| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RDH5, BLOC1S1-RDH5
+1 more (R191Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S1-RDH5, CD63
+1 more (A240fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | Pigmentary retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | RDH5, BLOC1S1-RDH5
+1 more (A294P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
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