|
rs1057517765
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
|
19836313 |
2009 |
|
rs1057517765
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
rs1057517765
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
|
18515411 |
2008 |
|
rs1057517765
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1060501335
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1060501335
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
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 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.
|
26694661 |
2016 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
|
26446593 |
2016 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
|
25452455 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
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 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
|
24569162 |
2014 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
|
24444654 |
2014 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
|
24569162 |
2014 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
|
23108399 |
2013 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
|
23108399 |
2013 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
rs140342925
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
|
20418187 |
2010 |