Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
A 0.900 CausalMutation CLINVAR Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 25810047

2015

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation BEFREE Our results suggest that there could be clinical differences caused by different amino acid substitutions at codon 634; specifically, the C634R mutation was associated with a more aggressive MEN2A phenotype than the C634Y mutation. 25515555

2015

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057

2012

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
A 0.900 CausalMutation CLINVAR Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation. 16099853

2005

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
0.900 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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

dbSNP: rs75996173
rs75996173
RET
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