ClinVar for MedGen (Select 52736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075922	NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)	ITGA2B (Y197*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GLikely pathogenic
Select item 3075873	NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)	ITGB3 (Y695*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GLikely pathogenic
Select item 3075872	NM_000419.5(ITGA2B):c.189-1G>C	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenic
Select item 3023221	NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3020223	NM_000419.5(ITGA2B):c.188+17G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3019571	NM_000419.5(ITGA2B):c.1716C>T (p.His572=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3018958	NM_000419.5(ITGA2B):c.91G>A (p.Ala31Thr)	ITGA2B (A31T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3017175	NM_000419.5(ITGA2B):c.2426C>T (p.Pro809Leu)	ITGA2B (P809L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3016937	NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3015816	NM_000419.5(ITGA2B):c.1210+9del	ITGA2B	Deletion (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3015798	NM_000419.5(ITGA2B):c.351C>T (p.Thr117=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3015618	NM_000419.5(ITGA2B):c.671-10C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3014566	NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)	ITGA2B	Single nucleotide variant (synonymous 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 3013665	NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3013664	NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3013451	NM_000419.5(ITGA2B):c.209C>T (p.Ala70Val)	ITGA2B (A70V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3008011	NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2999563	NM_000419.5(ITGA2B):c.575-10T>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2990338	NM_000419.5(ITGA2B):c.1879-31_1879-14dup	ITGA2B	Duplication (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2983979	NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2980806	NM_000419.5(ITGA2B):c.1793T>C (p.Leu598Pro)	ITGA2B (L598P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2980743	NM_000419.5(ITGA2B):c.3060+16C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2977008	NM_000419.5(ITGA2B):c.2291_2292delinsAA (p.Ser764Lys)	ITGA2B (S764K)	Indel (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2972721	NM_000419.5(ITGA2B):c.2841+13_2841+33del	ITGA2B	Deletion (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2969418	NM_000419.5(ITGA2B):c.2510A>G (p.Gln837Arg)	ITGA2B (Q837R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2966908	NM_000419.5(ITGA2B):c.188+18T>C	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 2965325	NM_000419.5(ITGA2B):c.310+17G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2964042	NM_000419.5(ITGA2B):c.2728-12G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2964011	NM_000419.5(ITGA2B):c.444A>C (p.Glu148Asp)	ITGA2B (E148D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	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 2963623	NM_000419.5(ITGA2B):c.2943+11G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
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 2959613	NM_000419.5(ITGA2B):c.1544+18A>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2955207	NM_000419.5(ITGA2B):c.1601-14G>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2918654	NM_000419.5(ITGA2B):c.1211-9T>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2917372	NM_000419.5(ITGA2B):c.637G>A (p.Val213Met)	ITGA2B (V213M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2917197	NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2916875	NM_000419.5(ITGA2B):c.685G>A (p.Ala229Thr)	ITGA2B (A229T)	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
Select item 2915170	NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)	ITGA2B (R799T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2914629	NM_000419.5(ITGA2B):c.1999G>A (p.Asp667Asn)	ITGA2B (D667N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2912063	NM_000419.5(ITGA2B):c.1600+11T>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GBenign
Select item 2911139	NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2910814	NM_000419.5(ITGA2B):c.505G>A (p.Gly169Ser)	ITGA2B (G169S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2908579	NM_000419.5(ITGA2B):c.1210G>T (p.Asp404Tyr)	ITGA2B (D404Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
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 2907136	NM_000419.5(ITGA2B):c.2592C>A (p.Asn864Lys)	ITGA2B (N864K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2906105	NM_000419.5(ITGA2B):c.1214T>G (p.Ile405Ser)	ITGA2B (I405S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2903191	NM_000419.5(ITGA2B):c.887G>A (p.Gly296Glu)	ITGA2B (G296E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2902573	NM_000419.5(ITGA2B):c.2201T>A (p.Met734Lys)	ITGA2B (M734K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2900606	NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2899649	NM_000419.5(ITGA2B):c.1211-10C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2899006	NM_000419.5(ITGA2B):c.819C>T (p.Gly273=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2898705	NM_000419.5(ITGA2B):c.30C>T (p.Ala10=)	ITGA2B	Single nucleotide variant (synonymous 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 2897666	NM_000419.5(ITGA2B):c.2727+14C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2895992	NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2895482	NM_000419.5(ITGA2B):c.1753-8del	ITGA2B	Deletion (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2895139	NM_000419.5(ITGA2B):c.655G>A (p.Gly219Ser)	ITGA2B (G219S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2893443	NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)	ITGA2B (R386*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic
Select item 2891915	NM_000419.5(ITGA2B):c.146A>T (p.Gln49Leu)	ITGA2B (Q49L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2891532	NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)	ITGA2B	Single nucleotide variant (synonymous 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 2890806	NM_000419.5(ITGA2B):c.2943+3G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2890514	NM_000419.5(ITGA2B):c.2053C>A (p.Pro685Thr)	ITGA2B (P685T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2890345	NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)	ITGA2B (L654F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2889983	NM_000419.5(ITGA2B):c.1440-20C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2888740	NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)	ITGA2B (G783R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
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 2888445	NM_000419.5(ITGA2B):c.1574C>T (p.Thr525Ile)	ITGA2B (T525I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2887879	NM_000419.5(ITGA2B):c.945+6G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2887278	NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)	ITGA2B (V779A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	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 2886378	NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2886352	NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)	ITGA2B (K726del)	Microsatellite (inframe_deletion)	Glanzmann thrombasthenia	GUncertain significance
Select item 2885885	NM_000419.5(ITGA2B):c.1756G>A (p.Glu586Lys)	ITGA2B (E586K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2885528	NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)	ITGA2B (Q165H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +1 more	GUncertain significance
Select item 2885504	NM_000419.5(ITGA2B):c.188+8G>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2885159	NM_000419.5(ITGA2B):c.2377G>A (p.Ala793Thr)	ITGA2B (A793T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2884835	NM_000419.5(ITGA2B):c.2311G>A (p.Val771Met)	ITGA2B (V771M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2884454	NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2883907	NM_000419.5(ITGA2B):c.1912G>A (p.Val638Ile)	ITGA2B (V638I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2879186	NM_000419.5(ITGA2B):c.2728-16C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2878939	NM_000419.5(ITGA2B):c.361C>T (p.Arg121Cys)	ITGA2B (R121C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2877968	NM_000419.5(ITGA2B):c.2045T>A (p.Val682Glu)	ITGA2B (V682E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2877956	NM_000419.5(ITGA2B):c.1545-17C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2868005	NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2863327	NM_000419.5(ITGA2B):c.946-12C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2858704	NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2858358	NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2858206	NM_000419.5(ITGA2B):c.1198G>A (p.Asp400Asn)	ITGA2B (D400N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2856754	NM_000419.5(ITGA2B):c.1232A>G (p.Tyr411Cys)	ITGA2B (Y411C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2850740	NM_000419.5(ITGA2B):c.1670C>G (p.Ser557Cys)	ITGA2B (S557C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2850715	NM_000419.5(ITGA2B):c.1815G>C (p.Pro605=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign
Select item 2849228	NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)	ITGA2B (V748M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 2843892	NM_000419.5(ITGA2B):c.2095-8T>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2836834	NM_000419.5(ITGA2B):c.2727+19C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 2836515	NM_000419.5(ITGA2B):c.998+19C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign

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