| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hemorrhage, intracerebral, susceptibility to +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Renal tubular dysgenesis +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene