"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931248	NM_000552.5(VWF):c.7770+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 2	GPathogenic
Select item 100330	NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	VWF (R1374H)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2A +7 more	GPathogenic
Select item 931546	NM_000552.5(VWF):c.2442+1G>A	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 2	GUncertain significance

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