| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | 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 | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +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 | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |