"Ambry Genetics"[submitter] AND "ITGA8"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2387036	NM_003638.3(ITGA8):c.3171T>A (p.Asn1057Lys)	ITGA8 (N1042K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065706	NM_003638.3(ITGA8):c.3079G>A (p.Ala1027Thr)	ITGA8 (A1027T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2517578	NM_003638.3(ITGA8):c.3013A>G (p.Asn1005Asp)	ITGA8 (N1005D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203797	NM_003638.3(ITGA8):c.3011C>T (p.Pro1004Leu)	ITGA8 (P989L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111272	NM_003638.3(ITGA8):c.2975G>A (p.Ser992Asn)	ITGA8 (S977N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111271	NM_003638.3(ITGA8):c.2926G>A (p.Val976Ile)	ITGA8 (V961I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053282	NM_003638.3(ITGA8):c.2921T>C (p.Phe974Ser)	ITGA8 (F974S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286744	NM_003638.3(ITGA8):c.2849G>C (p.Arg950Thr)	ITGA8 (R950T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222883	NM_003638.3(ITGA8):c.2813G>A (p.Arg938Gln)	ITGA8 (R938Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284652	NM_003638.3(ITGA8):c.2793A>C (p.Gln931His)	ITGA8 (Q916H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286743	NM_003638.3(ITGA8):c.2774C>A (p.Thr925Lys)	ITGA8 (T910K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383834	NM_003638.3(ITGA8):c.2771G>C (p.Cys924Ser)	ITGA8 (C924S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207669	NM_003638.3(ITGA8):c.2723T>C (p.Val908Ala)	ITGA8 (V893A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292072	NM_003638.3(ITGA8):c.2699C>G (p.Pro900Arg)	ITGA8 (P885R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513531	NM_003638.3(ITGA8):c.2674G>A (p.Ala892Thr)	ITGA8 (A877T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247354	NM_003638.3(ITGA8):c.2545C>G (p.Arg849Gly)	ITGA8 (R834G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154191	NM_003638.3(ITGA8):c.2542G>T (p.Ala848Ser)	ITGA8 (A848S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2046536	NM_003638.3(ITGA8):c.2524G>A (p.Val842Met)	ITGA8 (V842M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071982	NM_003638.3(ITGA8):c.2445G>T (p.Glu815Asp)	ITGA8 (E815D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489137	NM_003638.3(ITGA8):c.2444A>G (p.Glu815Gly)	ITGA8 (E815G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402480	NM_003638.3(ITGA8):c.2443G>A (p.Glu815Lys)	ITGA8 (E815K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111270	NM_003638.3(ITGA8):c.2442G>C (p.Glu814Asp)	ITGA8 (E799D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286746	NM_003638.3(ITGA8):c.2387C>G (p.Pro796Arg)	ITGA8 (P796R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509372	NM_003638.3(ITGA8):c.2387C>T (p.Pro796Leu)	ITGA8 (P796L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484459	NM_003638.3(ITGA8):c.2383C>T (p.Pro795Ser)	ITGA8 (P795S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111269	NM_003638.3(ITGA8):c.2362G>A (p.Glu788Lys)	ITGA8 (E773K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720432	NM_003638.3(ITGA8):c.2321T>A (p.Phe774Tyr)	ITGA8 (F759Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2466356	NM_003638.3(ITGA8):c.2275G>A (p.Asp759Asn)	ITGA8 (D744N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257850	NM_003638.3(ITGA8):c.2224C>T (p.Leu742Phe)	ITGA8 (L742F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111268	NM_003638.3(ITGA8):c.2194A>G (p.Met732Val)	ITGA8 (M717V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111267	NM_003638.3(ITGA8):c.2104G>A (p.Glu702Lys)	ITGA8 (E702K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532785	NM_003638.3(ITGA8):c.2054A>C (p.Glu685Ala)	ITGA8 (E670A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412077	NM_003638.3(ITGA8):c.1969C>T (p.Pro657Ser)	ITGA8 (P657S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176598	NM_003638.3(ITGA8):c.1911T>G (p.Ile637Met)	ITGA8 (I637M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286745	NM_003638.3(ITGA8):c.1891G>C (p.Val631Leu)	ITGA8 (V631L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312163	NM_003638.3(ITGA8):c.1811T>C (p.Leu604Ser)	ITGA8 (L589S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605914	NM_003638.3(ITGA8):c.1788A>T (p.Lys596Asn)	ITGA8 (K581N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205721	NM_003638.3(ITGA8):c.1781G>A (p.Arg594Gln)	ITGA8 (R579Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414359	NM_003638.3(ITGA8):c.1763G>A (p.Arg588Gln)	ITGA8 (R573Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2550492	NM_003638.3(ITGA8):c.1706C>T (p.Pro569Leu)	ITGA8 (P554L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286749	NM_003638.3(ITGA8):c.1696C>A (p.Arg566Ser)	ITGA8 (R566S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111265	NM_003638.3(ITGA8):c.1624G>T (p.Val542Leu)	ITGA8 (V527L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111264	NM_003638.3(ITGA8):c.1571G>C (p.Cys524Ser)	ITGA8 (C524S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1901893	NM_003638.3(ITGA8):c.1567G>C (p.Val523Leu)	ITGA8 (V523L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2556811	NM_003638.3(ITGA8):c.1559C>A (p.Ser520Tyr)	ITGA8 (S505Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111263	NM_003638.3(ITGA8):c.1525G>T (p.Val509Phe)	ITGA8 (V509F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471309	NM_003638.3(ITGA8):c.1524G>T (p.Gln508His)	ITGA8 (Q493H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233861	NM_003638.3(ITGA8):c.1501A>C (p.Asn501His)	ITGA8 (N486H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276256	NM_003638.3(ITGA8):c.1472C>T (p.Ala491Val)	ITGA8 (A476V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474319	NM_003638.3(ITGA8):c.1438G>A (p.Val480Ile)	ITGA8 (V465I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487742	NM_003638.3(ITGA8):c.1435G>T (p.Ala479Ser)	ITGA8 (A464S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551666	NM_003638.3(ITGA8):c.1424C>A (p.Thr475Lys)	ITGA8 (T475K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402312	NM_003638.3(ITGA8):c.1409T>C (p.Val470Ala)	ITGA8 (V455A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286741	NM_003638.3(ITGA8):c.1393T>C (p.Tyr465His)	ITGA8 (Y450H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400336	NM_003638.3(ITGA8):c.1336G>A (p.Val446Ile)	ITGA8 (V446I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3286750	NM_003638.3(ITGA8):c.1279G>A (p.Asp427Asn)	ITGA8 (D412N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364959	NM_003638.3(ITGA8):c.1175A>G (p.His392Arg)	ITGA8 (H377R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432920	NM_003638.3(ITGA8):c.1159G>A (p.Gly387Ser)	ITGA8 (G372S +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GUncertain significance
Select item 2518590	NM_003638.3(ITGA8):c.1125G>T (p.Gln375His)	ITGA8 (Q375H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550637	NM_003638.3(ITGA8):c.1114A>G (p.Arg372Gly)	ITGA8 (R372G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620230	NM_003638.3(ITGA8):c.1082A>C (p.Tyr361Ser)	ITGA8 (Y346S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286742	NM_003638.3(ITGA8):c.979G>A (p.Val327Ile)	ITGA8 (V312I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069252	NM_003638.3(ITGA8):c.911C>T (p.Thr304Met)	ITGA8 (T289M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910536	NM_003638.3(ITGA8):c.892G>A (p.Val298Ile)	ITGA8 (V298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2344925	NM_003638.3(ITGA8):c.851T>C (p.Leu284Ser)	ITGA8 (L269S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611107	NM_003638.3(ITGA8):c.742A>C (p.Lys248Gln)	ITGA8 (K248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111274	NM_003638.3(ITGA8):c.656C>T (p.Pro219Leu)	ITGA8 (P219L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238563	NM_003638.3(ITGA8):c.635G>A (p.Gly212Glu)	ITGA8 (G212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218813	NM_003638.3(ITGA8):c.530A>C (p.Asn177Thr)	ITGA8 (N177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921769	NM_003638.3(ITGA8):c.482C>T (p.Pro161Leu)	ITGA8 (P161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2338742	NM_003638.3(ITGA8):c.481C>T (p.Pro161Ser)	ITGA8 (P161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286142	NM_003638.3(ITGA8):c.418G>A (p.Val140Met)	ITGA8 (V140M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219509	NM_003638.3(ITGA8):c.371C>T (p.Thr124Ile)	ITGA8 (T124I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258002	NM_003638.3(ITGA8):c.311C>T (p.Ala104Val)	ITGA8 (A104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344917	NM_003638.3(ITGA8):c.281A>G (p.Tyr94Cys)	ITGA8 (Y94C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290165	NM_003638.3(ITGA8):c.160G>T (p.Gly54Cys)	ITGA8 (G54C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268014	NM_003638.3(ITGA8):c.149G>A (p.Ser50Asn)	ITGA8 (S50N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286747	NM_003638.3(ITGA8):c.62G>T (p.Cys21Phe)	ITGA8 (C21F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607296	NM_003638.3(ITGA8):c.53C>A (p.Ala18Glu)	ITGA8 (A18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254759	NM_003638.3(ITGA8):c.53C>G (p.Ala18Gly)	ITGA8 (A18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302145	NM_003638.3(ITGA8):c.41C>T (p.Ala14Val)	ITGA8 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

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Items: 81