| | | Single nucleotide variant (5 prime UTR variant +1 more) | Spongy degeneration of central nervous system | |
| | | 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) | Spongy degeneration of central nervous system +1 more | |
| | | 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) | Spongy degeneration of central nervous system | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Spongy degeneration of central nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Spongy degeneration of central nervous system +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Spongy degeneration of central nervous system +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Spongy degeneration of central nervous system | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system | |
| | | Single nucleotide variant (missense variant +1 more) | Canavan Disease, Familial Form +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift 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 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Spongy degeneration of central nervous system | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +3 more | |