| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (stop lost) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Duplication (frameshift variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Deletion (nonsense) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V | |
| | | Indel (splice donor variant) | Glycogen storage disease, type V | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type V | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type V +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V | |