"Center for Genomic Medicine, Rigshospitalet, Copenhagen University Ho - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692179	NM_000552.5(VWF):c.8165del (p.Pro2722fs)	VWF (P2722fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2692180	NM_000552.5(VWF):c.8143T>A (p.Cys2715Ser)	VWF (C2715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802814	NM_000552.5(VWF):c.8027G>T (p.Cys2676Phe)	VWF (C2676F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2692181	NM_000552.5(VWF):c.6334C>T (p.Gln2112Ter)	VWF (Q2112*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2692182	NM_000552.5(VWF):c.5312-2_5312-1del	VWF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 100420	NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	VWF (S1731T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 100279	NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	VWF (P1266Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GConflicting classifications of pathogenicity
Select item 627186	NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +2 more	GPathogenic/Likely pathogenic
Select item 2576414	NM_000552.5(VWF):c.3175T>C (p.Ser1059Pro)	VWF (S1059P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	VWF-related condition +8 more	GPathogenic/Likely pathogenic
Select item 2576415	NM_000552.5(VWF):c.2094G>T (p.Arg698Ser)	VWF (R698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576417	NM_000552.5(VWF):c.2067C>A (p.Cys689Ter)	VWF (C689*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 100175	NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)	VWF (R373*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease +1 more	GPathogenic