| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (nonsense +3 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Deletion (intron variant) | Mitochondrial complex I deficiency +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Gastrointestinal stromal tumor +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +6 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +6 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1GG +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Leigh syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +2 more | |
| | | Duplication (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +4 more | |
| | | Indel (5 prime UTR variant +1 more) | SURF1-related disorder +4 more | |
| | | Single nucleotide variant (splice donor variant) | Leigh syndrome +3 more | |
| | | Deletion (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 +3 more | |
| | | Single nucleotide variant | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 +1 more | |
| | | Microsatellite (frameshift variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | FOXRED1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leigh syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex IV deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Leigh syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | COX10, LOC105943586 (P246S) | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 16 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 16 | |
| | | Single nucleotide variant | Cerebral palsy +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Seizure +2 more | |
| | | Single nucleotide variant | Leigh syndrome +3 more | |