C5703318[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100436	NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	VWF (P2063S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 100420	NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	VWF (S1731T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GConflicting classifications of pathogenicity
Select item 310	NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	VWF (Y1584C)	Single nucleotide variant (missense variant)	von Willebrand disorder +7 more	GConflicting classifications of pathogenicity; risk factor
Select item 256680	NM_000552.5(VWF):c.4641T>C (p.Thr1547=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 100337	NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	VWF (R1399C)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 314	NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	VWF (P1266L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 505760	NM_000552.5(VWF):c.3179del (p.Cys1060fs)	VWF (C1060fs)	Deletion (frameshift variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3075892	NM_000552.5(VWF):c.2968-1G>A	VWF	Single nucleotide variant (splice acceptor variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	Abnormality of coagulation +7 more	GPathogenic/Likely pathogenic
Select item 100228	NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)	VWF (R854W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 295	NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	VWF (R816W)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GPathogenic/Likely pathogenic
Select item 3075979	NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)	VWF (W502*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3075940	NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)	VWF (S394*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GLikely pathogenic