| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. | 25361936 | 2014 |
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|
A | 0.800 | CausalMutation | CLINVAR | FGFR1 and FGFR2 mutations in Pfeiffer syndrome. | 23348274 | 2013 |
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|
A | 0.800 | CausalMutation | 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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|
A | 0.800 | CausalMutation | CLINVAR | Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. | 10874645 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. | 9677057 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. | 9385368 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. | 8644708 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. | 8528214 | 1995 |
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|
A | 0.800 | CausalMutation | CLINVAR | Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. | 7655462 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |