Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
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
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
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
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
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
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
0.800 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057 2012
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
0.800 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416 2001
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
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
dbSNP: rs78935588
rs78935588
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a
G 0.800 CausalMutation CLINVAR