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Links from MedGen

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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 hematologic malignancy predisposition syndrome
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)
not provided
+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
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
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)
not provided
+1 more
GConflicting classifications of pathogenicity
DDX41
(E350D +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
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)
DDX41-related hematologic malignancy predisposition syndrome
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)
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 condition
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)
DDX41-related hematologic malignancy predisposition syndrome
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)
DDX41-related hematologic malignancy predisposition syndrome
GPathogenic
DDX41
(D218Y +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GConflicting classifications of pathogenicity
DDX41
(I54V +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+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)
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
(V286I +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(I114V +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(L157fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DDX41
(V177M +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(Q90*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GPathogenic/Likely pathogenic
DDX41
(T194I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX41
(Q203fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DDX41
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DDX41
(P132L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GLikely pathogenic
DDX41
(Y33H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
DDX41
(Y390C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related condition
+2 more
GUncertain significance
DDX41
(E219K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX41
(R167C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GUncertain significance
DDX41
(S66R)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
DDX41
(V171L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
DDX41
(A191T +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GConflicting classifications of pathogenicity
DDX41
(R159* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DDX41
(I215L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(R185* +1 more)
Single nucleotide variant
(nonsense)
DDX41-related hematologic malignancy predisposition syndrome
+3 more
GConflicting classifications of pathogenicity
DDX41
(T13I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
DDX41
(A374fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DDX41
(Y133C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related condition
GUncertain significance
DDX41
(V152G +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
Gnot provided
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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DDX41
(E2D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DDX41
(M155I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
DDX41
(G218D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDX41
(K255* +1 more)
Single nucleotide variant
(nonsense)
DDX41-related condition
+1 more
GPathogenic
DDX41
(M190fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DDX41
(S217P +1 more)
Single nucleotide variant
(missense variant)
DDX41-related condition
+2 more
GConflicting classifications of pathogenicity
DDX41
(K102fs)
Deletion
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GPathogenic/Likely pathogenic
DDX41
(R353Q +1 more)
Single nucleotide variant
(missense variant)
DDX41-related condition
+2 more
GUncertain significance
DDX41
(G173R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GPathogenic/Likely pathogenic
DDX41
(T403fs +1 more)
Microsatellite
(frameshift variant)
DDX41-related condition
+2 more
GPathogenic/Likely pathogenic
DDX41
(K430N +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
(E122*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GConflicting classifications of pathogenicity
DDX41
(Q41*)
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related condition
+2 more
GPathogenic
DDX41
Single nucleotide variant
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GUncertain significance
DDX41
(K108fs)
Deletion
(5 prime UTR variant +1 more)
DDX41-related hematologic malignancy predisposition syndrome
GPathogenic
DDX41
(R339L +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GLikely pathogenic
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