Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918507
rs121918507
0.710 CausalMutation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2006

dbSNP: rs121918507
rs121918507
0.710 GeneticVariation BEFREE We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. 15523492

2005

dbSNP: rs121918507
rs121918507
0.710 CausalMutation CLINVAR A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 15523492

2005