| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Thrombotic microangiopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | CD46-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene