| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | 22102614 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. | 21642682 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. | 20587412 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. | 17505997 | 2007 |
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|
C | 0.700 | CausalMutation | CLINVAR | Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. | 15680406 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. | 14574162 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. | 12124176 | 2002 |
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|
C | 0.700 | CausalMutation | CLINVAR | Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. | 11772966 | 2002 |
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|
C | 0.700 | CausalMutation | CLINVAR | Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. | 8574961 | 1996 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. | 7874129 | 1994 |