| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 (intron variant) | not provided | |
| | BLOC1S1-RDH5, CD63
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | BLOC1S1-RDH5, CD63
+1 more (L272fs) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S1-RDH5, CD63
+1 more (R280H) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital stationary night blindness +2 more | GPathogenic/Likely pathogenic |
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