287,154 , GRCh37.p13 chr14: 61,743,858-61,753,872 TMEM30B, PRKCH
    nsv6965809copy number variation1nstd229human GRCh38 chr14: 61,247,330-61,276,652 , GRCh37.p13 chr14: 61,714,048-61,743,370 TMEM30B, PRKCH
    nsv6637682copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 57,804,997-63,590,203 , GRCh38.p12 chr14: 57,338,279-63,123,485 PARP1P2, HIF1A, 91 more genes
    nsv6622563copy number variation1nstd224human GRCh37 chr14: 61,371,810-61,924,398 , GRCh38.p12 chr14: 60,905,092-61,457,680 MNAT1, PRKCH, 6 more genes
    nsv6594267inversion1nstd223human GRCh38 chr14: 54,883,431-63,921,497 , GRCh37.p13 chr14: 55,350,149-64,388,215 RPL36AP1, GNRHR2P1, 152 more genes
    nsv6488564copy number variation1nstd223human GRCh38 chr14: 61,279,901-61,281,900 , GRCh37.p13 chr14: 61,746,619-61,748,618 PRKCH, TMEM30B
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 PAPOLA-DT, LOC105378180, 1338 more genes
    nsv6133133copy number variation1nstd213human GRCh37 chr14: 61,640,000-61,950,001 , GRCh38.p12 chr14: 61,173,282-61,483,283 PRKCH, TMEM30B
    nsv6132790copy number variation2nstd213human GRCh37 chr14: 61,000,000-61,870,001 , GRCh38.p12 chr14: 60,533,282-61,403,283 MNAT1, PRKCH, 14 more genes
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4999611copy number variation1nstd200human GRCh38 chr14: 61,277,132-61,287,123 , GRCh37.p13 chr14: 61,743,850-61,753,841 TMEM30B, PRKCH
    nsv4729599copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 61,409,856-65,742,610 , GRCh38.p12 chr14: 60,943,138-65,275,892 PARP1P2, ESR2, 73 more genes
    nsv4685707copy number variation1nstd102humannot provided GRCh37 chr14: 61,701,451-62,960,957 , GRCh38.p12 chr14: 61,234,733-62,494,239 LINC00644, MOCS3P1, 16 more genes
    nsv4626409copy number variation1nstd183human GRCh37 chr14: 61,745,177-61,745,644 , GRCh38.p12 chr14: 61,278,459-61,278,926 PRKCH, TMEM30B
    nsv4455801copy number variation1nstd102humanUncertain significance GRCh37 chr14: 61,126,208-63,517,651 , GRCh38.p12 chr14: 60,659,490-63,050,933 LOC105370529, LINC00644, 26 more genes
    nsv4450515copy number variation1nstd102humannot provided GRCh37 chr14: 61,701,451-62,960,957 , GRCh38.p12 chr14: 61,234,733-62,494,239 LOC105370525, LOC105370528, 16 more genes
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