| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
Click to view in NCBI Gene