Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79184941
rs79184941
0.710 GeneticVariation BEFREE FGFR2 exons 7 and 12 unlabeled DNA probes allow for easy screening of endometrial carcinoma for the 2 most common FGFR2 mutations (S252W and N550K). 21285871

2011

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 17525745

2007

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 16440883

2006

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 11390973

2001

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378

1998

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276

1996

dbSNP: rs79184941
rs79184941
0.710 CausalMutation CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995