Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.710 CausalMutation CLINVAR Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. 15531714 2004
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375 1997
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases. 18976013 2008
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. 9950371 1999
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.710 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma. 26230854 2015
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059 2007
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies. 24784869 2014
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936 1995
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Medullary thyroid cancer secreting carbohydrate antigen 19-9 (Ca 19-9): a fatal case report. 23861463 2013
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. 7915822 1994
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure. 15472167 2004
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403 1993
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family. 7595171 1995
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 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: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2A: case report. 24331334 2014
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers. 11900218 2002
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
C 0.710 CausalMutation CLINVAR Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report. 27698838 2016
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
G 0.710 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987 2011