| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 20 | |
| | LOC126859646, VARS2 (L472fs +2 more) | Deletion (frameshift variant) | Combined oxidative phosphorylation defect type 20 | GPathogenic/Likely pathogenic |
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