Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 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: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC). 21054478

2011
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case. 17527003

2007
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. 16053382

2005
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. 15523405

2004
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Early malignant progression of hereditary medullary thyroid cancer. 14561794

2003
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991

1998
dbSNP: rs377767404
rs377767404
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675

1997