| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Adult-onset foveomacular vitelliform dystrophy +7 more | GConflicting classifications of pathogenicity |
| | RDH5, BLOC1S1-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) | Pigmentary retinal dystrophy +3 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