| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GAA-related condition | |
| | | Indel (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type II | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type II | |
| | | Insertion (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (nonsense) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Indel (frameshift variant) | Glycogen storage disease, type II | |
| | | Microsatellite (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Indel (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion | Glycogen storage disease, type II | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type II | |