Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75996173
rs75996173
RET
0.770 GeneticVariation BEFREE Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only. 25425582

2015

dbSNP: rs75996173
rs75996173
RET
0.770 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
0.770 GeneticVariation BEFREE 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: rs75996173
rs75996173
RET
0.770 GeneticVariation BEFREE Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation. 12746565

2003

dbSNP: rs75996173
rs75996173
RET
0.770 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
0.770 GeneticVariation BEFREE Small MTC in C634R may be less aggressive than those in C634Y and M918T. 9839497

1998

dbSNP: rs75996173
rs75996173
RET
A 0.770 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995

dbSNP: rs75996173
rs75996173
RET
0.770 GeneticVariation BEFREE A 6 base pair (bp) deletion causing the loss of a cysteine residue at codon 634 and a mutation causing substitution from cysteine to tyrosine at codon 634 were detected in 2 sporadic MTCs as somatic events. 8556059

1995