| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 +3 more | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CLN5, LOC130009913 (V38fs) | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis +4 more | |
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