Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation BEFREE Two families with C618S/Y mutation were categorized as unclassified multiple endocrine neoplasia type 2. 26254625

2016
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese. 25628771

2015
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057

2012
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. 22068382

2012
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.820 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987

2011
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.820 CausalMutation CLINVAR Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. 14718397

2004
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 10522989

1999
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		A 0.820 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 GeneticVariation UNIPROT Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. 9498388

1998
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		T 0.820 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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
dbSNP: rs79781594
rs79781594
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 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