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Links from MedGen

Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX41
(G175V +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(C294F +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(Y154C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(S140L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R150C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R353W +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(L153R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E2Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R222C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(D75N)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(K261Q +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E24D)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(L264F +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E121D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(G187D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(D30A)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E121K +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(P125A +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(K134E +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R71Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(V378I +1 more)
Single nucleotide variant
(missense variant)
DDX41-related disorder
+1 more
GUncertain significance
DDX41
(G123S)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(G49D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(Y151H +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(I298T +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(P35L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
DDX41
(E5*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
DDX41
Single nucleotide variant
(splice donor variant)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
DDX41
(I192fs +1 more)
Deletion
(frameshift variant)
DDX41-related disorder
+1 more
GLikely pathogenic
DDX41
(P373fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DDX41
(G19*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
DDX41
(Y36*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
DDX41
(P112S +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E69D)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(S23F)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(G211D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(S68R)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(I311V +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R156H +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(M115T +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(Q159E +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(K294R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(V188I +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(G72R)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(F372L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(I349F +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R8W)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R156C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(T11M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(A169T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(D30N)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(L124V +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GConflicting classifications of pathogenicity
DDX41
(E350D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(P70S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related disorder
+1 more
GUncertain significance
DDX41
(H491R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(R167H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(R141W +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(R219H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(R129H +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(G187S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(P195L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(splice acceptor variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(I142fs +1 more)
Deletion
(frameshift variant)
DDX41-related disorder
GLikely pathogenic
DDX41
(D444G +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(R243Q +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(A250T +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(G461C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(G276W +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(G404D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(A220P +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(E219D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(P213R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
(S237del +1 more)
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
GPathogenic
DDX41
(F409fs +1 more)
Indel
(frameshift variant)
DDX41-related hematologic malignancy predisposition syndrome
GPathogenic
DDX41
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
DDX41
(D218Y +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GConflicting classifications of pathogenicity
DDX41
(P206A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(L326fs +1 more)
Deletion
(frameshift variant)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
DDX41
(G67R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
DDX41
(I54V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DDX41
(Q63H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DDX41
(R22H)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(L193V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(P38R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
DDX41
(E28K)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(R36C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(E426K +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(A270V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
(V286I +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(T236M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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