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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673276copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,440,000-43,780,000 , GRCh38.p12 chr22: 42,043,996-43,383,994 RPL5P34, ARFGAP3, 48 more genes
    nsv5550921copy number variation1nstd206human GRCh38 chr22: 42,272,012-42,279,289 , GRCh37.p13 chr22: 42,668,018-42,675,295 OGFRP1, TCF20
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5033874copy number variation1nstd200human GRCh38 chr22: 42,267,177-42,268,017 , GRCh37.p13 chr22: 42,663,183-42,664,023 OGFRP1, TCF20
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 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
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4619338copy number variation1nstd183human GRCh37 chr22: 42,660,881-42,892,596 , GRCh38.p12 chr22: 42,264,875-42,496,590 OGFRP1, TCF20, 3 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4351202copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,416,026-51,181,759 , GRCh38.p12 chr22: 42,020,022-50,743,331 PLXNB2, WBP2NL, 204 more genes
    nsv3924136copy number variation1nstd102humanPathogenic GRCh38 chr22: 40,202,014-50,735,806 , GRCh37 chr22: 40,598,018-51,174,234 , NCBI36 chr22: 38,927,964-49,521,100 CYP2D8P, TBC1D22A-AS1, 270 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
    nsv3919563copy number variation1nstd102humanUncertain significance GRCh38 chr22: 41,645,339-42,565,798 , NCBI36 chr22: 40,371,289-41,291,748 , GRCh37 chr22: 42,041,343-42,961,804 OLA1P1, NFAM1, 41 more genes
    nsv3919134copy number variation1nstd102humanPathogenic NCBI36 chr22: 40,806,027-49,525,130 , GRCh38 chr22: 42,080,077-50,739,836 , GRCh37 chr22: 42,476,081-51,178,264 LOC101927372, TBC1D22A, 199 more genes
    nsv3919085copy number variation1nstd102humanPathogenic NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138 IGLV2-28, LINC01310, 1023 more genes
    nsv3913775copy number variation1nstd102humanPathogenic NCBI36 chr22: 15,777,498-49,525,130 , GRCh38 chr22: 16,916,608-50,739,836 , GRCh37 chr22: 17,397,498-51,178,264 ZNF280A, RFPL1S, 1059 more genes
    nsv3912369copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,593,929-47,701,314 , GRCh38 chr22: 42,197,923-47,305,564 , NCBI36 chr22: 40,923,873-46,079,978 LOC692246, SCUBE1-AS2, 120 more genes
    nsv3912011copy number variation1nstd102humanPathogenic NCBI36 chr22: 40,597,093-49,525,130 , GRCh38 chr22: 41,871,143-50,739,836 , GRCh37 chr22: 42,267,147-51,178,264 TUBGCP6, MAPK12, 213 more genes
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