"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627299	NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp)	ITGA2B (E1033D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 50232	NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)	ITGA2B (R1026Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
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 627296	NM_000419.5(ITGA2B):c.3060+2T>C	ITGA2B	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627293	NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg)	ITGA2B (W999R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627292	NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)	ITGA2B (W998fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627052	NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)	ITGA2B (F961fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627046	NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser)	ITGA2B (T917S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627288	NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg)	ITGA2B (C857R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627284	NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)	ITGA2B (G836A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 626927	NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	ITGA2B (R782*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627273	NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)	ITGA2B (L717fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627027	NM_000419.5(ITGA2B):c.1973del (p.Ala658fs)	ITGA2B (A658fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 627020	NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	ITGA2B (D591A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627239	NM_000419.5(ITGA2B):c.1440-1G>A	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 626981	NM_000419.5(ITGA2B):c.1211-1G>C	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 626980	NM_000419.5(ITGA2B):c.1210+105A>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 627218	NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)	ITGA2B (D396N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 626948	NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)	ITGA2B	Deletion (inframe_indel)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 812734	NM_000419.5(ITGA2B):c.998+1G>C	ITGA2B	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627103	NM_000419.5(ITGA2B):c.624+5G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627098	NM_000419.5(ITGA2B):c.574+5G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627093	NM_000419.5(ITGA2B):c.559del (p.Val187fs)	ITGA2B (V187fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627063	NM_000419.5(ITGA2B):c.409-1G>A	ITGA2B, LOC130060983	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 627268	NM_000419.5(ITGA2B):c.188+5G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database

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Items: 25