| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AMACR, C1QTNF3-AMACR (S130*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AMACR, C1QTNF3-AMACR (S52P) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene