| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | |
| | | Deletion (nonsense) | not provided +1 more | |
Click to view in NCBI Gene