Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 22167527

2012
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs121434629
rs121434629
PMS2
0.800 GeneticVariation UNIPROT

dbSNP: rs121434629
rs121434629
PMS2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
AC 0.800 CausalMutation CLINVAR

dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs587780062
rs587780062
PMS2
0.710 GeneticVariation BEFREE We describe the clinical and molecular features in the patient harboring this novel alteration c.505C>G, who meets clinical criteria for CMMRD and exhibits molecular evidence supporting a diagnosis of CMMRD. 27017610

2016
dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation BEFREE The hPMS2 mutation E705K is associated with Turcot syndrome. 17029773

2007
dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation UNIPROT Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation UNIPROT Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197

2004
dbSNP: rs63750871
rs63750871
PMS2
0.710 GeneticVariation BEFREE Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13. 15077197

2004
dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation UNIPROT Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979

1997
dbSNP: rs267608161
rs267608161
PMS2
0.710 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs587780062
rs587780062
PMS2
A 0.710 CausalMutation CLINVAR

dbSNP: rs63750871
rs63750871
PMS2
A 0.710 CausalMutation CLINVAR

dbSNP: rs886039646
rs886039646
PMS2
C 0.700 GeneticVariation CLINVAR Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. 28218421

2017
dbSNP: rs188006077
rs188006077
PMS2
0.700 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs200726484
rs200726484
PMS2
0.700 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs368516768
rs368516768
PMS2
0.700 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016