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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(W191C)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
GLikely pathogenic
VWF
(L1282P)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+2 more
GConflicting classifications of pathogenicity
VWF
(R2663C)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
+1 more
GPathogenic/Likely pathogenic
VWF
(P1266L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
(V1314L)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
GPathogenic
VWF
(R1341Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+1 more
GPathogenic
VWF
(V1316M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
+6 more
GPathogenic
VWF
(R1308C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
VWF
(R1306W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
VWF
(W1313C)
Single nucleotide variant
(missense variant)
Von Willebrand disease type 2B
GPathogenic
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