| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephropathic cystinosis +4 more | GConflicting classifications of pathogenicity |
| | CTNS, CTNS-AS1 (L158P +1 more) | Single nucleotide variant (missense variant) | Nephropathic cystinosis +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Ocular cystinosis +5 more | |
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