| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. | 26761715 | 2016 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. | 26247049 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | 22949379 | 2013 |
|||
|
G | 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 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. | 17653898 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. | 16736289 | 2006 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. | 16395668 | 2006 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. | 11208710 | 2001 |