Gene: BRAF ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR To define the pathogenesis and to develop a potential therapeutic approach in CFC syndrome, we here generated new knockin mice (here Braf(Q241R/+)) expressing the Braf Q241R mutation, which corresponds to the most frequent mutation in CFC syndrome, Q257R. 25035421

2014
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR The perinatal presentation of cardiofaciocutaneous syndrome. 24719372

2014
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome. 24409384

2013
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. 22301711

2012
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 22495831

2012
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. 20523244

2011
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 19376813

2009
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871

2009
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507466
rs397507466
BRAF
A 0.810 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507466
rs397507466
BRAF
A 0.810 GeneticVariation CLINVAR We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. 19416762

2009
dbSNP: rs397507466
rs397507466
BRAF
G 0.810 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507466
rs397507466
BRAF
G 0.810 GeneticVariation CLINVAR We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. 19416762

2009
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. 17703371

2007
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006