| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | |
| | | Duplication (splice donor variant) | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +2 more | |
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