| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 | |
| | COX10, LOC105943586 (C243del) | Microsatellite (inframe_deletion) | Mitochondrial complex 4 deficiency, nuclear type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 3 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant) | Mitochondrial complex 4 deficiency, nuclear type 3 +2 more | |
Click to view in NCBI Gene