| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Single nucleotide variant (nonsense) | Abnormality of the nervous system +6 more | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 2 +4 more | |
Click to view in NCBI Gene