| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AMACR, C1QTNF3-AMACR (P296L) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital bile acid synthesis defect 4 +3 more | |
| | AMACR, C1QTNF3-AMACR (E282Q) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | C1QTNF3-AMACR, AMACR (M261I) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +2 more | |
| | AMACR, C1QTNF3-AMACR (M261T) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +3 more | |
| | AMACR, C1QTNF3-AMACR (R61P) | Single nucleotide variant (missense variant) | not provided +2 more | |
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