| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Late-infantile neuronal ceroid lipofuscinosis +3 more | |
Click to view in NCBI Gene