Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
0.740 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs4647924
rs4647924
0.740 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016

dbSNP: rs4647924
rs4647924
0.740 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs4647924
rs4647924
0.740 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
0.740 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
0.740 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000

dbSNP: rs4647924
rs4647924
0.740 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
0.740 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
0.740 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997

dbSNP: rs4647924
rs4647924
0.740 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
0.740 GeneticVariation BEFREE Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 9279764

1997