| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (genic upstream transcript variant +2 more) | Cholestasis-edema syndrome, Norwegian type | |
| | | Duplication (frameshift variant) | Cholestasis-edema syndrome, Norwegian type +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
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