Gene: BRAF ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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
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: 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: rs180177040
rs180177040
BRAF
C 0.800 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR The perinatal presentation of cardiofaciocutaneous syndrome. 24719372

2014
dbSNP: rs121913369
rs121913369
BRAF
C 0.700 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241

2012
dbSNP: rs180177040
rs180177040
BRAF
C 0.800 CausalMutation CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001

2013
dbSNP: rs397507473
rs397507473
BRAF
G 0.800 CausalMutation CLINVAR Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer. 17496923

2007
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 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: 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 Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 22495831

2012
dbSNP: rs397507484
rs397507484
BRAF
G 0.700 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: rs180177036
rs180177036
BRAF
G 0.800 CausalMutation CLINVAR p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. 18953432

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: rs180177036
rs180177036
BRAF
A 0.800 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
dbSNP: rs180177040
rs180177040
BRAF
C 0.800 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
dbSNP: rs397507483
rs397507483
BRAF
A 0.800 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
dbSNP: rs397507475
rs397507475
BRAF
G 0.710 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
dbSNP: rs180177039
rs180177039
BRAF
A 0.700 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007