Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507466
rs397507466
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 GeneticVariation CLINVAR Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. 23273605

2013
dbSNP: rs121913341
rs121913341
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 GeneticVariation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs121913341
rs121913341
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121913341
rs121913341
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Targeted therapy for BRAFV600E malignant astrocytoma. 22038996

2011
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy. 22586120

2012
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.800 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		C 0.780 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004