| | | Duplication (nonsense) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +1 more | GConflicting classifications of pathogenicity |
| | EME2, LOC130058183 +1 more (L97F) | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial disease | |
| | | Single nucleotide variant (nonsense) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +1 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion (intron variant) | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Duplication (inframe_insertion +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +1 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Microsatellite (frameshift variant +1 more) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | NDUFC2, NDUFC2-KCTD14 (H93fs +1 more) | Deletion (frameshift variant +1 more) | Mitochondrial disease | |
| | NDUFC2, NDUFC2-KCTD14 (H58L) | Single nucleotide variant (missense variant +1 more) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease +4 more | |
| | | Single nucleotide variant | Mitochondrial disease +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant +2 more) | TWNK-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Indel (missense variant) | Mitochondrial disease | |
| | | Deletion (splice acceptor variant +1 more) | Mitochondrial disease | |
| | LOC130061929, NDUFAF8 +1 more (F18fs) | Duplication (frameshift variant +1 more) | Mitochondrial disease | |
| | LOC130061928, NDUFAF8 (M1V) | Single nucleotide variant (missense variant +2 more) | Mitochondrial disease | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Insertion | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Mitochondrial disease | |
| | | Single nucleotide variant (intron variant) | Mitochondrial disease | |
| | | Single nucleotide variant (intron variant) | Mitochondrial disease | |
| | | Single nucleotide variant (intron variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |