| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP8B1-AS1, ATP8B1 (L1052R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ATP8B1, ATP8B1-AS1 (R952* +1 more) | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 1 +1 more | |
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