| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis +2 more | GPathogenic/Likely pathogenic |
| | | Insertion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
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