| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Neuronal ceroid lipofuscinosis 7 | |
| | ABHD18, LOC129993055
+4 more | Copy number loss | Neuronal ceroid lipofuscinosis 7 | |
| | | Single nucleotide variant (nonsense +1 more) | Neuronal ceroid lipofuscinosis 7 | |
| | ABHD18, LOC129993058
+1 more | Copy number loss | Neuronal ceroid lipofuscinosis 7 | |
Click to view in NCBI Gene