ClinVar for Gene (Select 3687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286818	NM_000887.5(ITGAX):c.610G>A (p.Glu204Lys)	ITGAX (E204K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286817	NM_000887.5(ITGAX):c.95T>C (p.Val32Ala)	ITGAX (V32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286816	NM_000887.5(ITGAX):c.728C>T (p.Ser243Leu)	ITGAX (S243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286815	NM_000887.5(ITGAX):c.2473G>A (p.Ala825Thr)	ITGAX (A825T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286814	NM_000887.5(ITGAX):c.1171A>G (p.Ile391Val)	ITGAX (I391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286813	NM_000887.5(ITGAX):c.634C>T (p.Pro212Ser)	ITGAX (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111409	NM_000887.5(ITGAX):c.91C>T (p.Arg31Cys)	ITGAX (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111408	NM_000887.5(ITGAX):c.871G>A (p.Ala291Thr)	ITGAX (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111406	NM_000887.5(ITGAX):c.713G>A (p.Arg238Gln)	ITGAX (R238Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111405	NM_000887.5(ITGAX):c.416C>T (p.Pro139Leu)	ITGAX (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111404	NM_000887.5(ITGAX):c.416C>A (p.Pro139Gln)	ITGAX (P139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111403	NM_000887.5(ITGAX):c.338A>G (p.His113Arg)	ITGAX (H113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111401	NM_000887.5(ITGAX):c.3096T>G (p.Cys1032Trp)	ITGAX (C1032W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111399	NM_000887.5(ITGAX):c.2648A>G (p.Asp883Gly)	ITGAX (D883G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111398	NM_000887.5(ITGAX):c.2533C>A (p.His845Asn)	ITGAX (H845N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111397	NM_000887.5(ITGAX):c.2524C>T (p.Arg842Cys)	ITGAX (R842C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111396	NM_000887.5(ITGAX):c.2263G>A (p.Ala755Thr)	ITGAX (A755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111395	NM_000887.5(ITGAX):c.1819C>T (p.Arg607Trp)	ITGAX (R607W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111394	NM_000887.5(ITGAX):c.1754G>A (p.Gly585Glu)	ITGAX (G585E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111393	NM_000887.5(ITGAX):c.160C>T (p.Pro54Ser)	ITGAX (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111392	NM_000887.5(ITGAX):c.1531T>C (p.Tyr511His)	ITGAX (Y511H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111391	NM_000887.5(ITGAX):c.1393G>A (p.Val465Met)	ITGAX (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111389	NM_000887.5(ITGAX):c.1379C>T (p.Ala460Val)	ITGAX (A460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111388	NM_000887.5(ITGAX):c.1362C>T (p.Ile454=)	ITGAX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3111387	NM_000887.5(ITGAX):c.1270G>C (p.Ala424Pro)	ITGAX (A424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111386	NM_000887.5(ITGAX):c.1187A>C (p.Glu396Ala)	ITGAX (E396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111385	NM_000887.5(ITGAX):c.1106C>T (p.Ala369Val)	ITGAX (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111384	NM_000887.5(ITGAX):c.1042G>A (p.Glu348Lys)	ITGAX (E348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111383	NM_000887.5(ITGAX):c.103G>A (p.Ala35Thr)	ITGAX (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646478	NM_000887.5(ITGAX):c.2616C>A (p.Gly872=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646477	NM_000887.5(ITGAX):c.1410C>T (p.Asp470=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588134	NM_000887.5(ITGAX):c.1742T>A (p.Leu581Gln)	ITGAX (L581Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564619	NM_000887.5(ITGAX):c.1735T>C (p.Ser579Pro)	ITGAX (S579P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555675	NM_000887.5(ITGAX):c.2611C>T (p.Arg871Cys)	ITGAX (R871C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551605	NM_000887.5(ITGAX):c.1883T>C (p.Ile628Thr)	ITGAX (I628T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550332	NM_000887.5(ITGAX):c.3278C>G (p.Thr1093Arg)	ITGAX (T1093R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530961	NM_000887.5(ITGAX):c.217A>T (p.Thr73Ser)	ITGAX (T73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530366	NM_000887.5(ITGAX):c.1708C>G (p.Gln570Glu)	ITGAX (Q570E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527678	NM_000887.5(ITGAX):c.3064T>G (p.Cys1022Gly)	ITGAX (C1022G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526725	NM_000887.5(ITGAX):c.1430T>G (p.Leu477Arg)	ITGAX (L477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520817	NM_000887.5(ITGAX):c.260C>T (p.Ala87Val)	ITGAX (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519910	NM_000887.5(ITGAX):c.793G>T (p.Asp265Tyr)	ITGAX (D265Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510514	NM_000887.5(ITGAX):c.1823G>A (p.Gly608Asp)	ITGAX (G608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494937	NM_000887.5(ITGAX):c.2435A>G (p.Glu812Gly)	ITGAX (E812G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482700	NM_000887.5(ITGAX):c.2710A>G (p.Asn904Asp)	ITGAX (N904D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399522	NM_000887.5(ITGAX):c.2159C>T (p.Pro720Leu)	ITGAX (P720L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387281	NM_000887.5(ITGAX):c.1435G>A (p.Gly479Arg)	ITGAX (G479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381006	NM_000887.5(ITGAX):c.1973T>C (p.Ile658Thr)	ITGAX (I658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378426	NM_000887.5(ITGAX):c.3472A>C (p.Ser1158Arg)	ITGAX (S1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371452	NM_000887.5(ITGAX):c.3010G>T (p.Ala1004Ser)	ITGAX (A1004S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369619	NM_000887.5(ITGAX):c.3368T>C (p.Ile1123Thr)	ITGAX (I1123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367678	NM_000887.5(ITGAX):c.3278C>T (p.Thr1093Met)	ITGAX (T1093M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362900	NM_000887.5(ITGAX):c.2989C>T (p.Arg997Trp)	ITGAX (R997W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361598	NM_000887.5(ITGAX):c.2105G>A (p.Arg702Gln)	ITGAX (R702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361132	NM_000887.5(ITGAX):c.188C>T (p.Thr63Met)	ITGAX (T63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355313	NM_000887.5(ITGAX):c.1816G>A (p.Ala606Thr)	ITGAX (A606T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351816	NM_000887.5(ITGAX):c.2054G>T (p.Arg685Leu)	ITGAX (R685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349745	NM_000887.5(ITGAX):c.235A>G (p.Ile79Val)	ITGAX (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347994	NM_000887.5(ITGAX):c.731A>G (p.Tyr244Cys)	ITGAX (Y244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340490	NM_000887.5(ITGAX):c.2065C>T (p.Arg689Cys)	ITGAX (R689C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337329	NM_000887.5(ITGAX):c.82A>G (p.Thr28Ala)	ITGAX (T28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333110	NM_000887.5(ITGAX):c.2264C>T (p.Ala755Val)	ITGAX (A755V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323741	NM_000887.5(ITGAX):c.3055G>C (p.Val1019Leu)	ITGAX (V1019L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308096	NM_000887.5(ITGAX):c.1726C>G (p.Gln576Glu)	ITGAX (Q576E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304384	NM_000887.5(ITGAX):c.2689A>T (p.Thr897Ser)	ITGAX (T897S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304029	NM_000887.5(ITGAX):c.3092G>A (p.Arg1031His)	ITGAX (R1031H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289609	NM_000887.5(ITGAX):c.2730C>G (p.Ser910Arg)	ITGAX (S910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287728	NM_000887.5(ITGAX):c.934C>T (p.His312Tyr)	ITGAX (H312Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286644	NM_000887.5(ITGAX):c.1992C>A (p.Asn664Lys)	ITGAX (N664K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275836	NM_000887.5(ITGAX):c.325G>A (p.Gly109Ser)	ITGAX (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273962	NM_000887.5(ITGAX):c.2395C>G (p.Leu799Val)	ITGAX (L799V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265802	NM_000887.5(ITGAX):c.1684C>T (p.Pro562Ser)	ITGAX (P562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248347	NM_000887.5(ITGAX):c.2434G>C (p.Glu812Gln)	ITGAX (E812Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245803	NM_000887.5(ITGAX):c.1271C>T (p.Ala424Val)	ITGAX (A424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243864	NM_000887.5(ITGAX):c.3213A>T (p.Glu1071Asp)	ITGAX (E1071D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240585	NM_000887.5(ITGAX):c.1982G>C (p.Arg661Pro)	ITGAX (R661P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240441	NM_000887.5(ITGAX):c.1362C>G (p.Ile454Met)	ITGAX (I454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224636	NM_000887.5(ITGAX):c.2677C>T (p.Arg893Trp)	ITGAX (R893W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223876	NM_000887.5(ITGAX):c.1768G>A (p.Gly590Arg)	ITGAX (G590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223422	NM_000887.5(ITGAX):c.1370A>G (p.Tyr457Cys)	ITGAX (Y457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221560	NM_000887.5(ITGAX):c.242T>G (p.Leu81Arg)	ITGAX (L81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219133	NM_000887.5(ITGAX):c.3328G>A (p.Val1110Ile)	ITGAX (V1110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290142	NM_000887.5(ITGAX):c.1550C>G (p.Pro517Arg)	ITGAX (P517R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 771487	NM_000887.5(ITGAX):c.2660A>G (p.Lys887Arg)	ITGAX (K887R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735739	NM_000887.5(ITGAX):c.3099C>T (p.Asp1033=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729197	NM_000887.5(ITGAX):c.1463G>A (p.Arg488Gln)	ITGAX (R488Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725689	NM_000887.5(ITGAX):c.1392C>T (p.Ser464=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718239	NM_000887.5(ITGAX):c.1239C>T (p.Leu413=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708897	NM_000887.5(ITGAX):c.1434C>T (p.Ile478=)	ITGAX	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +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
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic

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