| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | |
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