Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
FGFR3
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
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
dbSNP: rs4647924
rs4647924
FGFR3
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
G 0.800 CausalMutation CLINVAR FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. 15915095

2005
dbSNP: rs4647924
rs4647924
FGFR3
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
G 0.800 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016
dbSNP: rs78311289
rs78311289
FGFR3
C 0.720 CausalMutation CLINVAR Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009

2011
dbSNP: rs78311289
rs78311289
FGFR3
C 0.720 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
dbSNP: rs78311289
rs78311289
FGFR3
C 0.720 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006
dbSNP: rs78311289
rs78311289
FGFR3
C 0.720 CausalMutation CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470

2010
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390

2008
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
dbSNP: rs121918487
rs121918487
FGFR2
G 0.710 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.710 CausalMutation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518817
rs1057518817
NPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520044
rs1057520044
FGFR2
C 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs1060499549
rs1060499549
ZNF462
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499550
rs1060499550
ZNF462
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499551
rs1060499551
ZNF462
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183

2016