| | | Single nucleotide variant (missense variant) | Glycogen storage disease type III +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Glycogen storage disease IIIa +2 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IIIa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IIIa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IIIa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +1 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IIIa +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IIIa | |
| | | Variation | Glycogen storage disease IIIa | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease type III | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | AGL-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Duplication (nonsense +1 more) | Glycogen storage disease IIIa +2 more | GPathogenic/Likely pathogenic |