| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Neuronal ceroid lipofuscinosis 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Neuronal ceroid lipofuscinosis 13 | |
Click to view in NCBI Gene