ClinVar for Gene (Select 3572) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354217	NM_002184.4(IL6ST):c.491+1G>A	IL6ST	Single nucleotide variant (splice donor variant +1 more)	IL6ST-related disorder	GLikely pathogenic
Select item 3352520	NM_002184.4(IL6ST):c.1841-7_1841-4dup	IL6ST	Duplication (intron variant)	IL6ST-related disorder	GLikely benign
Select item 3346139	NM_002184.4(IL6ST):c.2678T>C (p.Met893Thr)	IL6ST (M561T +6 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder	GUncertain significance
Select item 3285907	NM_002184.4(IL6ST):c.2093C>A (p.Ala698Glu)	IL6ST (A397E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285906	NM_002184.4(IL6ST):c.1511C>T (p.Pro504Leu)	IL6ST (P504L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3237501	NM_002184.4(IL6ST):c.1824dup (p.Thr609fs)	IL6ST (T277fs +6 more)	Duplication (frameshift variant +2 more)	Hyper-IgE recurrent infection syndrome 4A, autosomal dominant	GUncertain significance
Select item 3235008	NM_002184.4(IL6ST):c.769T>C (p.Tyr257His)	IL6ST (Y187H +1 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 94 with autoinflammation and dysmorphic facies	GUncertain significance
Select item 3109464	NM_002184.4(IL6ST):c.1799G>T (p.Gly600Val)	IL6ST (G530V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 3042210	NM_002184.4(IL6ST):c.1841-6_1841-4dup	IL6ST	Duplication (intron variant)	IL6ST-related disorder	GLikely benign
Select item 3042113	NM_002184.4(IL6ST):c.1841-5_1841-4dup	IL6ST	Duplication (intron variant)	IL6ST-related disorder	GLikely benign
Select item 3032318	NM_002184.4(IL6ST):c.736A>G (p.Asn246Asp)	IL6ST (N176D +1 more)	Single nucleotide variant (missense variant +2 more)	IL6ST-related disorder	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 3016689	NM_002184.4(IL6ST):c.2316G>C (p.Pro772=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3013229	NM_002184.4(IL6ST):c.1224A>G (p.Lys408=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3013159	NM_002184.4(IL6ST):c.1718C>T (p.Ser573Phe)	IL6ST (S241F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 3011089	NM_002184.4(IL6ST):c.60T>C (p.Ser20=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007306	NM_002184.4(IL6ST):c.548C>G (p.Thr183Ser)	IL6ST (T183S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 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 2996247	NM_002184.4(IL6ST):c.1208G>A (p.Arg403Lys)	IL6ST (R333K +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2995762	NM_002184.4(IL6ST):c.1485A>G (p.Thr495=)	IL6ST	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2995466	NM_002184.4(IL6ST):c.2458A>G (p.Ser820Gly)	IL6ST (S519G +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2992528	NM_002184.4(IL6ST):c.1217T>C (p.Val406Ala)	IL6ST (V406A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2990671	NM_002184.4(IL6ST):c.132C>G (p.Phe44Leu)	IL6ST (F44L)	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 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 2986611	NM_002184.4(IL6ST):c.211C>T (p.His71Tyr)	IL6ST (H71Y)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2986533	NM_002184.4(IL6ST):c.212A>G (p.His71Arg)	IL6ST (H71R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2985500	NM_002184.4(IL6ST):c.1036A>G (p.Thr346Ala)	IL6ST (T346A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2985433	NM_002184.4(IL6ST):c.93C>G (p.Ile31Met)	IL6ST (I31M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2984864	NM_002184.4(IL6ST):c.220A>G (p.Ile74Val)	IL6ST (I74V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 2980648	NM_002184.4(IL6ST):c.814-12G>A	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976617	NM_002184.4(IL6ST):c.771T>C (p.Tyr257=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2975952	NM_002184.4(IL6ST):c.671C>T (p.Pro224Leu)	IL6ST (P154L +1 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 (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 2970121	NM_002184.4(IL6ST):c.2315C>T (p.Pro772Leu)	IL6ST (P471L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2969648	NM_002184.4(IL6ST):c.1108C>G (p.Leu370Val)	IL6ST (L38V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2966873	NM_002184.4(IL6ST):c.899G>A (p.Arg300His)	IL6ST (R300H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2964090	NM_002184.4(IL6ST):c.65-15A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963286	NM_002184.4(IL6ST):c.2020-12dup	IL6ST	Duplication (intron variant)	not provided	GBenign
Select item 2957469	NM_002184.4(IL6ST):c.806G>T (p.Trp269Leu)	IL6ST (W269L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2956531	NM_002184.4(IL6ST):c.232C>G (p.Gln78Glu)	IL6ST (Q78E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2955724	NM_002184.4(IL6ST):c.813+18G>A	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2906760	NM_002184.4(IL6ST):c.1094A>C (p.Asp365Ala)	IL6ST (D295A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2896104	NM_002184.4(IL6ST):c.1065T>A (p.Pro355=)	IL6ST (S328T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2894640	NM_002184.4(IL6ST):c.1079A>G (p.Asn360Ser)	IL6ST (N71S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2894102	NM_002184.4(IL6ST):c.668A>G (p.Asn223Ser)	IL6ST (N153S +1 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 2883671	NM_002184.4(IL6ST):c.87T>G (p.Gly29=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2880625	NM_002184.4(IL6ST):c.1213C>G (p.Leu405Val)	IL6ST (L405V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2877978	NM_002184.4(IL6ST):c.1587A>G (p.Lys529=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2876417	NM_002184.4(IL6ST):c.411C>T (p.Asn137=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2874969	NM_002184.4(IL6ST):c.1699+7A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873838	NM_002184.4(IL6ST):c.983A>C (p.Lys328Thr)	IL6ST (K328T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2872819	NM_002184.4(IL6ST):c.2019+3A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872760	NM_002184.4(IL6ST):c.1989T>C (p.Ile663=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2868310	NM_002184.4(IL6ST):c.1252G>T (p.Ala418Ser)	IL6ST (A348S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2862331	NM_002184.4(IL6ST):c.495A>G (p.Ala165=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2858365	NM_002184.4(IL6ST):c.1110C>T (p.Leu370=)	IL6ST	Single nucleotide variant (synonymous 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 2855670	NM_002184.4(IL6ST):c.1521T>G (p.Pro507=)	IL6ST	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2855385	NM_002184.4(IL6ST):c.492-14T>C	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852959	NM_002184.4(IL6ST):c.1840+14A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847198	NM_002184.4(IL6ST):c.371-16A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846603	NM_002184.4(IL6ST):c.1938-3C>T	IL6ST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2846371	NM_002184.4(IL6ST):c.1267+9C>A	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846340	NM_002184.4(IL6ST):c.340A>C (p.Asn114His)	IL6ST (N114H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2845840	NM_002184.4(IL6ST):c.1570A>G (p.Thr524Ala)	IL6ST (T235A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2844471	NM_002184.4(IL6ST):c.1938-6C>T	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840559	NM_002184.4(IL6ST):c.1785C>T (p.Tyr595=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2840250	NM_002184.4(IL6ST):c.215T>C (p.Phe72Ser)	IL6ST (F72S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2835437	NM_002184.4(IL6ST):c.1136A>G (p.Asn379Ser)	IL6ST (N379S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2832140	NM_002184.4(IL6ST):c.65G>A (p.Gly22Asp)	IL6ST (G22D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2827785	NM_002184.4(IL6ST):c.1451-12T>C	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824839	NM_002184.4(IL6ST):c.1586A>C (p.Lys529Thr)	IL6ST (K228T +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 2822593	NM_002184.4(IL6ST):c.89A>G (p.Tyr30Cys)	IL6ST (Y30C)	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 2819035	NM_002184.4(IL6ST):c.344T>C (p.Val115Ala)	IL6ST (V115A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2818054	NM_002184.4(IL6ST):c.1048G>C (p.Val350Leu)	IL6ST (V49L +3 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 2814709	NM_002184.4(IL6ST):c.2214G>A (p.Arg738=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2814457	NM_002184.4(IL6ST):c.1078A>C (p.Asn360His)	IL6ST (N59H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2813799	NM_002184.4(IL6ST):c.1937+12T>C	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813778	NM_002184.4(IL6ST):c.817C>G (p.Pro273Ala)	IL6ST (P203A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2811748	NM_002184.4(IL6ST):c.492-6A>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811437	NM_002184.4(IL6ST):c.50C>T (p.Thr17Ile)	IL6ST (T17I)	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 2804493	NM_002184.4(IL6ST):c.1841-11T>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803373	NM_002184.4(IL6ST):c.2020-9C>G	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799291	NM_002184.4(IL6ST):c.973+13G>A	IL6ST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795934	NM_002184.4(IL6ST):c.439G>A (p.Asp147Asn)	IL6ST (D147N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2795558	NM_002184.4(IL6ST):c.75A>G (p.Leu25=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2794210	NM_002184.4(IL6ST):c.903T>C (p.Cys301=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2792016	NM_002184.4(IL6ST):c.2382A>G (p.Glu794=)	IL6ST	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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