| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more | |
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