Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively. 23723040

2013
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE In the maternal origin, p.C634Y caused bilateral MTC in all 5 cases and bilateral pheochromocytoma in 2 of the 5; the earliest onset age was 28 years. 21655256

2011
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. 20080836

2010
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE Family 1 showed a germline mutation (C634Y) in three individuals; a sister and a brother with symptomatic MTC; the former also presented with pheochromocytoma and hyperparathyroidism, and her son was a nine-year-old boy of previously unknown status. 11987030

2002
dbSNP: rs75996173
rs75996173
RET
A 0.850 CausalMutation CLINVAR

dbSNP: rs75996173
rs75996173
RET
T 0.850 CausalMutation CLINVAR

dbSNP: rs75996173
rs75996173
RET
C 0.850 CausalMutation CLINVAR