Gene: POLG ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 CausalMutation CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 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 0.840 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 0.840 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
dbSNP: rs113994097
rs113994097
POLG
G 0.830 GeneticVariation CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735

2012
dbSNP: rs113994097
rs113994097
POLG
G 0.830 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994097
rs113994097
POLG
G 0.830 GeneticVariation CLINVAR Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. 20153822

2010
dbSNP: rs113994097
rs113994097
POLG
G 0.830 GeneticVariation CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994097
rs113994097
POLG
G 0.830 GeneticVariation CLINVAR The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 16638794

2006
dbSNP: rs113994097
rs113994097
POLG
G 0.830 CausalMutation CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994097
rs113994097
POLG
G 0.830 GeneticVariation CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547

2004
dbSNP: rs139590686
rs139590686
POLG
G 0.800 CausalMutation CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679

2017
dbSNP: rs139590686
rs139590686
POLG
G 0.800 CausalMutation CLINVAR A national perspective on prenatal testing for mitochondrial disease. 24642831

2014
dbSNP: rs139590686
rs139590686
POLG
G 0.800 CausalMutation CLINVAR Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. 23921535

2014
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
dbSNP: rs113994096
rs113994096
POLG
A 0.800 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
dbSNP: rs113994096
rs113994096
POLG
A 0.800 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013
dbSNP: rs139590686
rs139590686
POLG
G 0.800 CausalMutation CLINVAR Surgical management of the burn wound and use of skin substitutes: an expert panel white paper. 23446645

2013
dbSNP: rs139590686
rs139590686
POLG
G 0.800 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: rs113994098
rs113994098
POLG
T 0.800 CausalMutation CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071

2012
dbSNP: rs113994098
rs113994098
POLG
T 0.800 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012