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Items: 1 to 20 of 246

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5957828insertion1nstd209human GRCh38 chr4: 122,727,567-122,727,567 , GRCh37.p13 chr4: 123,648,722-123,648,722 BBS12
    nsv5906932copy number variation1nstd209human GRCh38 chr4: 122,716,687-122,716,736 , GRCh37.p13 chr4: 123,637,842-123,637,891 BBS12
    nsv5673739copy number variation1nstd102humanPathogenic GRCh37 chr4: 123,663,028-124,235,239 , GRCh38.p12 chr4: 122,741,873-123,314,084 FGF2, NUDT6, 5 more genes
    nsv5582173copy number variation1nstd207human GRCh38 chr4: 122,716,687-122,716,736 , GRCh37.p13 chr4: 123,637,842-123,637,891 BBS12
    nsv5562145sequence alteration1nstd206human GRCh38 chr4: 74,717,205-184,730,527 , GRCh37.p13 chr4: 75,689,880-185,651,681 , ASS1P8, 1307 more genes
    nsv5558253sequence alteration1nstd206human GRCh38 chr4: 120,373,769-143,797,136 , GRCh37.p13 chr4: 121,294,924-144,718,289 , IL15, 218 more genes
    nsv5471081copy number variation1nstd206human GRCh38 chr4: 122,722,020-122,722,074 , GRCh37.p13 chr4: 123,643,175-123,643,229 BBS12
    nsv5463279copy number variation1nstd206human GRCh38 chr4: 122,712,755-122,714,209 , GRCh37.p13 chr4: 123,633,910-123,635,364 BBS12
    nsv5381774copy number variation1nstd102humanPathogenic GRCh37 chr4: 116,833,638-130,232,122 , GRCh38.p12 chr4: 115,912,482-129,310,967 LOC112268469, LOC105377393, 159 more genes
    nsv5367805translocation1nstd200human GRCh38 chr4: 122,722,130-122,722,130 , GRCh38 chr4: 122,723,890-122,723,890 , GRCh37.p13 chr4: 123,645,045-123,645,045 , GRCh37.p13 chr4: 123,643,285-123,643,285 BBS12
    nsv5367804translocation1nstd200human GRCh38 chr4: 122,723,882-122,723,882 , GRCh38 chr4: 122,720,952-122,720,952 , GRCh37.p13 chr4: 123,642,107-123,642,107 , GRCh37.p13 chr4: 123,645,037-123,645,037 BBS12
    nsv5313104copy number variation1nstd204human GRCh38.p13 chr4: 122,716,584-122,716,769 , GRCh37.p13 chr4: 123,637,739-123,637,924 BBS12
    nsv4935651copy number variation1nstd200human GRCh38 chr4: 122,728,034-122,728,660 , GRCh37.p13 chr4: 123,649,189-123,649,815 BBS12, CETN4P
    nsv4935650copy number variation1nstd200human GRCh38 chr4: 122,721,819-122,721,935 , GRCh37.p13 chr4: 123,642,974-123,643,090 BBS12
    nsv4935649copy number variation1nstd200human GRCh38 chr4: 122,712,755-122,714,209 , GRCh37.p13 chr4: 123,633,910-123,635,364 BBS12
    nsv4808271copy number variation1nstd200human GRCh37 chr4: 123,637,769-123,637,920 , GRCh38.p12 chr4: 122,716,614-122,716,765 BBS12
    nsv4808270copy number variation1nstd200human GRCh37 chr4: 123,634,945-123,635,382 , GRCh38.p12 chr4: 122,713,790-122,714,227 BBS12
    nsv4808269copy number variation1nstd200human GRCh37 chr4: 123,633,910-123,635,364 , GRCh38.p12 chr4: 122,712,755-122,714,209 BBS12
    nsv4792053copy number variation1nstd200human GRCh37 chr4: 123,642,974-123,643,090 , GRCh38.p12 chr4: 122,721,819-122,721,935 BBS12
    nsv4761770inversion1nstd199human GRCh37 chr4: 34,988-191,015,248 , GRCh38.p12 chr4: 34,988-190,094,093 , ADD1, 2433 more genes
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