| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. | 18273873 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. | 18273873 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | 18602922 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. | 17557300 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. | 17557300 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Long-range PCR facilitates the identification of PMS2-specific mutations. | 16619239 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Long-range PCR facilitates the identification of PMS2-specific mutations. | 16619239 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. | 16144131 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. | 15256438 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. | 15256438 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. | 7628019 | 1995 |