Source: ALL
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
0.810 GeneticVariation BEFREE The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation. 24153443

2013
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
0.810 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

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: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.810 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263

1998
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.810 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.810 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.810 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
A 0.800 CausalMutation CLINVAR Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 19458970

2009
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.800 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.800 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.800 GeneticVariation UNIPROT A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
A 0.800 CausalMutation CLINVAR A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007
dbSNP: rs267606893
rs267606893
ND5
C 0.800 GeneticVariation CLINVAR Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. 17317336

2007
dbSNP: rs267606893
rs267606893
ND5
0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
C 0.800 CausalMutation CLINVAR Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. 16337195

2005
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
C 0.800 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.800 GeneticVariation UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
C 0.800 CausalMutation CLINVAR Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
dbSNP: rs267606893
rs267606893
ND5
C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
dbSNP: rs267606893
rs267606893
ND5
0.800 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
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: rs267606893
rs267606893
ND5
C 0.800 CausalMutation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606893
rs267606893
ND5
C 0.800 GeneticVariation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002