| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AMACR, C1QTNF3-AMACR (L385V) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | AMACR, C1QTNF3-AMACR (M261T) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital bile acid synthesis defect 4 +3 more | |
| | AMACR, C1QTNF3-AMACR (M261L) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | AMACR, C1QTNF3-AMACR (V185A) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | AMACR, C1QTNF3-AMACR (L149I) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency +1 more | |
Click to view in NCBI Gene