C1264039[trait identifier] AND "Center For Human Genetics And Laborato - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298394	NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys)	VWF (Y2483C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2573079	NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)	VWF (P1551L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2573080	NM_000552.5(VWF):c.270A>C (p.Glu90Asp)	VWF (E90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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ClinVar