| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II +5 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Microsatellite (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II +2 more | |
| | | Single nucleotide variant (intron variant) | GAA-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |