"ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 953020	NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs)	ITGA2B (E1032fs)	Duplication (frameshift 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 2572659	NM_000419.5(ITGA2B):c.3070T>A (p.Phe1024Ile)	ITGA2B (F1024I)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 953057	NM_000419.5(ITGA2B):c.2965del (p.Ala989fs)	ITGA2B (A989fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
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 953019	NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter)	ITGA2B (R977*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 996173	NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs)	ITGA2B (T917fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 996203	NM_000419.5(ITGA2B):c.2637del (p.Ile880fs)	ITGA2B (I880fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1684318	NM_000419.5(ITGA2B):c.2417G>A (p.Ser806Asn)	ITGA2B (S806N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 2572147	NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)	ITGA2B (E796del)	Microsatellite (inframe_deletion)	Glanzmann thrombasthenia +1 more	GUncertain significance
Select item 225393	NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)	ITGA2B (Q778P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1684321	NM_000419.5(ITGA2B):c.2174del (p.Lys725fs)	ITGA2B (K725fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia 1	GPathogenic
Select item 1684322	NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer)	ITGA2B	Deletion (frameshift variant)	Glanzmann thrombasthenia 1	GPathogenic
Select item 1691477	NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro)	ITGA2B (L717P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 953058	NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg)	ITGA2B (C705R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 953033	NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)	ITGA2B (R628*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1684323	NM_000419.5(ITGA2B):c.1879-14A>G	ITGA2B	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 627020	NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	ITGA2B (D591A)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16 +3 more	GLikely pathogenic
Select item 953055	NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter)	ITGA2B (E538*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1703871	NM_000419.5(ITGA2B):c.1558A>C (p.Met520Leu)	ITGA2B (M520L)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 953002	NM_000419.5(ITGA2B):c.1440-13_1440-1del	ITGA2B	Deletion (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2572652	NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)	ITGA2B (D459N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +3 more	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 1703870	NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)	ITGA2B (P410H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GPathogenic
Select item 953004	NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr)	ITGA2B (I405T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1703865	NM_000419.5(ITGA2B):c.1210+609C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 2896	NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)	ITGA2B (R358H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2899	NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)	ITGA2B (E355K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 996200	NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)	ITGA2B (A341T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 953040	NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg)	ITGA2B (G296R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1703864	NM_000419.5(ITGA2B):c.800-1G>A	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia 1	GLikely pathogenic
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 627093	NM_000419.5(ITGA2B):c.559del (p.Val187fs)	ITGA2B (V187fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1703866	NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)	ITGA2B (R178P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 953000	NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)	ITGA2B (P176A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 953024	NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)	ITGA2B (S160R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1703867	NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)	ITGA2B (Q113*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 996185	NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter)	ITGA2B (W89*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1703868	NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)	ITGA2B (G69S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 1684324	NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)	ITGA2B (G47fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1703869	NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)	ITGA2B (L20R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43