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Items: 1 to 20 of 326

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130776insertion1nstd186human GRCh37 chr12: 88,520,876-88,520,922 , GRCh38.p12 chr12: 88,127,099-88,127,145 CEP290
    nsv5972067insertion1nstd209human GRCh38 chr12: 88,127,094-88,127,094 , GRCh37.p13 chr12: 88,520,871-88,520,871 CEP290
    nsv5946745copy number variation1nstd209human GRCh38 chr12: 88,054,986-88,055,099 , GRCh37.p13 chr12: 88,448,763-88,448,876 CEP290
    nsv5854658copy number variation1nstd209human GRCh38 chr12: 88,057,748-88,059,837 , GRCh37.p13 chr12: 88,451,525-88,453,614 LOC100420011, CEP290
    nsv5699051mobile element insertion1nstd211human GRCh38 chr12: 88,068,357-88,068,357 , GRCh37.p13 chr12: 88,462,134-88,462,134 CEP290
    nsv5697255mobile element insertion2nstd211human GRCh38 chr12: 88,125,867-88,125,867 , GRCh37.p13 chr12: 88,519,644-88,519,644 CEP290
    nsv5672794copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,512,250-88,519,156 , GRCh38.p12 chr12: 88,118,473-88,125,379 CEP290
    nsv5651813insertion1nstd207human GRCh38 chr12: 88,127,094-88,127,094 , GRCh37.p13 chr12: 88,520,871-88,520,871 CEP290
    nsv5542636insertion1nstd206human GRCh38 chr12: 88,127,099-88,127,145 , GRCh37.p13 chr12: 88,520,876-88,520,922 CEP290
    nsv5501409copy number variation1nstd206human GRCh38 chr12: 88,130,564-88,130,627 , GRCh37.p13 chr12: 88,524,341-88,524,404 CEP290
    nsv5433145mobile element insertion1nstd206human GRCh38 chr12: 88,125,867-88,125,918 , GRCh37.p13 chr12: 88,519,644-88,519,695 CEP290
    nsv5380964copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,961-88,449,494 , GRCh38.p12 chr12: 88,049,184-88,055,717 RLIG1, RNA5SP364, 1 more genes
    nsv5380742copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,955-88,449,500 , GRCh38.p12 chr12: 88,049,178-88,055,723 RNA5SP364, CEP290, 1 more genes
    nsv5356215translocation1nstd200human GRCh38 chr12: 88,085,113-88,085,113 , GRCh38 chr12: 88,084,959-88,084,959 , GRCh37.p13 chr12: 88,478,736-88,478,736 , GRCh37.p13 chr12: 88,478,890-88,478,890 CEP290
    nsv5131205mobile element insertion1nstd203human GRCh38 chr12: 88,125,851-88,125,867 , GRCh37.p13 chr12: 88,519,628-88,519,644 CEP290
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5032581inversion1nstd200human GRCh38 chr12: 67,763,754-90,678,993 , GRCh37.p13 chr12: 68,157,534-91,072,770 , LOC105369886, 255 more genes
    nsv4993527copy number variation1nstd200human GRCh38 chr12: 88,047,969-88,320,571 , GRCh37.p13 chr12: 88,441,746-88,714,348 TMTC3, RNA5SP364, 4 more genes
    nsv4989712copy number variation1nstd200human GRCh38 chr12: 88,056,393-88,060,519 , GRCh37.p13 chr12: 88,450,170-88,454,296 CEP290, LOC100420011
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