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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(S1285F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2M
GPathogenic
VWF
(G1324S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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