| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | early onset and severe retinal dystrophy | |
| | | Single nucleotide variant (nonsense) | early onset and severe retinal dystrophy | |
| | | Deletion | early onset and severe retinal dystrophy | |
| | | Microsatellite (frameshift variant) | early onset and severe retinal dystrophy | |
| | COL18A1, SLC19A1 (I1155fs +2 more) | Duplication (frameshift variant) | early onset and severe retinal dystrophy | |
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