| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.710 | CausalMutation | CLINVAR | Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. | 16418739 | 2006 |
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|
C | 0.710 | CausalMutation | CLINVAR | Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. | 18391498 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | FGFR1 and FGFR2 mutations in Pfeiffer syndrome. | 23348274 | 2013 |
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|
C | 0.800 | CausalMutation | CLINVAR | We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively. | 23546041 | 2013 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |
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|
C | 0.800 | CausalMutation | CLINVAR | We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones. | 24489893 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. | 24656465 | 2014 |
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|
C | 0.800 | CausalMutation | CLINVAR | Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. | 26380986 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. | 27683237 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. | 29037998 | 2018 |