Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Characterization of patients at high risk of melanoma in Austria. 26800492

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. 27680874

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients. 26999813

2016

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR A germline oncogenic MITF mutation and tumor susceptibility. 24290354

2015

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR The lack of E318K MITF germline mutation in Latvian melanoma patients. 25975176

2015

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Genotype analysis in Hungarian patients with multiple primary melanoma. 24660985

2014

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 24406078

2014

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529

2014

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 24767713

2014

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement of MITF, PTEN and CDKN2A in multiple cancerogenesis? 23802662

2013

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Genetic counseling in melanoma. 23046018

2013

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126

2013

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950

2011

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Cancer genomics: Finding a rare variant. 22158021

2011

dbSNP: rs149617956
rs149617956
A 0.700 CausalMutation CLINVAR Conformation of cytoplasmic segments of acetylcholine receptor alpha- and beta-subunits probed by monoclonal antibodies: sensitivity of the antibody competition approach. 2440678

1987

dbSNP: rs149617956
rs149617956
A 0.700 GeneticVariation CLINVAR