Gene: BRAF ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177035
rs180177035
BRAF
0.810 GeneticVariation BEFREE Two brothers with clinical features of CFC and mutations in BRAF (c.770A > G, p.Gln257Arg) are described. 29704308

2018
dbSNP: rs180177034
rs180177034
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

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

2014
dbSNP: rs180177035
rs180177035
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
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: rs180177037
rs180177037
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs397507466
rs397507466
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

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
0.810 GeneticVariation BEFREE Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. 20523244

2011
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 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

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

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 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008