| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | RDH5-related condition +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene