| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neuronal Ceroid-Lipofuscinosis, Recessive +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene