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Items: 1 to 20 of 437

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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
    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
    nsv7073271inversion1nstd229human GRCh38 chr22: 49,372,994-49,993,828 , GRCh37.p13 chr22: 49,768,897-50,432,257 IL17REL, LOC105373091, 12 more genes
    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
    nsv7025064copy number variation1nstd229human GRCh38 chr22: 49,909,543-49,917,745 , GRCh37.p13 chr22: 50,303,191-50,311,393 ALG12, CRELD2
    nsv7023512copy number variation1nstd229human GRCh38 chr22: 49,927,299-49,929,402 , GRCh37.p13 chr22: 50,320,947-50,323,050 CRELD2
    nsv7020561copy number variation1nstd229human GRCh38 chr22: 49,922,290-49,922,329 , GRCh37.p13 chr22: 50,315,938-50,315,977 CRELD2
    nsv6638073copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,436,847-51,188,164 , GRCh38.p12 chr22: 43,040,841-50,749,736 SCUBE1-AS1, MIR6821, 165 more genes
    nsv6637969copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,178,749-51,183,840 , GRCh38.p12 chr22: 43,782,869-50,745,412 LOC105373081, RPL35AP36, 148 more genes
    nsv6637767copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,390,702-51,137,629 , GRCh38.p12 chr22: 43,994,822-50,699,201 RN7SKP252, CDPF1, 139 more genes
    nsv6637710copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,448-51,197,838 , GRCh38.p12 chr22: 45,581,568-50,759,410 PKDREJ, MAPK11, 110 more genes
    nsv6637484copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,415-51,183,840 , GRCh38.p12 chr22: 45,581,535-50,745,412 MIR6821, LOC105373086, 108 more genes
    nsv6637355copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,889,148-51,197,838 , GRCh38.p12 chr22: 45,493,268-50,759,410 LOC105373068, SYCE3, 111 more genes
    nsv6535590copy number variation1nstd223human GRCh38 chr22: 48,991,693-50,757,224 , GRCh37.p13 chr22: 49,387,505-51,195,652 CHKB-CPT1B, LOC105373096, 57 more genes
    nsv6315554copy number variation1nstd102humanPathogenic GRCh37 chr22: 49,602,454-51,183,869 , GRCh38.p12 chr22: 49,206,528-50,745,441 KLHDC7B-DT, MAPK11, 53 more genes
    nsv6315282copy number variation1nstd102humanPathogenic GRCh38 chr22: 49,883,237-50,740,457 , GRCh37.p13 chr22: 50,276,885-51,178,885 RN7SL500P, IL17REL, 44 more genes
    nsv6314059copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,972,719-51,197,838 , GRCh38.p12 chr22: 42,576,713-50,759,410 TRABD, LOC100422416, 181 more genes
    nsv6314044copy number variation1nstd102humanUncertain significance GRCh37 chr22: 49,976,054-50,346,635 , GRCh38.p12 chr22: 49,582,406-49,952,987 ALG12, LOC105377205, 8 more genes
    nsv6313937copy number variation1nstd102humanPathogenic GRCh37 chr22: 49,729,747-51,197,838 , GRCh38.p12 chr22: 49,333,822-50,759,410 LOC150417, ARSA, 54 more genes
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