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