| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | SLC2A2-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC2A2-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC2A2-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Deletion (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (nonsense) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Deletion (frameshift variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Microsatellite (intron variant) | Fanconi-Bickel syndrome | |
| | | Duplication | not provided | |
| | | Deletion (frameshift variant) | SLC2A2-related condition | |
| | | Single nucleotide variant (nonsense +1 more) | SLC2A2-related condition | |
| | | Indel (frameshift variant +1 more) | SLC2A2-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi-Bickel syndrome | |
| | | Duplication (frameshift variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Duplication | Fanconi-Bickel syndrome | |
| | | Deletion | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | SLC2A2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | SLC2A2-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Deletion (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome | |
| | | Microsatellite (intron variant) | Fanconi-Bickel syndrome | |
| | | Deletion (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |