| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (nonsense) | PPT1-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 1 | GPathogenic/Likely pathogenic |
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