| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | SCO2, TYMP (Q482* +1 more) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2
+1 more (Q370L) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
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