| | 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 | |
| | PRORP, PRORP-PSMA6 (Y270H +2 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 54 | |
| | PRORP, PRORP-PSMA6 (A398V +3 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 54 | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (T292A +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 54 | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (R130Q +3 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 54 | |
| | PRORP, PRORP-PSMA6 (A339D +3 more) | Single nucleotide variant (missense variant) | PRORP-related disorder +2 more | GConflicting classifications of pathogenicity |
| | PRORP, PRORP-PSMA6 (N317S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | PRORP, PRORP-PSMA6 (S28fs +3 more) | Duplication (frameshift variant) | Combined oxidative phosphorylation deficiency 54 +9 more | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (R445Q +3 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 54 +9 more | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (A485V +3 more) | Single nucleotide variant (missense variant) | Perrault syndrome 1 +1 more | GPathogenic/Likely pathogenic |