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Items: 1 to 20 of 687

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148280copy number variation1nstd102humanPathogenic GRCh38 chr22: 18,985,739-21,081,116 , GRCh37.p13 chr22: 18,973,252-21,435,405 SLC9A3P2, RNU6-225P, 99 more genes
    nsv7148246copy number variation2nstd102humanPathogenic GRCh37 chr22: 18,893,838-21,416,074 , GRCh38.p12 chr22: 18,339,130-21,061,785 ZDHHC8, FAM230E, 121 more genes
    nsv7148214copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,609,932-21,576,553 , GRCh38.p12 chr22: 18,339,630-21,222,264 IGLL4P, LOC107985584, 129 more genes
    nsv7137150copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,888-21,481,925 , GRCh38.p12 chr22: 18,339,130-21,127,636 LOC107985584, LINC00896, 125 more genes
    nsv7098940copy number variation1nstd102humanUncertain significance GRCh38 chr22: 20,354,589-21,405,291 , GRCh37.p13 chr22: 20,708,879-21,759,580 FAM230B, POM121L7P, 52 more genes
    nsv7098862copy number variation1nstd102humanPathogenic GRCh38 chr22: 18,206,749-21,234,326 , GRCh37.p13 chr22: 18,689,516-21,588,615 GP1BB, IGLL4P, 132 more genes
    nsv7098756copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,886-21,386,103 , GRCh38.p12 chr22: 18,339,130-21,031,814 CCDC188, MED15, 118 more genes
    nsv7093409copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,888-21,570,386 , GRCh38.p12 chr22: 18,339,130-21,216,097 FAM247A, P2RX6P, 129 more genes
    nsv7093403copy number variation1nstd102humanPathogenic GRCh37 chr22: 19,184,000-21,416,024 , GRCh38.p12 chr22: 18,339,130-21,061,735 LOC105372862, RPL7AP70, 121 more genes
    nsv7093402copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,894,078-21,414,817 , GRCh38.p12 chr22: 18,339,130-21,060,528 LOC100420103, P2RX6P, 121 more genes
    nsv7093382copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,834,445-21,414,817 , GRCh38.p12 chr22: 18,339,130-21,060,528 DGCR8, SEPTIN5, 121 more genes
    nsv7077540inversion1nstd229human GRCh38 chr22: 20,309,125-20,591,305 , GRCh37.p13 chr22: 20,296,648-20,945,592 DGCR6L, KLHL22, 14 more genes
    nsv7074274inversion1nstd229human GRCh38 chr22: 20,394,120-20,483,250 , GRCh37.p13 chr22: 20,748,410-20,837,537 ZNF74, SCARF2, 7 more genes
    nsv7071476inversion1nstd229human GRCh38 chr22: 20,281,958-20,969,535 , GRCh37.p13 chr22: 20,269,481-21,323,823 PRODHLP, RN7SL812P, 29 more genes
    nsv7030673copy number variation1nstd229human GRCh38 chr22: 20,398,416-20,406,666 , GRCh37.p13 chr22: 20,752,706-20,760,956 ZNF74
    nsv7028765copy number variation1nstd229human GRCh38 chr22: 20,408,862-20,420,771 , GRCh37.p13 chr22: 20,763,152-20,775,061 ZNF74, RNU6-225P
    nsv7024929copy number variation1nstd229human GRCh38 chr22: 20,381,090-20,395,133 , GRCh37.p13 chr22: 20,735,380-20,749,423 ZNF74, USP41P
    nsv7022805copy number variation1nstd229human GRCh38 chr22: 20,399,143-20,405,488 , GRCh37.p13 chr22: 20,753,433-20,759,778 ZNF74
    nsv6638022copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,075,592 , GRCh38.p12 chr22: 18,339,130-20,721,304 FAM230J, LOC107985588, 107 more genes
    nsv6638009copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,648,867-21,465,659 , GRCh38.p12 chr22: 18,166,100-21,111,370 KLHL22, THAP7-AS1, 130 more genes
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