| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PDE6B, PDE6B-AS1 (E296* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | PDE6B-AS1, PDE6B (Q185* +2 more) | Single nucleotide variant (nonsense) | Retinitis pigmentosa | |
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