Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sandhoff disease, adult form | |
| | | Single nucleotide variant (missense variant) | Sandhoff disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene