| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | G6PC1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 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) | 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 (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Duplication (frameshift variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Deletion (frameshift variant) | G6PC1-related condition +3 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | 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) | 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 (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 (synonymous variant) | 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 (synonymous variant) | 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 +2 more | |
| | | Single nucleotide variant (synonymous variant) | 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 | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 (nonsense) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | G6PC1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | 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 (synonymous variant) | 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 (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 | |
| | | Duplication (nonsense +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 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) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (nonsense) | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | 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 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | 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 (nonsense) | 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 | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | |
| | | Single nucleotide variant (intron variant) | not provided | |