ITGA9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 153353	GRCh38/hg38 3p22.2(chr3:37309935-37523143)x1	APRG1, GOLGA4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	ACAA1, ACVR2B +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2322148	NM_002207.3(ITGA9):c.20C>G (p.Pro7Arg)	ITGA9 (P7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404295	NM_002207.3(ITGA9):c.26G>A (p.Gly9Asp)	ITGA9 (G9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729485	NM_002207.3(ITGA9):c.34A>C (p.Arg12=)	ITGA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261903	NM_002207.3(ITGA9):c.65T>G (p.Val22Gly)	ITGA9 (V22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111285	NM_002207.3(ITGA9):c.227C>G (p.Pro76Arg)	ITGA9 (P76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 702082	NM_002207.3(ITGA9):c.294C>A (p.Thr98=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder +1 more	GBenign
Select item 2309203	NM_002207.3(ITGA9):c.323G>T (p.Arg108Leu)	ITGA9 (R108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045257	NM_002207.3(ITGA9):c.329C>T (p.Thr110Met)	ITGA9 (T110M)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GLikely benign
Select item 3111286	NM_002207.3(ITGA9):c.413G>A (p.Arg138His)	ITGA9 (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555822	NM_002207.3(ITGA9):c.433C>T (p.Arg145Cys)	ITGA9 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111287	NM_002207.3(ITGA9):c.434G>A (p.Arg145His)	ITGA9 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672936	NM_002207.3(ITGA9):c.459C>T (p.Ala153=)	ITGA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3111288	NM_002207.3(ITGA9):c.460G>A (p.Asp154Asn)	ITGA9 (D154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615597	NM_002207.3(ITGA9):c.481T>C (p.Phe161Leu)	ITGA9 (F161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402987	NM_002207.3(ITGA9):c.545-8C>G	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder +1 more	GBenign
Select item 402988	NM_002207.3(ITGA9):c.609C>T (p.Thr203=)	ITGA9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3111289	NM_002207.3(ITGA9):c.680C>A (p.Thr227Lys)	ITGA9 (T227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111290	NM_002207.3(ITGA9):c.686A>G (p.Asn229Ser)	ITGA9 (N229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 697425	NM_002207.3(ITGA9):c.753G>A (p.Val251=)	ITGA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319031	NM_002207.3(ITGA9):c.757G>A (p.Ala253Thr)	ITGA9 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223858	NM_002207.3(ITGA9):c.805C>T (p.Pro269Ser)	ITGA9 (P269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596793	NM_002207.3(ITGA9):c.851G>A (p.Arg284Gln)	ITGA9 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496844	NM_002207.3(ITGA9):c.897+50T>A	ITGA9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3111291	NM_002207.3(ITGA9):c.917C>T (p.Ser306Phe)	ITGA9 (S306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111292	NM_002207.3(ITGA9):c.927C>G (p.Cys309Trp)	ITGA9 (C309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540700	NM_002207.3(ITGA9):c.928G>A (p.Ala310Thr)	ITGA9 (A310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543922	NM_002207.3(ITGA9):c.946G>T (p.Asp316Tyr)	ITGA9 (D316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297525	NM_002207.3(ITGA9):c.994A>G (p.Arg332Gly)	ITGA9 (R332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508986	NM_002207.3(ITGA9):c.1031G>A (p.Gly344Glu)	ITGA9 (G344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339821	NM_002207.3(ITGA9):c.1055T>C (p.Leu352Pro)	ITGA9 (L352P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035416	NM_002207.3(ITGA9):c.1081A>G (p.Asn361Asp)	ITGA9 (N361D)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GBenign
Select item 3111275	NM_002207.3(ITGA9):c.1128T>A (p.Asn376Lys)	ITGA9 (N376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278794	NM_002207.3(ITGA9):c.1172A>C (p.Asp391Ala)	ITGA9 (D391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037587	NM_002207.3(ITGA9):c.1210G>A (p.Gly404Ser)	ITGA9 (G404S)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GLikely benign
Select item 3038101	NM_002207.3(ITGA9):c.1233A>G (p.Ser411=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GBenign
Select item 2611224	NM_002207.3(ITGA9):c.1267C>A (p.Leu423Ile)	ITGA9 (L423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357826	NM_002207.3(ITGA9):c.1271G>A (p.Arg424Gln)	ITGA9 (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613873	NM_002207.3(ITGA9):c.1349T>C (p.Met450Thr)	ITGA9 (M450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111276	NM_002207.3(ITGA9):c.1375G>A (p.Ala459Thr)	ITGA9 (A459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111277	NM_002207.3(ITGA9):c.1415C>T (p.Pro472Leu)	ITGA9 (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050680	NM_002207.3(ITGA9):c.1416G>A (p.Pro472=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2595071	NM_002207.3(ITGA9):c.1480G>A (p.Val494Ile)	ITGA9 (V494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402989	NM_002207.3(ITGA9):c.1520G>A (p.Gly507Glu)	ITGA9 (G507E)	Single nucleotide variant (missense variant)	ITGA9-related disorder +1 more	GBenign
Select item 3111278	NM_002207.3(ITGA9):c.1549G>A (p.Ala517Thr)	ITGA9 (A517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 702040	NM_002207.3(ITGA9):c.1662G>A (p.Thr554=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder +1 more	GBenign
Select item 3111279	NM_002207.3(ITGA9):c.1666C>T (p.Arg556Cys)	ITGA9 (R556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283693	NM_002207.3(ITGA9):c.1667G>A (p.Arg556His)	ITGA9 (R556H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056335	NM_002207.3(ITGA9):c.1674T>C (p.Tyr558=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GBenign
Select item 697426	NM_002207.3(ITGA9):c.1689+10C>T	ITGA9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653660	NM_002207.3(ITGA9):c.1691G>A (p.Arg564Gln)	ITGA9 (R564Q)	Single nucleotide variant (missense variant)	ITGA9-related disorder +1 more	GBenign/Likely benign
Select item 2360153	NM_002207.3(ITGA9):c.1705G>A (p.Val569Ile)	ITGA9 (V569I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039131	NM_002207.3(ITGA9):c.1710C>T (p.Ile570=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2214569	NM_002207.3(ITGA9):c.1720G>A (p.Val574Met)	ITGA9 (V574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034815	NM_002207.3(ITGA9):c.1761A>G (p.Gly587=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 3040954	NM_002207.3(ITGA9):c.1764G>A (p.Glu588=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2631073	NM_002207.3(ITGA9):c.1786C>G (p.Leu596Val)	ITGA9 (L596V)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GUncertain significance
Select item 2486411	NM_002207.3(ITGA9):c.1804T>G (p.Trp602Gly)	ITGA9 (W602G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496845	NM_002207.3(ITGA9):c.1839+49G>C	ITGA9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3111281	NM_002207.3(ITGA9):c.1862G>C (p.Arg621Pro)	ITGA9 (R621P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511442	NM_002207.3(ITGA9):c.1912T>C (p.Ser638Pro)	ITGA9 (S638P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033456	NM_002207.3(ITGA9):c.1916+7C>T	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder	GLikely benign
Select item 3043753	NM_002207.3(ITGA9):c.1917-7G>T	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder	GLikely benign
Select item 2227593	NM_002207.3(ITGA9):c.1931C>T (p.Thr644Ile)	ITGA9 (T644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208876	NM_002207.3(ITGA9):c.1993G>A (p.Gly665Arg)	ITGA9 (G665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298881	NM_002207.3(ITGA9):c.2006A>G (p.Tyr669Cys)	ITGA9 (Y669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350916	NM_002207.3(ITGA9):c.2027A>G (p.Asn676Ser)	ITGA9 (N676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042237	NM_002207.3(ITGA9):c.2043C>T (p.Leu681=)	ITGA9	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 702568	NM_002207.3(ITGA9):c.2090A>G (p.Glu697Gly)	ITGA9 (E697G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3111282	NM_002207.3(ITGA9):c.2096T>A (p.Leu699Gln)	ITGA9 (L699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111283	NM_002207.3(ITGA9):c.2149T>A (p.Ser717Thr)	ITGA9 (S717T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037547	NM_002207.3(ITGA9):c.2167G>A (p.Val723Met)	ITGA9 (V723M)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GLikely benign
Select item 3111284	NM_002207.3(ITGA9):c.2194G>A (p.Gly732Arg)	ITGA9 (G732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336288	NM_002207.3(ITGA9):c.2228C>T (p.Ala743Val)	ITGA9 (A743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058766	NM_002207.3(ITGA9):c.2234+6G>T	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder	GLikely benign
Select item 3060254	NM_002207.3(ITGA9):c.2234+7G>C	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder	GBenign
Select item 3035004	NM_002207.3(ITGA9):c.2234+8G>C	ITGA9	Single nucleotide variant (intron variant)	ITGA9-related disorder	GLikely benign
Select item 2320085	NM_002207.3(ITGA9):c.2249G>A (p.Arg750His)	ITGA9 (R750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509246	NM_002207.3(ITGA9):c.2275C>G (p.Leu759Val)	ITGA9 (L759V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037361	NM_002207.3(ITGA9):c.2362G>A (p.Val788Met)	ITGA9 (V788M)	Single nucleotide variant (missense variant)	ITGA9-related disorder	GLikely benign
Select item 2467345	NM_002207.3(ITGA9):c.2368G>A (p.Ala790Thr)	ITGA9 (A790T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324263	NM_002207.3(ITGA9):c.2582C>T (p.Pro861Leu)	ITGA9, ITGA9-AS1 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322434	NM_002207.3(ITGA9):c.2614A>G (p.Asn872Asp)	ITGA9, ITGA9-AS1 (N872D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558767	NM_002207.3(ITGA9):c.2662G>A (p.Val888Ile)	ITGA9, ITGA9-AS1 (V888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 94048	NM_002207.3(ITGA9):c.2667+32G>A	ITGA9-AS1, ITGA9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 705397	NM_002207.3(ITGA9):c.2741G>A (p.Arg914His)	ITGA9, ITGA9-AS1 (R914H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608420	NM_002207.3(ITGA9):c.2814G>A (p.Met938Ile)	ITGA9, ITGA9-AS1 (M938I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046014	NM_002207.3(ITGA9):c.2820C>T (p.Arg940=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2469010	NM_002207.3(ITGA9):c.2850G>C (p.Arg950Ser)	ITGA9, ITGA9-AS1 (R950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388727	NM_002207.3(ITGA9):c.2888C>T (p.Thr963Met)	ITGA9, ITGA9-AS1 (T963M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 697697	NM_002207.3(ITGA9):c.2967G>A (p.Val989=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233065	NM_002207.3(ITGA9):c.2973C>G (p.Ile991Met)	ITGA9, ITGA9-AS1 (I991M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 701915	NM_002207.3(ITGA9):c.2994C>T (p.Ala998=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044453	NM_002207.3(ITGA9):c.3045C>T (p.Ile1015=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2347764	NM_002207.3(ITGA9):c.3061C>T (p.Arg1021Trp)	ITGA9, ITGA9-AS1 (R1021W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance

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