Gene: PMS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204

2016
dbSNP: rs267608150
rs267608150
PMS2
CTTCACACACA 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
dbSNP: rs267608156
rs267608156
PMS2
CA 0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs267608172
rs267608172
PMS2
T 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
dbSNP: rs573125799
rs573125799
PMS2
T 0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs587778617
rs587778617
PMS2
A 0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs587779338
rs587779338
PMS2
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
dbSNP: rs587779338
rs587779338
PMS2
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
dbSNP: rs587779343
rs587779343
PMS2
A 0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs587779343
rs587779343
PMS2
A 0.700 CausalMutation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs587779343
rs587779343
PMS2
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
dbSNP: rs587779343
rs587779343
PMS2
A 0.700 CausalMutation CLINVAR Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. 27694994

2016
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
T 0.700 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
T 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
dbSNP: rs587780062
rs587780062
PMS2
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
dbSNP: rs587781339
rs587781339
PMS2
C 0.700 CausalMutation CLINVAR Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. 27096365

2016
dbSNP: rs587782704
rs587782704
PMS2
C 0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs587782704
rs587782704
PMS2
C 0.700 CausalMutation CLINVAR Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency. 27001570

2016
dbSNP: rs587782704
rs587782704
PMS2
C 0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. 27017610

2016
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome. 27037742

2016
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204

2016