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Items: 1 to 20 of 257

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096876copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,525,051-46,851,366 , GRCh38.p12 chr2: 46,297,912-46,624,227 TMEM247, CRIPT, 8 more genes
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7055108inversion1nstd229human GRCh38 chr2: 46,564,269-46,564,306 , GRCh37.p13 chr2: 46,791,408-46,791,445 RHOQ
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 more genes
    nsv6671921copy number variation1nstd229human GRCh38 chr2: 46,310,701-46,704,700 , GRCh37.p13 chr2: 46,537,840-46,931,839 SOCS5, LINC02583, 10 more genes
    nsv6666729copy number variation1nstd229human GRCh38 chr2: 46,584,901-46,591,000 , GRCh37.p13 chr2: 46,812,040-46,818,139 RHOQ, PIGF
    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
    nsv6353072copy number variation1nstd223human GRCh38 chr2: 46,548,771-46,563,099 , GRCh37.p13 chr2: 46,775,910-46,790,238 RHOQ
    nsv6339220copy number variation1nstd223human GRCh38 chr2: 46,582,001-46,584,700 , GRCh37.p13 chr2: 46,809,140-46,811,839 PIGF, RHOQ
    nsv6337353copy number variation1nstd223human GRCh38 chr2: 46,534,858-46,542,789 , GRCh37.p13 chr2: 46,761,997-46,769,928 RHOQ, ATP6V1E2
    nsv6336405copy number variation1nstd223human GRCh38 chr2: 46,561,024-46,571,698 , GRCh37.p13 chr2: 46,788,163-46,798,837 RHOQ, RHOQ-AS1
    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
    nsv6300158copy number variation1nstd186human GRCh37 chr2: 46,773,606-46,773,658 , GRCh38.p12 chr2: 46,546,467-46,546,519 RHOQ
    nsv6298136copy number variation1nstd186human GRCh37 chr2: 46,769,727-46,769,916 , GRCh38.p12 chr2: 46,542,588-46,542,777 ATP6V1E2, RHOQ
    nsv6262171copy number variation1nstd214human GRCh38 chr2: 46,546,457-46,546,518 , GRCh37.p13 chr2: 46,773,596-46,773,657 RHOQ
    nsv6262170copy number variation1nstd214human GRCh38 chr2: 46,546,453-46,546,518 , GRCh37.p13 chr2: 46,773,592-46,773,657 RHOQ
    nsv6262169copy number variation1nstd214human GRCh38 chr2: 46,546,451-46,546,522 , GRCh37.p13 chr2: 46,773,590-46,773,661 RHOQ
    nsv6251871mobile element insertion1nstd215human GRCh38 chr2: 46,574,350-46,574,350 , GRCh37.p13 chr2: 46,801,489-46,801,489 RHOQ, RHOQ-AS1
    nsv6166110copy number variation1nstd214human GRCh38 chr2: 46,546,467-46,546,518 , GRCh37.p13 chr2: 46,773,606-46,773,657 RHOQ
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