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Items: 1 to 20 of 213

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095655copy number variation1nstd102humanPathogenic GRCh37 chr19: 41,916,532-41,920,072 , GRCh38.p12 chr19: 41,410,627-41,414,167 BCKDHA
    nsv7095480copy number variation4nstd102humanUncertain significance GRCh37 chr19: 39,904,727-42,931,301 , GRCh38.p12 chr19: 39,414,087-42,427,149 CYP2B6, EID2B, 140 more genes
    nsv7093586insertion1nstd102humanPathogenic GRCh38 chr19: 41,397,824-41,397,824 , GRCh37 chr19: 41,903,729-41,903,729 BCKDHA, EXOSC5
    nsv7071361inversion1nstd229human GRCh38 chr19: 39,004,066-42,402,005 , GRCh37.p13 chr19: 39,494,706-42,906,157 RAB4B, RABAC1, 160 more genes
    nsv7068288inversion1nstd229human GRCh38 chr19: 39,023,970-42,945,419 , GRCh37.p13 chr19: 39,514,610-43,449,571 MIR4530, RNU6-195P, 178 more genes
    nsv7066709inversion1nstd229human GRCh38 chr19: 40,109,835-46,893,669 , GRCh37.p13 chr19: 40,615,742-47,396,926 LOC105372405, RNU6-611P, 305 more genes
    nsv7014810copy number variation1nstd229human GRCh38 chr19: 41,415,740-41,418,233 , GRCh37.p13 chr19: 41,921,645-41,924,138 BCKDHA
    nsv7014693copy number variation1nstd229human GRCh38 chr19: 41,351,628-41,450,794 , GRCh37.p13 chr19: 41,857,533-41,936,866 DMAC2, TMEM91, 7 more genes
    nsv7009742copy number variation1nstd229human GRCh38 chr19: 41,403,399-41,411,326 , GRCh37.p13 chr19: 41,909,304-41,917,231 BCKDHA
    nsv7008156copy number variation1nstd229human GRCh38 chr19: 36,851,242-46,031,790 , GRCh37.p13 chr19: 37,342,144-46,535,048 LOC105372390, LOC107985291, 396 more genes
    nsv7004339copy number variation1nstd229human GRCh38 chr19: 41,411,829-41,432,986 , GRCh37.p13 chr19: 41,917,734-41,936,866 BCKDHA, DMAC2, 1 more genes
    nsv7002087copy number variation1nstd229human GRCh38 chr19: 41,412,202-41,412,262 , GRCh37.p13 chr19: 41,918,107-41,918,167 BCKDHA
    nsv6999626copy number variation1nstd229human GRCh38 chr19: 41,415,001-41,417,600 , GRCh37.p13 chr19: 41,920,906-41,923,505 BCKDHA
    nsv6598416inversion1nstd223human GRCh38 chr19: 40,109,815-44,449,696 , GRCh37.p13 chr19: 40,615,722-44,953,884 , SERTAD1, 188 more genes
    nsv6535162copy number variation1nstd223human GRCh38 chr19: 41,351,628-41,450,794 , GRCh37.p13 chr19: 41,857,533-41,936,866 DMAC2, B3GNT8, 7 more genes
    nsv6533507copy number variation1nstd223human GRCh38 chr19: 41,398,303-41,400,000 , GRCh37.p13 chr19: 41,904,208-41,905,905 BCKDHA
    nsv6529416copy number variation1nstd223human GRCh38 chr19: 41,400,073-41,408,324 , GRCh37.p13 chr19: 41,905,978-41,914,229 BCKDHA
    nsv6526749copy number variation1nstd223human GRCh38 chr19: 41,415,001-41,417,741 , GRCh37.p13 chr19: 41,920,906-41,923,646 BCKDHA
    nsv6310484copy number variation1nstd102humanPathogenic GRCh37 chr19: 41,925,030-41,930,736 , GRCh38.p12 chr19: 41,419,125-41,424,831 B3GNT8, BCKDHA
    nsv6310483copy number variation1nstd102humanPathogenic GRCh37 chr19: 41,903,723-41,916,924 , GRCh38.p12 chr19: 41,397,818-41,411,019 BCKDHA, EXOSC5
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