| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PRORP, PRORP-PSMA6 (T59fs) | Deletion (non-coding transcript variant +2 more) | Combined oxidative phosphorylation deficiency 54 | |
| | PRORP, PRORP-PSMA6 (Q217* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Combined oxidative phosphorylation deficiency 54 | |
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