| 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 |
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