| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Deletion (5 prime UTR variant +1 more) | DDX41-related hematologic malignancy predisposition syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene