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Items: 1 to 20 of 197

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7052448inversion1nstd229human GRCh38 chr2: 65,000,823-65,039,838 , GRCh37.p13 chr2: 65,227,957-65,266,972 SLC1A4, LINC02576
    nsv7051264inversion1nstd229human GRCh38 chr2: 65,017,088-65,067,732 , GRCh37.p13 chr2: 65,244,222-65,294,866 CEP68, SLC1A4, 1 more genes
    nsv6676910copy number variation1nstd229human GRCh38 chr2: 65,006,337-65,006,910 , GRCh37.p13 chr2: 65,233,471-65,234,044 SLC1A4
    nsv6668355copy number variation1nstd229human GRCh38 chr2: 64,997,045-64,998,686 , GRCh37.p13 chr2: 65,224,179-65,225,820 SLC1A4
    nsv6662398copy number variation1nstd229human GRCh38 chr2: 64,988,669-64,989,061 , GRCh37.p13 chr2: 65,215,803-65,216,195 SLC1A4
    nsv6661023copy number variation1nstd229human GRCh38 chr2: 64,996,489-64,998,368 , GRCh37.p13 chr2: 65,223,623-65,225,502 SLC1A4
    nsv6637048copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,110,275-65,556,249 , GRCh38.p12 chr2: 64,883,141-65,329,115 CEP68, SLC1A4, 9 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6551094inversion1nstd223human GRCh38 chr2: 64,078,330-67,334,177 , GRCh37.p13 chr2: 64,305,464-67,561,309 LINC01805, LINC02579, 59 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6306612insertion1nstd186human GRCh37 chr2: 65,216,412-65,216,428 , GRCh38.p12 chr2: 64,989,278-64,989,294 , SLC1A4
    nsv6292007mobile element insertion1nstd186human GRCh37 chr2: 65,237,616-65,237,667 , GRCh38.p12 chr2: 65,010,482-65,010,533 , SLC1A4
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv6056295insertion1nstd212human GRCh38 chr2: 64,997,150-64,997,150 , GRCh37.p13 chr2: 65,224,284-65,224,284 , SLC1A4
    nsv6043082insertion1nstd212human GRCh38 chr2: 64,989,255-64,989,255 , GRCh37.p13 chr2: 65,216,389-65,216,389 , SLC1A4
    nsv5974385inversion1nstd209human GRCh38 chr2: 64,078,330-67,334,176 , GRCh37.p13 chr2: 64,305,464-67,561,308 , MEIS1, 63 more genes
    nsv5960625insertion1nstd209human GRCh38 chr2: 64,989,243-64,989,243 , GRCh37.p13 chr2: 65,216,377-65,216,377 , SLC1A4
    nsv5869567copy number variation1nstd209human GRCh38 chr2: 64,997,839-64,997,970 , GRCh37.p13 chr2: 65,224,973-65,225,104 , SLC1A4
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