| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | DGUOK, DGUOK-AS1 (P143S +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | DGUOK-related disorder | |
| | | Single nucleotide variant (intron variant) | DGUOK-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more | |
Click to view in NCBI Gene