| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 9A +5 more | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | ALDH18A1-related de Barsy syndrome +8 more | |
Click to view in NCBI Gene