IL4R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144353	GRCh38/hg38 16p12.1(chr16:26485169-27400746)x3	C16orf82, IL4R +29 more	Copy number gain	See cases	GUncertain significance
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 771761	NM_000418.4(IL4R):c.108C>T (p.Ser36=)	IL4R	Single nucleotide variant (synonymous variant +1 more)	IL4R-related disorder +1 more	GBenign
Select item 3109439	NM_000418.4(IL4R):c.133G>A (p.Glu45Lys)	IL4R (E45K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442131	NM_000418.4(IL4R):c.134A>G (p.Glu45Gly)	IL4R (E30G +1 more)	Single nucleotide variant (missense variant +1 more)	IgE responsiveness, atopic	GUncertain significance
Select item 2457376	NM_000418.4(IL4R):c.169G>A (p.Glu57Lys)	IL4R (E42K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361862	NM_000418.4(IL4R):c.175C>T (p.Arg59Cys)	IL4R (R59C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781201	NM_000418.4(IL4R):c.209+9G>C	IL4R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14666	NM_000418.4(IL4R):c.223A>G (p.Ile75Val)	IL4R (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	RECLASSIFIED - POLYMORPHISM	GBenign
Select item 718605	NM_000418.4(IL4R):c.237C>T (p.Asn79=)	IL4R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3043783	NM_000418.4(IL4R):c.244G>A (p.Ala82Thr)	IL4R (A67T +1 more)	Single nucleotide variant (missense variant +1 more)	IL4R-related disorder	GBenign
Select item 3109448	NM_000418.4(IL4R):c.245C>T (p.Ala82Val)	IL4R (A82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 778606	NM_000418.4(IL4R):c.291T>C (p.Asp97=)	IL4R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2360543	NM_000418.4(IL4R):c.355G>A (p.Glu119Lys)	IL4R (E104K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544207	NM_000418.4(IL4R):c.370A>G (p.Arg124Gly)	IL4R (R109G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109449	NM_000418.4(IL4R):c.437C>T (p.Pro146Leu)	IL4R (P131L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249995	NM_000418.4(IL4R):c.496G>C (p.Glu166Gln)	IL4R (E151Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109450	NM_000418.4(IL4R):c.520A>G (p.Ile174Val)	IL4R (I174V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253102	NM_000418.4(IL4R):c.595G>A (p.Ala199Thr)	IL4R (A39T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224161	NM_000418.4(IL4R):c.601G>A (p.Val201Met)	IL4R (V186M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265949	NM_000418.4(IL4R):c.648C>A (p.Ser216Arg)	IL4R (S201R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488041	NM_000418.4(IL4R):c.687C>G (p.Phe229Leu)	IL4R (F69L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109451	NM_000418.4(IL4R):c.688G>A (p.Glu230Lys)	IL4R (E230K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768763	NM_000418.4(IL4R):c.768C>G (p.Thr256=)	IL4R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708028	NM_000418.4(IL4R):c.812G>A (p.Arg271His)	IL4R (R271H +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder +1 more	GBenign
Select item 2480869	NM_000418.4(IL4R):c.817C>T (p.Arg273Cys)	IL4R (R273C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277811	NM_000418.4(IL4R):c.818G>A (p.Arg273His)	IL4R (R258H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 710743	NM_000418.4(IL4R):c.822C>G (p.Leu274=)	IL4R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317710	NM_000418.4(IL4R):c.832A>G (p.Ile278Val)	IL4R (I118V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 750336	NM_000418.4(IL4R):c.849+10G>C	IL4R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3051933	NM_000418.4(IL4R):c.850-9G>C	IL4R	Single nucleotide variant (intron variant)	IL4R-related disorder	GLikely benign
Select item 3109452	NM_000418.4(IL4R):c.875G>A (p.Arg292Gln)	IL4R (R132Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554912	NM_000418.4(IL4R):c.929T>C (p.Leu310Ser)	IL4R (L150S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348751	NM_000418.4(IL4R):c.968A>T (p.Asp323Val)	IL4R (D163V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109435	NM_000418.4(IL4R):c.1072G>A (p.Val358Met)	IL4R (V343M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047445	NM_000418.4(IL4R):c.1100C>A (p.Ala367Asp)	IL4R (A207D +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder	GLikely benign
Select item 2493213	NM_000418.4(IL4R):c.1119G>C (p.Glu373Asp)	IL4R (E213D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626118	NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)	IL4R (S387L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3109437	NM_000418.4(IL4R):c.1178A>T (p.Asp393Val)	IL4R (D378V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056511	NM_000418.4(IL4R):c.1199A>C (p.Glu400Ala)	IL4R (E240A +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder	GBenign
Select item 3056799	NM_000418.4(IL4R):c.1242G>T (p.Leu414=)	IL4R	Single nucleotide variant (synonymous variant)	IL4R-related disorder	GBenign
Select item 3109438	NM_000418.4(IL4R):c.1281G>T (p.Met427Ile)	IL4R (M412I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056489	NM_000418.4(IL4R):c.1291T>C (p.Cys431Arg)	IL4R (C271R +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder	GBenign
Select item 3056761	NM_000418.4(IL4R):c.1299T>C (p.Leu433=)	IL4R	Single nucleotide variant (synonymous variant)	IL4R-related disorder	GBenign
Select item 3109440	NM_000418.4(IL4R):c.1379G>A (p.Gly460Asp)	IL4R (G460D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302165	NM_000418.4(IL4R):c.1379G>T (p.Gly460Val)	IL4R (G300V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045086	NM_000418.4(IL4R):c.1425G>A (p.Pro475=)	IL4R	Single nucleotide variant (synonymous variant)	IL4R-related disorder	GLikely benign
Select item 2317709	NM_000418.4(IL4R):c.1439A>G (p.Asp480Gly)	IL4R (D480G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776995	NM_000418.4(IL4R):c.1474G>A (p.Ala492Thr)	IL4R (A477T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3046364	NM_000418.4(IL4R):c.1475C>T (p.Ala492Val)	IL4R (A332V +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder	GLikely benign
Select item 14667	NM_000418.4(IL4R):c.1507T>C (p.Ser503Pro)	IL4R (S503P +2 more)	Single nucleotide variant (missense variant)	RECLASSIFIED - POLYMORPHISM	Gprotective
Select item 2355062	NM_000418.4(IL4R):c.1565A>G (p.His522Arg)	IL4R (H362R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491382	NM_000418.4(IL4R):c.1663C>T (p.Arg555Cys)	IL4R (R555C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340670	NM_000418.4(IL4R):c.1675C>G (p.Leu559Val)	IL4R (L399V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052235	NM_000418.4(IL4R):c.1701C>T (p.Pro567=)	IL4R	Single nucleotide variant (synonymous variant)	IL4R-related disorder	GLikely benign
Select item 14665	NM_000418.4(IL4R):c.1727A>G (p.Gln576Arg)	IL4R (Q576R +2 more)	Single nucleotide variant (missense variant)	RECLASSIFIED - POLYMORPHISM	GBenign
Select item 776996	NM_000418.4(IL4R):c.1735G>A (p.Val579Ile)	IL4R (V419I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2646339	NM_000418.4(IL4R):c.1758C>T (p.Gly586=)	IL4R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109441	NM_000418.4(IL4R):c.1760C>T (p.Thr587Ile)	IL4R (T427I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 827982	NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)	IL4R (V432L +2 more)	Single nucleotide variant (missense variant)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 3109442	NM_000418.4(IL4R):c.1840G>A (p.Ala614Thr)	IL4R (A454T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540571	NM_000418.4(IL4R):c.1913T>C (p.Ile638Thr)	IL4R (I623T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109443	NM_000418.4(IL4R):c.1994C>T (p.Pro665Leu)	IL4R (P505L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271905	NM_000418.4(IL4R):c.2026G>C (p.Glu676Gln)	IL4R (E516Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329110	NM_000418.4(IL4R):c.2048G>A (p.Gly683Glu)	IL4R (G523E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320468	NM_000418.4(IL4R):c.2057T>C (p.Val686Ala)	IL4R (V526A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594841	NM_000418.4(IL4R):c.2077C>T (p.Pro693Ser)	IL4R (P533S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109445	NM_000418.4(IL4R):c.2107C>G (p.Leu703Val)	IL4R (L543V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109446	NM_000418.4(IL4R):c.2128G>A (p.Gly710Ser)	IL4R (G710S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109447	NM_000418.4(IL4R):c.2248G>A (p.Asp750Asn)	IL4R (D750N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269351	NM_000418.4(IL4R):c.2249A>G (p.Asp750Gly)	IL4R (D735G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051452	NM_000418.4(IL4R):c.2349G>A (p.Ser783=)	IL4R	Single nucleotide variant (synonymous variant)	IL4R-related disorder	GLikely benign
Select item 2629780	NM_000418.4(IL4R):c.2350G>A (p.Gly784Ser)	IL4R (G624S +2 more)	Single nucleotide variant (missense variant)	IL4R-related disorder	GUncertain significance
Select item 779011	NM_000418.4(IL4R):c.2356T>C (p.Ser786Pro)	IL4R (S626P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289123	NM_000418.4(IL4R):c.2413T>G (p.Ser805Ala)	IL4R (S805A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491875	NM_000418.4(IL4R):c.2425C>T (p.Pro809Ser)	IL4R (P649S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590128	NM_000418.4(IL4R):c.2443G>A (p.Val815Ile)	IL4R (V655I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059990	NM_000418.4(IL4R):c.*6T>C	IL4R	Single nucleotide variant (3 prime UTR variant)	IL4R-related disorder	GBenign
Select item 3063434	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 979449	GRCh37/hg19 16p12.1(chr16:26457597-27420153)x3	C16orf82, IL4R +3 more	Copy number gain	not provided	GUncertain significance
Select item 979448	GRCh37/hg19 16p12.1(chr16:27277775-27814900)x3	IL4R, GTF3C1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic

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