Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | | Cone-rod dystrophy | |
| | | Deletion (nonsense +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more | |
Click to view in NCBI Gene