Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR "Common genetic etiology between ""multiple sclerosis-like"" single-gene disorders and familial multiple sclerosis." 28337550

2017
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 27099744

2016
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639

2016
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. 26095671

2015
dbSNP: rs281865494
rs281865494
TK2
A 0.700 GeneticVariation CLINVAR Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. 25446393

2015
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. 24508722

2014
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR POLG1-related levodopa-responsive parkinsonism. 25203713

2014
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193

2013
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. 22357363

2012
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311

2011
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. 21301859

2011
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision. 22114710

2011
dbSNP: rs138929605
rs138929605
POLG
A 0.700 GeneticVariation CLINVAR Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244

2008
dbSNP: rs281865494
rs281865494
TK2
A 0.700 GeneticVariation CLINVAR New mutations in TK2 gene associated with mitochondrial DNA depletion. 16504786

2006
dbSNP: rs757075712
rs757075712
TFAM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918046
rs121918046
POLG
0.010 GeneticVariation BEFREE Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes. 31425757

2019
dbSNP: rs886037843
rs886037843
POLG2 ; MILR1
0.010 GeneticVariation BEFREE Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. 30157269

2018
dbSNP: rs137854431
rs137854431
TK2
0.010 GeneticVariation BEFREE Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. 12873860

2003