| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 12 +2 more | |
| | | Single nucleotide variant | not specified +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | neonatal lactic acidosis +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene