|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
|
10522989 |
1999 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
|
8099202 |
1993 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
|
7860065 |
1995 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
Pheochromocytoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.
|
8557249 |
1996 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
|
9452077 |
1998 |