MYH9
MIM.160775 22q11.2
Pathology
germline mutations
- germline mutation in the May-Hegglin anomaly (MIM.155100)
- germline mutation in the Sebastian syndrome (MIM.605249)
- germline mutation in the Fechtner syndrome (MIM.153640)
- germline mutation in progressive hearing impairment with cochleosaccular degeneration (DFNA17) (MIM.603622)
- germline mutation in Alport-like syndrome with macrothrombocytopenia (MIM.153650)
MYH9/ALK fusion protein t(2;22)(p23;q11.2) in anaplastic large cell lymphoma (ALCL)