| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Imerslund-Grasbeck syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene