Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs28933068
rs28933068
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 Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

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 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 Brain and bone abnormalities of thanatophoric dwarfism. 19098178

2009

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Significant phenotypic variability of Muenke syndrome in identical twins. 19449410

2009

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 18344207

2008

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Crouzon with acanthosis nigricans. Further delineation of the syndrome. 17935505

2008

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Achondroplasia. 18328977

2008

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Achondroplasia: from genotype to phenotype. 17950653

2008

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976

2008

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 15241680

2004

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 12707965

2003

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 10777366

2000

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Epidemiology and genetics of craniosynostosis. 10602123

2000

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006

1999

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. 10213050

1999

dbSNP: rs28933068
rs28933068
0.700 CausalMutation CLINVAR Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999