Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report. 17848262

2007
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 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: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286

2000
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR External ophthalmic findings in multiple endocrine neoplasia type 2B. 15281979

2004
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857

1999
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). 8880581

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation). 22992277

2012
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 CausalMutation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857

1999
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 CausalMutation CLINVAR We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC. 15277225

2004
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 CausalMutation CLINVAR Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. 17108110

2006
dbSNP: rs74799832
rs74799832
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		C 0.740 CausalMutation CLINVAR

dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer. 20368568

2010
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974

2011
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. 20065189

2010
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Targeted therapies for thyroid tumors. 21455200

2011
dbSNP: rs74799832
rs74799832
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.720 CausalMutation CLINVAR A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286

2000
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells. 21470995

2011
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Phase II trial of sorafenib in advanced thyroid cancer. 18541894

2008
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327

2009
dbSNP: rs74799832
rs74799832
RET
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		C 0.720 CausalMutation CLINVAR Phase II study of daily sunitinib in FDG-PET-positive, iodine-refractory differentiated thyroid cancer and metastatic medullary carcinoma of the thyroid with functional imaging correlation. 20847059

2010