Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913369
rs121913369
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs121913369
rs121913369
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs121913369
rs121913369
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 23715574

2013
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		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: rs121913369
rs121913369
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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: rs121913369
rs121913369
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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: rs121913369
rs121913369
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		C 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		C 0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs121913369
rs121913369
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs121913369
rs121913369
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009