NM_000141.4(FGFR2):c.1576A>G (p.Lys526Glu) | 2263 | FGFR2 | Pathogenic | 121918507 | RCV000014220; RCV000014221; | N | MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C1865070,OMIM:609579,ORPHA:168624 | 10 | 123258105 | 123258105 | NM_000141.4:c.1576A>G | NP_000132.3:p.Lys526Glu | NC_000010.10:g.123258105T>C | OMIM Allelic Variant:176943.0034 | C0010273 123500 Crouzon syndrome; C1865070 609579 Scaphocephaly, maxillary retrusion, and mental retardation | | |