Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822 2018
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. 28365877 2017
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families. 23837913 2014
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383 2013
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698 2012
dbSNP: rs587779338
rs587779338
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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