Gene: APC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201856
rs786201856
APC
T 0.730 CausalMutation CLINVAR

dbSNP: rs137854580
rs137854580
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs62619935
rs62619935
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124

2011
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 20649969

2010
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466

2009
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426

2007
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 17785554

2007
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565

2006
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA). 16088911

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 15951963

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members. 16292097

2005
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. 14523376

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851

2004
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. 15300853

2004
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. 15024739

2004