Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2016

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2016

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2016

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

2016

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2015

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288

2015

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288

2015

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2015

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288

2015

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2015

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942

2014

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942

2014

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942

2014

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

2013

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035

2013

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035

2013

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

2013

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035

2013

dbSNP: rs4647924
rs4647924
0.700 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

2013

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

dbSNP: rs28931615
rs28931615
0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012