| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | |
| | | Single nucleotide variant (missense variant +1 more) | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more | GPathogenic/Likely pathogenic |
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