| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP5PO, LOC130066573 (A3S) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5PO, LOC130066573 (S7C) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5PO, LOC130066573 (S7P) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5PO, LOC130066573 (Q12*) | Single nucleotide variant (nonsense) | Severe global developmental delay +3 more | |
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