| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant) | Goldmann-Favre syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 37 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
Click to view in NCBI Gene