| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.820 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.840 | CausalMutation | CLINVAR | ||||||
|
G | 0.820 | CausalMutation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. | 25759925 | 2015 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | Screening of patients with craniosynostosis: molecular strategy. | 12884424 | 2003 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 |
|||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.720 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
C | 0.820 | CausalMutation | CLINVAR | ||||||
|
C | 0.820 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.760 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. | 8651276 | 1996 |