| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA4, LOC126805793 (S1642R +1 more) | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | ABCA4, LOC126805793 (A1598D +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene