"Genetic Services Laboratory, University of Chicago"[submitter] AND "I - ClinVar - NCBI

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Items: 13

	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 435530	NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 323544	NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met)	ITGA2B (L872M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1337758	NM_000419.5(ITGA2B):c.2252A>G (p.Gln751Arg)	ITGA2B (Q751R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337855	NM_000419.5(ITGA2B):c.2167C>T (p.Pro723Ser)	ITGA2B (P723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435532	NM_000419.5(ITGA2B):c.2095G>A (p.Gly699Ser)	ITGA2B (G699S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 323549	NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu)	ITGA2B (V649L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 323550	NM_000419.5(ITGA2B):c.1848G>A (p.Val616=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 323553	NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp)	ITGA2B (R543W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1336530	NM_000419.5(ITGA2B):c.1210+8A>G	ITGA2B	Single nucleotide variant (intron variant)	ITGA2B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1338098	NM_000419.5(ITGA2B):c.1052G>A (p.Arg351Gln)	ITGA2B (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435531	NM_000419.5(ITGA2B):c.867C>G (p.Pro289=)	ITGA2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 242484	NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val)	ITGA2B (L147V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database