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Items: 1 to 20 of 275

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv5980067inversion1nstd209human GRCh38 chr12: 5,470,923-5,471,638 , GRCh37.p13 chr12: 5,580,089-5,580,804 NTF3
    nsv5979623insertion1nstd209human GRCh38 chr12: 5,481,483-5,481,483 , GRCh37.p13 chr12: 5,590,649-5,590,649 NTF3
    nsv5921920copy number variation1nstd209human GRCh38 chr12: 3,058,695-6,171,259 , GRCh37.p13 chr12: 3,167,861-6,280,425 , LOC105369623, 54 more genes
    nsv5908961copy number variation1nstd209human GRCh38 chr12: 5,482,638-5,482,692 , GRCh37.p13 chr12: 5,591,804-5,591,858 NTF3
    nsv5853161copy number variation1nstd209human GRCh38 chr12: 5,430,367-5,433,217 , GRCh37.p13 chr12: 5,539,533-5,542,383 NTF3
    nsv5850246copy number variation1nstd209human GRCh38 chr12: 5,457,513-5,458,812 , GRCh37.p13 chr12: 5,566,679-5,567,978 NTF3
    nsv5849066copy number variation1nstd209human GRCh38 chr12: 5,477,884-5,480,383 , GRCh37.p13 chr12: 5,587,050-5,589,549 NTF3
    nsv5662898insertion1nstd207human GRCh38 chr12: 5,481,483-5,481,483 , GRCh37.p13 chr12: 5,590,649-5,590,649 NTF3
    nsv5561453sequence alteration1nstd206human GRCh38 chr12: 5,470,926-5,471,654 , GRCh37.p13 chr12: 5,580,092-5,580,820 NTF3
    nsv5508458copy number variation1nstd206human GRCh38 chr12: 5,467,158-5,467,248 , GRCh37.p13 chr12: 5,576,324-5,576,414 NTF3
    nsv5498580copy number variation1nstd206human GRCh38 chr12: 5,470,926-5,471,654 , GRCh37.p13 chr12: 5,580,092-5,580,820 NTF3
    nsv5380741copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,479,509-6,235,003 , GRCh38.p12 chr12: 4,370,343-6,125,837 ANO2, LOC105369617, 25 more genes
    nsv5373963translocation1nstd200human GRCh38 chr12: 5,471,655-5,471,655 , GRCh38 chr12: 5,471,478-5,471,478 , GRCh37.p13 chr12: 5,580,644-5,580,644 , GRCh37.p13 chr12: 5,580,821-5,580,821 NTF3
    nsv5319899copy number variation1nstd204human GRCh38.p13 chr12: 5,433,182-5,584,167 , GRCh37.p13 chr12: 5,542,348-5,693,333 NTF3, LOC101901829, 1 more genes
    nsv5313780copy number variation1nstd204human GRCh38.p13 chr12: 5,468,210-5,519,415 , GRCh37.p13 chr12: 5,577,376-5,628,581 NTF3
    nsv5276905copy number variation1nstd204human GRCh38.p13 chr12: 5,433,201-5,584,200 , GRCh37.p13 chr12: 5,542,367-5,693,366 ANO2, LOC101901829, 1 more genes
    nsv5273690copy number variation1nstd204human GRCh38.p13 chr12: 5,432,918-5,470,010 , GRCh37.p13 chr12: 5,542,084-5,579,176 NTF3
    nsv5267179copy number variation1nstd204human GRCh38.p13 chr12: 5,468,286-5,519,023 , GRCh37.p13 chr12: 5,577,452-5,628,189 NTF3
    nsv5262863copy number variation1nstd204human GRCh38.p13 chr12: 5,470,661-5,471,760 , GRCh37.p13 chr12: 5,579,827-5,580,926 NTF3
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