IL6ST[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 638017	NC_000005.10:g.55247753A>G	CCNO-DT, IL6ST	Single nucleotide variant	Stuve-Wiedemann syndrome	GPathogenic
Select item 3011735	NM_002184.4(IL6ST):c.2755T>A (p.Ter919Arg)	IL6ST	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 2056706	NM_002184.4(IL6ST):c.2740G>A (p.Gly914Ser)	IL6ST (G880S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2203402	NM_002184.4(IL6ST):c.2739C>T (p.Gly913=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1716341	NM_002184.4(IL6ST):c.2737G>A (p.Gly913Ser)	IL6ST (G581S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1164181	NM_002184.4(IL6ST):c.2736A>G (p.Gln912=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1505497	NM_002184.4(IL6ST):c.2732G>A (p.Arg911Gln)	IL6ST (R579Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2791185	NM_002184.4(IL6ST):c.2731C>T (p.Arg911Trp)	IL6ST (R850W +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2815687	NM_002184.4(IL6ST):c.2708A>T (p.Lys903Ile)	IL6ST (K842I +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2744767	NM_002184.4(IL6ST):c.2702T>G (p.Met901Arg)	IL6ST (M569R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1003134	NM_002184.4(IL6ST):c.2702T>C (p.Met901Thr)	IL6ST (M569T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1901498	NM_002184.4(IL6ST):c.2699G>A (p.Gly900Asp)	IL6ST (G568D +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2132433	NM_002184.4(IL6ST):c.2663T>A (p.Phe888Tyr)	IL6ST (F827Y +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 774177	NM_002184.4(IL6ST):c.2653G>A (p.Val885Ile)	IL6ST (V553I +6 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder +1 more	GBenign
Select item 2769998	NM_002184.4(IL6ST):c.2644G>C (p.Glu882Gln)	IL6ST (E882Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2918054	NM_002184.4(IL6ST):c.2641A>G (p.Thr881Ala)	IL6ST (T549A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1936782	NM_002184.4(IL6ST):c.2639G>A (p.Gly880Asp)	IL6ST (G548D +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1925088	NM_002184.4(IL6ST):c.2632G>C (p.Gly878Arg)	IL6ST (G577R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1519246	NM_002184.4(IL6ST):c.2618C>T (p.Ala873Val)	IL6ST (A541V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1440639	NM_002184.4(IL6ST):c.2598A>T (p.Lys866Asn)	IL6ST (K565N +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 999994	NM_002184.4(IL6ST):c.2593A>G (p.Met865Val)	IL6ST (M533V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1964242	NM_002184.4(IL6ST):c.2582G>T (p.Gly861Val)	IL6ST (G560V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2824344	NM_002184.4(IL6ST):c.2574A>G (p.Gln858=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2761130	NM_002184.4(IL6ST):c.2567T>C (p.Ile856Thr)	IL6ST (I555T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1025534	NM_002184.4(IL6ST):c.2564A>C (p.His855Pro)	IL6ST (H523P +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1492250	NM_002184.4(IL6ST):c.2563C>A (p.His855Asn)	IL6ST (H523N +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2143579	NM_002184.4(IL6ST):c.2547A>G (p.Lys849=)	IL6ST	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2856708	NM_002184.4(IL6ST):c.2542C>G (p.Leu848Val)	IL6ST (L778V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2755584	NM_002184.4(IL6ST):c.2542C>A (p.Leu848Ile)	IL6ST (L848I +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2820563	NM_002184.4(IL6ST):c.2526G>C (p.Glu842Asp)	IL6ST (E808D +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1094059	NM_002184.4(IL6ST):c.2525A>G (p.Glu842Gly)	IL6ST (E510G +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1107603	NM_002184.4(IL6ST):c.2517A>C (p.Ser839=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2745237	NM_002184.4(IL6ST):c.2514A>C (p.Ser838=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2772110	NM_002184.4(IL6ST):c.2513C>T (p.Ser838Leu)	IL6ST (S506L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2975612	NM_002184.4(IL6ST):c.2510T>G (p.Val837Gly)	IL6ST (V548G +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1901693	NM_002184.4(IL6ST):c.2480A>C (p.Asp827Ala)	IL6ST (D526A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2488848	NM_002184.4(IL6ST):c.2474G>A (p.Ser825Asn)	IL6ST (S536N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1376502	NM_002184.4(IL6ST):c.2465A>G (p.His822Arg)	IL6ST (H490R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2995466	NM_002184.4(IL6ST):c.2458A>G (p.Ser820Gly)	IL6ST (S519G +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2784389	NM_002184.4(IL6ST):c.2455T>C (p.Cys819Arg)	IL6ST (C487R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2636459	NM_002184.4(IL6ST):c.2450A>G (p.Gln817Arg)	IL6ST (Q485R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1184414	NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg)	IL6ST (K484R +6 more)	Single nucleotide variant (missense variant +2 more)	Hyper-IgE recurrent infection syndrome 4, autosomal recessive +1 more	GUncertain significance
Select item 1960467	NM_002184.4(IL6ST):c.2432G>C (p.Arg811Thr)	IL6ST (R522T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1667570	NM_002184.4(IL6ST):c.2431A>C (p.Arg811=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3004594	NM_002184.4(IL6ST):c.2428C>T (p.Pro810Ser)	IL6ST (P776S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1899945	NM_002184.4(IL6ST):c.2413G>A (p.Gly805Ser)	IL6ST (G735S +6 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder +1 more	GUncertain significance
Select item 1389423	NM_002184.4(IL6ST):c.2404G>A (p.Val802Ile)	IL6ST (V732I +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2972031	NM_002184.4(IL6ST):c.2403T>C (p.His801=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1360471	NM_002184.4(IL6ST):c.2403T>G (p.His801Gln)	IL6ST (H500Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2989987	NM_002184.4(IL6ST):c.2400T>C (p.Asp800=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1426775	NM_002184.4(IL6ST):c.2391A>G (p.Gln797=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2792016	NM_002184.4(IL6ST):c.2382A>G (p.Glu794=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1934249	NM_002184.4(IL6ST):c.2375G>A (p.Arg792Gln)	IL6ST (R758Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2809054	NM_002184.4(IL6ST):c.2362G>A (p.Asp788Asn)	IL6ST (D499N +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2128548	NM_002184.4(IL6ST):c.2344T>G (p.Ser782Ala)	IL6ST (S493A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1441572	NM_002184.4(IL6ST):c.2341G>C (p.Glu781Gln)	IL6ST (E781Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1164182	NM_002184.4(IL6ST):c.2340C>T (p.Ser780=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1919760	NM_002184.4(IL6ST):c.2331C>T (p.Phe777=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016689	NM_002184.4(IL6ST):c.2316G>C (p.Pro772=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2970121	NM_002184.4(IL6ST):c.2315C>T (p.Pro772Leu)	IL6ST (P471L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2051022	NM_002184.4(IL6ST):c.2284G>A (p.Val762Met)	IL6ST (V430M +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1552300	NM_002184.4(IL6ST):c.2283C>T (p.Thr761=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1342186	NM_002184.4(IL6ST):c.2277_2281dup (p.Thr761fs)	IL6ST (T429fs +6 more)	Duplication (frameshift variant +2 more)	Hyper-IgE recurrent infection syndrome 4A, autosomal dominant	GPathogenic
Select item 1342189	NM_002184.4(IL6ST):c.2277T>G (p.Tyr759Ter)	IL6ST (Y427* +5 more)	Single nucleotide variant (nonsense +2 more)	Hyper-IgE recurrent infection syndrome 4A, autosomal dominant	GPathogenic
Select item 3006919	NM_002184.4(IL6ST):c.2253A>G (p.Gln751=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987045	NM_002184.4(IL6ST):c.2245T>C (p.Ser749Pro)	IL6ST (S679P +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1156517	NM_002184.4(IL6ST):c.2235T>G (p.Asp745Glu)	IL6ST (D413E +6 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder +1 more	GLikely benign
Select item 2721091	NM_002184.4(IL6ST):c.2232T>G (p.Ser744Arg)	IL6ST (S455R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1592688	NM_002184.4(IL6ST):c.2232T>C (p.Ser744=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2252351	NM_002184.4(IL6ST):c.2228G>A (p.Ser743Asn)	IL6ST (S411N +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2814709	NM_002184.4(IL6ST):c.2214G>A (p.Arg738=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2427799	NM_002184.4(IL6ST):c.2210C>T (p.Ser737Phe)	IL6ST (S405F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1929365	NM_002184.4(IL6ST):c.2199C>A (p.Cys733Ter)	IL6ST (C699* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1955516	NM_002184.4(IL6ST):c.2190G>T (p.Gly730=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1979726	NM_002184.4(IL6ST):c.2183T>C (p.Ile728Thr)	IL6ST (I658T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1581439	NM_002184.4(IL6ST):c.2175C>T (p.Ser725=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1561209	NM_002184.4(IL6ST):c.2166A>G (p.Glu722=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1342187	NM_002184.4(IL6ST):c.2155dup (p.Ile719fs)	IL6ST (I387fs +6 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2984304	NM_002184.4(IL6ST):c.2155A>C (p.Ile719Leu)	IL6ST (I418L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2884977	NM_002184.4(IL6ST):c.2147A>C (p.Lys716Thr)	IL6ST (K384T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1113048	NM_002184.4(IL6ST):c.2131T>C (p.Leu711=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2701605	NM_002184.4(IL6ST):c.2130A>G (p.Ser710=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1404918	NM_002184.4(IL6ST):c.2121T>G (p.Asp707Glu)	IL6ST (D673E +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 977744	NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)	IL6ST	Deletion (frameshift variant +2 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 2754973	NM_002184.4(IL6ST):c.2104A>T (p.Lys702Ter)	IL6ST (K370* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2766153	NM_002184.4(IL6ST):c.2092del (p.Ala698fs)	IL6ST (A409fs +6 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2086591	NM_002184.4(IL6ST):c.2080G>A (p.Val694Met)	IL6ST (V633M +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2174609	NM_002184.4(IL6ST):c.2077G>T (p.Val693Phe)	IL6ST (V392F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2254927	NM_002184.4(IL6ST):c.2071G>A (p.Val691Ile)	IL6ST (V657I +6 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder +1 more	GUncertain significance
Select item 2706158	NM_002184.4(IL6ST):c.2069A>G (p.Asp690Gly)	IL6ST (D389G +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1943188	NM_002184.4(IL6ST):c.2062T>G (p.Phe688Val)	IL6ST (F399V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1463885	NM_002184.4(IL6ST):c.2054A>G (p.Asp685Gly)	IL6ST (D353G +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3020576	NM_002184.4(IL6ST):c.2053G>T (p.Asp685Tyr)	IL6ST (D384Y +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2008614	NM_002184.4(IL6ST):c.2046del (p.Met682fs)	IL6ST (M350fs +6 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1441425	NM_002184.4(IL6ST):c.2045T>C (p.Met682Thr)	IL6ST (M381T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance

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