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Items: 1 to 20 of 354

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7055010inversion1nstd229human GRCh38 chr2: 238,083,620-238,090,850 , GRCh37.p13 chr2: 238,992,261-238,999,491 SCLY, UBE2F-SCLY
    nsv7053948inversion1nstd229human GRCh38 chr2: 236,325,891-239,580,552 , GRCh37.p13 chr2: 237,234,534-240,502,246 PER2, MIR4269, 60 more genes
    nsv7047549inversion1nstd229human GRCh38 chr2: 236,010,287-240,118,231 , GRCh37.p13 chr2: 236,918,931-241,057,648 RAB17, COL6A3, 74 more genes
    nsv7046600inversion1nstd229human GRCh38 chr2: 237,108,675-239,672,919 , GRCh37.p13 chr2: 238,017,318-240,594,613 RBM44, MIR4440, 46 more genes
    nsv7044834inversion1nstd229human GRCh38 chr2: 238,079,323-238,084,894 , GRCh37.p13 chr2: 238,987,964-238,993,535 UBE2F-SCLY, SCLY
    nsv6718002copy number variation1nstd229human GRCh38 chr2: 238,041,301-238,796,100 , GRCh37.p13 chr2: 238,949,942-239,704,741 LOC105373963, SCLY, 18 more genes
    nsv6713092copy number variation1nstd229human GRCh38 chr2: 238,097,455-238,103,561 , GRCh37.p13 chr2: 239,006,096-239,012,202 SCLY, UBE2F-SCLY, 1 more genes
    nsv6711188copy number variation1nstd229human GRCh38 chr2: 237,829,201-238,071,700 , GRCh37.p13 chr2: 238,737,844-238,980,341 LOC105373960, SCLY, 5 more genes
    nsv6709434copy number variation1nstd229human GRCh38 chr2: 238,074,179-238,078,329 , GRCh37.p13 chr2: 238,982,820-238,986,970 UBE2F-SCLY, SCLY
    nsv6701870copy number variation1nstd229human GRCh38 chr2: 235,899,114-238,770,175 , GRCh37.p13 chr2: 236,807,758-239,678,816 RN7SL204P, RBM44, 55 more genes
    nsv6701683copy number variation1nstd229human GRCh38 chr2: 238,058,632-238,090,734 , GRCh37.p13 chr2: 238,967,273-238,999,375 SCLY, UBE2F-SCLY
    nsv6700111copy number variation1nstd229human GRCh38 chr2: 238,016,969-238,230,128 , GRCh37.p13 chr2: 238,925,611-239,138,769 ESPNL, UBE2F, 8 more genes
    nsv6637143copy number variation1nstd102humanUncertain significance GRCh37 chr2: 238,845,377-239,074,923 , GRCh38.p12 chr2: 237,936,735-238,166,282 SCLY, KLHL30, 5 more genes
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6540450inversion1nstd223human GRCh38 chr2: 238,070,470-238,071,086 , GRCh37.p13 chr2: 238,979,111-238,979,727 UBE2F-SCLY, SCLY
    nsv6538592inversion1nstd223human GRCh38 chr2: 238,074,114-238,074,646 , GRCh37.p13 chr2: 238,982,755-238,983,287 SCLY, UBE2F-SCLY
    nsv6348430copy number variation1nstd223human GRCh38 chr2: 237,953,314-241,782,040 , GRCh37.p13 chr2: 238,861,956-242,721,455 HDLBP-AS1, TWIST2, 90 more genes
    nsv6315457copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,472,789-242,783,384 , GRCh38.p12 chr2: 235,564,145-241,841,232 AGAP1, OR5S1P, 130 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 LOC105373929, LOC105373932, 204 more genes
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