| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12
+1 more (A269fs) | Deletion (frameshift variant) | RDH12-related disorder +4 more | |
Click to view in NCBI Gene