PTPN11 and Noonan syndrome: All pathogenic variants identified in our cohort of patients with Noonan syndrome and Noonan-like conditions are previously registered missense changes (the variant c.1493G>A (p.Arg498Gln) is not registered in the ClinVar database RCV002471444.1) and are located in positions that are conserved among orthologous PTPN11 genes in vertebrates.