Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (stop lost +1 more) | Cone-rod dystrophy 24 | |
| | | Single nucleotide variant (nonsense) | Macular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | LOC130060555, UNC119 (K57*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene