| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Deletion (frameshift variant) | DDX41-related condition | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (intron variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Indel (frameshift variant) | DDX41-related hematologic malignancy predisposition syndrome | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | DDX41-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Microsatellite (frameshift variant) | DDX41-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +3 more | |
| | LOC107303340, VHL (L184P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | DDX41-related hematologic malignancy predisposition syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC107303340, VHL (L198P +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | LOC107303340, VHL (V166fs +1 more) | Deletion (frameshift variant +1 more) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +1 more | |
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (M211L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (R161Q +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Von Hippel-Lindau syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | LOC107303340, VHL (R161* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +3 more | |
| | LOC107303340, VHL (R167Q +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +5 more | GConflicting classifications of pathogenicity |