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Items: 1 to 20 of 682

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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
    nsv7141287copy number variation1nstd232human GRCh37.p13 chr22: 50,305,705-50,305,757 , GRCh38.p12 chr22: 49,912,057-49,912,109 ALG12
    nsv7140654insertion1nstd232human GRCh37.p13 chr22: 50,295,406-50,295,406 , GRCh38.p12 chr22: 49,901,758-49,901,758 ALG12
    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
    nsv7095842copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,297,486-50,307,413 , GRCh38.p12 chr22: 49,903,838-49,913,765 ALG12
    nsv7093155copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 50,304,063-50,304,112 , GRCh38 chr22: 49,910,415-49,910,464 ALG12
    nsv7073271inversion1nstd229human GRCh38 chr22: 49,372,994-49,993,828 , GRCh37.p13 chr22: 49,768,897-50,432,257 IL17REL, LOC105373091, 12 more genes
    nsv7066393inversion1nstd229human GRCh38 chr22: 49,880,900-49,882,471 , GRCh37.p13 chr22: 50,274,548-50,276,119 ALG12, ZBED4
    nsv7060307inversion1nstd229human GRCh38 chr22: 49,621,529-49,888,455 , GRCh37.p13 chr22: 50,015,177-50,282,103 BRD1, ALG12, 7 more genes
    nsv7036248copy number variation1nstd229human GRCh38 chr22: 49,879,045-49,890,943 , GRCh37.p13 chr22: 50,272,693-50,284,591 ZBED4, ALG12
    nsv7033947copy number variation1nstd229human GRCh38 chr22: 49,874,942-49,880,435 , GRCh37.p13 chr22: 50,268,590-50,274,083 ZBED4, ALG12
    nsv7033315copy number variation1nstd229human GRCh38 chr22: 49,903,597-49,903,889 , GRCh37.p13 chr22: 50,297,245-50,297,537 ALG12
    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
    nsv7031490copy number variation1nstd229human GRCh38 chr22: 49,891,127-49,891,219 , GRCh37.p13 chr22: 50,284,775-50,284,867 ALG12
    nsv7028347copy number variation1nstd229human GRCh38 chr22: 49,857,204-49,861,735 , GRCh37.p13 chr22: 50,250,852-50,255,383 ALG12, ZBED4
    nsv7027620copy number variation1nstd229human GRCh38 chr22: 49,860,841-49,865,073 , GRCh37.p13 chr22: 50,254,489-50,258,721 ZBED4, ALG12
    nsv7025064copy number variation1nstd229human GRCh38 chr22: 49,909,543-49,917,745 , GRCh37.p13 chr22: 50,303,191-50,311,393 ALG12, CRELD2
    nsv7023876copy number variation1nstd229human GRCh38 chr22: 49,908,309-49,908,359 , GRCh37.p13 chr22: 50,301,957-50,302,007 ALG12
    nsv7022698copy number variation1nstd229human GRCh38 chr22: 49,878,277-49,878,352 , GRCh37.p13 chr22: 50,271,925-50,272,000 ALG12, ZBED4
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