IL6R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 1374189	NM_000565.4(IL6R):c.9_15del (p.Val4fs)	IL6R, IL6R-AS1 (V4fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1955155	NM_000565.4(IL6R):c.7G>T (p.Ala3Ser)	IL6R, IL6R-AS1 (A3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417292	NM_000565.4(IL6R):c.10G>T (p.Val4Phe)	IL6R, IL6R-AS1 (V4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510441	NM_000565.4(IL6R):c.47C>T (p.Pro16Leu)	IL6R, IL6R-AS1 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516883	NM_000565.4(IL6R):c.50G>C (p.Gly17Ala)	IL6R, IL6R-AS1 (G17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164781	NM_000565.4(IL6R):c.51A>G (p.Gly17=)	IL6R, IL6R-AS1	Single nucleotide variant (synonymous variant)	IL6R-related disorder +1 more	GBenign/Likely benign
Select item 1373809	NM_000565.4(IL6R):c.55G>A (p.Ala19Thr)	IL6R, IL6R-AS1 (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509450	NM_000565.4(IL6R):c.77C>T (p.Pro26Leu)	IL6R, IL6R-AS1 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920815	NM_000565.4(IL6R):c.85+11C>A	IL6R, IL6R-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032615	NM_000565.4(IL6R):c.85+12G>T	IL6R, IL6R-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831069	NM_000565.4(IL6R):c.85+14G>A	IL6R, IL6R-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972597	NM_000565.4(IL6R):c.85+19C>T	IL6R, IL6R-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164401	NM_000565.4(IL6R):c.93G>A (p.Ala31=)	IL6R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1991296	NM_000565.4(IL6R):c.99C>T (p.Gly33=)	IL6R	Single nucleotide variant (synonymous variant)	IL6R-related disorder +1 more	GLikely benign
Select item 1896556	NM_000565.4(IL6R):c.100G>A (p.Val34Met)	IL6R (V34M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579357	NM_000565.4(IL6R):c.102G>A (p.Val34=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575208	NM_000565.4(IL6R):c.105G>C (p.Leu35=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518026	NM_000565.4(IL6R):c.106A>G (p.Thr36Ala)	IL6R (T36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367981	NM_000565.4(IL6R):c.123C>G (p.Asp41Glu)	IL6R (D41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715552	NM_000565.4(IL6R):c.126C>T (p.Ser42=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1356226	NM_000565.4(IL6R):c.127G>A (p.Val43Met)	IL6R (V43M)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive +1 more	GUncertain significance
Select item 2183530	NM_000565.4(IL6R):c.143C>T (p.Pro48Leu)	IL6R (P48L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996183	NM_000565.4(IL6R):c.143C>A (p.Pro48Gln)	IL6R (P48Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803065	NM_000565.4(IL6R):c.144G>C (p.Pro48=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2146966	NM_000565.4(IL6R):c.144G>A (p.Pro48=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1451027	NM_000565.4(IL6R):c.155C>T (p.Pro52Leu)	IL6R (P52L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976168	NM_000565.4(IL6R):c.164A>G (p.Asn55Ser)	IL6R (N55S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1628346	NM_000565.4(IL6R):c.168C>G (p.Ala56=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1438988	NM_000565.4(IL6R):c.172G>T (p.Val58Phe)	IL6R (V58F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143999	NM_000565.4(IL6R):c.194C>T (p.Pro65Leu)	IL6R (P65L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1438003	NM_000565.4(IL6R):c.197C>A (p.Ala66Asp)	IL6R (A66D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179460	NM_000565.4(IL6R):c.205T>C (p.Ser69Pro)	IL6R (S69P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1164782	NM_000565.4(IL6R):c.210C>T (p.His70=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2082484	NM_000565.4(IL6R):c.213C>T (p.Pro71=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1495608	NM_000565.4(IL6R):c.215G>A (p.Ser72Asn)	IL6R (S72N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1357006	NM_000565.4(IL6R):c.239G>T (p.Arg80Met)	IL6R (R80M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1597672	NM_000565.4(IL6R):c.255G>C (p.Ser85=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971489	NM_000565.4(IL6R):c.258G>T (p.Val86=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981221	NM_000565.4(IL6R):c.267C>T (p.His89=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1025282	NM_000565.4(IL6R):c.272C>T (p.Ser91Phe)	IL6R (S91F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2251128	NM_000565.4(IL6R):c.280T>C (p.Tyr94His)	IL6R (Y94H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1582973	NM_000565.4(IL6R):c.285A>G (p.Ser95=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441217	NM_000565.4(IL6R):c.292C>T (p.Arg98Trp)	IL6R (R98W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1002948	NM_000565.4(IL6R):c.293G>A (p.Arg98Gln)	IL6R (R98Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1379839	NM_000565.4(IL6R):c.298G>A (p.Gly100Ser)	IL6R (G100S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1537662	NM_000565.4(IL6R):c.300C>T (p.Gly100=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082590	NM_000565.4(IL6R):c.301C>T (p.Arg101Cys)	IL6R (R101C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393558	NM_000565.4(IL6R):c.302G>A (p.Arg101His)	IL6R (R101H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1928836	NM_000565.4(IL6R):c.302G>T (p.Arg101Leu)	IL6R (R101L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1627326	NM_000565.4(IL6R):c.315T>C (p.Thr105=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1953655	NM_000565.4(IL6R):c.316G>A (p.Val106Met)	IL6R (V106M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424188	NM_000565.4(IL6R):c.317T>G (p.Val106Gly)	IL6R (V106G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468109	NM_000565.4(IL6R):c.330G>A (p.Val110=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1364808	NM_000565.4(IL6R):c.333T>C (p.Asp111=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2011034	NM_000565.4(IL6R):c.334G>A (p.Val112Ile)	IL6R (V112I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1542335	NM_000565.4(IL6R):c.334+10G>T	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901861	NM_000565.4(IL6R):c.334+11C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632503	NM_000565.4(IL6R):c.334+15A>G	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688500	NM_000565.4(IL6R):c.334+52T>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2082792	NM_000565.4(IL6R):c.335-17C>G	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134308	NM_000565.4(IL6R):c.335-8C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716050	NM_000565.4(IL6R):c.342C>A (p.Pro114=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1116793	NM_000565.4(IL6R):c.342C>T (p.Pro114=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967737	NM_000565.4(IL6R):c.343G>A (p.Glu115Lys)	IL6R (E115K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806663	NM_000565.4(IL6R):c.344A>T (p.Glu115Val)	IL6R (E115V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516121	NM_000565.4(IL6R):c.354G>C (p.Gln118His)	IL6R (Q118H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941393	NM_000565.4(IL6R):c.363C>T (p.Cys121=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1034508	NM_000565.4(IL6R):c.379C>G (p.Leu127Val)	IL6R (L127V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872670	NM_000565.4(IL6R):c.399G>A (p.Glu133=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1610827	NM_000565.4(IL6R):c.408T>A (p.Pro136=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1914059	NM_000565.4(IL6R):c.409C>T (p.Arg137Trp)	IL6R (R137W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990854	NM_000565.4(IL6R):c.417C>T (p.Thr139=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1716913	NM_000565.4(IL6R):c.421T>A (p.Ser141Thr)	IL6R (S141T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014318	NM_000565.4(IL6R):c.423C>A (p.Ser141=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1488146	NM_000565.4(IL6R):c.428C>T (p.Thr143Met)	IL6R (T143M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1649287	NM_000565.4(IL6R):c.429G>A (p.Thr143=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931414	NM_000565.4(IL6R):c.442C>T (p.Leu148Phe)	IL6R (L148F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3053397	NM_000565.4(IL6R):c.458+7A>G	IL6R	Single nucleotide variant (intron variant)	IL6R-related disorder	GLikely benign
Select item 2715482	NM_000565.4(IL6R):c.458+20C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1494742	NM_000565.4(IL6R):c.459-3C>T	IL6R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1615268	NM_000565.4(IL6R):c.471G>A (p.Pro157=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	IL6R-related disorder +1 more	GLikely benign
Select item 1639547	NM_000565.4(IL6R):c.474C>T (p.Ala158=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486660	NM_000565.4(IL6R):c.478G>T (p.Asp160Tyr)	IL6R (D160Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916559	NM_000565.4(IL6R):c.479A>C (p.Asp160Ala)	IL6R (D160A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1556632	NM_000565.4(IL6R):c.483C>T (p.Phe161=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1400318	NM_000565.4(IL6R):c.491C>T (p.Pro164Leu)	IL6R (P164L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386752	NM_000565.4(IL6R):c.499T>C (p.Tyr167His)	IL6R (Y47H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972440	NM_000565.4(IL6R):c.543G>A (p.Pro181=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 973502	NM_000565.4(IL6R):c.548del (p.Gly183fs)	IL6R (G183fs +1 more)	Deletion (frameshift variant)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GPathogenic
Select item 1377985	NM_000565.4(IL6R):c.565A>G (p.Ile189Val)	IL6R (I69V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045111	NM_000565.4(IL6R):c.574A>G (p.Met192Val)	IL6R (M72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520661	NM_000565.4(IL6R):c.575T>C (p.Met192Thr)	IL6R (M192T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647943	NM_000565.4(IL6R):c.579C>T (p.Cys193=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933911	NM_000565.4(IL6R):c.580G>A (p.Val194Ile)	IL6R (V74I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990405	NM_000565.4(IL6R):c.582C>G (p.Val194=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927873	NM_000565.4(IL6R):c.594C>T (p.Val198=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415603	NM_000565.4(IL6R):c.595G>A (p.Gly199Arg)	IL6R (G199R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092234	NM_000565.4(IL6R):c.615T>G (p.Thr205=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351634	NM_000565.4(IL6R):c.629G>A (p.Gly210Asp)	IL6R (G210D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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