| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | 5-Oxoprolinase deficiency | |
| | | Single nucleotide variant (splice donor variant) | 5-Oxoprolinase deficiency | |
| | | Single nucleotide variant (nonsense) | 5-Oxoprolinase deficiency | |
| | | Single nucleotide variant (missense variant) | 5-Oxoprolinase deficiency | |
| | | Single nucleotide variant (nonsense) | 5-Oxoprolinase deficiency | |
Click to view in NCBI Gene