| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCB11, LOC126806400 (S945N) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC126806400, ABCB11 (R928Q) | Single nucleotide variant (missense variant) | ABCB11-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCB11-related disorder +1 more | GConflicting classifications of pathogenicity |
| | ABCB11, LOC126806400 (T917R) | Single nucleotide variant (missense variant) | ABCB11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ABCB11-related disorder +1 more | |
| | ABCB11, LOC126806400 (I891N) | Single nucleotide variant (missense variant) | ABCB11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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