Related gene-specific medical variations for Gene (Select 3674) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242918	NC_000017.10:g.(?_42454357)_(42456098_?)del	ITGA2B	Deletion	Glanzmann thrombasthenia	GPathogenic
Select item 3065735	NM_000419.5(ITGA2B):c.2422G>A (p.Gly808Arg)	ITGA2B (G808R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 2963888	NM_000419.5(ITGA2B):c.408+11C>T	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2891222	NM_000419.5(ITGA2B):c.408+7C>T	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2674650	NM_000419.5(ITGA2B):c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG (p.Val825fs)	ITGA2B (V825fs)	Indel (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2674649	NM_000419.5(ITGA2B):c.1392A>G (p.Pro464=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2674648	NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser)	ITGA2B (C96S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2627090	NM_000419.5(ITGA2B):c.1727G>C (p.Cys576Ser)	ITGA2B (C576S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 2506415	NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)	ITGA2B, LOC130060983 (D133E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2432887	NM_000419.5(ITGA2B):c.3088C>T (p.Pro1030Ser)	ITGA2B (P1030S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691478	NM_000419.5(ITGA2B):c.408G>C (p.Val136=)	ITGA2B, LOC130060983	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1691456	NM_000419.5(ITGA2B):c.408+11C>A	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1687232	NM_000419.5(ITGA2B):c.409-3C>G	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1684423	NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del	ITGA2B	Deletion	Glanzmann thrombasthenia 1	GLikely pathogenic
Select item 1677036	NM_000419.5(ITGA2B):c.408+16C>T	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 988822	NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter)	ITGA2B (K726*)	Single nucleotide variant (nonsense)	Abnormal bleeding +1 more	GPathogenic
Select item 953006	NM_000419.5(ITGA2B):c.409-24C>T	ITGA2B, LOC130060983	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 854735	NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)	ITGA2B, LOC130060983 (C138*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GLikely pathogenic 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