| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA4, LOC126805793 (V1656I +1 more) | Single nucleotide variant (missense variant) | Macular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Macular dystrophy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene