| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Spongy degeneration of central nervous system | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Spongy degeneration of central nervous system | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Canavan Disease, Familial Form +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +3 more | |
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