| | | Deletion | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen phosphorylase kinase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen phosphorylase kinase deficiency | |
| | | Deletion | Glycogen phosphorylase kinase deficiency | |
| | | Deletion (splice acceptor variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen phosphorylase kinase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Glycogen storage disease IXb +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen phosphorylase kinase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IXd +1 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IXb +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IXd +1 more | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease IXd +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Glycogen phosphorylase kinase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Duplication (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Deletion (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Deletion (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Deletion (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Deletion (3 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Duplication (intron variant) | Glycogen phosphorylase kinase deficiency | |
| | | Duplication (intron variant) | Glycogen phosphorylase kinase deficiency +1 more | |
| | | Insertion (intron variant) | Glycogen phosphorylase kinase deficiency | |
| | | Duplication (intron variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen phosphorylase kinase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Glycogen storage disease IXb +1 more | GConflicting classifications of pathogenicity |
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (intron variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (intron variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Duplication (intron variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXc +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen phosphorylase kinase deficiency | |
| | | Microsatellite (inframe_deletion) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen phosphorylase kinase deficiency +1 more | GPathogenic/Likely pathogenic |