| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fanconi-Bickel syndrome | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Fanconi-Bickel syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Fanconi-Bickel syndrome | |
Click to view in NCBI Gene