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Items: 1 to 20 of 6257

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3873573copy number variation2nstd102humanPathogenic GRCh37 chrX: 32,235,013-32,490,446 , GRCh38 chrX: 32,216,896-32,472,329 DMD
    nsv6313068copy number variation2nstd102humanPathogenic GRCh37 chrX: 31,697,472-31,950,364 , GRCh38.p12 chrX: 31,679,355-31,932,247 DMD
    nsv4681292copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,460,274 , GRCh38.p12 chrX: 32,216,906-32,442,157 DMD
    nsv3881390copy number variation2nstd102humanPathogenic GRCh38 chrX: 32,809,493-33,020,200 , GRCh37 chrX: 32,827,610-33,038,317 DMD
    nsv6636044copy number variation2nstd102humanPathogenic GRCh37 chrX: 32,841,514-33,038,246 , GRCh38.p12 chrX: 32,823,397-33,020,129 DMD
    nsv4683858copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,430,336 , GRCh38.p12 chrX: 32,216,906-32,412,219 DMD
    nsv4681801copy number variation3nstd102humanPathogenic GRCh37 chrX: 31,792,067-31,950,354 , GRCh38.p12 chrX: 31,773,950-31,932,237 DMD
    nsv6313001copy number variation2nstd102humanPathogenic GRCh37 chrX: 31,747,728-31,838,220 , GRCh38.p12 chrX: 31,729,611-31,820,103 DMD
    nsv4682497copy number variation2nstd102humanPathogenic GRCh37 chrX: 31,747,738-31,838,210 , GRCh38.p12 chrX: 31,729,621-31,820,093 DMD
    nsv4682463copy number variation2nstd102humanPathogenic GRCh37 chr6: 162,394,324-162,475,216 , GRCh38.p12 chr6: 161,973,292-162,054,184 PRKN
    nsv5381486copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 47,630,252-47,710,088 , GRCh38.p12 chr2: 47,403,113-47,482,949 MSH2
    nsv5564428copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 232,879,638-232,952,441 , GRCh38.p12 chr2: 232,014,928-232,087,731 DIS3L2
    nsv5381352copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 69,553,299-69,614,213 , GRCh38.p12 chr2: 69,326,167-69,387,081 GFPT1
    nsv6309859copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr16: 21,689,836-21,739,772 , GRCh38.p12 chr16|NW_017852933.1: 1,376,356-1,426,322 , GRCh38.p12 chr16: 21,678,515-21,728,451 OTOA
    nsv4681697copy number variation4nstd102humanUncertain significance, Pathogenic GRCh37 chr18: 48,556,583-48,604,837 , GRCh38.p12 chr18: 51,030,213-51,078,467 SMAD4
    nsv4682344copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr14: 95,556,835-95,599,795 , GRCh38.p12 chr14: 95,090,498-95,133,458 DICER1
    nsv4453600copy number variation2nstd102humanPathogenic GRCh38 chrX: 32,809,483-32,849,830 , GRCh37 chrX: 32,827,600-32,867,947 DMD
    nsv4683438copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr11: 22,261,105-22,301,321 , GRCh38.p12 chr11: 22,239,559-22,279,775 ANO5
    nsv4682547copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 119,565,168-119,603,034 , GRCh38.p12 chrX: 120,431,313-120,469,179 LAMP2
    nsv4682001copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 29,083,885-29,121,365 , GRCh38.p12 chr22: 28,687,897-28,725,377 CHEK2
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