| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +4 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy | |
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