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Items: 1 to 20 of 19920

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4436066complex substitution1nstd102humanPathogenic GRCh38.p12 chr9: 78,228,782-78,244,763 , GRCh37 chr9: 80,843,698-80,859,679 CEP78
    nsv7098779complex substitution1nstd102humanPathogenic GRCh37 chr17: 41,213,079-41,215,742 , GRCh38.p12 chr17: 43,061,062-43,063,725 BRCA1
    nsv4436290complex substitution1nstd102humanPathogenic GRCh37 chr5: 112,154,359-112,155,228 , GRCh38.p12 chr5: 112,818,662-112,819,531 APC
    nsv4769399complex substitution1nstd102humanLikely pathogenic GRCh37 chrX: 29,619,835-29,843,303 , GRCh38.p12 chrX: 29,601,718-29,825,186 IL1RAPL1
    nsv4458038complex substitution1nstd102humanLikely pathogenic GRCh37 chrX: 154,156,796-154,227,925 , GRCh38.p12 chrX: 154,928,521-154,999,650 F8
    nsv6312160complex substitution1nstd102humanLikely pathogenic GRCh37 chr5: 78,241,273-78,248,429 , GRCh38.p12 chr5: 78,945,450-78,952,606 ARSB
    nsv6311531complex substitution1nstd102humanLikely pathogenic GRCh37 chr3: 33,100,045-33,100,046 , GRCh38.p12 chr3: 33,058,553-33,058,554 GLB1
    nsv6137658complex substitution1nstd102humanUncertain significance GRCh38 chr16: 88,825,006-88,836,241 , GRCh37.p13 chr16: 88,891,414-88,902,649 GALNS
    nsv4436028complex substitution1nstd102humanUncertain significance GRCh38.p12 chr2: 130,191,980-130,195,152 , GRCh37 chr2: 130,949,553-130,952,725 TUBA3E
    nsv4578249complex substitution1nstd102humandrug response GRCh37 chr5: 149,502,629-149,505,080 , GRCh38.p12 chr5: 150,123,066-150,125,517 PDGFRB
    nsv4436609complex substitution1nstd102humanUncertain significance GRCh38.p12 chr6: 29,942,825-29,944,520 , GRCh37 chr6: 29,910,602-29,912,297 HLA-A
    nsv4436389complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 248,361,844-248,362,355 , GRCh37 chr1: 248,525,146-248,525,657 , GRCh38.p12 chr1|NT_187646.1: 9,818-10,329 , GRCh38.p12 chr1|NT_187518.1: 9,818-10,329 OR2T4
    nsv4435959complex substitution1nstd102humanUncertain significance GRCh38.p12 chr4: 87,616,116-87,616,268 , GRCh37 chr4: 88,537,268-88,537,420 DSPP
    nsv4436505complex substitution1nstd102humanUncertain significance GRCh38.p12 chr4: 87,616,124-87,616,253 , GRCh37 chr4: 88,537,276-88,537,405 DSPP
    nsv510582complex substitution4nstd49human NCBI35 chr11: 70,451,029-70,566,349 , GRCh37.p13 chr11|NW_004070871.1: 471,489-671,868 , GRCh38.p12 chr11: 70,927,276-71,177,655 SHANK2
    nsv510972complex substitution1nstd49human NCBI35 chr7: 157,415,391-157,506,044 , GRCh37.p13 chr7: 157,915,915-158,006,568 , GRCh38.p12 chr7: 158,123,223-158,213,876 PTPRN2
    nsv510902complex substitution1nstd49human NCBI35 chr6: 79,009,053-79,098,805 , GRCh37.p13 chr6: 78,952,334-79,042,086 , GRCh38.p12 chr6: 78,242,617-78,332,369 LOC105377865
    nsv510890complex substitution1nstd49human NCBI35 chr4: 34,600,625-34,671,821 , GRCh37.p13 chr4|NW_003315915.1: 268,766-339,962 , GRCh37.p13 chr4: 34,778,059-34,849,255 , GRCh38.p12 chr4: 34,776,437-34,847,633 , GRCh38.p12 chr4|NW_003315915.1: 268,766-339,962 LOC105378262
    nsv510979complex substitution3nstd49human NCBI35 chr8: 27,052,200-27,119,357 , GRCh37.p13 chr8: 26,996,283-27,063,440 , GRCh38.p12 chr8: 27,138,766-27,205,923 LOC105379340
    nsv510987complex substitution1nstd49human NCBI35 chr9: 112,869,864-112,935,282 , GRCh37.p13 chr9: 115,790,309-115,855,728 , GRCh38.p12 chr9: 113,028,029-113,093,448 ZFP37
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