Gene: ATP6 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.810 CausalMutation CLINVAR Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. 18461509

2007
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.810 CausalMutation CLINVAR Two new mutations in the MTATP6 gene associated with Leigh syndrome. 16217706

2005
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. 11731285

2002
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. 11245730

2001
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. 11382202

2000
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. 11119722

2000
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. 9631394

1998
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753

1996
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837

1995
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310

1994
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530

1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 1550128

1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.800 CausalMutation CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962

1990
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810

2013
dbSNP: rs587776444
rs587776444
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 23266623

2013
dbSNP: rs587776437
rs587776437
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. 20525945

2011
dbSNP: rs1556423632
rs1556423632
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Two new mutations in the MTATP6 gene associated with Leigh syndrome. 16217706

2005
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
A 0.700 CausalMutation CLINVAR G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. 11108511

2000
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
AC 0.700 CausalMutation CLINVAR A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. 11063732

2000
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662

1995