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Items: 1 to 20 of 30472

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683858copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,430,336 , GRCh38.p12 chrX: 32,216,906-32,412,219 DMD
    nsv6313067copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 31,697,472-31,854,956 , GRCh38.p12 chrX: 31,679,355-31,836,839 DMD
    nsv6313234copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 7,137,717-7,268,302 , GRCh38.p12 chrX: 7,219,676-7,350,261 STS
    nsv4683362copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr6: 66,094,279-66,205,303 , GRCh38.p12 chr6: 65,384,386-65,495,410 EYS
    nsv6311933copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 51,148,987-51,255,411 , GRCh38.p12 chr2: 50,921,849-51,028,273 NRXN1
    nsv7096699copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr3: 154,801,957-154,898,248 , GRCh38.p12 chr3: 155,084,168-155,180,459 MME
    nsv3909454copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr12: 80,632,582-80,728,257 , GRCh38.p12 chr12: 80,238,802-80,334,477 OTOGL
    nsv3879671copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr4: 55,524,176-55,604,729 , GRCh38.p12 chr4: 54,658,009-54,738,563 KIT
    nsv5381486copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 47,630,252-47,710,088 , GRCh38.p12 chr2: 47,403,113-47,482,949 MSH2
    nsv7097478copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr7: 124,464,016-124,537,227 , GRCh38.p12 chr7: 124,823,962-124,897,173 POT1
    nsv5564337copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 215,593,400-215,661,851 , GRCh38.p12 chr2: 214,728,676-214,797,127 BARD1
    nsv4681614copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr15: 91,290,623-91,358,509 , GRCh38.p12 chr15: 90,747,393-90,815,279 BLM
    nsv6309413copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr12: 32,729,292-32,793,467 , GRCh38.p12 chr12: 32,576,358-32,640,533 FGD4
    nsv4682715copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr14: 45,605,235-45,669,211 , GRCh38.p12 chr14: 45,136,032-45,200,008 FANCM
    nsv4457129copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr5: 89,940,237-89,999,954 , GRCh38.p12 chr5: 90,644,420-90,704,137 ADGRV1
    nsv6311125copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr22: 30,032,730-30,090,791 , GRCh38.p12 chr22: 29,636,741-29,694,802 NF2
    nsv6309859copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr16: 21,689,836-21,739,772 , GRCh38.p12 chr16: 21,678,515-21,728,451 , GRCh38.p12 chr16|NW_017852933.1: 1,376,356-1,426,322 OTOA
    nsv4681697copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr18: 48,556,583-48,604,837 , GRCh38.p12 chr18: 51,030,213-51,078,467 SMAD4
    nsv6311705copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr4: 103,446,676-103,488,312 , GRCh38.p12 chr4: 102,525,519-102,567,155 NFKB1
    nsv4683438copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr11: 22,261,105-22,301,321 , GRCh38.p12 chr11: 22,239,559-22,279,775 ANO5
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