Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151975
Disease: DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES 		0.700 0
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C4016626
Disease: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
MT 7989 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		0.700 0
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C4016620
Disease: CARDIOMYOPATHY AND DEAFNESS
CARDIOMYOPATHY AND DEAFNESS 		0.700 0
dbSNP: rs118192101
rs118192101
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
1.000 MT 8313 non coding transcript exon variant G/A snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs118192103
rs118192103
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
1.000 MT 8342 non coding transcript exon variant G/A snv
CUI: C4016622
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS 		0.700 0
dbSNP: rs121434454
rs121434454
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRND
1.000 MT 7526 non coding transcript exon variant A/G snv
CUI: C4016606
Disease: MITOCHONDRIAL MYOPATHY, ISOLATED
MITOCHONDRIAL MYOPATHY, ISOLATED 		0.700 0
dbSNP: rs121434456
rs121434456
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1.000 0.120 MT 10438 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1.000 0.080 MT 9997 non coding transcript exon variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
MT 10010 non coding transcript exon variant T/C snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs1556423388
rs1556423388
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 0.080 MT 8087 frameshift variant T/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 8839 missense variant G/A;C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484165
rs1569484165
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7661 protein altering variant -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484166
rs1569484166
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7668 inframe insertion -/CAC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484169
rs1569484169
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7680 protein altering variant -/GTC ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484177
rs1569484177
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7789 inframe insertion -/TCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484178
rs1569484178
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7814 protein altering variant -/CCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484208
rs1569484208
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 0.040 MT 8418 protein altering variant -/ATA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.700 0
dbSNP: rs1569484209
rs1569484209
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 MT 8431 inframe insertion -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0