| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type VI +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type VI +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type VI +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type VI +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type VI +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type VI +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type VI +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type VI +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Microsatellite (5 prime UTR variant) | Glycogen storage disease, type VI | |