ClinVar for Gene (Select 8516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382277	NM_003638.3(ITGA8):c.158del (p.Lys53fs)	ITGA8 (K53fs)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 3372139	NM_003638.3(ITGA8):c.360dup (p.Val121fs)	ITGA8 (V121fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3356710	NM_003638.3(ITGA8):c.1780C>T (p.Arg594Ter)	ITGA8 (R579* +1 more)	Single nucleotide variant (nonsense)	ITGA8-related disorder	GPathogenic
Select item 3353608	NM_003638.3(ITGA8):c.739A>G (p.Arg247Gly)	ITGA8 (R247G)	Single nucleotide variant (missense variant)	ITGA8-related disorder	GUncertain significance
Select item 3347096	NM_003638.3(ITGA8):c.168C>A (p.Tyr56Ter)	ITGA8 (Y56*)	Single nucleotide variant (nonsense)	ITGA8-related disorder	GUncertain significance
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 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 3286747	NM_003638.3(ITGA8):c.62G>T (p.Cys21Phe)	ITGA8 (C21F)	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 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 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 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 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 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 3239179	NM_003638.3(ITGA8):c.2745A>G (p.Arg915=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 3065947	NM_003638.3(ITGA8):c.1970+1G>A	ITGA8	Single nucleotide variant (splice donor variant)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 3063176	GRCh37/hg19 10p13(chr10:15634150-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063173	GRCh37/hg19 10p13(chr10:15595630-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3050457	NM_003638.3(ITGA8):c.21C>G (p.Arg7=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3050019	NM_003638.3(ITGA8):c.2274C>T (p.Phe758=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3045881	NM_003638.3(ITGA8):c.828T>C (p.Phe276=)	ITGA8	Single nucleotide variant (synonymous variant +1 more)	ITGA8-related disorder	GLikely benign
Select item 3042645	NM_003638.3(ITGA8):c.1728A>G (p.Lys576=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3039367	NM_003638.3(ITGA8):c.420G>C (p.Val140=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3034217	NM_003638.3(ITGA8):c.171C>T (p.Phe57=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3031827	NM_003638.3(ITGA8):c.2673C>T (p.Ser891=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3030866	NM_003638.3(ITGA8):c.1611C>G (p.Val537=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3029534	NM_003638.3(ITGA8):c.2638-6T>G	ITGA8	Single nucleotide variant (intron variant)	ITGA8-related disorder	GLikely benign
Select item 3029022	NM_003638.3(ITGA8):c.2430G>A (p.Glu810=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3023295	NM_003638.3(ITGA8):c.209+16C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013674	NM_003638.3(ITGA8):c.1548T>C (p.Ala516=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984378	NM_003638.3(ITGA8):c.209+18G>A	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976040	NM_003638.3(ITGA8):c.1554-12T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971811	NM_003638.3(ITGA8):c.1903-16C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969961	NM_003638.3(ITGA8):c.2709C>A (p.Val903=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968279	NM_003638.3(ITGA8):c.2291+20A>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959998	NM_003638.3(ITGA8):c.1903-13T>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2955817	NM_003638.3(ITGA8):c.1553+12C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912463	NM_003638.3(ITGA8):c.1944T>A (p.Val648=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2908343	NM_003638.3(ITGA8):c.2734G>A (p.Glu912Lys)	ITGA8 (E897K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906333	NM_003638.3(ITGA8):c.2880+10A>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894213	NM_003638.3(ITGA8):c.1991T>C (p.Ile664Thr)	ITGA8 (I649T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892898	NM_003638.3(ITGA8):c.981A>G (p.Val327=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891171	NM_003638.3(ITGA8):c.1446-5C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888863	NM_003638.3(ITGA8):c.569-7G>A	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885342	NM_003638.3(ITGA8):c.405G>C (p.Trp135Cys)	ITGA8 (W135C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880845	NM_003638.3(ITGA8):c.2118+9T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871938	NM_003638.3(ITGA8):c.2748G>A (p.Gln916=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861335	NM_003638.3(ITGA8):c.2796C>T (p.Ile932=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857291	NM_003638.3(ITGA8):c.3085T>C (p.Leu1029=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854819	NM_003638.3(ITGA8):c.2574T>G (p.His858Gln)	ITGA8 (H843Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775609	NM_003638.3(ITGA8):c.6G>T (p.Ser2=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765244	NM_003638.3(ITGA8):c.1146G>C (p.Thr382=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758542	NM_003638.3(ITGA8):c.834G>T (p.Gly278=)	ITGA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2739289	NM_003638.3(ITGA8):c.312G>A (p.Ala104=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2723871	NM_003638.3(ITGA8):c.1176C>T (p.His392=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2721892	NM_003638.3(ITGA8):c.2841G>T (p.Leu947=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721693	NM_003638.3(ITGA8):c.972C>T (p.Thr324=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2711353	NM_003638.3(ITGA8):c.1746T>C (p.Asp582=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640325	NM_003638.3(ITGA8):c.345C>T (p.Asn115=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640324	NM_003638.3(ITGA8):c.1002-7C>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636505	NM_003638.3(ITGA8):c.1492A>C (p.Met498Leu)	ITGA8 (M483L +1 more)	Single nucleotide variant (missense variant)	ITGA8-related disorder	GUncertain significance
Select item 2627439	NM_003638.3(ITGA8):c.1764+1G>A	ITGA8	Single nucleotide variant (splice donor variant)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 2627438	NM_003638.3(ITGA8):c.1961C>T (p.Ser654Leu)	ITGA8 (S639L +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	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 2611107	NM_003638.3(ITGA8):c.742A>C (p.Lys248Gln)	ITGA8 (K248Q)	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 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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 2497952	NM_003638.3(ITGA8):c.707T>A (p.Ile236Asn)	ITGA8 (I236N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497896	NM_003638.3(ITGA8):c.2317A>C (p.Asn773His)	ITGA8 (N758H +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 2432922	NM_003638.3(ITGA8):c.2075T>A (p.Ile692Lys)	ITGA8 (I677K +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	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 2424712	NC_000010.10:g.(?_15686009)_(15686240_?)del	ITGA8	Deletion	not provided	GPathogenic
Select item 2420776	NM_003638.3(ITGA8):c.647T>C (p.Val216Ala)	ITGA8 (V216A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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