| | | Duplication (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Duplication (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Indel (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | GYS2, LOC126861480 (D471fs) | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | GYS2, LOC126861480 (T444N) | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | GYS2, LOC126861480 (R469C) | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | GYS2, LOC126861480 (I427L) | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | GYS2, LOC126861480 (T445M) | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Deletion (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Duplication (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (splice donor variant) | See cases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Duplication (frameshift variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disorder due to hepatic glycogen synthase deficiency | |