| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | |
| | | Single nucleotide variant (intron variant) | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene