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: rs886041276
rs886041276
POLG
T 0.700 CausalMutation CLINVAR

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: rs113994098
rs113994098
POLG
T 0.700 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911

2003
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003
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 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
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 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005
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
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: 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 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032

2006
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Depletion of mtDNA: syndromes and genes. 17280874

2007
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: 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: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. 18195151

2008
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: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008