| | LOC130064822, LOC130064823 +290 more | Copy number gain | See cases | |
| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | FTL-related disorder | |
| | | Deletion (3 prime UTR variant +1 more) | Neuroferritinopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuroferritinopathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary hyperferritinemia with congenital cataracts +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary hyperferritinemia with congenital cataracts +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary hyperferritinemia with congenital cataracts +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary hyperferritinemia with congenital cataracts +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | FTL-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | FTL-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (stop lost +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperferritinemia with congenital cataracts +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Microsatellite (frameshift variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GYS1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Deletion (frameshift variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |