Gene: BRAF ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507476
rs397507476
BRAF
G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507476
rs397507476
BRAF
G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs397507476
rs397507476
BRAF
G 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs113488022
rs113488022
BRAF
0.040 GeneticVariation BEFREE Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population. 30043333

2018
dbSNP: rs121913377
rs121913377
BRAF
0.040 GeneticVariation BEFREE Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population. 30043333

2018
dbSNP: rs113488022
rs113488022
BRAF
0.040 GeneticVariation BEFREE Alternative BRAF mutations in BRAF V600E-negative hairy cell leukaemias. 24433452

2014
dbSNP: rs121913377
rs121913377
BRAF
0.040 GeneticVariation BEFREE Alternative BRAF mutations in BRAF V600E-negative hairy cell leukaemias. 24433452

2014
dbSNP: rs113488022
rs113488022
BRAF
0.040 GeneticVariation BEFREE We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status. 23349307

2013
dbSNP: rs121913377
rs121913377
BRAF
0.040 GeneticVariation BEFREE We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status. 23349307

2013
dbSNP: rs113488022
rs113488022
BRAF
0.040 GeneticVariation BEFREE None of the 195 patients with other peripheral B-cell lymphomas or leukemias who were evaluated carried the BRAF V600E variant, including 38 patients with splenic marginal-zone lymphomas or unclassifiable splenic lymphomas or leukemias. 21663470

2011
dbSNP: rs121913377
rs121913377
BRAF
0.040 GeneticVariation BEFREE None of the 195 patients with other peripheral B-cell lymphomas or leukemias who were evaluated carried the BRAF V600E variant, including 38 patients with splenic marginal-zone lymphomas or unclassifiable splenic lymphomas or leukemias. 21663470

2011
dbSNP: rs121913227
rs121913227
BRAF
0.020 GeneticVariation BEFREE Practical performance assessment employed 33 independent tissue samples, composed of 27 leukemias (by pyrosequencing: 8 wild-type; 18 mutated; 1 noninformative) and 6 melanomas (V600E; V600K; wild-type, 2 each). 25611237

2016
dbSNP: rs121913227
rs121913227
BRAF
0.020 GeneticVariation BEFREE In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated progression of a previously unrecognized NRAS-mutant leukemia. 24589925

2014