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Items: 1 to 20 of 773

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148235copy number variation1nstd102humanLikely pathogenic GRCh38 chrX: 22,066,604-22,131,554 , GRCh37.p13 chrX: 22,084,722-22,149,671 PHEX
    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
    nsv7098617copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,132,585-22,140,843 , GRCh38.p12 chrX: 22,114,467-22,122,725 PHEX
    nsv7098616copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,108,527-22,151,761 , GRCh38.p12 chrX: 22,090,409-22,133,644 PHEX
    nsv7098615copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,094,486-22,132,724 , GRCh38.p12 chrX: 22,076,368-22,114,606 PHEX
    nsv7098366copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,094,486-22,115,176 , GRCh38.p12 chrX: 22,076,368-22,097,058 PHEX
    nsv7098365copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,065,148-22,117,289 , GRCh38.p12 chrX: 22,047,030-22,099,171 PHEX
    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
    nsv7098250copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,113,485-22,117,289 , GRCh38.p12 chrX: 22,095,367-22,099,171 PHEX
    nsv7098249copy number variation1nstd102humanUncertain significance GRCh37 chrX: 22,108,527-22,186,526 , GRCh38.p12 chrX: 22,090,409-22,168,409 PHEX, PHEX-AS1
    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
    nsv7098247copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,050,695-22,132,724 , GRCh38.p12 chrX: 22,032,577-22,114,606 PHEX
    nsv7098015copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,151,620-22,208,639 , GRCh38.p12 chrX: 22,133,503-22,190,522 PHEX, PHEX-AS1
    nsv7098014copy number variation1nstd102humanUncertain significance GRCh37 chrX: 22,050,695-22,051,261 , GRCh38.p12 chrX: 22,032,577-22,033,143 PHEX
    nsv7093568insertion1nstd102humanPathogenic GRCh37 chrX: 22,065,170-22,065,170 , GRCh38 chrX: 22,047,052-22,047,052 PHEX
    nsv7093287copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,186,468-22,186,740 , GRCh38 chrX: 22,168,351-22,168,623 PHEX, PHEX-AS1
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