| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP8B1, ATP8B1-AS1 (V908I +1 more) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Progressive familial intrahepatic cholestasis type 1 | |
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