| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 (S28fs +3 more) | Duplication (frameshift variant) | Microcephaly +9 more | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (N317S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | PRORP, PRORP-PSMA6 (A398V +3 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 54 | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (A339D +3 more) | Single nucleotide variant (missense variant) | PRORP-related condition | |
| | PRORP, PRORP-PSMA6 (R445Q +3 more) | Single nucleotide variant (missense variant) | Microcephaly +9 more | GPathogenic/Likely pathogenic |
| | PRORP, PRORP-PSMA6 (A485V +3 more) | Single nucleotide variant (missense variant) | Perrault syndrome 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene