Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Visual impairment +4 more | |
| | | Single nucleotide variant | Visual impairment +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Severe early-childhood-onset retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene