ITGA2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +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 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1691489	NM_000419.5(ITGA2B):c.*165T>C	ITGA2B	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 323540	NM_000419.5(ITGA2B):c.*150C>A	ITGA2B	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GLikely benign
Select item 891015	NM_000419.5(ITGA2B):c.*120T>C	ITGA2B	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323541	NM_000419.5(ITGA2B):c.*51C>T	ITGA2B	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GLikely benign
Select item 952996	NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?)	ITGA2B	Duplication (frameshift variant +1 more)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 2573405	NM_000419.5(ITGA2B):c.3102TGA[1] (p.Asp1035del)	ITGA2B (D1035del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 2782451	NM_000419.5(ITGA2B):c.3101A>T (p.Asp1034Val)	ITGA2B (D1034V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
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 953020	NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs)	ITGA2B (E1032fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1691488	NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs)	ITGA2B (L1031fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1879040	NM_000419.5(ITGA2B):c.3091del (p.Leu1031fs)	ITGA2B (L1031fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 891016	NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
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 2177249	NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln)	ITGA2B (R1028Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2629692	NM_000419.5(ITGA2B):c.3077G>T (p.Arg1026Leu)	ITGA2B (R1026L)	Single nucleotide variant (missense variant)	ITGA2B-related condition	GUncertain significance
Select item 996160	NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala)	ITGA2B (R1026A)	Indel (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 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 256040	NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia +3 more	GBenign
Select item 1330348	NM_000419.5(ITGA2B):c.3062T>C (p.Val1021Ala)	ITGA2B (V1021A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2888673	NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)	ITGA2B (V1021F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 1879037	NM_000419.5(ITGA2B):c.3061-1G>A	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 892239	NM_000419.5(ITGA2B):c.3061-4C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GConflicting classifications of pathogenicity
Select item 2181613	NM_000419.5(ITGA2B):c.3061-5C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 1879020	NM_000419.5(ITGA2B):c.3061-6C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 546266	NM_000419.5(ITGA2B):c.3061-7C>G	ITGA2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2174060	NM_000419.5(ITGA2B):c.3061-13C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2966421	NM_000419.5(ITGA2B):c.3060+17G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2980743	NM_000419.5(ITGA2B):c.3060+16C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
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 1691471	NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2891532	NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 1697251	NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val)	ITGA2B (G1007V)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 996167	NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)	ITGA2B (G1007fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 2723384	NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 627293	NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg)	ITGA2B (W999R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 2498365	NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)	ITGA2B (W998*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2570990	NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)	ITGA2B (W998L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +1 more	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 1695976	NM_000419.5(ITGA2B):c.2982del (p.Ile995fs)	ITGA2B (I995fs)	Deletion (frameshift variant)	Platelet-type bleeding disorder 16	GUncertain significance
Select item 2492604	NM_000419.5(ITGA2B):c.2980G>A (p.Ala994Thr)	ITGA2B (A994T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2792131	NM_000419.5(ITGA2B):c.2979G>A (p.Arg993=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 977130	NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs)	ITGA2B (E992fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 953039	NM_000419.5(ITGA2B):c.2975del (p.Glu992fs)	ITGA2B (E992fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
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 417951	NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)	ITGA2B (A989T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 892240	NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln)	ITGA2B (R988Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3111199	NM_000419.5(ITGA2B):c.2962C>T (p.Arg988Trp)	ITGA2B (R988W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330320	NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter)	ITGA2B (Q985*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 952998	NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys)	ITGA2B (T984K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1803209	NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign 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 2716851	NM_000419.5(ITGA2B):c.2944-7C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3014085	NM_000419.5(ITGA2B):c.2944-17C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2065661	NM_000419.5(ITGA2B):c.2943+18G>A	ITGA2B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2963623	NM_000419.5(ITGA2B):c.2943+11G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2898608	NM_000419.5(ITGA2B):c.2943+9G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2890806	NM_000419.5(ITGA2B):c.2943+3G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2498349	NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)	ITGA2B (Q981*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2498366	NM_000419.5(ITGA2B):c.2933G>T (p.Gly978Val)	ITGA2B (G978V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2908097	NM_000419.5(ITGA2B):c.2930G>A (p.Arg977Gln)	ITGA2B (R977Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 1330312	NM_000419.5(ITGA2B):c.2929_2930del (p.Glu979fs)	ITGA2B (E979fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 953016	NM_000419.5(ITGA2B):c.2930del (p.Arg977fs)	ITGA2B (R977fs)	Deletion (frameshift 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 971253	NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs)	ITGA2B (P972fs)	Indel (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 953045	NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs)	ITGA2B (L973fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 435530	NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1210173	NM_000419.5(ITGA2B):c.2898_2902dup (p.Tyr968fs)	ITGA2B (Y968fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1691485	NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs)	ITGA2B (Y968fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2477580	NM_000419.5(ITGA2B):c.2894C>G (p.Ser965Cys)	ITGA2B (S965C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 627052	NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)	ITGA2B (F961fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 323542	NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2902	NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)	ITGA2B (S957L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 952997	NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)	ITGA2B (L955Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 892241	NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GConflicting classifications of pathogenicity
Select item 953021	NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs)	ITGA2B (D951fs)	Indel (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2858704	NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 1879019	NM_000419.5(ITGA2B):c.2842-1G>C	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2972721	NM_000419.5(ITGA2B):c.2841+13_2841+33del	ITGA2B	Deletion (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2055913	NM_000419.5(ITGA2B):c.2841+1GTGGG[3]	ITGA2B	Microsatellite (splice donor variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2584931	NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)	ITGA2B (L940R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 2761944	NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 996165	NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe)	ITGA2B (V934F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 2756719	NM_000419.5(ITGA2B):c.2794G>A (p.Ala932Thr)	ITGA2B (A932T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 1049633	NM_000419.5(ITGA2B):c.2780C>T (p.Ala927Val)	ITGA2B (A927V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682594	NM_000419.5(ITGA2B):c.2773G>A (p.Glu925Lys)	ITGA2B (E925K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2169142	NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 1691475	NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter)	ITGA2B (Q924*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2182972	NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val)	ITGA2B (L923V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2628094	NM_000419.5(ITGA2B):c.2761T>C (p.Cys921Arg)	ITGA2B (C921R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
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 627046	NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser)	ITGA2B (T917S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 2886851	NM_000419.5(ITGA2B):c.2747G>A (p.Cys916Tyr)	ITGA2B (C916Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2915600	NM_000419.5(ITGA2B):c.2742G>A (p.Ala914=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign

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