NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) | 4627 | MYH9 | Pathogenic | 80338831 | RCV000015134; RCV000015135; RCV000015137; RCV000015136; RCV000032222; | N | MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1834478,OMIM:600208,ORPHA:182050; MedGen:C1854520,OMIM:605249; MedGen:CN073381 | 22 | 36688106 | 36688106 | NM_002473.5:c.4270G>A | NP_002464.1:p.Asp1424Asn | NC_000022.10:g.36688106C>A,NC_000022.10:g.36688106C>G,NC_000022.10:g.36688106C>T | OMIM Allelic Variant:160775.0010 | C0403445 153640 Fechtner syndrome; C1834478 600208 Macrothrombocytopenia and progressive sensorineural deafness; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome | | |