| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-C +3 more | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-III-C +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
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