Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
T | 0.700 | CausalMutation | CLINVAR | An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. | 19851887 | 2010 |
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|
T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. | 21155762 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. | 16418736 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. | 26318770 | 2015 |
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|
T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. | 16034045 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. | 27601186 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. | 18301448 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. | 21056691 | 2011 |