| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +11 more | |
Click to view in NCBI Gene