Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Retinitis pigmentosa 58 | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa 58 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene