ClinVar for Gene (Select 3665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286539	NM_001572.5(IRF7):c.1396C>G (p.Gln466Glu)	IRF7 (Q479E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286538	NM_001572.5(IRF7):c.355C>T (p.His119Tyr)	IRF7 (H119Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286537	NM_001572.5(IRF7):c.1256C>T (p.Ala419Val)	IRF7 (A432V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286536	NM_001572.5(IRF7):c.338G>A (p.Gly113Glu)	IRF7 (G113E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286535	NM_001572.5(IRF7):c.1095G>C (p.Gln365His)	IRF7 (Q336H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244779	NC_000011.9:g.(?_532636)_(644674_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244678	NC_000011.9:g.(?_612632)_(615161_?)del	IRF7	Deletion	Immunodeficiency 39	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3110879	NM_001572.5(IRF7):c.850C>A (p.Pro284Thr)	IRF7 (P255T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110878	NM_001572.5(IRF7):c.548T>C (p.Leu183Pro)	IRF7 (L183P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110877	NM_001572.5(IRF7):c.21-5C>T	IRF7 (R19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110876	NM_001572.5(IRF7):c.239C>T (p.Pro80Leu)	IRF7 (P80L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3054189	NM_001572.5(IRF7):c.20+7G>A	IRF7	Single nucleotide variant (5 prime UTR variant +1 more)	IRF7-related disorder	GLikely benign
Select item 3054107	NM_001572.5(IRF7):c.539G>T (p.Gly180Val)	IRF7 (G180V +1 more)	Single nucleotide variant (missense variant)	IRF7-related disorder	GUncertain significance
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3022101	NM_001572.5(IRF7):c.394+10G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 3019670	NM_001572.5(IRF7):c.487_488dup (p.Ala164fs)	IRF7 (A177fs +1 more)	Microsatellite (frameshift variant)	Immunodeficiency 39	GUncertain significance
Select item 3019269	NM_001572.5(IRF7):c.863C>T (p.Ala288Val)	IRF7 (A288V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 3019261	NM_001572.5(IRF7):c.394+19C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 3016422	NM_001572.5(IRF7):c.1356+19G>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 3013860	NM_001572.5(IRF7):c.509G>A (p.Gly170Asp)	IRF7 (G183D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 3012485	NM_001572.5(IRF7):c.705G>A (p.Leu235=)	IRF7	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 39	GLikely benign
Select item 3011699	NM_001572.5(IRF7):c.798G>A (p.Gln266=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 3010809	NM_001572.5(IRF7):c.184-4_184-3delinsCT	IRF7	Indel (intron variant)	Immunodeficiency 39	GUncertain significance
Select item 3010688	NM_001572.5(IRF7):c.950C>G (p.Pro317Arg)	IRF7 (P330R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 3009620	NM_001572.5(IRF7):c.267C>T (p.Ala89=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 3009539	NM_001572.5(IRF7):c.1357-15G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 3007400	NM_001572.5(IRF7):c.848-1G>C	IRF7	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 39	GUncertain significance
Select item 3004035	NM_001572.5(IRF7):c.641G>C (p.Gly214Ala)	IRF7 (G214A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 3003740	NM_001572.5(IRF7):c.567G>A (p.Gln189=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 3001840	NM_001572.5(IRF7):c.680-14C>G	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2999920	NM_001572.5(IRF7):c.1210A>G (p.Ile404Val)	IRF7 (I375V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2997394	NM_001572.5(IRF7):c.949C>T (p.Pro317Ser)	IRF7 (P330S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2996968	NM_001572.5(IRF7):c.168C>T (p.Asp56=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2990441	NM_001572.5(IRF7):c.231T>C (p.Gly77=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2986470	NM_001572.5(IRF7):c.699G>A (p.Gly233=)	IRF7	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 39	GLikely benign
Select item 2982902	NM_001572.5(IRF7):c.58G>A (p.Gly20Arg)	IRF7 (G20R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2980086	NM_001572.5(IRF7):c.295C>T (p.Leu99=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GUncertain significance
Select item 2977555	NM_001572.5(IRF7):c.943G>A (p.Gly315Ser)	IRF7 (G286S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2976015	NM_001572.5(IRF7):c.184-8C>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2974994	NM_001572.5(IRF7):c.1032C>A (p.Arg344=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2974537	NM_001572.5(IRF7):c.750C>A (p.Pro250=)	IRF7	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 39	GLikely benign
Select item 2974298	NM_001572.5(IRF7):c.511C>T (p.Pro171Ser)	IRF7 (P171S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2973703	NM_001572.5(IRF7):c.821C>G (p.Ser274Cys)	IRF7 (S274C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2973041	NM_001572.5(IRF7):c.705G>C (p.Leu235=)	IRF7	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 39	GLikely benign
Select item 2972434	NM_001572.5(IRF7):c.461C>T (p.Pro154Leu)	IRF7 (P154L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2970714	NM_001572.5(IRF7):c.679+20G>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2969758	NM_001572.5(IRF7):c.498C>G (p.Leu166=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2969030	NM_001572.5(IRF7):c.792G>A (p.Pro264=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2967084	NM_001572.5(IRF7):c.644A>G (p.Gln215Arg)	IRF7 (Q228R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2965968	NM_001572.5(IRF7):c.725C>T (p.Thr242Met)	IRF7 (T255M +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2962943	NM_001572.5(IRF7):c.51G>T (p.Trp17Cys)	IRF7 (W17C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2961502	NM_001572.5(IRF7):c.559G>C (p.Val187Leu)	IRF7 (V200L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2960439	NM_001572.5(IRF7):c.453+1G>A	IRF7	Single nucleotide variant (splice donor variant)	Immunodeficiency 39	GUncertain significance
Select item 2960286	NM_001572.5(IRF7):c.1285A>G (p.Thr429Ala)	IRF7 (T442A +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2959636	NM_001572.5(IRF7):c.1066G>A (p.Gly356Arg)	IRF7 (G327R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2955905	NM_001572.5(IRF7):c.530G>C (p.Gly177Ala)	IRF7 (G177A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2955070	NM_001572.5(IRF7):c.857C>G (p.Pro286Arg)	IRF7 (P286R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2919483	NM_001572.5(IRF7):c.310C>T (p.Arg104Cys)	IRF7 (R117C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2918757	NM_001572.5(IRF7):c.764C>T (p.Thr255Ile)	IRF7 (T268I +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2917929	NM_001572.5(IRF7):c.1477G>A (p.Glu493Lys)	IRF7 (E506K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2913220	NM_001572.5(IRF7):c.797A>G (p.Gln266Arg)	IRF7 (Q266R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2912902	NM_001572.5(IRF7):c.21-4G>A	IRF7 (R19H)	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2912155	NM_001572.5(IRF7):c.766+6_766+7del	IRF7	Microsatellite (intron variant)	Immunodeficiency 39	GUncertain significance
Select item 2911415	NM_001572.5(IRF7):c.1089G>A (p.Gly363=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2909271	NM_001572.5(IRF7):c.433G>A (p.Ala145Thr)	IRF7 (A145T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2908529	NM_001572.5(IRF7):c.1395G>A (p.Thr465=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2908042	NM_001572.5(IRF7):c.183+14C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2905517	NM_001572.5(IRF7):c.1005C>T (p.Ala335=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2904464	NM_001572.5(IRF7):c.1358T>G (p.Leu453Arg)	IRF7 (L453R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2902678	NM_001572.5(IRF7):c.714G>A (p.Trp238Ter)	IRF7 (W251* +1 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2902199	NM_001572.5(IRF7):c.1030C>T (p.Arg344Cys)	IRF7 (R357C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2901959	NM_001572.5(IRF7):c.848-13G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GUncertain significance
Select item 2900259	NM_001572.5(IRF7):c.828C>G (p.Ser276Arg)	IRF7 (S247R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2893303	NM_001572.5(IRF7):c.1037C>T (p.Thr346Met)	IRF7 (T317M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2892424	NM_001572.5(IRF7):c.227G>A (p.Gly76Glu)	IRF7 (G76E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2892081	NM_001572.5(IRF7):c.159C>A (p.Ser53Arg)	IRF7 (S53R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2892080	NM_001572.5(IRF7):c.165C>A (p.Ala55=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2891780	NM_001572.5(IRF7):c.1063C>G (p.Pro355Ala)	IRF7 (P326A +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2890627	NM_001572.5(IRF7):c.700G>A (p.Glu234Lys)	IRF7 (E234K +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2888197	NM_001572.5(IRF7):c.727A>G (p.Thr243Ala)	IRF7 (T243A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2883764	NM_001572.5(IRF7):c.766+9G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2880433	NM_001572.5(IRF7):c.395-19C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2879500	NM_001572.5(IRF7):c.1207C>T (p.Pro403Ser)	IRF7 (P416S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2876597	NM_001572.5(IRF7):c.766+1G>C	IRF7	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2875444	NM_001572.5(IRF7):c.160G>A (p.Glu54Lys)	IRF7 (E67K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2875375	NM_001572.5(IRF7):c.734G>A (p.Ser245Asn)	IRF7 (S245N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 39	GUncertain significance
Select item 2871710	NM_001572.5(IRF7):c.596C>T (p.Ala199Val)	IRF7 (A199V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2869752	NM_001572.5(IRF7):c.273G>A (p.Trp91Ter)	IRF7 (W104* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 39	GUncertain significance
Select item 2868893	NM_001572.5(IRF7):c.859G>A (p.Gly287Arg)	IRF7 (G300R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2868577	NM_001572.5(IRF7):c.323T>G (p.Leu108Arg)	IRF7 (L121R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2867825	NM_001572.5(IRF7):c.864_865dup (p.Leu289fs)	IRF7 (L302fs +2 more)	Microsatellite (frameshift variant)	Immunodeficiency 39	GUncertain significance
Select item 2864736	NM_001572.5(IRF7):c.1279C>T (p.Arg427Cys)	IRF7 (R440C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2859079	NM_001572.5(IRF7):c.847+10T>G	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2854395	NM_001572.5(IRF7):c.540G>A (p.Gly180=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2852511	NM_001572.5(IRF7):c.45A>G (p.Gly15=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2851755	NM_001572.5(IRF7):c.880A>G (p.Met294Val)	IRF7 (M294V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance

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