| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Canavan Disease, Familial Form +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Canavan Disease, Familial Form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Canavan Disease, Familial Form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system | |
| | | Single nucleotide variant (missense variant +1 more) | Canavan Disease, Familial Form +3 more | |
Click to view in NCBI Gene