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Items: 1 to 20 of 2346

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148076copy number variation1nstd102humanPathogenic GRCh37 chrX: 23,184,159-23,428,291 , GRCh38.p12 chrX: 23,166,042-23,410,174 PTCHD1, PDCL2P1, 2 more genes
    nsv7146641insertion1nstd232human GRCh37.p13 chrX: 22,917,137-22,917,137 , GRCh38.p12 chrX: 22,899,020-22,899,020 PTCHD1-AS
    nsv7137631insertion1nstd232human GRCh37.p13 chrX: 22,243,064-22,243,064 , GRCh38.p12 chrX: 22,224,947-22,224,947 PHEX, PTCHD1-AS
    nsv7137454insertion1nstd232human GRCh37.p13 chrX: 22,243,103-22,243,103 , GRCh38.p12 chrX: 22,224,986-22,224,986 PHEX, PTCHD1-AS
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098714copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,151,742-22,231,020 , GRCh38.p12 chrX: 22,133,625-22,212,903 PHEX, PTCHD1-AS, 1 more genes
    nsv7098618copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,263,430-22,263,546 , GRCh38.p12 chrX: 22,245,313-22,245,429 PHEX, PTCHD1-AS
    nsv7098364copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,050,695-22,266,301 , GRCh38.p12 chrX: 22,032,577-22,248,184 PHEX, PTCHD1-AS, 1 more genes
    nsv7098248copy number variation1nstd102humanUncertain significance GRCh37 chrX: 22,056,567-22,266,301 , GRCh38.p12 chrX: 22,038,449-22,248,184 PHEX-AS1, PTCHD1-AS, 1 more genes
    nsv7086101copy number variation1nstd229human GRCh38 chrX: 19,663,657-28,237,068 , GRCh37.p13 chrX: 19,681,775-28,255,185 MAGEB18, RPS6KA3, 89 more genes
    nsv7085539copy number variation1nstd229human GRCh38 chrX: 15,461,305-24,177,792 , GRCh37.p13 chrX: 15,479,428-24,195,909 LOC105373146, PIR-FIGF, 104 more genes
    nsv7080542copy number variation1nstd229human GRCh38 chrX: 23,290,899-23,291,072 , GRCh37.p13 chrX: 23,309,016-23,309,189 PTCHD1-AS
    nsv7080541copy number variation1nstd229human GRCh38 chrX: 23,286,001-23,286,101 , GRCh37.p13 chrX: 23,304,118-23,304,218 PTCHD1-AS
    nsv7080540copy number variation1nstd229human GRCh38 chrX: 23,278,501-23,284,100 , GRCh37.p13 chrX: 23,296,618-23,302,217 PTCHD1-AS
    nsv7080539copy number variation1nstd229human GRCh38 chrX: 23,277,868-23,283,628 , GRCh37.p13 chrX: 23,295,985-23,301,745 PTCHD1-AS
    nsv7080538copy number variation1nstd229human GRCh38 chrX: 23,277,398-23,288,090 , GRCh37.p13 chrX: 23,295,515-23,306,207 PTCHD1-AS
    nsv7080537copy number variation1nstd229human GRCh38 chrX: 23,256,501-23,266,000 , GRCh37.p13 chrX: 23,274,618-23,284,117 PTCHD1-AS
    nsv7080536copy number variation1nstd229human GRCh38 chrX: 23,235,250-23,308,191 , GRCh37.p13 chrX: 23,253,367-23,326,308 PTCHD1-AS
    nsv7080535copy number variation1nstd229human GRCh38 chrX: 23,204,191-23,216,862 , GRCh37.p13 chrX: 23,222,308-23,234,979 PTCHD1-AS
    nsv7080534copy number variation1nstd229human GRCh38 chrX: 23,199,621-23,204,117 , GRCh37.p13 chrX: 23,217,738-23,222,234 PTCHD1-AS
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