ClinVar for Gene (Select 102724508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356576	NM_000212.3(ITGB3):c.2357G>A (p.Arg786Gln)	EFCAB13-DT, ITGB3 (R786Q)	Single nucleotide variant (missense variant)	ITGB3-related disorder	GUncertain significance
Select item 3346637	NM_000212.3(ITGB3):c.2231T>G (p.Leu744Arg)	EFCAB13-DT, ITGB3 (L744R)	Single nucleotide variant (missense variant)	ITGB3-related disorder	GUncertain significance
Select item 3242398	NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)	EFCAB13-DT, ITGB3 (W741*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 3111439	NM_000212.3(ITGB3):c.2144A>C (p.Lys715Thr)	EFCAB13-DT, ITGB3 (K715T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020851	NC_000017.11:g.47307469AG[1]	EFCAB13-DT, ITGB3	Microsatellite	not provided	GPathogenic
Select item 3017032	NM_000212.3(ITGB3):c.2135-10_2135-8del	EFCAB13-DT, ITGB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2982088	NM_000212.3(ITGB3):c.2211C>G (p.Ala737=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958426	NM_000212.3(ITGB3):c.2301+20G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916772	NM_000212.3(ITGB3):c.2280C>T (p.Arg760=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913447	NM_000212.3(ITGB3):c.2244C>T (p.His748=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910744	NM_000212.3(ITGB3):c.2301+19C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905568	NM_000212.3(ITGB3):c.2172C>T (p.Leu724=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901925	NM_000212.3(ITGB3):c.2203C>A (p.Leu735Ile)	EFCAB13-DT, ITGB3 (L735I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892651	NM_000212.3(ITGB3):c.2163G>T (p.Val721=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891231	NM_000212.3(ITGB3):c.2313A>T (p.Pro771=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885276	NM_000212.3(ITGB3):c.2352G>A (p.Thr784=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882021	NM_000212.3(ITGB3):c.2226A>G (p.Lys742=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859270	NM_000212.3(ITGB3):c.2172C>G (p.Leu724=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858477	NM_000212.3(ITGB3):c.2325G>A (p.Glu775=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857524	NM_000212.3(ITGB3):c.2274A>G (p.Glu758=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853471	NM_000212.3(ITGB3):c.2301+11G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847937	NM_000212.3(ITGB3):c.2334T>C (p.Ser778=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791018	NM_000212.3(ITGB3):c.2151T>C (p.Pro717=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744341	NM_000212.3(ITGB3):c.2301+12G>T	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735007	NM_000212.3(ITGB3):c.2319T>C (p.Tyr773=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725990	NM_000212.3(ITGB3):c.2301+10G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722032	NM_000212.3(ITGB3):c.2184G>A (p.Gly728=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718700	NM_000212.3(ITGB3):c.2243A>G (p.His748Arg)	EFCAB13-DT, ITGB3 (H748R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718361	NM_000212.3(ITGB3):c.2163G>A (p.Val721=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717047	NM_000212.3(ITGB3):c.2301+7G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716061	NM_000212.3(ITGB3):c.2259C>T (p.Phe753=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711612	NM_000212.3(ITGB3):c.2322A>G (p.Lys774=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707872	NM_000212.3(ITGB3):c.2337C>A (p.Thr779=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704649	NM_000212.3(ITGB3):c.2135-12T>G	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694551	NM_000212.3(ITGB3):c.2302-8del	EFCAB13-DT, ITGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2630707	NM_000212.3(ITGB3):c.2193_2195dup (p.Leu732_Ile733insLeu)	EFCAB13-DT, ITGB3	Duplication (inframe_insertion +1 more)	ITGB3-related disorder	GUncertain significance
Select item 2629410	NM_000212.3(ITGB3):c.2245G>A (p.Asp749Asn)	EFCAB13-DT, ITGB3 (D749N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582206	NM_000212.3(ITGB3):c.2301+5G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2581085	NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle)	EFCAB13-DT, ITGB3	Indel (inframe_indel)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 2519700	NM_000212.3(ITGB3):c.2260G>A (p.Ala754Thr)	EFCAB13-DT, ITGB3 (A754T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506414	NM_000212.3(ITGB3):c.2301+1G>C	EFCAB13-DT, ITGB3	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 2408588	NM_000212.3(ITGB3):c.2279G>A (p.Arg760His)	EFCAB13-DT, ITGB3 (R760H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2164403	NM_000212.3(ITGB3):c.2232C>T (p.Leu744=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092257	NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)	EFCAB13-DT, ITGB3 (R750Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 2069010	NM_000212.3(ITGB3):c.2335A>G (p.Thr779Ala)	EFCAB13-DT, ITGB3 (T779A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931626	NM_000212.3(ITGB3):c.2340C>A (p.Phe780Leu)	EFCAB13-DT, ITGB3 (F780L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879066	NC_000017.11:g.47296304_47307500del	EFCAB13-DT, ITGB3	Deletion	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1809815	NM_000212.3(ITGB3):c.2360G>A (p.Gly787Asp)	EFCAB13-DT, ITGB3 (G787D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697255	NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys)	EFCAB13-DT, ITGB3 (R760C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1697254	NM_000212.3(ITGB3):c.2243A>C (p.His748Pro)	EFCAB13-DT, ITGB3 (H748P)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1697253	NM_000212.3(ITGB3):c.2236A>C (p.Thr746Pro)	EFCAB13-DT, ITGB3 (T746P)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1695388	NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser)	EFCAB13-DT, ITGB3 (P771S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 1693574	NM_000212.3(ITGB3):c.2209G>A (p.Ala737Thr)	EFCAB13-DT, ITGB3 (A737T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691474	NM_000212.3(ITGB3):c.2315T>C (p.Leu772Pro)	EFCAB13-DT, ITGB3 (L772P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 1691464	NM_000212.3(ITGB3):c.2217del (p.Ile740fs)	EFCAB13-DT, ITGB3 (I740fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 1684356	NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs)	EFCAB13-DT, ITGB3 (I740fs)	Insertion (frameshift variant)	Glanzmann thrombasthenia 1	GUncertain significance
Select item 1419678	NM_000212.3(ITGB3):c.2302-9C>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336728	NM_000212.3(ITGB3):c.2225A>C (p.Lys742Thr)	EFCAB13-DT, ITGB3 (K742T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330333	NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val)	EFCAB13-DT, ITGB3 (G716V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 1304752	NM_000212.3(ITGB3):c.2234T>A (p.Ile745Asn)	EFCAB13-DT, ITGB3 (I745N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303454	NM_000212.3(ITGB3):c.2345A>G (p.Asn782Ser)	EFCAB13-DT, ITGB3 (N782S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280638	NM_000212.3(ITGB3):c.2302-113A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221890	NM_000212.3(ITGB3):c.2302-230A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210204	NM_000212.3(ITGB3):c.2302-1G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 996183	NM_000212.3(ITGB3):c.2356C>T (p.Arg786Trp)	EFCAB13-DT, ITGB3 (R786W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 891996	NM_000212.3(ITGB3):c.*1292G>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 891995	NM_000212.3(ITGB3):c.*1041T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 891994	NM_000212.3(ITGB3):c.*739C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890801	NM_000212.3(ITGB3):c.*2404T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890800	NM_000212.3(ITGB3):c.*2263T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890799	NM_000212.3(ITGB3):c.*2117G>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GLikely benign
Select item 890233	NM_000212.3(ITGB3):c.*2081T>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890232	NM_000212.3(ITGB3):c.*1959C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890182	NM_000212.3(ITGB3):c.*185T>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890181	NM_000212.3(ITGB3):c.*90G>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890180	NM_000212.3(ITGB3):c.*89G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 890179	NM_000212.3(ITGB3):c.2331G>A (p.Thr777=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benignFDA Recognized database
Select item 889583	NM_000212.3(ITGB3):c.*1585A>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 889582	NM_000212.3(ITGB3):c.*1505G>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 889581	NM_000212.3(ITGB3):c.*1349G>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 812912	NM_000212.3(ITGB3):c.2015-644_2134+2135del	EFCAB13-DT, ITGB3	Deletion (splice acceptor variant +1 more)	Thrombocytopenia +1 more	GLikely pathogenic
Select item 700821	NM_000212.3(ITGB3):c.2175A>G (p.Ser725=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 696104	NM_000212.3(ITGB3):c.2196C>T (p.Leu732=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benignFDA Recognized database
Select item 627279	NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del)	EFCAB13-DT, ITGB3 (L744del)	Microsatellite (inframe_deletion)	Thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 627278	NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu)	EFCAB13-DT, ITGB3 (K742E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 444408	NM_000212.3(ITGB3):c.2221T>C (p.Trp741Arg)	EFCAB13-DT, ITGB3 (W741R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323906	NM_000212.3(ITGB3):c.*2455A>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GBenign
Select item 323905	NM_000212.3(ITGB3):c.*2327G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GBenign
Select item 323904	NM_000212.3(ITGB3):c.*2030C>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323903	NM_000212.3(ITGB3):c.*1985T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GBenign
Select item 323902	NM_000212.3(ITGB3):c.*1960G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323901	NM_000212.3(ITGB3):c.*1932C>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323900	NM_000212.3(ITGB3):c.*1817T>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323899	NM_000212.3(ITGB3):c.*1804A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323898	NM_000212.3(ITGB3):c.*1714T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323897	NM_000212.3(ITGB3):c.*1542C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GLikely benign
Select item 323896	NM_000212.3(ITGB3):c.*1527A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323895	NM_000212.3(ITGB3):c.*1479T>C	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GBenign
Select item 323894	NM_000212.3(ITGB3):c.*1331A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 323893	NM_000212.3(ITGB3):c.*1226ATTTT[2]	EFCAB13-DT, ITGB3	Microsatellite (3 prime UTR variant)	Glanzmann thrombasthenia	GUncertain significance

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