U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(T2647M)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+4 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 2
GUncertain significance
VWF
(P2063S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
VWF
(R1853*)
Single nucleotide variant
(nonsense)
Hereditary von Willebrand disease
+3 more
GPathogenic
VWF
(R1779*)
Single nucleotide variant
(nonsense)
See cases
+2 more
GPathogenic
VWF
(I1628T)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
+3 more
GPathogenic
VWF
(Y1584C)
Single nucleotide variant
(missense variant)
Thrombus
+7 more
GConflicting classifications of pathogenicity; risk factor
VWF
(R1569C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VWF
(R1564W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
VWF
(P1462A)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(G1417W)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(I1416T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
VWF
(R1399H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GConflicting classifications of pathogenicity
VWF
(R1379C)
Single nucleotide variant
(missense variant)
VWF-related disorder
+4 more
GPathogenic/Likely pathogenic
VWF
(R1374H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+7 more
GPathogenic
VWF
(R1374C)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+2 more
GPathogenic
VWF
(I1343V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VWF
(G1324S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
VWF
(V1316M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GPathogenic
VWF
(R1315H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VWF
(R1306W)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+4 more
GPathogenic/Likely pathogenic
VWF
(L1282P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VWF
(P1266L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+5 more
GConflicting classifications of pathogenicity
VWF
(A1250G)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GUncertain significance
VWF
(C1173R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(C1126R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(V1083I)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(Q1053H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(R924Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 1
+4 more
GConflicting classifications of pathogenicity
VWF
(A873V)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(R854Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+8 more
GPathogenic/Likely pathogenic
VWF
(P691fs)
Deletion
(frameshift variant)
von Willebrand disease type 2
GPathogenic
VWF
(Y629S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GUncertain significance
VWF
(D93*)
Duplication
(nonsense)
von Willebrand disease type 2
GPathogenic
VWF
(R34*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 2
GPathogenic
Format
Items per page
Sort by
Choose Destination