| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATPAF2, LOC130060409 (P43L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | See cases | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
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