Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation BEFREE Two families with C618S/Y mutation were categorized as unclassified multiple endocrine neoplasia type 2. 26254625

2016
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057

2012
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation BEFREE We report here three generations of one MEN-2 family with rare missense mutation at codon 618 (Cys-->Arg) of the RET proto-oncogene. 11386462

2001
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		C 0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 10522989

1999
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation BEFREE DNA sequence analysis showed a heterozygote C618R mutation in exon 10 of the RET proto-oncogene in the proband and his mother, as well as in second-degree relatives with MEN 2A phenotype or HSCR. 8675603

1996
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 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: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A). 7860065

1995
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109

1994
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414

1994
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165

1994
dbSNP: rs76262710
rs76262710
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.840 GeneticVariation UNIPROT Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 8099202

1993