"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "ITGA2B"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584931	NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)	ITGA2B (L940R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 2584924	NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)	ITGA2B (L855fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia 1	GLikely pathogenic
Select item 2584855	NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)	ITGA2B (R774W)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 977128	NM_000419.5(ITGA2B):c.1752+2T>C	ITGA2B	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2671686	NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)	ITGA2B (R547C)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16 +1 more	GUncertain significance
Select item 1803116	NM_000419.5(ITGA2B):c.1545-1G>A	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2901	NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)	ITGA2B (L214P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1339143	NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys)	ITGA2B (Y197C)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance