| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant +1 more) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Deletion (splice acceptor variant +2 more) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Duplication | Progressive familial intrahepatic cholestasis type 1 | |
Click to view in NCBI Gene