Gene: POLG ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517891
rs1057517891
POLG
A 0.700 CausalMutation CLINVAR

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

2015
dbSNP: rs113994094
rs113994094
POLG
A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994094
rs113994094
POLG
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
POLG ; MIR6766
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
POLG ; MIR6766
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
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
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
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709

2006
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. 18783964

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005