rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
MEN2B is caused by a specific mutation (Met918-->Thr) in the RET receptor tyrosine kinase.
|
10023663 |
1999 |
rs74799832
|
|
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 |
rs74799832
|
|
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 |
rs74799832
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
rs74799832
|
|
C |
0.900 |
GeneticVariation |
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
rs74799832
|
|
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 |
rs74799832
|
|
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 |
rs74799832
|
|
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 |
rs74799832
|
|
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 |
rs74799832
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
rs74799832
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
External ophthalmic findings in multiple endocrine neoplasia type 2B.
|
15281979 |
2004 |
rs74799832
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).
|
8880581 |
1996 |
rs74799832
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
|
10679286 |
2000 |