| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | AIPL1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | AIPL1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | AIPL1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | AIPL1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | AIPL1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | AIPL1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 4 +1 more | GConflicting classifications of pathogenicity |
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