Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75996173
rs75996173
RET
C 0.730 CausalMutation CLINVAR Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. 28099363

2017
dbSNP: rs75996173
rs75996173
RET
0.730 GeneticVariation BEFREE The present study identified the clinical features of the largest multiple endocrine neoplasia type 2 (MEN2) A pedigree from China, with a novel double missense <i>rearranged during transfection (RET)</i> mutation (C634Y/D707E). 28943896

2017
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634). 24684035

2015
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR High Discrepancy of Driver Mutations in Patients with NSCLC and Synchronous Multiple Lung Ground-Glass Nodules. 25629635

2015
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese. 25628771

2015
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? 25440022

2015
dbSNP: rs75996173
rs75996173
RET
C 0.730 CausalMutation CLINVAR RET mutations in a large indian family with medullary thyroid carcinoma. 25143909

2014
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer. 24716929

2014
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families. 23723040

2013
dbSNP: rs75996173
rs75996173
RET
0.730 GeneticVariation BEFREE Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families. 23723040

2013
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987

2011
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987

2011
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Coincidence of multiple endocrine neoplasia type 2A with acromegaly. 20739875

2010
dbSNP: rs75996173
rs75996173
RET
0.730 GeneticVariation BEFREE Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype. 19841562

2010
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B. 19240193

2009
dbSNP: rs75996173
rs75996173
RET
C 0.730 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802

2008
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 17895320

2007
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059

2007
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer. 16865647

2006
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. 16712668

2006
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre. 15452453

2004
dbSNP: rs75996173
rs75996173
RET
C 0.730 CausalMutation CLINVAR The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma. 15277225

2004
dbSNP: rs75996173
rs75996173
RET
T 0.730 CausalMutation CLINVAR RET oncogene mutations in medullary thyroid carcinoma in Mexican families. 12604374

2004
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR RET oncogene mutations in medullary thyroid carcinoma in Mexican families. 12604374

2004
dbSNP: rs75996173
rs75996173
RET
A 0.730 CausalMutation CLINVAR Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a. 12711285

2003