Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rod-cone dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Fanconi renotubular syndrome 1 | |
Click to view in NCBI Gene