| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Tay-Sachs disease +2 more | |
| | | Single nucleotide variant (splice donor variant) | Tay-Sachs disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Tay-Sachs disease | |
Click to view in NCBI Gene