| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia | |
| | | Single nucleotide variant (nonsense +1 more) | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia | |
| | | Single nucleotide variant (splice donor variant) | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia | |
| | | Single nucleotide variant (nonsense +1 more) | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia | |
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