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

dbSNP: rs77724903
rs77724903
RET
0.830 GeneticVariation BEFREE In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC. 25425582

2015

dbSNP: rs77724903
rs77724903
RET
0.830 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: rs77724903
rs77724903
RET
0.830 GeneticVariation BEFREE Our data suggest that the natural history of the novel C634Y/Y791F double mutation carries a codon 634-like pattern of medullary thyroid carcinoma development, is associated with increased susceptibility to unusually large bilateral pheochromocytomas, and is likely more biologically active than each individual mutation. 20080836

2010

dbSNP: rs77724903
rs77724903
RET
0.830 GeneticVariation UNIPROT

dbSNP: rs77724903
rs77724903
RET
T 0.830 CausalMutation CLINVAR

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation BEFREE There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03). 18795243

2008

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005

dbSNP: rs75076352
rs75076352
RET
C 0.820 CausalMutation CLINVAR

dbSNP: rs75076352
rs75076352
RET
G 0.820 CausalMutation CLINVAR

dbSNP: rs77709286
rs77709286
RET
G 0.800 CausalMutation CLINVAR

dbSNP: rs77709286
rs77709286
RET
0.800 GeneticVariation UNIPROT