| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A>G (p.N126D) in exon 3 of MEK2 gene. | 25487361 | 2015 |
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|
C | 0.710 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. | 20358587 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. | 17981815 | 2008 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Neurological complications of cardio-facio-cutaneous syndrome. | 18039235 | 2007 |
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|
C | 0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR |