| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP5PO, LOC126653351 (F24L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATP5PO, LOC126653351 (A25G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATP5PO, LOC130066573 (Q12*) | Single nucleotide variant (nonsense) | Microcephaly +3 more | |
| | | Single nucleotide variant (intron variant) | ATP5PO-related disorder +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene