ITGA11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 2372404	NM_001004439.2(ITGA11):c.3476T>C (p.Leu1159Pro)	ITGA11 (L1159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111169	NM_001004439.2(ITGA11):c.3455G>A (p.Gly1152Asp)	ITGA11 (G1152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224996	NM_001004439.2(ITGA11):c.3443G>T (p.Ser1148Ile)	ITGA11 (S1148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388146	NM_001004439.2(ITGA11):c.3377G>A (p.Arg1126His)	ITGA11 (R1126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550112	NM_001004439.2(ITGA11):c.3320C>T (p.Ala1107Val)	ITGA11 (A1107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111168	NM_001004439.2(ITGA11):c.3319G>A (p.Ala1107Thr)	ITGA11 (A1107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599930	NM_001004439.2(ITGA11):c.3160C>T (p.Arg1054Cys)	ITGA11 (R1054C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111167	NM_001004439.2(ITGA11):c.3157C>T (p.Arg1053Cys)	ITGA11 (R1053C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111165	NM_001004439.2(ITGA11):c.3137C>A (p.Thr1046Asn)	ITGA11 (T1046N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111164	NM_001004439.2(ITGA11):c.3131G>A (p.Arg1044Gln)	ITGA11 (R1044Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111163	NM_001004439.2(ITGA11):c.3122C>G (p.Thr1041Ser)	ITGA11 (T1041S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515236	NM_001004439.2(ITGA11):c.3095C>T (p.Thr1032Met)	ITGA11 (T1032M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343916	NM_001004439.2(ITGA11):c.3046G>A (p.Gly1016Ser)	ITGA11 (G1016S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111162	NM_001004439.2(ITGA11):c.2995C>T (p.Pro999Ser)	ITGA11 (P999S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371838	NM_001004439.2(ITGA11):c.2963G>C (p.Cys988Ser)	ITGA11 (C988S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348669	NM_001004439.2(ITGA11):c.2959A>G (p.Ser987Gly)	ITGA11 (S987G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645486	NM_001004439.2(ITGA11):c.2949G>T (p.Gly983=)	ITGA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568887	NM_001004439.2(ITGA11):c.2924C>T (p.Ser975Leu)	ITGA11 (S975L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540574	NM_001004439.2(ITGA11):c.2905G>A (p.Glu969Lys)	ITGA11 (E969K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111161	NM_001004439.2(ITGA11):c.2879C>T (p.Thr960Ile)	ITGA11 (T960I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286685	NM_001004439.2(ITGA11):c.2798G>A (p.Ser933Asn)	ITGA11 (S933N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286683	NM_001004439.2(ITGA11):c.2782G>A (p.Ala928Thr)	ITGA11 (A928T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645487	NM_001004439.2(ITGA11):c.2753T>C (p.Ile918Thr)	ITGA11 (I918T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286696	NM_001004439.2(ITGA11):c.2704G>A (p.Ala902Thr)	ITGA11 (A902T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286694	NM_001004439.2(ITGA11):c.2648A>G (p.Asn883Ser)	ITGA11 (N883S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111160	NM_001004439.2(ITGA11):c.2632A>G (p.Ser878Gly)	ITGA11 (S878G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330953	NM_001004439.2(ITGA11):c.2608A>T (p.Ile870Phe)	ITGA11 (I870F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111159	NM_001004439.2(ITGA11):c.2582C>T (p.Ser861Leu)	ITGA11 (S861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111158	NM_001004439.2(ITGA11):c.2555A>G (p.Tyr852Cys)	ITGA11 (Y852C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294974	NM_001004439.2(ITGA11):c.2496G>C (p.Glu832Asp)	ITGA11 (E832D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225023	NM_001004439.2(ITGA11):c.2462C>T (p.Thr821Met)	ITGA11 (T821M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286686	NM_001004439.2(ITGA11):c.2423G>T (p.Arg808Met)	ITGA11 (R808M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111157	NM_001004439.2(ITGA11):c.2402C>T (p.Thr801Met)	ITGA11 (T801M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111156	NM_001004439.2(ITGA11):c.2402C>G (p.Thr801Arg)	ITGA11 (T801R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286693	NM_001004439.2(ITGA11):c.2371C>G (p.Leu791Val)	ITGA11 (L791V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556727	NM_001004439.2(ITGA11):c.2345A>T (p.Asn782Ile)	ITGA11 (N782I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246011	NM_001004439.2(ITGA11):c.2308A>G (p.Thr770Ala)	ITGA11 (T770A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111155	NM_001004439.2(ITGA11):c.2296G>A (p.Gly766Ser)	ITGA11 (G766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728258	NM_001004439.2(ITGA11):c.2295C>T (p.Asp765=)	ITGA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286697	NM_001004439.2(ITGA11):c.2269C>A (p.Pro757Thr)	ITGA11 (P757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513167	NM_001004439.2(ITGA11):c.2252A>G (p.Glu751Gly)	ITGA11 (E751G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340489	NM_001004439.2(ITGA11):c.2251G>A (p.Glu751Lys)	ITGA11 (E751K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236417	NM_001004439.2(ITGA11):c.2215A>C (p.Thr739Pro)	ITGA11 (T739P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229790	NM_001004439.2(ITGA11):c.2206G>A (p.Val736Ile)	ITGA11 (V736I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111154	NM_001004439.2(ITGA11):c.2095G>A (p.Glu699Lys)	ITGA11 (E699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521025	NM_001004439.2(ITGA11):c.2091G>A (p.Met697Ile)	ITGA11 (M697I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464306	NM_001004439.2(ITGA11):c.2090T>C (p.Met697Thr)	ITGA11 (M697T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597053	NM_001004439.2(ITGA11):c.2083G>A (p.Ala695Thr)	ITGA11 (A695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240059	NM_001004439.2(ITGA11):c.2027C>T (p.Thr676Met)	ITGA11 (T676M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232312	NM_001004439.2(ITGA11):c.2027C>A (p.Thr676Lys)	ITGA11 (T676K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284067	NM_001004439.2(ITGA11):c.1981C>A (p.Arg661Ser)	ITGA11 (R661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286695	NM_001004439.2(ITGA11):c.1864C>G (p.Leu622Val)	ITGA11 (L622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111153	NM_001004439.2(ITGA11):c.1858A>G (p.Ile620Val)	ITGA11 (I620V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111152	NM_001004439.2(ITGA11):c.1844A>G (p.Asn615Ser)	ITGA11 (N615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461454	NM_001004439.2(ITGA11):c.1832A>G (p.Gln611Arg)	ITGA11 (Q611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609751	NM_001004439.2(ITGA11):c.1798G>A (p.Gly600Ser)	ITGA11 (G600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336780	NM_001004439.2(ITGA11):c.1798G>T (p.Gly600Cys)	ITGA11 (G600C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111151	NM_001004439.2(ITGA11):c.1742G>A (p.Arg581Gln)	ITGA11 (R581Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370592	NM_001004439.2(ITGA11):c.1735G>A (p.Gly579Ser)	ITGA11 (G579S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314111	NM_001004439.2(ITGA11):c.1731C>A (p.Phe577Leu)	ITGA11 (F577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111149	NM_001004439.2(ITGA11):c.1684G>A (p.Val562Met)	ITGA11 (V562M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286691	NM_001004439.2(ITGA11):c.1649G>A (p.Arg550Gln)	ITGA11 (R550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536746	NM_001004439.2(ITGA11):c.1580A>G (p.Tyr527Cys)	ITGA11 (Y527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460400	NM_001004439.2(ITGA11):c.1535G>A (p.Arg512Gln)	ITGA11 (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111147	NM_001004439.2(ITGA11):c.1489G>A (p.Val497Ile)	ITGA11 (V497I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383096	NM_001004439.2(ITGA11):c.1480G>A (p.Val494Met)	ITGA11 (V494M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388093	NM_001004439.2(ITGA11):c.1474G>A (p.Asp492Asn)	ITGA11 (D492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400856	NM_001004439.2(ITGA11):c.1471G>A (p.Gly491Ser)	ITGA11 (G491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725622	NM_001004439.2(ITGA11):c.1388G>A (p.Arg463Gln)	ITGA11 (R463Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3286699	NM_001004439.2(ITGA11):c.1327G>A (p.Ala443Thr)	ITGA11 (A443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111146	NM_001004439.2(ITGA11):c.1315C>T (p.Arg439Trp)	ITGA11 (R439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457677	NM_001004439.2(ITGA11):c.1246G>A (p.Glu416Lys)	ITGA11 (E416K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111145	NM_001004439.2(ITGA11):c.1219C>T (p.Arg407Cys)	ITGA11 (R407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605689	NM_001004439.2(ITGA11):c.1207G>A (p.Val403Ile)	ITGA11 (V403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111144	NM_001004439.2(ITGA11):c.1201G>A (p.Gly401Arg)	ITGA11 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400564	NM_001004439.2(ITGA11):c.1193C>T (p.Thr398Met)	ITGA11 (T398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397565	NM_001004439.2(ITGA11):c.1177G>C (p.Ala393Pro)	ITGA11 (A393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709148	NM_001004439.2(ITGA11):c.1161C>G (p.Ala387=)	ITGA11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404585	NM_001004439.2(ITGA11):c.1157G>A (p.Gly386Asp)	ITGA11 (G386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111143	NM_001004439.2(ITGA11):c.1099T>G (p.Ser367Ala)	ITGA11 (S367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296996	NM_001004439.2(ITGA11):c.1081T>C (p.Ser361Pro)	ITGA11 (S361P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602021	NM_001004439.2(ITGA11):c.961G>A (p.Ala321Thr)	ITGA11 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111176	NM_001004439.2(ITGA11):c.958A>G (p.Ile320Val)	ITGA11 (I320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286687	NM_001004439.2(ITGA11):c.913C>T (p.Arg305Cys)	ITGA11 (R305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111175	NM_001004439.2(ITGA11):c.874G>A (p.Val292Ile)	ITGA11 (V292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111174	NM_001004439.2(ITGA11):c.862G>A (p.Glu288Lys)	ITGA11 (E288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738890	NM_001004439.2(ITGA11):c.861C>T (p.Ser287=)	ITGA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645488	NM_001004439.2(ITGA11):c.831C>T (p.Ser277=)	ITGA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286684	NM_001004439.2(ITGA11):c.830G>T (p.Ser277Ile)	ITGA11 (S277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111173	NM_001004439.2(ITGA11):c.826G>A (p.Asp276Asn)	ITGA11 (D276N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111172	NM_001004439.2(ITGA11):c.758C>A (p.Ala253Asp)	ITGA11 (A253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222045	NM_001004439.2(ITGA11):c.758C>T (p.Ala253Val)	ITGA11 (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286692	NM_001004439.2(ITGA11):c.754G>C (p.Glu252Gln)	ITGA11 (E252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258407	NM_001004439.2(ITGA11):c.730T>G (p.Phe244Val)	ITGA11 (F244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392350	NM_001004439.2(ITGA11):c.721C>T (p.Arg241Trp)	ITGA11 (R241W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357690	NM_001004439.2(ITGA11):c.664G>A (p.Val222Ile)	ITGA11 (V222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476146	NM_001004439.2(ITGA11):c.650A>G (p.Asn217Ser)	ITGA11 (N217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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