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 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: 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 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 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 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 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 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 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 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 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

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 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994