Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Nephropathic cystinosis +4 more | |
| | | Deletion (frameshift variant +2 more) | Nephropathic cystinosis +6 more | |
| | | Deletion (splice donor variant) | Nephropathic cystinosis +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene