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: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742

2006
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034

2009
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 17436221

2007
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405

2011
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635

2013
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723

2007
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836

2019
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203

2008
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490

2016
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010