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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
Deletion
(splice acceptor variant +1 more)
Reduced quantity of Von Willebrand factor
+1 more
GLikely pathogenic
VWF
Deletion
(splice acceptor variant +1 more)
Reduced quantity of Von Willebrand factor
+1 more
GLikely pathogenic
MCFD2
Deletion
(stop lost +4 more)
Reduced von Willebrand factor activity
+1 more
GLikely pathogenic
VWF
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
VWF
(R1205H)
Single nucleotide variant
(missense variant)
VWF-related condition
+3 more
GPathogenic
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