| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hepatomegaly +16 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +11 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Aplastic anemia +7 more | |
Click to view in NCBI Gene