| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BLOC1S1-RDH5, RDH5 (D128N) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | BLOC1S1-RDH5, CD63
+1 more (R209fs) | Deletion (non-coding transcript variant +1 more) | Pigmentary retinal dystrophy | |
| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | See cases +4 more | GPathogenic/Likely pathogenic |
| | BLOC1S1-RDH5, CD63
+1 more (Y318fs) | Duplication (non-coding transcript variant +2 more) | Pigmentary retinal dystrophy | |
Click to view in NCBI Gene