| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP8B1, ATP8B1-AS1 (P820R +1 more) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (M784fs +1 more) | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 1 | |
Click to view in NCBI Gene