|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
|
9230192 |
1997 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in 'MEN 2A with CLA', one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.
|
30049837 |
2018 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
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 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.
|
9097963 |
1997 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
|
8099202 |
1993 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.
|
26732158 |
2017 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
|
10522989 |
1999 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
|
7860065 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
|
23723040 |
2013 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
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 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
|
8807338 |
1996 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome.
|
15592804 |
2005 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
|
9950371 |
1999 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have identified a mutation in codon 620, 2053 T-->C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T-->C (Cys634Arg) and 2096 G-->A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families.
|
7835899 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y.
|
24643705 |
2014 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.
|
8626834 |
1996 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |