C4023141[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812907	Single allele	ABCG5	Deletion	Gingival bleeding +6 more	GLikely pathogenic
Select item 627364	NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)	TBXA2R (D238G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 626956	NM_001060.6(TBXA2R):c.340TTC[1] (p.Phe115del)	TBXA2R (F115del)	Microsatellite (inframe_deletion)	Impaired thromboxane A2 agonist-induced platelet aggregation	GUncertain significance

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