C4024701[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812908	NM_139279.6(MCFD2):c.-6-1668_*2631del	MCFD2	Deletion (stop lost +4 more)	Reduced von Willebrand factor activity +1 more	GLikely pathogenic
Select item 308	NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	VWF (R1205H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GPathogenic
Select item 626960	NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)	VWF (C1190Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 626934	NM_000552.5(VWF):c.658-3C>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +4 more	GConflicting classifications of pathogenicity
Select item 812910	NM_000552.5(VWF):c.221-1680_533-7312del	VWF	Deletion (splice acceptor variant +1 more)	Reduced quantity of Von Willebrand factor +1 more	GLikely pathogenic
Select item 812911	NM_000552.5(VWF):c.221-977_532+7060del	VWF	Deletion (splice acceptor variant +1 more)	Reduced quantity of Von Willebrand factor +1 more	GLikely pathogenic

ClinVar