Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
G 0.700 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836

2019

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. 28771251

2018

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. 29588995

2018

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017

dbSNP: rs113994097
rs113994097
G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016

dbSNP: rs113994097
rs113994097
G 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016

dbSNP: rs113994097
rs113994097
G 0.700 CausalMutation CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490

2016

dbSNP: rs113994094
rs113994094
A 0.700 CausalMutation CLINVAR Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. 25585994

2015

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830

2014

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014

dbSNP: rs113994094
rs113994094
A 0.700 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR An informatics approach to analyzing the incidentalome. 22995991

2013

dbSNP: rs113994096
rs113994096
A 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013

dbSNP: rs201477273
rs201477273
A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013

dbSNP: rs368435864
rs368435864
T 0.700 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013

dbSNP: rs368435864
rs368435864
T 0.700 GeneticVariation CLINVAR Universal heteroplasmy of human mitochondrial DNA. 23077218

2013

dbSNP: rs368435864
rs368435864
T 0.700 GeneticVariation CLINVAR Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. 23208208

2013