| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Cystinuria | |
| | | Deletion (frameshift variant) | Cystinuria | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (intron variant) | Cystinuria | |
| | | Deletion (inframe_deletion) | Cystinuria | |
Click to view in NCBI Gene