NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)Pathogenic
Acute myeloid leukemia|DDX41-related hematologic malignancy predisposition syndrome|not provided|DDX41-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 140
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|not provided|Myelodysplasia|Bone marrow hypocellularity|DDX41-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 1
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|Inherited acute myeloid leukemia|Inborn genetic diseases|Focal segmental glomerulosclerosis 9
β
β
ββ2026β Residue 311
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)Pathogenic
Acute myeloid leukemia|not provided|DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β
β
ββ2026β Residue 48
NM_016222.4(DDX41):c.946_947del (p.Met316fs)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|DDX41-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 316
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)Pathogenic
Acute myeloid leukemia|DDX41-related hematologic malignancy predisposition syndrome|not provided|DDX41-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 529
NM_016222.4(DDX41):c.430del (p.Thr144fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2025β Residue 144
NM_016222.4(DDX41):c.1394del (p.Gly465fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 465
NM_016222.4(DDX41):c.1480_1496dup (p.Ala500fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2025β Residue 500
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter)Likely pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 36
NM_016222.4(DDX41):c.305_306del (p.Lys102fs)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 102
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|DDX41-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 41
NM_016222.4(DDX41):c.323del (p.Lys108fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 108
NM_016222.4(DDX41):c.244C>T (p.Gln82Ter)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2025β Residue 82
NM_016222.4(DDX41):c.1301del (p.Pro434fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 434
NM_016222.4(DDX41):c.1496del (p.Pro499fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 499
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β
β
ββ2025β Residue 90
NM_016222.4(DDX41):c.27+1G>ALikely pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025
NM_016222.4(DDX41):c.804del (p.Glu268fs)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β
β
ββ2025β Residue 268
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β
β
ββ2025β Residue 369