| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene