| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATPAF2, LOC130060410 (I33fs) | Deletion (frameshift variant) | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | |
| | | Copy number loss | Abnormal facial shape +14 more | |
| | | Copy number gain | Delayed gross motor development +3 more | |
| | | Copy number loss | Pes valgus +9 more | |
Click to view in NCBI Gene