| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNS, CTNS-AS1 (N49fs +1 more) | Duplication (frameshift variant) | Ocular cystinosis +2 more | |
| | CTNS, CTNS-AS1 (Q231* +1 more) | Single nucleotide variant (nonsense) | Nephropathic cystinosis +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene