| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis +2 more | |
| | CLN5, LOC130009913 (S49fs) | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +2 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene