| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MGME1, LOC126862983 (T68S) | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 11 | |
| | LOC126862983, MGME1 (W152*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 11 | |
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