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

dbSNP: rs121913105
rs121913105
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs28928868
rs28928868
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs28931614
rs28931614
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs397515514
rs397515514
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs78311289
rs78311289
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs28931614
rs28931614
0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2016

dbSNP: rs121918491
rs121918491
0.700 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: rs28931615
rs28931615
0.700 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: rs28931614
rs28931614
0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2013

dbSNP: rs28931614
rs28931614
0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012