|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
A cys634-->tyr missense mutation, already reported as causative in MEN2A patients, was identified after SSCP analysis and direct sequencing of exon 11 of the RET protooncogene in one individual affected with both MEN2A and CLA, thus suggesting a common etiology for the two disorders.
|
7914213 |
1994 |
|
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
|
BEFREE |
A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in <i>RET</i> exon 11.
|
28943896 |
2017 |
|
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
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
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
|
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
|
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
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
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
|
|
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
|
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.
|
30300539 |
2018 |
|
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
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.
|
9452064 |
1998 |
|
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 |
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 |
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 |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
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
|
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
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |