| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type II | |
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