Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79658334
rs79658334
RET
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121913240
rs121913240
KRAS
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE A heterozygous TGC to CGC mutation of codon 634 (cysteine to arginine) was found in the PHAEO and medullary thyroid cancer from the MEN 2A patient. 7889627

1995
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
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. 7633441

1995
dbSNP: rs77316810
rs77316810
RET
0.040 GeneticVariation BEFREE Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. 7633441

1995
dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Apart from the MET918-->Thr mutation in 5 of the MTC cases, we found a 3-bp deletion in exon 11, only present in the tumor, in another case. 8768845

1996
dbSNP: rs79658334
rs79658334
RET
C 0.800 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs75234356
rs75234356
RET
0.760 GeneticVariation BEFREE Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substitution of an alanine for a serine at codon 891 in a family with medullary thyroid carcinoma. 9398735

1997
dbSNP: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed. 9259198

1997
dbSNP: rs77503355
rs77503355
RET
A 0.710 GeneticVariation CLINVAR The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 9012462

1997
dbSNP: rs78014899
rs78014899
RET
C 0.710 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs77316810
rs77316810
RET
0.040 GeneticVariation BEFREE The finding of a C620R substitution in a patient affected with total colonic aganglionosis confirms the involvement of this mutation in the pathogenesis of different phenotypes (i.e., medullary thyroid carcinoma and Hirschsprung). 9090527

1997
dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Small MTC in C634R may be less aggressive than those in C634Y and M918T. 9839497

1998
dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
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: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs79781594
rs79781594
RET
0.730 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs74799832
rs74799832
RET
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: rs77939446
rs77939446
RET
A 0.740 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs377767404
rs377767404
RET
C 0.730 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs76262710
rs76262710
RET
C 0.730 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999