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Items: 1 to 20 of 44627

  • The following term was not found in dbVar: Synuclein.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6312482copy number variation1nstd102humanPathogenic GRCh37 chr6: 45,405,664-45,480,164 , GRCh38.p12 chr6: 45,437,927-45,512,427 RUNX2
    nsv3873829copy number variation1nstd102humanPathogenic GRCh38 chr2: 31,524,586-31,580,971 , GRCh37.p13 chr2: 31,749,656-31,806,040 SRD5A2
    nsv3880665copy number variation1nstd102humanPathogenic GRCh38 chr6: 129,349,278-129,403,979 , GRCh37 chr6: 129,670,423-129,725,124 LAMA2
    nsv4453088copy number variation1nstd102humanPathogenic GRCh38 chr6: 129,349,288-129,403,969 , GRCh37 chr6: 129,670,433-129,725,114 LAMA2
    nsv4347142copy number variation1nstd102humanPathogenic GRCh37 chr2: 31,758,677-31,805,700 , GRCh38.p12 chr2: 31,533,607-31,580,630 SRD5A2
    nsv4451019copy number variation1nstd102humanPathogenic GRCh37 chr6: 129,380,919-129,419,570 , GRCh38 chr6: 129,059,774-129,098,425 LAMA2
    nsv4451567copy number variation1nstd102humanPathogenic GRCh37 chrX: 76,944,291-76,972,740 , GRCh38.p12 chrX: 77,688,798-77,717,263 ATRX
    nsv4682862copy number variation1nstd102humanPathogenic GRCh37 chr11: 107,992,324-108,018,127 , GRCh38.p12 chr11: 108,121,597-108,147,400 ACAT1
    nsv6312026copy number variation1nstd102humanPathogenic GRCh37 chr6: 129,670,423-129,691,155 , GRCh38.p12 chr6: 129,349,278-129,370,010 LAMA2
    nsv5673527copy number variation1nstd102humanPathogenic GRCh37 chr6: 129,785,425-129,802,594 , GRCh38.p12 chr6: 129,464,280-129,481,449 LAMA2
    nsv6312027copy number variation1nstd102humanPathogenic GRCh37 chr6: 129,691,027-129,704,388 , GRCh38.p12 chr6: 129,369,882-129,383,243 LAMA2
    nsv3884100copy number variation1nstd102humanPathogenic GRCh37 chr18: 7,038,809-7,050,936 , GRCh38 chr18: 7,038,809-7,050,936 LAMA1
    nsv6309711copy number variation1nstd102humanPathogenic GRCh37 chr14: 94,843,455-94,854,896 , GRCh38.p12 chr14: 94,377,118-94,388,559 , GRCh38.p12 chr14|NT_187601.1: 1,493,690-1,505,131 SERPINA1
    nsv5672906copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,762,957-12,772,200 , GRCh38.p12 chr19: 12,652,143-12,661,386 MAN2B1
    nsv4683618copy number variation1nstd102humanPathogenic GRCh37 chr8: 43,024,296-43,033,397 , GRCh38.p12 chr8: 43,169,153-43,178,254 HGSNAT
    nsv6309563copy number variation1nstd102humanPathogenic GRCh37 chr14: 94,847,198-94,854,896 , GRCh38.p12 chr14|NT_187601.1: 1,497,433-1,505,131 , GRCh38.p12 chr14: 94,380,861-94,388,559 SERPINA1
    nsv6311666copy number variation1nstd102humanPathogenic GRCh37 chr2: 31,751,266-31,758,856 , GRCh38.p12 chr2: 31,526,196-31,533,786 SRD5A2
    nsv6137862copy number variation1nstd102humanPathogenic GRCh37 chr16: 88,709,698-88,716,102 , GRCh38.p12 chr16: 88,643,290-88,649,694 CYBA
    nsv6312481copy number variation1nstd102humanPathogenic GRCh37 chr6: 45,399,580-45,405,808 , GRCh38.p12 chr6: 45,431,843-45,438,071 RUNX2
    nsv1398484copy number variation1nstd102humanPathogenic GRCh37 chr5: 35,862,009-35,867,620 , GRCh38.p12 chr5: 35,861,907-35,867,518 IL7R
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