| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.830 | CausalMutation | CLINVAR | ||||||
|
G | 0.830 | CausalMutation | CLINVAR | ||||||
|
T | 0.820 | GeneticVariation | CLINVAR | To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. | 10851026 | 2000 |
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|
T | 0.820 | CausalMutation | CLINVAR | ||||||
|
G | 0.820 | CausalMutation | CLINVAR | ||||||
|
C | 0.820 | CausalMutation | CLINVAR | ||||||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | FGFR-associated craniosynostosis syndromes and gastrointestinal defects. | 27481450 | 2016 |
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|
C | 0.800 | CausalMutation | CLINVAR | Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. | 27028366 | 2016 |
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|
C | 0.800 | CausalMutation | CLINVAR | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.720 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. | 25867380 | 2015 |
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|
C | 0.710 | CausalMutation | CLINVAR | We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). | 24656465 | 2014 |