DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs79658334 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

27099842

2016

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

25637381

2015

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.

25501606

2015

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.

26247112

2015

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

26269449

2015

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

25810047

2015

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

24336963

2014

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.

24845513

2014

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

24361808

2014

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

24361808

2014

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.

23468374

2013

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?

21711375

2011

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Update multiple endocrine neoplasia type 2.

20087666

2010

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal.

16712668

2006

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.

16532227

2006

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

10445857

1999

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

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

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.

9398735

1997

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

9242375

1997

dbSNP:

rs79658334

RET

0.700

CausalMutation

CLINVAR

RET mutations in exons 13 and 14 of FMTC patients.

7784092

1995

dbSNP:

rs79658334

RET

0.700

GeneticVariation

CLINVAR