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Items: 1 to 20 of 286

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5958899copy number variation1nstd209human GRCh38 chr22: 22,653,852-24,634,860 , GRCh37.p13 chr22: 22,996,322-25,030,827 , LOC105372957, 122 more genes
    nsv5956621copy number variation1nstd209human GRCh38 chr22: 22,621,614-24,637,144 , GRCh37.p13 chr22: 22,964,084-25,033,111 , IGLV2-5, 125 more genes
    nsv5542984copy number variation1nstd206human GRCh38 chr22: 22,833,000-23,312,782 , GRCh37.p13 chr22: 23,175,176-23,654,969 IGLJ1, RAB36, 36 more genes
    nsv5540075copy number variation1nstd206human GRCh38 chr22: 23,161,231-23,161,907 , GRCh37.p13 chr22: 23,503,418-23,504,094 RAB36, RSPH14
    nsv5375618translocation1nstd200human GRCh38 chr22: 23,154,024-23,154,024 , GRCh38 chr22: 23,153,186-23,153,186 , GRCh37.p13 chr22: 23,496,211-23,496,211 , GRCh37.p13 chr22: 23,495,373-23,495,373 RSPH14, RAB36
    nsv5375617translocation1nstd200human GRCh38 chr22: 23,153,178-23,153,178 , GRCh38 chr22: 23,154,605-23,154,605 , GRCh37.p13 chr22: 23,495,365-23,495,365 , GRCh37.p13 chr22: 23,496,792-23,496,792 RAB36, RSPH14
    nsv5334159translocation1nstd200human GRCh37 chr22: 23,496,792-23,496,792 , GRCh37 chr22: 23,495,365-23,495,365 , GRCh38.p12 chr22: 23,154,605-23,154,605 , GRCh38.p12 chr22: 23,153,178-23,153,178 RSPH14, RAB36
    nsv5187100mobile element insertion1nstd203human GRCh38 chr22: 23,158,197-23,158,209 , GRCh37.p13 chr22: 23,500,384-23,500,396 RSPH14, RAB36
    nsv5037923copy number variation1nstd200human GRCh38 chr22: 23,166,010-23,174,782 , GRCh37.p13 chr22: 23,508,197-23,516,969 RSPH14, RAB36
    nsv5032381copy number variation1nstd200human GRCh38 chr22: 23,129,641-23,153,642 , GRCh37.p13 chr22: 23,471,828-23,495,829 RSPH14, RAB36, 1 more genes
    nsv5030747copy number variation1nstd200human GRCh38 chr22: 22,073,315-23,302,980 , GRCh37.p13 chr22: 22,427,726-23,645,167 , IGLV6-57, 124 more genes
    nsv4869161copy number variation1nstd200human GRCh37 chr22: 23,503,900-23,503,980 , GRCh38.p12 chr22: 23,161,713-23,161,793 RSPH14, RAB36
    nsv4768383copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-26,483,608 , GRCh38.p12 chr22: 16,408,173-26,087,642 KRT18P62, LOC101060852, 437 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729872copy number variation1nstd102humanPathogenic GRCh37 chr22: 23,258,368-25,059,827 , GRCh38.p12 chr22: 22,916,198-24,663,860 LOC105372957, RAB36, 71 more genes
    nsv4729862copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,798,906-23,805,099 , GRCh38.p12 chr22: 21,444,617-23,462,912 LL22NC03-63E9.3, IGLC4, 158 more genes
    nsv4729829copy number variation1nstd102humanUncertain significance GRCh37 chr22: 22,898,364-23,653,963 , GRCh38.p12 chr22: 22,555,943-23,311,776 IGLJ5, LOC100287966, 75 more genes
    nsv4679621copy number variation1nstd189human GRCh37.p13 chr22: 23,008,722-25,047,777 , GRCh38.p12 chr22: 22,666,252-24,651,810 , ADORA2A, 120 more genes
    nsv4676286copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,465,661-23,666,232 , GRCh38.p12 chr22: 21,111,372-23,324,045 MIR650, IGLV4-3, 167 more genes
    nsv4676279copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 22,953,514-25,002,483 , GRCh38.p12 chr22: 22,611,044-24,606,516 ADORA2A, ASLP1, 122 more genes
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