ITGAD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 3111315	NM_005353.3(ITGAD):c.77C>T (p.Thr26Met)	ITGAD (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325743	NM_005353.3(ITGAD):c.114C>A (p.Ser38Arg)	ITGAD (S38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459896	NM_005353.3(ITGAD):c.127G>A (p.Gly43Ser)	ITGAD (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613821	NM_005353.3(ITGAD):c.151G>A (p.Ala51Thr)	ITGAD (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554514	NM_005353.3(ITGAD):c.154C>A (p.Pro52Thr)	ITGAD (P52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568642	NM_005353.3(ITGAD):c.182C>T (p.Thr61Met)	ITGAD (T61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111301	NM_005353.3(ITGAD):c.188G>A (p.Arg63Gln)	ITGAD (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476015	NM_005353.3(ITGAD):c.305G>A (p.Arg102Gln)	ITGAD (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470844	NM_005353.3(ITGAD):c.363G>C (p.Lys121Asn)	ITGAD (K121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111312	NM_005353.3(ITGAD):c.370T>G (p.Cys124Gly)	ITGAD (C124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259365	NM_005353.3(ITGAD):c.386C>T (p.Ser129Leu)	ITGAD (S129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401010	NM_005353.3(ITGAD):c.418G>A (p.Ala140Thr)	ITGAD (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111313	NM_005353.3(ITGAD):c.424C>T (p.Pro142Ser)	ITGAD (P142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275835	NM_005353.3(ITGAD):c.449A>C (p.Asp150Ala)	ITGAD (D150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397555	NM_005353.3(ITGAD):c.529A>G (p.Met177Val)	ITGAD (M177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280932	NM_005353.3(ITGAD):c.644T>C (p.Val215Ala)	ITGAD (V215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111314	NM_005353.3(ITGAD):c.686C>T (p.Thr229Met)	ITGAD (T229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216245	NM_005353.3(ITGAD):c.737G>A (p.Arg246Gln)	ITGAD (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401559	NM_005353.3(ITGAD):c.761T>C (p.Ile254Thr)	ITGAD (I254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111316	NM_005353.3(ITGAD):c.913T>C (p.Ser305Pro)	ITGAD (S305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368569	NM_005353.3(ITGAD):c.923C>T (p.Pro308Leu)	ITGAD (P308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569630	NM_005353.3(ITGAD):c.934G>A (p.Val312Met)	ITGAD (V312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111317	NM_005353.3(ITGAD):c.992A>G (p.Lys331Arg)	ITGAD (K331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456909	NM_005353.3(ITGAD):c.1073C>A (p.Ala358Asp)	ITGAD (A358D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402792	NM_005353.3(ITGAD):c.1075C>T (p.Leu359Phe)	ITGAD (L359F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532549	NM_005353.3(ITGAD):c.1099G>A (p.Gly367Arg)	ITGAD (G367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222313	NM_005353.3(ITGAD):c.1119C>A (p.Ser373Arg)	ITGAD (S373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249227	NM_005353.3(ITGAD):c.1171A>C (p.Asn391His)	ITGAD (N391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393337	NM_005353.3(ITGAD):c.1189G>A (p.Val397Met)	ITGAD (V397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252125	NM_005353.3(ITGAD):c.1229T>C (p.Leu410Pro)	ITGAD (L410P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320000	NM_005353.3(ITGAD):c.1254C>G (p.Asn418Lys)	ITGAD (N418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213793	NM_005353.3(ITGAD):c.1267G>C (p.Ala423Pro)	ITGAD (A423P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387162	NM_005353.3(ITGAD):c.1273C>T (p.Arg425Cys)	ITGAD (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482510	NM_005353.3(ITGAD):c.1289G>T (p.Gly430Val)	ITGAD (G430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408456	NM_005353.3(ITGAD):c.1359C>G (p.Ile453Met)	ITGAD (I453M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463033	NM_005353.3(ITGAD):c.1417G>A (p.Asp473Asn)	ITGAD (D473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111294	NM_005353.3(ITGAD):c.1436C>A (p.Ala479Asp)	ITGAD (A479D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398862	NM_005353.3(ITGAD):c.1494G>T (p.Arg498Ser)	ITGAD (R498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111297	NM_005353.3(ITGAD):c.1528C>T (p.Arg510Cys)	ITGAD (R511C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111298	NM_005353.3(ITGAD):c.1534G>A (p.Glu512Lys)	ITGAD (E512K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111299	NM_005353.3(ITGAD):c.1619T>C (p.Ile540Thr)	ITGAD (I541T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469709	NM_005353.3(ITGAD):c.1628C>T (p.Pro543Leu)	ITGAD (P543L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490570	NM_005353.3(ITGAD):c.1646G>A (p.Arg549Gln)	ITGAD (R550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344961	NM_005353.3(ITGAD):c.1673C>T (p.Ala558Val)	ITGAD (A559V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344962	NM_005353.3(ITGAD):c.1676C>T (p.Ser559Leu)	ITGAD (S559L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344963	NM_005353.3(ITGAD):c.1679A>G (p.Glu560Gly)	ITGAD (E560G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344964	NM_005353.3(ITGAD):c.1681T>C (p.Ser561Pro)	ITGAD (S561P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344966	NM_005353.3(ITGAD):c.1684G>A (p.Gly562Ser)	ITGAD (G563S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527887	NM_005353.3(ITGAD):c.1813G>A (p.Ala605Thr)	ITGAD (A605T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111300	NM_005353.3(ITGAD):c.1816C>T (p.Arg606Trp)	ITGAD (R607W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210109	NM_005353.3(ITGAD):c.1951G>A (p.Ala651Thr)	ITGAD (A651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473070	NM_005353.3(ITGAD):c.1957G>A (p.Val653Ile)	ITGAD (V653I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512964	NM_005353.3(ITGAD):c.1979G>T (p.Ser660Ile)	ITGAD (S661I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111302	NM_005353.3(ITGAD):c.2033T>C (p.Leu678Pro)	ITGAD (L678P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400282	NM_005353.3(ITGAD):c.2239C>T (p.Arg747Cys)	ITGAD (R747C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469590	NM_005353.3(ITGAD):c.2254G>A (p.Val752Met)	ITGAD (V752M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609315	NM_005353.3(ITGAD):c.2275A>T (p.Thr759Ser)	ITGAD (T759S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226356	NM_005353.3(ITGAD):c.2375T>C (p.Val792Ala)	ITGAD (V792A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330954	NM_005353.3(ITGAD):c.2474C>G (p.Ser825Trp)	ITGAD (S826W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315952	NM_005353.3(ITGAD):c.2474C>T (p.Ser825Leu)	ITGAD (S826L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111303	NM_005353.3(ITGAD):c.2516G>T (p.Ser839Ile)	ITGAD (S839I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111304	NM_005353.3(ITGAD):c.2525G>A (p.Arg842His)	ITGAD (R842H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598605	NM_005353.3(ITGAD):c.2576G>A (p.Arg859His)	ITGAD (R859H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225689	NM_005353.3(ITGAD):c.2635T>C (p.Phe879Leu)	ITGAD (F879L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353314	NM_005353.3(ITGAD):c.2687G>T (p.Ser896Ile)	ITGAD (S897I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233594	NM_005353.3(ITGAD):c.2749G>T (p.Val917Leu)	ITGAD (V918L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111305	NM_005353.3(ITGAD):c.2753A>C (p.Lys918Thr)	ITGAD (K918T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327303	NM_005353.3(ITGAD):c.2770A>G (p.Met924Val)	ITGAD (M925V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111306	NM_005353.3(ITGAD):c.2791T>A (p.Ser931Thr)	ITGAD (S931T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313983	NM_005353.3(ITGAD):c.2792C>A (p.Ser931Tyr)	ITGAD (S931Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558202	NM_005353.3(ITGAD):c.2833A>G (p.Met945Val)	ITGAD (M946V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161631	NM_005353.3(ITGAD):c.2836A>C (p.Lys946Gln)	ITGAD (K946Q +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2317242	NM_005353.3(ITGAD):c.2845G>A (p.Glu949Lys)	ITGAD (E949K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111307	NM_005353.3(ITGAD):c.2852G>A (p.Arg951Gln)	ITGAD (R952Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111308	NM_005353.3(ITGAD):c.2858G>A (p.Arg953His)	ITGAD (R953H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646479	NM_005353.3(ITGAD):c.2925C>T (p.Asn975=)	ITGAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458195	NM_005353.3(ITGAD):c.2959C>T (p.Pro987Ser)	ITGAD (P987S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591149	NM_005353.3(ITGAD):c.2971C>T (p.Leu991Phe)	ITGAD (L991F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111309	NM_005353.3(ITGAD):c.3104A>G (p.Gln1035Arg)	ITGAD (Q1035R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299640	NM_005353.3(ITGAD):c.3155G>A (p.Arg1052His)	ITGAD (R1052H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298341	NM_005353.3(ITGAD):c.3217G>A (p.Val1073Met)	ITGAD (V1073M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560508	NM_005353.3(ITGAD):c.3260A>G (p.Gln1087Arg)	ITGAD (Q1087R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111310	NM_005353.3(ITGAD):c.3271G>A (p.Val1091Met)	ITGAD (V1091M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470674	NM_005353.3(ITGAD):c.3373C>G (p.Leu1125Val)	ITGAD (L1125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351189	NM_005353.3(ITGAD):c.3389G>A (p.Arg1130His)	ITGAD (R1131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602611	NM_005353.3(ITGAD):c.3434C>T (p.Thr1145Ile)	ITGAD (T1145I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111311	NM_005353.3(ITGAD):c.3458G>C (p.Cys1153Ser)	ITGAD (C1153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443161	GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3	FUS, ITGAD +5 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395524	GRCh37/hg19 16p11.2(chr16:31343812-31405543)x3	ITGAD, ITGAM +1 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic

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