| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Perrault syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | See cases | |
| | | Deletion (frameshift variant +2 more) | See cases | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Copy number gain | See cases | |
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