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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(A2801T)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q2732R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2571Y)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S2401A)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(P2372S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(S2226F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(K2152R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C2150S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(E2149G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I2046V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(N2041K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(G1922E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(T1910I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Q1898H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I1677V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R1641K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R1527Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GConflicting classifications of pathogenicity
VWF
(D1472fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D1472N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VWF
(D1472fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(Q1388R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(E1359K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GPathogenic
VWF
(D1269E)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(D1269V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(D1269fs)
Insertion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(P1266Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
(V1230I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(W1120fs)
Insertion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(D1096H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(E1078K)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+1 more
GLikely pathogenic
VWF
(Q1053fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
(G994V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R760C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+2 more
GConflicting classifications of pathogenicity
VWF
(M728V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(H725R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(R639H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(C615fs)
Duplication
(frameshift variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 1
GPathogenic
VWF
(R324Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(M320I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(I317fs)
Deletion
(frameshift variant)
von Willebrand disease type 1
GLikely pathogenic
VWF
(A192V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
GUncertain significance
VWF
(Y113C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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