| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Deletion (frameshift variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
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