| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GYS2, LOC126861480 (T444N) | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense) | GYS2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
Click to view in NCBI Gene