| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Duplication | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type IV | |
| | | Microsatellite (frameshift variant) | Glycogen storage disease, type IV | |
| | | Copy number loss | not provided | |
| | | Insertion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Microsatellite (frameshift variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Indel (frameshift variant) | Glycogen storage disease, type IV | |
| | | Indel (frameshift variant) | Glycogen storage disease, type IV | |
| | | Indel (frameshift variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV | |
| | | Duplication (splice acceptor variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type IV | |
| | | Insertion (nonsense) | Glycogen storage disease, type IV | |
| | | Deletion (nonsense) | Glycogen storage disease, type IV | |
| | | Duplication (nonsense) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | Abnormal esophagus morphology | |
| | | Deletion | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | |