| | | Deletion | Macrocytic dyserythropoietic anemia +1 more | |
| | | Deletion | Macrocytic dyserythropoietic anemia +1 more | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion | Tetralogy of Fallot | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Insertion | Abnormal aortic valve physiology | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Insertion | Abnormal aortic valve physiology | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Insertion | Abnormal mitral valve physiology | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Insertion | Abnormal mitral valve physiology | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Duplication | Abnormal mitral valve physiology | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Decreased activity of mitochondrial complex IV +1 more | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Deletion | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | not provided | |