| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | PFKM-related disorder | |
| | | Single nucleotide variant (intron variant) | PFKM-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PFKM-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Duplication (frameshift variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Duplication (frameshift variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | PFKM-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Deletion (frameshift variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type VII | |
| | | Deletion (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Deletion (intron variant) | Glycogen storage disease, type VII | |
| | | Duplication (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +3 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (synonymous variant +2 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (splice donor variant +1 more) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type VII | |