| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Adult polyglucosan body disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV +1 more | |
| | GBE1, LOC123002309 +4 more | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | Glycogen storage disease IV, classic hepatic +3 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Polyneuropathy | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +2 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Indel (intron variant) | GBE1-related disorder +1 more | |
| | | Indel (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | GBE1-related disorder | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | GBE1, LOC123002309 +3 more | Deletion | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type IV +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +3 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Deletion (frameshift variant) | Glycogen storage disease IV, classic hepatic +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |