Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. | 27601186 | 2016 |
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|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients. | 21901500 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. | 12799449 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. | 20533529 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. | 16338176 | 2006 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. | 24903654 | 2015 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. | 28449805 | 2017 |
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|
GT | 0.700 | CausalMutation | CLINVAR | A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. | 28874130 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
ATGTGCCCC | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. | 26248088 | 2015 |