| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Adult polyglucosan body disease +6 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +4 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene