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Items: 1 to 20 of 571

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148281copy number variation1nstd102humanPathogenic GRCh38 chr22: 49,757,859-50,740,457 , GRCh37.p13 chr22: 50,151,507-51,178,885 CHKB-CPT1B, ADM2, 49 more genes
    nsv7148150copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,014,114-51,244,066 , GRCh38.p12 chr22: 49,620,466-50,805,638 MAPK11, KLHDC7B-DT, 54 more genes
    nsv7144850copy number variation1nstd232human GRCh37.p13 chr22: 50,662,849-50,662,938 , GRCh38.p12 chr22: 50,224,420-50,224,509 TUBGCP6
    nsv7141989insertion1nstd232human GRCh37.p13 chr22: 50,673,692-50,673,692 , GRCh38.p12 chr22: 50,235,263-50,235,263 TUBGCP6
    nsv7141504copy number variation1nstd232human GRCh37.p13 chr22: 50,664,005-50,664,064 , GRCh38.p12 chr22: 50,225,576-50,225,635 TUBGCP6
    nsv7098685copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,659,166-50,659,167 , GRCh38 chr22: 50,220,737-50,220,738 TUBGCP6
    nsv7096360copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,678,613-50,678,816 , GRCh38.p12 chr22: 50,240,184-50,240,387 TUBGCP6
    nsv7096359copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,656,165-50,663,041 , GRCh38.p12 chr22: 50,217,736-50,224,612 SELENOO, TUBGCP6
    nsv7096316copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,297,486-51,066,207 , GRCh38.p12 chr22: 49,903,838-50,627,779 RN7SL500P, DENND6B, 39 more genes
    nsv7096189copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,678,613-50,682,888 , GRCh38.p12 chr22: 50,240,184-50,244,459 HDAC10, TUBGCP6
    nsv7096188copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,659,287-50,697,352 , GRCh38.p12 chr22: 50,220,858-50,258,923 MAPK12, TUBGCP6, 1 more genes
    nsv7093335copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,658,980-50,659,222 , GRCh38 chr22: 50,220,551-50,220,793 TUBGCP6
    nsv7093320copy number variation1nstd102humanUncertain significance GRCh38 chr22: 50,220,715-50,220,795 , GRCh37 chr22: 50,659,144-50,659,224 TUBGCP6
    nsv7093297copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,659,267-50,659,347 , GRCh38 chr22: 50,220,838-50,220,918 TUBGCP6
    nsv7093039copy number variation1nstd102humanUncertain significance GRCh38 chr22: 50,220,735-50,220,977 , GRCh37 chr22: 50,659,164-50,659,406 TUBGCP6
    nsv7074055inversion1nstd229human GRCh38 chr22: 50,153,100-50,445,127 , GRCh37.p13 chr22: 50,591,529-50,883,556 MOV10L1, PPP6R2, 14 more genes
    nsv7072051inversion1nstd229human GRCh38 chr22: 50,113,931-50,539,094 , GRCh37.p13 chr22: 50,552,360-50,977,523 NCAPH2, PPP6R2, 21 more genes
    nsv7059794inversion1nstd229human GRCh38 chr22: 50,156,227-50,492,045 , GRCh37.p13 chr22: 50,594,656-50,930,474 ADM2, PLXNB2, 16 more genes
    nsv7038040copy number variation1nstd229human GRCh38 chr22: 50,236,198-50,238,544 , GRCh37.p13 chr22: 50,674,627-50,676,973 TUBGCP6
    nsv7034768copy number variation1nstd229human GRCh38 chr22: 50,225,372-50,256,177 , GRCh37.p13 chr22: 50,663,801-50,694,606 TUBGCP6, MAPK12, 1 more genes
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