| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BLOC1S1-RDH5, RDH5 (V132M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | Pigmentary retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Pigmentary retinal dystrophy +2 more | |
Click to view in NCBI Gene