Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24168007

2015

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

2013

dbSNP: rs4647924
rs4647924
0.900 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

2012

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2011

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. 20592905

2010

dbSNP: rs4647924
rs4647924
0.900 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
0.900 CausalMutation CLINVAR Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. 19215249

2009

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. 19215249

2009

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449

2007

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 15241680

2004

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 14613973

2004

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2002

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2002

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 11424131

2001

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999

dbSNP: rs4647924
rs4647924
0.900 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
0.900 CausalMutation CLINVAR Deafness due to Pro250Arg mutation of FGFR3. 9525367

1998

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation BEFREE Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 9600744

1998

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 9580776

1998

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 9600744

1998

dbSNP: rs4647924
rs4647924
0.900 GeneticVariation UNIPROT Deafness due to Pro250Arg mutation of FGFR3. 9525367

1998

dbSNP: rs4647924
rs4647924
0.900 CausalMutation CLINVAR Nonpenetrance in FGFR3-associated coronal synostosis syndrome. 9843059

1998