SMAD4 and Myhre syndrome: Among the top 15 were two known pathogenic mutations—c.1486C>T (p.Arg496Cys) and c.1498A>G (p.Ile500Val) in SMAD4 ([MIM: 600993] GenBank: NM_005359.6)—which cause Myhre syndrome (MYHRS [MIM: 139210]).21