Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 36 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 36 | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene