Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. | 26895986 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report. | 25850602 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. | 26318770 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. | 23012243 | 2013 |
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|
A | 0.700 | CausalMutation | 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 PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. | 15077197 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes. | 12714694 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. | 9488480 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mismatch repair deficiency in phenotypically normal human cells. | 7632227 | 1995 |