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