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Items: 1 to 20 of 941

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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
    nsv7142944insertion1nstd232human GRCh37.p13 chr22: 50,835,998-50,835,998 , GRCh38.p12 chr22: 50,397,569-50,397,569 PPP6R2
    nsv7141086copy number variation1nstd232human GRCh37.p13 chr22: 50,819,729-50,819,860 , GRCh38.p12 chr22: 50,381,300-50,381,431 PPP6R2
    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
    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
    nsv7036743copy number variation1nstd229human GRCh38 chr22: 50,392,645-50,396,349 , GRCh37.p13 chr22: 50,831,074-50,834,778 PPP6R2
    nsv7035934copy number variation1nstd229human GRCh38 chr22: 50,316,944-50,553,636 , GRCh37.p13 chr22: 50,755,373-50,992,065 SCO2, CIMAP1B, 15 more genes
    nsv7034142copy number variation1nstd229human GRCh38 chr22: 50,413,901-50,416,200 , GRCh37.p13 chr22: 50,852,330-50,854,629 PPP6R2
    nsv7033075copy number variation1nstd229human GRCh38 chr22: 49,877,724-50,553,749 , GRCh37.p13 chr22: 50,271,372-50,992,178 SELENOO-AS1, MOV10L1, 33 more genes
    nsv7032497copy number variation1nstd229human GRCh38 chr22: 50,388,843-50,399,222 , GRCh37.p13 chr22: 50,827,272-50,837,651 PPP6R2
    nsv7031548copy number variation1nstd229human GRCh38 chr22: 50,441,036-50,464,290 , GRCh37.p13 chr22: 50,879,465-50,902,719 PPP6R2, SBF1
    nsv7031006copy number variation1nstd229human GRCh38 chr22: 50,348,386-50,353,938 , GRCh37.p13 chr22: 50,786,815-50,792,367 PPP6R2
    nsv7028625copy number variation1nstd229human GRCh38 chr22: 50,369,676-50,376,066 , GRCh37.p13 chr22: 50,808,105-50,814,495 RN7SL500P, PPP6R2
    nsv7027943copy number variation1nstd229human GRCh38 chr22: 50,404,551-50,409,547 , GRCh37.p13 chr22: 50,842,980-50,847,976 MIR12114, PPP6R2
    nsv7026362copy number variation1nstd229human GRCh38 chr22: 50,370,601-50,371,700 , GRCh37.p13 chr22: 50,809,030-50,810,129 PPP6R2, RN7SL500P
    nsv7026159copy number variation1nstd229human GRCh38 chr22: 50,393,601-50,400,100 , GRCh37.p13 chr22: 50,832,030-50,838,529 PPP6R2
    nsv7024481copy number variation1nstd229human GRCh38 chr22: 50,438,301-50,518,200 , GRCh37.p13 chr22: 50,876,730-50,956,629 LMF2, MIOX, 4 more genes
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