"VWA1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031419	NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	VWA1-related disorder	GLikely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related disorder	GLikely pathogenic

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