Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767429
rs377767429
RET
TT 0.810 CausalMutation CLINVAR Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study. 28323957

2017
dbSNP: rs377767429
rs377767429
RET
TT 0.810 CausalMutation CLINVAR We present the clinical data for a family with MEN-2B associated with RET-A883F mutation. 21186952

2011
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation BEFREE A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. 21186952

2011
dbSNP: rs377767429
rs377767429
RET
TT 0.810 CausalMutation CLINVAR External ophthalmic findings in multiple endocrine neoplasia type 2B. 15281979

2004
dbSNP: rs377767429
rs377767429
RET
TT 0.810 GeneticVariation 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: rs377767429
rs377767429
RET
TT 0.810 CausalMutation CLINVAR Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. 9360560

1997
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. 9360560

1997
dbSNP: rs377767429
rs377767429
RET
TT 0.810 CausalMutation CLINVAR Germline mutation of RET codon 883 in two cases of de novo MEN 2B. 9294615

1997
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT Germline mutation of RET codon 883 in two cases of de novo MEN 2B. 9294615

1997
dbSNP: rs377767429
rs377767429
RET
0.810 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: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. 8595427

1995
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866

1994
dbSNP: rs377767429
rs377767429
RET
0.810 GeneticVariation UNIPROT Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. 7911697

1994