"Ambry Genetics"[submitter] AND "ITGB4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241149	NM_000213.5(ITGB4):c.85C>T (p.Arg29Cys)	ITGB4 (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616610	NM_000213.5(ITGB4):c.97G>A (p.Ala33Thr)	ITGB4 (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540132	NM_000213.5(ITGB4):c.110G>T (p.Ser37Ile)	ITGB4 (S37I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349947	NM_000213.5(ITGB4):c.194C>T (p.Ala65Val)	ITGB4 (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146557	NM_000213.5(ITGB4):c.220C>T (p.Arg74Trp)	ITGB4 (R74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2168660	NM_000213.5(ITGB4):c.232G>A (p.Val78Met)	ITGB4 (V78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2352951	NM_000213.5(ITGB4):c.289C>T (p.Arg97Trp)	ITGB4 (R97W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508802	NM_000213.5(ITGB4):c.290G>A (p.Arg97Gln)	ITGB4 (R97Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888692	NM_000213.5(ITGB4):c.299A>G (p.Gln100Arg)	ITGB4 (Q100R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2411630	NM_000213.5(ITGB4):c.305C>T (p.Ser102Phe)	ITGB4 (S102F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373985	NM_000213.5(ITGB4):c.310C>G (p.Gln104Glu)	ITGB4 (Q104E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111458	NM_000213.5(ITGB4):c.320G>A (p.Arg107Gln)	ITGB4 (R107Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482830	NM_000213.5(ITGB4):c.576G>T (p.Glu192Asp)	ITGB4 (E192D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677859	NM_000213.5(ITGB4):c.650G>A (p.Arg217Gln)	ITGB4 (R217Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2349499	NM_000213.5(ITGB4):c.703G>A (p.Gly235Ser)	ITGB4 (G235S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2518925	NM_000213.5(ITGB4):c.790G>A (p.Glu264Lys)	ITGB4 (E264K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111469	NM_000213.5(ITGB4):c.820G>A (p.Ala274Thr)	ITGB4 (A274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111470	NM_000213.5(ITGB4):c.832G>T (p.Ala278Ser)	ITGB4 (A278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283803	NM_000213.5(ITGB4):c.845G>C (p.Ser282Thr)	ITGB4 (S282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343150	NM_000213.5(ITGB4):c.848G>A (p.Arg283His)	ITGB4 (R283H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213512	NM_000213.5(ITGB4):c.853G>A (p.Asp285Asn)	ITGB4 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286845	NM_000213.5(ITGB4):c.905A>G (p.Gln302Arg)	ITGB4 (Q302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329262	NM_000213.5(ITGB4):c.935G>A (p.Arg312His)	ITGB4 (R312H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3111471	NM_000213.5(ITGB4):c.938T>A (p.Leu313Gln)	ITGB4 (L313Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605092	NM_000213.5(ITGB4):c.995A>G (p.Tyr332Cys)	ITGB4 (Y332C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005858	NM_000213.5(ITGB4):c.1039G>A (p.Val347Met)	ITGB4 (V347M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2496459	NM_000213.5(ITGB4):c.1128C>G (p.Asp376Glu)	ITGB4 (D376E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 325134	NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)	ITGB4 (R394K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 325135	NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp)	ITGB4 (R401W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2393202	NM_000213.5(ITGB4):c.1202G>A (p.Arg401Gln)	ITGB4 (R401Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1416963	NM_000213.5(ITGB4):c.1237C>T (p.Arg413Trp)	ITGB4 (R413W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3286849	NM_000213.5(ITGB4):c.1343_1360dup (p.Asp453_Val454insAlaGlyIleIleCysAsp)	ITGB4	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 1522264	NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	ITGB4 (A448V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 2237408	NM_000213.5(ITGB4):c.1360G>A (p.Val454Met)	ITGB4 (V454M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179455	NM_000213.5(ITGB4):c.1374G>C (p.Glu458Asp)	ITGB4 (E458D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554074	NM_000213.5(ITGB4):c.1396G>A (p.Ala466Thr)	ITGB4 (A466T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182451	NM_000213.5(ITGB4):c.1399C>T (p.Arg467Cys)	ITGB4 (R467C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3111446	NM_000213.5(ITGB4):c.1400G>A (p.Arg467His)	ITGB4 (R467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1900017	NM_000213.5(ITGB4):c.1423G>A (p.Val475Met)	ITGB4 (V475M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3111447	NM_000213.5(ITGB4):c.1429G>A (p.Gly477Arg)	ITGB4 (G477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111448	NM_000213.5(ITGB4):c.1450G>A (p.Gly484Ser)	ITGB4 (G484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518414	NM_000213.5(ITGB4):c.1564C>A (p.His522Asn)	ITGB4 (H522N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512910	NM_000213.5(ITGB4):c.1588C>T (p.Arg530Cys)	ITGB4 (R530C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 546807	NM_000213.5(ITGB4):c.1642G>A (p.Gly548Arg)	ITGB4 (G548R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286854	NM_000213.5(ITGB4):c.1654A>T (p.Asn552Tyr)	ITGB4 (N552Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111449	NM_000213.5(ITGB4):c.1657+6C>T	ITGB4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 325147	NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)	ITGB4 (R556C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2485660	NM_000213.5(ITGB4):c.1684T>G (p.Cys562Gly)	ITGB4 (C562G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318112	NM_000213.5(ITGB4):c.1778G>T (p.Arg593Leu)	ITGB4 (R593L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516941	NM_000213.5(ITGB4):c.1789G>A (p.Glu597Lys)	ITGB4 (E597K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516942	NM_000213.5(ITGB4):c.1829C>T (p.Thr610Met)	ITGB4 (T610M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263682	NM_000213.5(ITGB4):c.1856C>T (p.Ser619Leu)	ITGB4 (S619L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432924	NM_000213.5(ITGB4):c.1910C>T (p.Ala637Val)	ITGB4 (A637V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253226	NM_000213.5(ITGB4):c.1966A>G (p.Lys656Glu)	ITGB4 (K656E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302881	NM_000213.5(ITGB4):c.1975G>A (p.Asp659Asn)	ITGB4 (D659N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378487	NM_000213.5(ITGB4):c.1982T>C (p.Leu661Pro)	ITGB4 (L661P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111450	NM_000213.5(ITGB4):c.1988G>A (p.Arg663Lys)	ITGB4 (R663K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2389048	NM_000213.5(ITGB4):c.1993G>A (p.Glu665Lys)	ITGB4 (E665K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286848	NM_000213.5(ITGB4):c.2042C>A (p.Thr681Asn)	ITGB4 (T681N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111451	NM_000213.5(ITGB4):c.2063G>A (p.Gly688Asp)	ITGB4 (G688D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174835	NM_000213.5(ITGB4):c.2068G>A (p.Gly690Ser)	ITGB4 (G690S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2480184	NM_000213.5(ITGB4):c.2071G>A (p.Ala691Thr)	ITGB4 (A691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111452	NM_000213.5(ITGB4):c.2285A>G (p.Tyr762Cys)	ITGB4 (Y762C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203987	NM_000213.5(ITGB4):c.2344G>A (p.Gly782Arg)	ITGB4 (G782R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224269	NM_000213.5(ITGB4):c.2365G>A (p.Val789Met)	ITGB4 (V789M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528131	NM_000213.5(ITGB4):c.2380G>A (p.Val794Ile)	ITGB4 (V794I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3111453	NM_000213.5(ITGB4):c.2398C>T (p.Arg800Trp)	ITGB4 (R800W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136004	NM_000213.5(ITGB4):c.2468G>T (p.Arg823Leu)	ITGB4 (R823L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2568554	NM_000213.5(ITGB4):c.2476C>T (p.Arg826Cys)	ITGB4 (R826C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111454	NM_000213.5(ITGB4):c.2495T>C (p.Leu832Pro)	ITGB4 (L832P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888847	NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)	ITGB4 (P835T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2321574	NM_000213.5(ITGB4):c.2510C>T (p.Thr837Ile)	ITGB4 (T837I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481038	NM_000213.5(ITGB4):c.2526G>C (p.Gln842His)	ITGB4 (Q842H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251636	NM_000213.5(ITGB4):c.2537A>T (p.Glu846Val)	ITGB4 (E846V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175032	NM_000213.5(ITGB4):c.2557G>A (p.Glu853Lys)	ITGB4 (E853K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878690	NM_000213.5(ITGB4):c.2591T>C (p.Leu864Pro)	ITGB4 (L864P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2541471	NM_000213.5(ITGB4):c.2626G>A (p.Gly876Arg)	ITGB4 (G876R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286847	NM_000213.5(ITGB4):c.2641C>T (p.His881Tyr)	ITGB4 (H881Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387599	NM_000213.5(ITGB4):c.2656A>G (p.Thr886Ala)	ITGB4 (T886A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621221	NM_000213.5(ITGB4):c.2680G>A (p.Ala894Thr)	ITGB4 (A894T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266623	NM_000213.5(ITGB4):c.2765C>T (p.Thr922Ile)	ITGB4 (T922I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192235	NM_000213.5(ITGB4):c.2788C>T (p.Arg930Trp)	ITGB4 (R930W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2561429	NM_000213.5(ITGB4):c.2866G>A (p.Asp956Asn)	ITGB4 (D956N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111455	NM_000213.5(ITGB4):c.2869G>A (p.Glu957Lys)	ITGB4 (E957K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517514	NM_000213.5(ITGB4):c.2893A>G (p.Ile965Val)	ITGB4 (I965V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560434	NM_000213.5(ITGB4):c.2905G>A (p.Ala969Thr)	ITGB4 (A969T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330955	NM_000213.5(ITGB4):c.2908G>A (p.Gly970Ser)	ITGB4 (G970S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365457	NM_000213.5(ITGB4):c.2996T>C (p.Phe999Ser)	ITGB4 (F999S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1985738	NM_000213.5(ITGB4):c.3017A>T (p.Gln1006Leu)	ITGB4 (Q1006L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3111456	NM_000213.5(ITGB4):c.3025C>T (p.Arg1009Cys)	ITGB4 (R1009C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473389	NM_000213.5(ITGB4):c.3026G>A (p.Arg1009His)	ITGB4 (R1009H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403246	NM_000213.5(ITGB4):c.3044G>A (p.Arg1015His)	ITGB4 (R1015H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111457	NM_000213.5(ITGB4):c.3118A>C (p.Ile1040Leu)	ITGB4 (I1040L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461340	NM_000213.5(ITGB4):c.3124G>A (p.Val1042Met)	ITGB4 (V1042M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256877	NM_000213.5(ITGB4):c.3157G>A (p.Ala1053Thr)	ITGB4 (A1053T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3286850	NM_000213.5(ITGB4):c.3214C>T (p.Arg1072Trp)	ITGB4 (R1072W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286843	NM_000213.5(ITGB4):c.3220C>T (p.Arg1074Cys)	ITGB4 (R1074C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1348122	NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	ITGB4 (R1074H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3111459	NM_000213.5(ITGB4):c.3230G>A (p.Arg1077His)	ITGB4 (R1077H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325176	NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu)	ITGB4 (R1077L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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