| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COX20, LOC129932912 (K14R) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 4 deficiency, nuclear type 11 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene