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Items: 28

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
(T2622fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 3
+1 more
GLikely pathogenic
VWF
(C2557fs)
Insertion
(frameshift variant)
von Willebrand disorder
+1 more
GPathogenic/Likely pathogenic
VWF
(C2477R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
GUncertain significance
VWF
(Q2470*)
Single nucleotide variant
(nonsense)
Hereditary von Willebrand disease
GPathogenic/Likely pathogenic
VWF
(Q2467*)
Single nucleotide variant
(nonsense)
von Willebrand disease type 3
GLikely pathogenic
VWF
(C2418fs)
Microsatellite
(frameshift variant)
von Willebrand disease type 3
GPathogenic
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
GUncertain significance
VWF
(T1951A)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+6 more
GConflicting classifications of pathogenicity
VWF
(R1853*)
Single nucleotide variant
(nonsense)
Abnormality of blood and blood-forming tissues
+4 more
GPathogenic
VWF
(V1316M)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+6 more
GPathogenic
VWF
(V1229G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
(C1190R)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+2 more
GPathogenic/Likely pathogenic
VWF
(T1156M)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+3 more
GPathogenic/Likely pathogenic
VWF
Single nucleotide variant
(splice donor variant)
Hereditary von Willebrand disease
GPathogenic
VWF
(N857S)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
GUncertain significance
VWF
(R854Q)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2N
+7 more
GPathogenic/Likely pathogenic
VWF
(G839fs)
Deletion
(frameshift variant)
von Willebrand disease type 3
GLikely pathogenic
VWF
Single nucleotide variant
(splice acceptor variant)
von Willebrand disease type 3
+1 more
GPathogenic/Likely pathogenic
VWF
(P812fs)
Deletion
(frameshift variant)
Abnormal bleeding
+5 more
GPathogenic
VWF
(A641V)
Single nucleotide variant
(missense variant)
Hemorrhage
+3 more
GConflicting classifications of pathogenicity
VWF
(A542G)
Single nucleotide variant
(missense variant)
VWF-related disorder
+6 more
GConflicting classifications of pathogenicity
VWF
Single nucleotide variant
(intron variant)
von Willebrand disease type 3
+4 more
GConflicting classifications of pathogenicity
VWF
Deletion
(splice acceptor variant +1 more)
von Willebrand disease type 3
GLikely pathogenic
VWF
(L150P)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
GLikely pathogenic
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