| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Sandhoff disease | |
| | | Deletion (splice donor variant) | Sandhoff disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | |
Click to view in NCBI Gene