| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sandhoff disease +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | |
Click to view in NCBI Gene