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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096310copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,097,373-39,306,081 , GRCh38.p12 chr22: 37,701,366-38,910,076 TMEM184B, ANKRD54, 46 more genes
    nsv7096308copy number variation1nstd102humanUncertain significance GRCh37 chr22: 35,776,672-42,486,826 , GRCh38.p12 chr22: 35,380,679-42,090,822 CDC42EP1, SREBF2, 231 more genes
    nsv7095836copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 37,154,355-39,148,633 , GRCh38.p12 chr22: 36,758,311-38,752,628 CSF2RBP1, H1-0, 80 more genes
    nsv7078067inversion1nstd229human GRCh38 chr22: 30,287,061-38,012,264 , GRCh37.p13 chr22: 30,683,050-38,408,271 LINC02885, RN7SL20P, 203 more genes
    nsv7072766inversion1nstd229human GRCh38 chr22: 35,603,617-39,341,195 , GRCh37.p13 chr22: 35,999,664-39,737,200 APOL5, MTATP6P20, 132 more genes
    nsv7064066inversion1nstd229human GRCh38 chr22: 34,920,312-39,418,308 , GRCh37.p13 chr22: 35,316,302-39,814,313 LOC112268295, APOBEC3B-AS1, 150 more genes
    nsv7061959inversion1nstd229human GRCh38 chr22: 36,818,005-44,993,640 , GRCh37.p13 chr22: 37,214,049-45,389,520 SMIM45, A4GALT, 271 more genes
    nsv7059210inversion1nstd229human GRCh38 chr22: 35,603,611-39,337,136 , GRCh37.p13 chr22: 35,999,658-39,733,141 MTCO2P20, RPS29P31, 132 more genes
    nsv7025536copy number variation1nstd229human GRCh38 chr22: 37,287,222-37,834,908 , GRCh37.p13 chr22: 37,683,263-38,230,915 GGA1, GALR3, 19 more genes
    nsv6540218copy number variation1nstd223human GRCh38 chr22: 37,287,222-37,834,905 , GRCh37.p13 chr22: 37,683,263-38,230,912 GALR3, LOC102724378, 19 more genes
    nsv6313943copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,116,341-38,369,048 , GRCh38.p12 chr22: 37,720,334-37,973,041 H1-0, POLR2F, 13 more genes
    nsv6134213copy number variation1nstd213human GRCh37 chr22: 37,470,000-39,980,001 , GRCh38.p12 chr22: 37,073,960-39,583,996 ATF4, COX5BP7, 98 more genes
    nsv6134212copy number variation1nstd213human GRCh37 chr22: 36,430,000-39,960,001 , GRCh38.p12 chr22: 36,033,952-39,563,996 ATF4, COX5BP7, 133 more genes
    nsv5711129mobile element insertion1nstd211human GRCh38 chr22: 37,824,054-37,824,054 , GRCh37.p13 chr22: 38,220,061-38,220,061 GALR3
    nsv5425615mobile element insertion1nstd206human GRCh38 chr22: 37,824,054-37,824,105 , GRCh37.p13 chr22: 38,220,061-38,220,112 GALR3
    nsv5200376copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,155,164-38,541,997 , GRCh38.p12 chr22: 37,759,157-38,145,990 H1-0, PLA2G6, 18 more genes
    nsv4887409copy number variation1nstd200human GRCh37 chr22: 38,216,871-38,217,412 , GRCh38.p12 chr22: 37,820,864-37,821,405 GALR3
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676116copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,002,218-38,973,070 , GRCh38.p12 chr22: 37,606,211-38,577,065 CSNK1E, RN7SL704P, 43 more genes
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