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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX41
(R525H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(A374fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DDX41
(Y133C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related disorder
+1 more
GUncertain significance
DDX41
(G173R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GPathogenic/Likely pathogenic
DDX41
(V152G +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
Gnot provided
DDX41
Duplication
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DDX41
(Q41*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related disorder
+2 more
GPathogenic
DDX41
(S21fs)
Deletion
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
Gnot provided
DDX41
(E7*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
Gnot provided
DDX41
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GPathogenic/Likely pathogenic
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