| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ABCA4-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ABCA4-related condition +8 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
Click to view in NCBI Gene