| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 13 with retinal and foveal abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 13 with retinal and foveal abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 13 with retinal and foveal abnormalities | |
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