| | | Copy number gain | See cases | |
| | LOC129937944, LOC129937945 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389166, LOC129389167 +306 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1041 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Deletion (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Deletion (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Deletion (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Deletion (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Deletion (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi-Bickel syndrome | |
| | | Duplication (no sequence alteration) | Fanconi-Bickel syndrome | |
| | | Deletion (no sequence alteration) | Fanconi-Bickel syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Indel (missense variant) | Type 2 diabetes mellitus +1 more | |
| | | Single nucleotide variant (missense 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) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Type 2 diabetes mellitus +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (intron variant) | SLC2A2-related condition +1 more | |
| | | Duplication (splice donor variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (nonsense) | Fanconi-Bickel syndrome | |
| | | Microsatellite (frameshift variant) | Fanconi-Bickel syndrome | |
| | | Duplication (frameshift variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (nonsense) | Type 2 diabetes mellitus | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Deletion (frameshift variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (nonsense) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | SLC2A2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | SLC2A2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | |
| | | Deletion (frameshift variant) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |