Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77503355
rs77503355
RET
A 0.710 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: rs77503355
rs77503355
RET
T 0.710 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: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. 19443294

2009
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802

2008
dbSNP: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases. 18976013

2008
dbSNP: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059

2007
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059

2007
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. 16868135

2006
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure. 15472167

2004
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes. 14517954

2003
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. 10549772

1999
dbSNP: rs77503355
rs77503355
RET
0.710 GeneticVariation BEFREE In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene. 9745455

1998
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma. 9820617

1998
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. 9681852

1998
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene. 9745455

1998
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192

1997
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 9012462

1997
dbSNP: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. 8909322

1996
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR "Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. ""Study Group Multiple Endocrine Neoplasia Austria (SMENA)""." 8797874

1996
dbSNP: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. 7916559

1994
dbSNP: rs77503355
rs77503355
RET
T 0.710 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109

1994
dbSNP: rs77503355
rs77503355
RET
C 0.710 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109

1994
dbSNP: rs77503355
rs77503355
RET
A 0.710 CausalMutation CLINVAR Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403

1993