| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Pearson syndrome | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Pearson syndrome | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | not provided | |
| | | Deletion | Pearson syndrome | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | 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 | 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 | 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 | |
| | | Duplication | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | 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 | 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 | 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |