| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Microsatellite (inframe_insertion) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Insertion (inframe_insertion) | Retinal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | |
| | IMPDH1, LOC129999258 (P7S) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
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