| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type V +1 more | |
| | | 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 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | 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) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |