| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | LINC02128, LINC02133 +209 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ITFG1, LOC112449713 +4 more | Copy number loss | See cases | |
| | ITFG1, LOC112449713 +4 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ITFG1, LOC112449713 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | PHKB-related condition +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Glycogen storage disease IXb +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (nonsense +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (splice donor variant) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | PHKB-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant +1 more) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Duplication (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Deletion (intron variant) | Glycogen storage disease IXb +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Deletion (frameshift variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Deletion (frameshift variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXb +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Microsatellite | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (L53V +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (L55P +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (Q57R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (T68I +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen phosphorylase kinase deficiency +2 more | GConflicting classifications of pathogenicity |
| | LOC112449713, PHKB (G62S +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (F64V +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | PHKB, LOC112449713 (T66A +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IXb | |
| | LOC112449713, PHKB (G70S +1 more) | Single nucleotide variant (missense variant) | Glycogen storage disease IXb | |