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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(R1374H)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+7 more
GPathogenic
VWF
(G1180R)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
+1 more
GPathogenic/Likely pathogenic
VWF
Insertion
(inframe_insertion)
Von Willebrand disease type 2A
GPathogenic
VWF
(N528S)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GPathogenic/Likely pathogenic
VWF
(C2773R)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
GPathogenic
VWF
(G550R)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
GPathogenic
VWF
(F1514C)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
GPathogenic
VWF
(C1272R)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GPathogenic
VWF
(S1613P)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2A
GPathogenic
VWF
(V1607D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
VWF
(R1597W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
VWF
(I1628T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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