Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome. 27037742

2016
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs63750250
rs63750250
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AT 0.700 CausalMutation CLINVAR Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. 15887099

2005