NM_024426.4(WT1):c.1384C>T (p.Arg462Trp) | 7490 | WT1 | Pathogenic | 121907900 | RCV000003656; RCV000003657; RCV000003658; | N | MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:C1837026,OMIM:608978,ORPHA:3097 | 11 | 32413566 | 32413566 | NM_024426.4:c.1384C>T | NP_077744.3:p.Arg462Trp | NC_000011.9:g.32413566G>A | OMIM Allelic Variant:607102.0003 | C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome; C1837026 608978 Meacham syndrome | | |
NM_024426.4(WT1):c.1300C>T (p.Arg434Cys) | 7490 | WT1 | Pathogenic | 121907910 | RCV000003680; | N | MedGen:C1837026,OMIM:608978,ORPHA:3097 | 11 | 32414251 | 32414251 | NM_024426.4:c.1300C>T | NP_077744.3:p.Arg434Cys | NC_000011.9:g.32414251G>A | OMIM Allelic Variant:607102.0026 | C1837026 608978 Meacham syndrome | | |