| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 1 +4 more | |
| | ATP8B1-AS1, ATP8B1 (R849Q +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
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