C5442010[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374016	NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)	ITGB3 (D250G)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 374015	NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)	ITGB3 (Q567*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database