| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Adult polyglucosan body disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +1 more | |
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