"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "VWF"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100428	NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser)	VWF (N1818S)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GUncertain significance
Select item 3367148	NM_000552.5(VWF):c.5223T>G (p.Ile1741Met)	VWF (I1741M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2585344	NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)	VWF (P1684R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 281927	NM_000552.5(VWF):c.4927G>A (p.Gly1643Ser)	VWF (G1643S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100279	NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	VWF (P1266Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 2584907	NM_000552.5(VWF):c.2442+5G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 3341396	NM_000552.5(VWF):c.1433G>A (p.Gly478Asp)	VWF (G478D)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 3235047	NM_000552.5(VWF):c.953A>G (p.Asn318Ser)	VWF (N318S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 100204	NM_000552.5(VWF):c.212C>A (p.Ser71Ter)	VWF (S71*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GLikely pathogenic
Select item 100432	NM_000552.5(VWF):c.55G>A (p.Gly19Arg)	VWF (G19R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity