C0040015[trait identifier] AND "ClinGen Platelet Disorders Variant Cur - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1879037	NM_000419.5(ITGA2B):c.3061-1G>A	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
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 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 996167	NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)	ITGA2B (G1007fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
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 627292	NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)	ITGA2B (W998fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
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 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 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 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 627052	NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)	ITGA2B (F961fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
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 953021	NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs)	ITGA2B (D951fs)	Indel (frameshift variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
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 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 1691475	NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter)	ITGA2B (Q924*)	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 953022	NM_000419.5(ITGA2B):c.2728-19T>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1879058	NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)	ITGA2B (S901*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1691473	NM_000419.5(ITGA2B):c.2673_2674dup (p.Ile892fs)	ITGA2B (I892fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 953054	NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)	ITGA2B (Q891*)	Single nucleotide variant (nonsense)	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 2891	NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser)	ITGA2B (I874S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 323544	NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met)	ITGA2B (L872M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 996158	NM_000419.5(ITGA2B):c.2613del (p.Leu872fs)	ITGA2B (L872fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1210193	NM_000419.5(ITGA2B):c.2602-2A>G	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 996161	NM_000419.5(ITGA2B):c.2602-3C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2893	NM_000419.5(ITGA2B):c.2602-3C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1691486	NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter)	ITGA2B (Q860*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1210174	NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe)	ITGA2B (C857F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627288	NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg)	ITGA2B (C857R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 888824	NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His)	ITGA2B (Q852H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1879052	NM_000419.5(ITGA2B):c.2555del (p.Gln852fs)	ITGA2B (Q852fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1879012	NM_000419.5(ITGA2B):c.2540T>C (p.Leu847Pro)	ITGA2B (L847P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 323545	NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His)	ITGA2B (Q837H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 888825	NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu)	ITGA2B (P835L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1879014	NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg)	ITGA2B (L830R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 996192	NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs)	ITGA2B (V825fs)	Indel (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2506404	NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs)	ITGA2B (G827fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 888826	NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser)	ITGA2B (T824S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 996181	NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu)	ITGA2B (G823E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1210207	NM_000419.5(ITGA2B):c.2459del (p.Asn820fs)	ITGA2B (N820fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2506406	NM_000419.5(ITGA2B):c.2449-1G>C	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 888827	NM_000419.5(ITGA2B):c.2449-11C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1330319	NM_000419.5(ITGA2B):c.2444_2445del (p.Thr814_Tyr815insTer)	ITGA2B	Deletion (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 977129	NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)	ITGA2B (Y815C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1691458	NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn)	ITGA2B (H813N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1330347	NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter)	ITGA2B (W807*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2498359	NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs)	ITGA2B (D805fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1879023	NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)	ITGA2B (G797fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1879050	NM_000419.5(ITGA2B):c.2374del (p.Val792fs)	ITGA2B (V792fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 323546	NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp)	ITGA2B (A788D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1210179	NM_000419.5(ITGA2B):c.2348+5G>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 626927	NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	ITGA2B (R782*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1691468	NM_000419.5(ITGA2B):c.2338del (p.Glu780fs)	ITGA2B (E780fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
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 1691462	NM_000419.5(ITGA2B):c.2326_2331dup (p.Glu776_Ala777dup)	ITGA2B	Duplication (inframe_insertion)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 996187	NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp)	ITGA2B (A777D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2498355	NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)	ITGA2B (P772R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 953038	NM_000419.5(ITGA2B):c.2267+1G>T	ITGA2B	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2498357	NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)	ITGA2B (R755Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1691480	NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro)	ITGA2B (R755P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1879049	NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)	ITGA2B (L752R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1879048	NM_000419.5(ITGA2B):c.2254C>G (p.Leu752Val)	ITGA2B (L752V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 996211	NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter)	ITGA2B (E746*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 256039	NM_000419.5(ITGA2B):c.2188-7C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1330343	NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile)	ITGA2B (M724I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 996189	NM_000419.5(ITGA2B):c.2159T>C (p.Leu720Pro)	ITGA2B (L720P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 953023	NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs)	ITGA2B (C718fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
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 627273	NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)	ITGA2B (L717fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 323547	NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign 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 1691455	NM_000419.5(ITGA2B):c.2095-19T>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database

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