| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Cerebral palsy +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Kearns-Sayre syndrome | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | 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 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | 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 | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | See cases | |
| | | 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 | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |