C1280798[trait identifier] AND "ISTH-SSC Genomics in Thrombosis and He - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684362	NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln)	GP1BA (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684364	NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu)	GP1BA (W246L)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
Select item 1677263	NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp)	GP1BA (G249D)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
Select item 4153	NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)	GP1BA (G249V)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic/Likely pathogenic
Select item 4155	NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	GP1BA (M255V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1677262	NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr)	GP1BA (D265Y)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
Select item 1677260	NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp)	GP1BA	Deletion (inframe_indel)	Pseudo von Willebrand disease	GPathogenic
Select item 1338214	NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	LOC130060044, GP1BA (N616fs)	Deletion (frameshift variant)	GP1BA-related condition +6 more	GUncertain significance

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