"Department of Laboratory Medicine, Ruijin Hospital"[submitter] AND "V - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1315530	NM_000552.5(VWF):c.8116-2del	VWF	Deletion (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315523	NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro)	VWF (S2179P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 993160	NM_000552.5(VWF):c.5171-9del	VWF	Deletion (intron variant)	not specified	GBenign
Select item 1315529	NM_000552.5(VWF):c.2968-14A>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GPathogenic
Select item 1315528	NM_000552.5(VWF):c.2684A>G (p.Gln895Arg)	VWF (Q895R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 1315527	NM_000552.5(VWF):c.2547-13T>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GPathogenic
Select item 1315526	NM_000552.5(VWF):c.1534-13_1551delinsCA	VWF	Indel (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315525	NM_000552.5(VWF):c.323+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315524	NM_000552.5(VWF):c.322A>T (p.Arg108Ter)	VWF (R108*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1	GPathogenic
Select item 1315522	NM_000552.5(VWF):c.221-2A>C	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 1	GPathogenic