| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (nonsense) | See cases +3 more | |
Click to view in NCBI Gene