| 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 | |
| | | Single nucleotide variant (synonymous variant +2 more) | DGUOK-related disorder +4 more | |
Click to view in NCBI Gene