| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | Cystinosis | |
| | | Deletion (frameshift variant +2 more) | Cystinosis | |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Insertion | Cystinosis | |
Click to view in NCBI Gene