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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
(Y365C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
VWF
(D1472H)
Single nucleotide variant
(missense variant)
von Willebrand disease type 3
+6 more
GBenign/Likely benign
VWF
(K1408del)
Microsatellite
(inframe_deletion)
Hereditary von Willebrand disease
+3 more
GPathogenic/Likely pathogenic
VWF
(R1374H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
VWF
(G1180R)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+1 more
GPathogenic/Likely pathogenic
VWF
(R854Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+8 more
GPathogenic/Likely pathogenic
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
(I1628T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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