| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA4, LOC126805794 (Y1169D +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | LOC126805794, ABCA4 (M1209T +1 more) | Single nucleotide variant (missense variant) | not provided +7 more | |
| | ABCA4, LOC126805794 (M1135L +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | ABCA4, LOC126805794 (V1131I +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
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