| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Junctional epidermolysis bullosa with pyloric atresia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of galactokinase +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Deficiency of galactokinase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of galactokinase +1 more | |
Click to view in NCBI Gene