| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 6A | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more | |
Click to view in NCBI Gene