Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +15 more | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +12 more | |
| | | Deletion (frameshift variant +1 more) | Usher syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Chronic pain +13 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy +22 more | |
Click to view in NCBI Gene