CN300358[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50233	NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)	ITGA2B (R1026W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1030781	NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe)	ITGA2B (V329F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 13564	NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	EFCAB13-DT, ITGB3 (R750*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database

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