| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Sandhoff disease +1 more | |
| | | Deletion (frameshift variant +1 more) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease +1 more | |
| | | Deletion (frameshift variant) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Sandhoff disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Sandhoff disease | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Sandhoff disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene