| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | CTNS-related condition +7 more | |
| | | Duplication (frameshift variant +2 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
Click to view in NCBI Gene