| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PDZD7-related condition +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene