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Items: 1 to 20 of 721

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881509copy number variation1nstd209human GRCh38 chr1: 1,264,791-1,546,719 , GRCh37.p13 chr1: 1,200,171-1,482,099 , MRPL20-AS1, 30 more genes
    nsv5827640copy number variation1nstd209human GRCh38 chr1: 1,264,710-1,283,865 , GRCh37.p13 chr1: 1,200,090-1,219,245 LINC01786, UBE2J2, 1 more genes
    nsv5690131mobile element insertion1nstd211human GRCh38 chr1: 1,270,223-1,270,223 , GRCh37.p13 chr1: 1,205,603-1,205,603 UBE2J2
    nsv5583789copy number variation1nstd207human GRCh38 chr1: 1,269,099-1,269,253 , GRCh37.p13 chr1: 1,204,479-1,204,633 UBE2J2
    nsv5569351copy number variation1nstd207human GRCh38 chr1: 1,269,099-1,269,174 , GRCh37.p13 chr1: 1,204,479-1,204,554 UBE2J2
    nsv5412213mobile element insertion1nstd206human GRCh38 chr1: 1,270,223-1,270,274 , GRCh37.p13 chr1: 1,205,603-1,205,654 UBE2J2
    nsv5381304copy number variation2nstd102humanUncertain significance GRCh37 chr1: 948,954-1,284,445 , GRCh38.p12 chr1: 1,013,574-1,349,065 LOC100288175, UBE2J2, 28 more genes
    nsv5208305copy number variation1nstd204human GRCh38.p13 chr1: 890,901-1,634,500 , GRCh37.p13 chr1: 826,281-1,569,876 , PLEKHN1, 62 more genes
    nsv5203371copy number variation1nstd204human GRCh38.p13 chr1: 934,001-1,382,300 , GRCh37.p13 chr1: 869,381-1,317,680 AGRN, UBE2J2, 38 more genes
    nsv5203017copy number variation1nstd204human GRCh37.p13 chr1: 1,183,281-1,257,980 , GRCh38.p13 chr1: 1,247,901-1,322,600 SCNN1D, INTS11, 7 more genes
    nsv4905947copy number variation1nstd200human GRCh38 chr1: 1,261,803-1,262,670 , GRCh37.p13 chr1: 1,197,183-1,198,050 UBE2J2
    nsv4894240copy number variation1nstd200human GRCh38 chr1: 1,268,343-1,339,034 , GRCh37.p13 chr1: 1,203,723-1,274,414 ACAP3, TAS1R3, 11 more genes
    nsv4894236copy number variation1nstd200human GRCh38 chr1: 1,159,957-1,276,804 , GRCh37.p13 chr1: 1,095,337-1,212,184 UBE2J2, TTLL10, 10 more genes
    nsv4772081copy number variation1nstd200human GRCh37 chr1: 1,095,337-1,212,184 , GRCh38.p12 chr1: 1,159,957-1,276,804 LINC01786, MIR200B, 10 more genes
    nsv4769317copy number variation1nstd102humanPathogenic GRCh37 chr1: 753,462-1,717,335 , GRCh38.p12 chr1: 818,082-1,785,896 MMP23B, DVL1, 76 more genes
    nsv4728693copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-2,033,256 , GRCh38.p12 chr1: 914,086-2,101,817 SDF4, GNB1-DT, 80 more genes
    nsv4728279copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 849,466-1,806,659 , GRCh38.p12 chr1: 914,086-1,875,220 CDK11B, DVL1, 70 more genes
    nsv4728263copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-1,976,788 , GRCh38.p12 chr1: 914,086-2,045,349 VWA1, MRPL20, 78 more genes
    nsv4728187copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-5,592,835 , GRCh38.p12 chr1: 10,001-5,532,775 UBE2J2, MRPL20, 196 more genes
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 more genes
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