Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 83 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 83 | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa 83 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 35 +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 83 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene