| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. | 20864636 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. | 20587412 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. | 19419416 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | 18561205 | 2008 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. | 17135187 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. | 12386821 | 2002 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. | 11781295 | 2002 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. | 11555625 | 2001 |