|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
|
rs63750217
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
|
28369810 |
2017 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
|
27498913 |
2016 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
|
26333163 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
|
26274037 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
|
25307252 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
|
24323032 |
2014 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
|
23621914 |
2013 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
|
23621914 |
2013 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
|
19669161 |
2010 |
|
rs587778966
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750206
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
|
18337503 |
2008 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
|
17312306 |
2007 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
|
17440950 |
2007 |