Related gene-specific medical variations for Gene (Select 3673) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286702	NM_002203.4(ITGA2):c.34C>A (p.Pro12Thr)	ITGA2, ITGA2-AS1 (P12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111185	NM_002203.4(ITGA2):c.25G>T (p.Ala9Ser)	ITGA2, ITGA2-AS1 (A9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2689259	NM_002203.4(ITGA2):c.1411A>G (p.Asn471Asp)	ITGA2 (N471D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2367605	NM_002203.4(ITGA2):c.14G>C (p.Arg5Pro)	ITGA2, ITGA2-AS1 (R5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1281037	NM_002203.4(ITGA2):c.64+305G>C	ITGA2, ITGA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279129	NM_002203.4(ITGA2):c.64+309_64+312del	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261291	NM_002203.4(ITGA2):c.64+283CA[12]	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1253474	NM_002203.4(ITGA2):c.64+283CA[13]	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 931218	NM_002203.4(ITGA2):c.2427dup (p.Gln810fs)	ITGA2 (Q810fs)	Duplication (frameshift variant +1 more)	See cases	GUncertain significance
Select item 904498	NM_002203.4(ITGA2):c.-35C>T	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904497	NM_002203.4(ITGA2):c.-89T>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353731	NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly)	ITGA2, ITGA2-AS1 (E4G)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353730	NM_002203.4(ITGA2):c.-13G>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353729	NM_002203.4(ITGA2):c.-99G>C	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance