| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101928525, MRPS2 (H134Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (P288T) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 +1 more | |
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