"GeneDx"[submitter] AND "ITGA2B"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 256040	NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=)	ITGA2B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 546266	NM_000419.5(ITGA2B):c.3061-7C>G	ITGA2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 381747	NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met)	ITGA2B (V982M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1302939	NM_000419.5(ITGA2B):c.2705G>A (p.Arg902Lys)	ITGA2B (R902K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891	NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser)	ITGA2B (I874S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1248484	NM_000419.5(ITGA2B):c.2267+134G>A	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236748	NM_000419.5(ITGA2B):c.2267+107A>G	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244083	NM_000419.5(ITGA2B):c.2267+35T>C	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256039	NM_000419.5(ITGA2B):c.2188-7C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1241570	NM_000419.5(ITGA2B):c.2188-123dup	ITGA2B	Duplication (intron variant)	not provided	GBenign
Select item 1224548	NM_000419.5(ITGA2B):c.2187+260G>A	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244498	NM_000419.5(ITGA2B):c.2187+93G>T	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282837	NM_000419.5(ITGA2B):c.2187+35_2187+43del	ITGA2B	Deletion (intron variant)	not provided	GBenign
Select item 1262677	NM_000419.5(ITGA2B):c.2095-251_2095-249del	ITGA2B	Microsatellite (intron variant)	not provided	GBenign
Select item 2961313	NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)	ITGA2B (N670K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1178682	NM_000419.5(ITGA2B):c.1879-258G>A	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710582	NM_000419.5(ITGA2B):c.1459_1506del (p.Ala487_Lys502del)	ITGA2B	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 381748	NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)	ITGA2B (G412R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1180145	NM_000419.5(ITGA2B):c.1211-286dup	ITGA2B	Duplication (intron variant)	not provided	GBenign
Select item 426669	NM_000419.5(ITGA2B):c.1072C>T (p.Arg358Cys)	ITGA2B (R358C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 393125	NM_000419.5(ITGA2B):c.1061C>A (p.Ala354Asp)	ITGA2B (A354D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252316	NM_000419.5(ITGA2B):c.847+5G>C	ITGA2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1210191	NM_000419.5(ITGA2B):c.800-2A>G	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1264416	NM_000419.5(ITGA2B):c.800-153C>G	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
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 1229621	NM_000419.5(ITGA2B):c.575-56G>T	ITGA2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302709	NM_000419.5(ITGA2B):c.185G>A (p.Gly62Glu)	ITGA2B (G62E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304284	NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala)	ITGA2B (T40A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +2 more	GUncertain significance
Select item 430539	NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter)	ITGA2B (W30*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database

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Items: 31