Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 | |
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 | |
| | | Single nucleotide variant (nonsense) | Bile acid conjugation defect 1 | |
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 | |
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 | |
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Bile acid conjugation defect 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bile acid conjugation defect 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Bile acid conjugation defect 1 | |
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