ClinVar for Gene (Select 3570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346065	NM_000565.4(IL6R):c.903C>T (p.Gly301=)	IL6R	Single nucleotide variant (synonymous variant)	IL6R-related disorder	GUncertain significance
Select item 3250425	NM_000565.4(IL6R):c.368G>A (p.Arg123Gln)	IL6R (R123Q)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GUncertain significance
Select item 3247899	NC_000001.10:g.(?_154378106)_(154408606_?)dup	IL6R	Duplication	not provided	GUncertain significance
Select item 3247898	NC_000001.10:g.(?_154437590)_(154437856_?)dup	IL6R	Duplication	not provided	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3242202	NM_000565.4(IL6R):c.284C>G (p.Ser95Ter)	IL6R (S95*)	Single nucleotide variant (nonsense +1 more)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GUncertain significance
Select item 3109463	NM_000565.4(IL6R):c.1298C>A (p.Ser433Tyr)	IL6R (S431Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	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 3041305	NM_000565.4(IL6R):c.949+1318_949+1320dup	IL6R	Duplication (intron variant)	IL6R-related disorder	GLikely benign
Select item 3023204	NM_000565.4(IL6R):c.950-18C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2997204	NM_000565.4(IL6R):c.640+11T>C	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997091	NM_000565.4(IL6R):c.1206A>C (p.Thr402=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991734	NM_000565.4(IL6R):c.1067-18A>T	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2990405	NM_000565.4(IL6R):c.582C>G (p.Val194=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976413	NM_000565.4(IL6R):c.641-18T>C	IL6R	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 2971489	NM_000565.4(IL6R):c.258G>T (p.Val86=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962312	NM_000565.4(IL6R):c.678C>T (p.Ala226=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957883	NM_000565.4(IL6R):c.1329G>A (p.Ser443=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905470	NM_000565.4(IL6R):c.747C>T (p.Tyr249=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889700	NM_000565.4(IL6R):c.939G>A (p.Thr313=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889699	NM_000565.4(IL6R):c.1053G>A (p.Ala351=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887707	NM_000565.4(IL6R):c.1371T>C (p.Tyr457=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872933	NM_000565.4(IL6R):c.1062C>T (p.Leu354=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2845436	NM_000565.4(IL6R):c.1299C>T (p.Ser433=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832185	NM_000565.4(IL6R):c.693C>T (p.Pro231=)	IL6R	Single nucleotide variant (synonymous 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 2830870	NM_000565.4(IL6R):c.808-17C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2803065	NM_000565.4(IL6R):c.144G>C (p.Pro48=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2745871	NM_000565.4(IL6R):c.888G>A (p.Glu296=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723253	NM_000565.4(IL6R):c.906G>A (p.Glu302=)	IL6R	Single nucleotide variant (synonymous 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 2715482	NM_000565.4(IL6R):c.458+20C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704974	NM_000565.4(IL6R):c.1160+13C>G	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701641	NM_000565.4(IL6R):c.949+12G>A	IL6R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688545	NM_000565.4(IL6R):c.641-47A>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688523	NM_000565.4(IL6R):c.808-105T>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688500	NM_000565.4(IL6R):c.334+52T>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688366	NM_000565.4(IL6R):c.*40T>C	IL6R	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2688363	NM_000565.4(IL6R):c.949+1320dup	IL6R	Duplication (intron variant)	not specified	GBenign
Select item 2688005	NM_000565.4(IL6R):c.807+81T>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687978	NM_000565.4(IL6R):c.950-2186T>C	IL6R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2639370	NM_000565.4(IL6R):c.1089A>G (p.Pro363=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639369	NM_000565.4(IL6R):c.957G>A (p.Arg319=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609599	NM_000565.4(IL6R):c.947C>T (p.Thr316Ile)	IL6R (T196I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2604617	NM_000565.4(IL6R):c.886G>A (p.Glu296Lys)	IL6R (E296K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2513955	NM_000565.4(IL6R):c.1261A>C (p.Thr421Pro)	IL6R (T454P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457987	NM_000565.4(IL6R):c.1360C>T (p.Arg454Trp)	IL6R (R452W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 2423329	NC_000001.10:g.(?_154420581)_(154422476_?)del	IL6R	Deletion	not provided	GUncertain significance
Select item 2419644	NM_000565.4(IL6R):c.1098A>G (p.Thr366=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416314	NM_000565.4(IL6R):c.878G>A (p.Arg293His)	IL6R (R173H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408361	NM_000565.4(IL6R):c.1231G>A (p.Gly411Arg)	IL6R (G409R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2393360	NM_000565.4(IL6R):c.1394T>A (p.Phe465Tyr)	IL6R (F463Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284585	NM_000565.4(IL6R):c.1058G>A (p.Ser353Asn)	IL6R (S353N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255766	NM_000565.4(IL6R):c.787A>G (p.Lys263Glu)	IL6R (K263E +1 more)	Single nucleotide variant (missense variant)	not specified	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 2236663	NM_000565.4(IL6R):c.1016A>G (p.Asp339Gly)	IL6R (D370G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227191	NM_000565.4(IL6R):c.1365C>G (p.Ser455Arg)	IL6R (S453R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2197971	NM_000565.4(IL6R):c.808-3C>T	IL6R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2186265	NM_000565.4(IL6R):c.950-5C>T	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2182930	NM_000565.4(IL6R):c.912C>T (p.Ser304=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2178980	NM_000565.4(IL6R):c.1018G>A (p.Asp340Asn)	IL6R (D338N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167190	NM_000565.4(IL6R):c.992T>C (p.Met331Thr)	IL6R (M211T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163861	NM_000565.4(IL6R):c.1305C>T (p.Ser435=)	IL6R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2148093	NM_000565.4(IL6R):c.864C>T (p.His288=)	IL6R	Single nucleotide variant (synonymous variant)	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 2140141	NM_000565.4(IL6R):c.726C>T (p.His242=)	IL6R	Single nucleotide variant (synonymous 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 2130240	NM_000565.4(IL6R):c.1161-16G>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128448	NM_000565.4(IL6R):c.808-5C>T	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111503	NM_000565.4(IL6R):c.681G>T (p.Val227=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100209	NM_000565.4(IL6R):c.996+17G>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097155	NM_000565.4(IL6R):c.645G>A (p.Gln215=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092591	NM_000565.4(IL6R):c.1052C>A (p.Ala351Glu)	IL6R (A351E +4 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 2082792	NM_000565.4(IL6R):c.335-17C>G	IL6R	Single nucleotide variant (intron variant)	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 +1 more	GUncertain significance
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 2078710	NM_000565.4(IL6R):c.691C>A (p.Pro231Thr)	IL6R (P231T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068591	NM_000565.4(IL6R):c.1052C>T (p.Ala351Val)	IL6R (A231V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062894	NM_000565.4(IL6R):c.975C>T (p.Asn325=)	IL6R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2032615	NM_000565.4(IL6R):c.85+12G>T	IL6R-AS1, IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023328	NM_000565.4(IL6R):c.1070A>G (p.Gln357Arg)	IL6R (Q237R +5 more)	Single nucleotide variant (missense 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 2009201	NM_000565.4(IL6R):c.1067-5C>A	IL6R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003072	NM_000565.4(IL6R):c.968C>T (p.Ala323Val)	IL6R (A203V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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