Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. | 25271085 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. | 20133659 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. | 8755573 | 1996 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 |
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A | 0.700 | CausalMutation | CLINVAR | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. | 22558232 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | First-trimester prenatal diagnosis of Crouzon syndrome. | 8650126 | 1996 |
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G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. | 15316116 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |