|
Multiple Endocrine Neoplasia, Type IV
|
|
0.700 |
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 |
|
Multiple Endocrine Neoplasia Type 1
|
|
0.700 |
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 |
|
Medullary carcinoma of thyroid
|
|
0.710 |
GeneticVariation
|
BEFREE |
A total of 14 missense mutations (10 mutations in men and 4 in women) were identified in cysteine codons 611, 618, and 620 (exon10) in 11 patients and three first-degree relatives as follows: four C611Y (three with FMTC and one relative), one C618R (FMTC), one C618S (sMTC), one C620G (sMTC), four C620R (one with FMTC and three with sMTC), and three C620F (one with FMTC and two relatives).
|
25694125 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
GeneticVariation
|
BEFREE |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).
|
22199277 |
2011 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
CausalMutation
|
CLINVAR |
The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.
|
20664475 |
2010 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
|
19443294 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
|
19443294 |
2009 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
CausalMutation
|
CLINVAR |
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
|
19826964 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Familial prevalence and age of RET germline mutations: implications for screening.
|
18062802 |
2008 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.710 |
CausalMutation
|
CLINVAR |
Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
|
18976013 |
2008 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
|
18976013 |
2008 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
|
18063059 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
|
18063059 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype.
|
16868135 |
2006 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.
|
15472167 |
2004 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
|
14517954 |
2003 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
|
10549772 |
1999 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
GeneticVariation
|
BEFREE |
In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
|
9745455 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.
|
9820617 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
|
9681852 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
|
9745455 |
1998 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
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 |