| | | Microsatellite (frameshift variant +1 more) | Glycogen storage disease | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease, type VII +2 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Adult polyglucosan body disease +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +3 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +5 more | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation, type IIw +5 more | |