|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
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
|
|
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
|
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
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
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 |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.
|
16099853 |
2005 |
|
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 |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
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
|
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 |
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 |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
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
|
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 |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |
|
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 |
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
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
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
|
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 |
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
|
7860065 |
1995 |