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Items: 1 to 20 of 28096

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4681292copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,460,274 , GRCh38.p12 chrX: 32,216,906-32,442,157 DMD
    nsv4683858copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,430,336 , GRCh38.p12 chrX: 32,216,906-32,412,219 DMD
    nsv3909454copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr12: 80,632,582-80,728,257 , GRCh38.p12 chr12: 80,238,802-80,334,477 OTOGL
    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
    nsv4457129copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr5: 89,940,237-89,999,954 , GRCh38.p12 chr5: 90,644,420-90,704,137 ADGRV1
    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
    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
    nsv6312117copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr5: 7,870,908-7,900,171 , GRCh38.p12 chr5: 7,870,795-7,900,058 MTRR
    nsv5564239copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr1: 156,083,461-156,110,880 , GRCh38.p12 chr1: 156,113,670-156,141,089 LMNA
    nsv5380909copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr13: 49,027,115-49,054,207 , GRCh38.p12 chr13: 48,452,979-48,480,071 RB1
    nsv4683305copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 17,345,376-17,371,393 , GRCh38.p12 chr1: 17,018,881-17,044,898 SDHB
    nsv3894662copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr6: 135,711,485-135,735,779 , GRCh38.p12 chr6: 135,390,347-135,414,641 AHI1
    nsv5381155copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr22: 29,083,885-29,108,015 , GRCh38.p12 chr22: 28,687,897-28,712,027 CHEK2
    nsv4452248copy number variation2nstd102humanPathogenic, Uncertain significance GRCh38 chr17: 17,213,645-17,237,188 , GRCh37 chr17: 17,116,959-17,140,502 FLCN
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