| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 8 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +4 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 8 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
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