| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Galactosemia 4 | |
| | | Single nucleotide variant (missense variant) | Galactosemia 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GALM-related condition | |
| | | Single nucleotide variant (nonsense) | Galactosemia 4 | |
Click to view in NCBI Gene