| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | BLOC1S1-RDH5, CD63
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | See cases +4 more | GPathogenic/Likely pathogenic |
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