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

2016

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding. 27568649

2016

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. 22872265

2012

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2011

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes. 20707699

2010

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. 18818193

2009

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. 19086028

2009

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01). 18000976

2007

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

2005

dbSNP: rs4647924
rs4647924
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
0.800 GeneticVariation BEFREE New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis. 11467490

2001

dbSNP: rs4647924
rs4647924
G 0.800 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. 10914960

2000

dbSNP: rs4647924
rs4647924
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
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
0.800 GeneticVariation BEFREE The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. 9107244

1997

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997

dbSNP: rs4647924
rs4647924
0.800 GeneticVariation BEFREE The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R. 9279764

1997

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

2011

dbSNP: rs78311289
rs78311289
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: rs78311289
rs78311289
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
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
0.720 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999

dbSNP: rs78311289
rs78311289
0.720 GeneticVariation BEFREE Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated. 9677066

1998

dbSNP: rs121918487
rs121918487
0.710 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902

2017