×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
CausalMutation
disease
CLINVAR
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535
2010
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
CausalMutation
disease
CLINVAR
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075
2012
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
CausalMutation
disease
CLINVAR
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
18205192
2008
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
324
Gene Symbol:
APC
APC
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
1630
Gene Symbol:
DCC
DCC
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
699
Gene Symbol:
BUB1
BUB1
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.660
CausalMutation
disease
CLINVAR
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
0.640
CausalMutation
disease
CLINVAR
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
26486927
2016
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
16557584
2006
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.
15635083
2005
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
20848659
2010
×
Entrez Id:
8313
Gene Symbol:
AXIN2
AXIN2
0.500
CausalMutation
disease
CLINVAR
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
19394335
2009
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
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
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
11818965
2002
×
Entrez Id:
4513
Gene Symbol:
COX2
COX2
0.500
CausalMutation
disease
CLINVAR
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
15931596
2005
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
15366000
2004
×
Entrez Id:
4595
Gene Symbol:
MUTYH
MUTYH
0.500
CausalMutation
disease
CLINVAR
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
22703879
2012