IRF3[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 2282851	NM_001571.6(IRF3):c.*36G>A	IRF3 (V446I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570271	NM_001571.6(IRF3):c.*30C>G	IRF3 (P444A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2688047	NM_001571.6(IRF3):c.1280G>C (p.Ser427Thr)	IRF3 (E432D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2285393	NM_001571.6(IRF3):c.1276G>A (p.Glu426Lys)	IRF3 (E280K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047399	NM_001571.6(IRF3):c.1215C>T (p.Ser405=)	IRF3 (R411*)	Single nucleotide variant (nonsense +2 more)	IRF3-related disorder	GLikely benign
Select item 3039781	NM_001571.6(IRF3):c.1209C>T (p.Leu403=)	IRF3 (H409Y)	Single nucleotide variant (missense variant +2 more)	IRF3-related disorder	GBenign
Select item 2294670	NM_001571.6(IRF3):c.1201C>G (p.Leu401Val)	IRF3 (L255V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606240	NM_001571.6(IRF3):c.1181A>G (p.His394Arg)	IRF3 (H359R +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2508210	NM_001571.6(IRF3):c.1145G>A (p.Gly382Glu)	IRF3 (G109E +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3286526	NM_001571.6(IRF3):c.1139G>A (p.Arg380Gln)	IRF3 (R234Q +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3110863	NM_001571.6(IRF3):c.1137C>G (p.Ala379=)	IRF3 (P385A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306374	NM_001571.6(IRF3):c.1087G>T (p.Val363Leu)	IRF3 (V236L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1321335	NM_001571.6(IRF3):c.1070C>T (p.Pro357Leu)	IRF3 (P211L +4 more)	Single nucleotide variant (synonymous variant +2 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 2635082	NM_001571.6(IRF3):c.1066C>T (p.Gln356Ter)	IRF3 (P361L +5 more)	Single nucleotide variant (missense variant +2 more)	IRF3-related disorder	GUncertain significance
Select item 2537180	NM_001571.6(IRF3):c.1063G>A (p.Asp355Asn)	IRF3 (D320N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110862	NM_001571.6(IRF3):c.1016C>T (p.Ser339Leu)	IRF3 (S212L +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2577356	NM_001571.6(IRF3):c.1004G>A (p.Gly335Glu)	IRF3 (G189E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286525	NM_001571.6(IRF3):c.999G>A (p.Thr333=)	IRF3 (G339R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3110866	NM_001571.6(IRF3):c.971C>T (p.Pro324Leu)	IRF3 (P178L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312540	NM_001571.6(IRF3):c.965T>C (p.Leu322Pro)	IRF3 (L176P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337678	NM_001571.6(IRF3):c.963C>G (p.Asp321Glu)	IRF3 (D321E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286528	NM_001571.6(IRF3):c.955G>A (p.Val319Met)	IRF3 (V284M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531200	NM_001571.6(IRF3):c.945G>C (p.Lys315Asn)	IRF3 (K280N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550826	NM_001571.6(IRF3):c.915T>G (p.His305Gln)	IRF3 (H159Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3040695	NM_001571.6(IRF3):c.885G>A (p.Val295=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	IRF3-related disorder	GLikely benign
Select item 3286530	NM_001571.6(IRF3):c.872C>T (p.Thr291Ile)	IRF3 (T256I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 208454	NM_001571.6(IRF3):c.854G>A (p.Arg285Gln)	IRF3 (R285Q +2 more)	Single nucleotide variant (missense variant +2 more)	IRF3-related disorder +1 more	GUncertain significance; risk factor
Select item 3042156	NM_001571.6(IRF3):c.834G>A (p.Gly278=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	IRF3-related disorder	GLikely benign
Select item 495307	NM_001571.6(IRF3):c.829G>A (p.Ala277Thr)	IRF3 (A277T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3036722	NM_001571.6(IRF3):c.827G>A (p.Arg276Gln)	IRF3 (R130Q +2 more)	Single nucleotide variant (missense variant +2 more)	IRF3-related disorder	GLikely benign
Select item 2215245	NM_001571.6(IRF3):c.781G>A (p.Val261Met)	IRF3 (V115M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557930	NM_001571.6(IRF3):c.708G>C (p.Arg236Ser)	IRF3 (R201S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519944	NM_001571.6(IRF3):c.694G>A (p.Glu232Lys)	IRF3 (E232K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650281	NM_001571.6(IRF3):c.693C>T (p.Ser231=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3051575	NM_001571.6(IRF3):c.669G>A (p.Pro223=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	IRF3-related disorder	GLikely benign
Select item 3110865	NM_001571.6(IRF3):c.668C>T (p.Pro223Leu)	IRF3 (P223L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251993	NM_001571.6(IRF3):c.659T>C (p.Ile220Thr)	IRF3 (I220T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361025	NM_001571.6(IRF3):c.637C>T (p.Arg213Cys)	IRF3 (R213C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286527	NM_001571.6(IRF3):c.596G>C (p.Gly199Ala)	IRF3 (G199A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379452	NM_001571.6(IRF3):c.593C>T (p.Pro198Leu)	IRF3 (P163L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235015	NM_001571.6(IRF3):c.565G>A (p.Glu189Lys)	IRF3 (E154K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477978	NM_001571.6(IRF3):c.542C>T (p.Pro181Leu)	IRF3 (P181L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286529	NM_001571.6(IRF3):c.533A>G (p.Asn178Ser)	IRF3 (N178S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3034486	NM_001571.6(IRF3):c.523A>G (p.Ser175Gly)	IRF3 (S140G +2 more)	Single nucleotide variant (missense variant +1 more)	IRF3-related disorder	GBenign
Select item 2606241	NM_001571.6(IRF3):c.487G>T (p.Ala163Ser)	IRF3 (A163S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322703	NM_001571.6(IRF3):c.457C>G (p.Pro153Ala)	IRF3 (P118A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275474	NM_001571.6(IRF3):c.451C>T (p.Pro151Ser)	IRF3 (P151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2576018	NM_001571.6(IRF3):c.438C>G (p.Asn146Lys)	IRF3 (N111K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 781472	NM_001571.6(IRF3):c.432G>C (p.Leu144=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 +1 more	GBenign/Likely benign
Select item 2327291	NM_001571.6(IRF3):c.395C>G (p.Thr132Ser)	IRF3 (T132S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3055849	NM_001571.6(IRF3):c.380A>G (p.Asn127Ser)	IRF3 (N127S +1 more)	Single nucleotide variant (missense variant +2 more)	IRF3-related disorder	GLikely benign
Select item 2650282	NM_001571.6(IRF3):c.345G>C (p.Gly115=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2602270	NM_001571.6(IRF3):c.316A>G (p.Ile106Val)	IRF3 (I106V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2397052	NM_001571.6(IRF3):c.304G>A (p.Asp102Asn)	IRF3 (D102N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2251100	NM_001571.6(IRF3):c.291C>G (p.Ser97Arg)	IRF3 (S97R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 778853	NM_001571.6(IRF3):c.287G>A (p.Arg96Gln)	IRF3 (R61Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1878248	NM_001571.6(IRF3):c.286C>T (p.Arg96Trp)	IRF3 (R96W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2688252	NM_001571.6(IRF3):c.166-24A>G	IRF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2551495	NM_001571.6(IRF3):c.133G>A (p.Asp45Asn)	IRF3 (D45N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2637774	NM_001571.6(IRF3):c.84C>G (p.Asn28Lys)	IRF3 (N28K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3339668	NM_001571.6(IRF3):c.21G>T (p.Arg7=)	IRF3	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1220535	GRCh37/hg19 19q13.33(chr19:50071364-50165942)x1	IRF3, NOSIP +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 76