Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.810 CausalMutation CLINVAR Two new mutations in the MTATP6 gene associated with Leigh syndrome. 16217706

2005
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753

1996
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		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
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		G 0.800 CausalMutation CLINVAR Maternally inherited Leigh syndrome. 8095070

1993
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		G 0.800 CausalMutation CLINVAR Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 1539598

1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.800 CausalMutation CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962

1990
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		C 0.800 CausalMutation CLINVAR

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837

1995