| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? | 28503822 | 2018 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. | 28365877 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. | 26110232 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. | 27435373 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. | 25512458 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families. | 23837913 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | 23709753 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. | 23435383 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Classification of mismatch repair gene missense variants with PON-MMR. | 22290698 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. | 20186688 | 2010 |