| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
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