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