Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR The RET C611Y mutation causes MEN 2A and associated cutaneous 30300539

2018
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Adrenal medullary hyperplasia is a precursor lesion for pheochromocytoma in MEN2 syndrome. 25379023

2014
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study. 20063095

2010
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401

2009
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802

2008
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. 11230481

2001
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy. 11331212

2001
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome? 10951350

2000
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192

1997
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. 8855832

1996
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. 8626834

1996
dbSNP: rs377767397
rs377767397
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 7907913

1994