Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. 15915095

2005
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively. 14613973

2004
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 10094188

1999
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.800 CausalMutation CLINVAR A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914

1997