ClinVar for Gene (Select 7187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181766	NM_145725.3(TRAF3):c.1406C>T (p.Thr469Met)	TRAF3 (T422M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181765	NM_145725.3(TRAF3):c.1126C>G (p.Arg376Gly)	TRAF3 (R351G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063334	GRCh37/hg19 14q32.32(chr14:103237507-103377574)x1	TRAF3	Copy number loss	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3019897	NM_145725.3(TRAF3):c.840A>G (p.Glu280=)	TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3018133	NM_145725.3(TRAF3):c.7T>C (p.Ser3Pro)	TRAF3 (S3P)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3016969	NM_145725.3(TRAF3):c.345C>A (p.Ile115=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3016894	NM_145725.3(TRAF3):c.1135+17G>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3016347	NM_145725.3(TRAF3):c.138C>A (p.Thr46=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3015975	NM_145725.3(TRAF3):c.297+19dup	TRAF3	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GBenign
Select item 3013123	NM_145725.3(TRAF3):c.50C>T (p.Pro17Leu)	TRAF3 (P17L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3011676	NM_145725.3(TRAF3):c.810C>G (p.Leu270=)	TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3009972	NM_145725.3(TRAF3):c.571-5T>C	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3006613	NM_145725.3(TRAF3):c.353G>A (p.Arg118Gln)	TRAF3 (R118Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3002035	NM_145725.3(TRAF3):c.402+17C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2995621	NM_145725.3(TRAF3):c.561C>T (p.Ile187=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2990860	NM_145725.3(TRAF3):c.245+17G>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2984647	NM_145725.3(TRAF3):c.439C>A (p.Pro147Thr)	TRAF3 (P147T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2984032	NM_145725.3(TRAF3):c.1161G>T (p.Arg387=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2982055	NM_145725.3(TRAF3):c.245+17G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2974457	NM_145725.3(TRAF3):c.651+16C>G	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2973055	NM_145725.3(TRAF3):c.28C>T (p.Pro10Ser)	TRAF3 (P10S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2971645	NM_145725.3(TRAF3):c.819+16T>C	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2963355	NM_145725.3(TRAF3):c.824C>T (p.Ser275Phe)	TRAF3 (S192F +3 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2957783	NM_145725.3(TRAF3):c.90A>G (p.Pro30=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2918565	NM_145725.3(TRAF3):c.618C>T (p.His206=)	LOC126862065, TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2917738	NM_145725.3(TRAF3):c.651+9G>A	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2917288	NM_145725.3(TRAF3):c.402+20dup	TRAF3	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2912816	NM_145725.3(TRAF3):c.245+14C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2911525	NM_145725.3(TRAF3):c.1314G>A (p.Leu438=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2911322	NM_145725.3(TRAF3):c.253A>G (p.Ser85Gly)	TRAF3 (S85G)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2906185	NM_145725.3(TRAF3):c.416A>G (p.Asn139Ser)	TRAF3 (N139S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2904713	NM_145725.3(TRAF3):c.402+20T>C	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2902037	NM_145725.3(TRAF3):c.1135+4_1135+9dup	TRAF3	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2900206	NM_145725.3(TRAF3):c.554C>T (p.Pro185Leu)	TRAF3 (P185L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2897380	NM_145725.3(TRAF3):c.111A>G (p.Gly37=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2888041	NM_145725.3(TRAF3):c.825C>T (p.Ser275=)	TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2887496	NM_145725.3(TRAF3):c.1136-4G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2883853	NM_145725.3(TRAF3):c.628G>T (p.Val210Phe)	LOC126862065, TRAF3 (V210F)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2880102	NM_145725.3(TRAF3):c.1100T>A (p.Val367Glu)	TRAF3 (V284E +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2878599	NM_145725.3(TRAF3):c.67A>G (p.Thr23Ala)	TRAF3 (T23A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2875362	NM_145725.3(TRAF3):c.1551C>T (p.Asn517=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2874801	NM_145725.3(TRAF3):c.779T>C (p.Val260Ala)	TRAF3 (V233A +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2860413	NM_145725.3(TRAF3):c.87G>A (p.Thr29=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2838390	NM_145725.3(TRAF3):c.638_639del (p.Leu213fs)	LOC126862065, TRAF3 (L213fs)	Microsatellite (frameshift variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2832830	NM_145725.3(TRAF3):c.868A>G (p.Ser290Gly)	TRAF3 (S263G +3 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2832632	NM_145725.3(TRAF3):c.1377C>T (p.Tyr459=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2832333	NM_145725.3(TRAF3):c.1398G>T (p.Gly466=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2827873	NM_145725.3(TRAF3):c.300G>A (p.Val100=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2819044	NM_145725.3(TRAF3):c.403G>A (p.Val135Met)	TRAF3 (V135M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2813141	NM_145725.3(TRAF3):c.961-12T>G	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2785424	NM_145725.3(TRAF3):c.570+31_570+66del	TRAF3	Deletion (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2781651	NM_145725.3(TRAF3):c.25T>A (p.Ser9Thr)	TRAF3 (S9T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2779852	NM_145725.3(TRAF3):c.402+17C>G	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2779236	NM_145725.3(TRAF3):c.507G>T (p.Ala169=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2768017	NM_145725.3(TRAF3):c.1467G>A (p.Pro489=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2763917	NM_145725.3(TRAF3):c.1268G>A (p.Arg423His)	TRAF3 (R423H +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2761620	NM_145725.3(TRAF3):c.957A>G (p.Leu319=)	TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2759988	NM_145725.3(TRAF3):c.1133C>G (p.Thr378Arg)	TRAF3 (T295R +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2754102	NM_145725.3(TRAF3):c.1033G>T (p.Glu345Ter)	TRAF3 (E262* +4 more)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2740558	NM_145725.3(TRAF3):c.567G>C (p.Leu189=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2732403	NM_145725.3(TRAF3):c.1575T>C (p.Thr525=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2732033	NM_145725.3(TRAF3):c.766G>A (p.Ala256Thr)	TRAF3 (A229T +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2726629	NM_145725.3(TRAF3):c.651+19G>T	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2725902	NM_145725.3(TRAF3):c.1297G>A (p.Val433Ile)	TRAF3 (V350I +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2725897	NM_145725.3(TRAF3):c.570+5G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2718330	NM_145725.3(TRAF3):c.347A>G (p.Tyr116Cys)	TRAF3 (Y116C)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2717637	NM_145725.3(TRAF3):c.391G>C (p.Gly131Arg)	TRAF3 (G131R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2706879	NM_145725.3(TRAF3):c.1150C>T (p.Gln384Ter)	TRAF3 (Q337* +4 more)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2706876	NM_145725.3(TRAF3):c.819+16dup	TRAF3	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2700414	NM_145725.3(TRAF3):c.500A>C (p.Glu167Ala)	TRAF3 (E167A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2698573	NM_145725.3(TRAF3):c.1612G>T (p.Val538Leu)	TRAF3 (V455L +4 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2696083	NM_145725.3(TRAF3):c.507G>A (p.Ala169=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2690261	NM_145725.3(TRAF3):c.628G>A (p.Val210Ile)	LOC126862065, TRAF3 (V210I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688346	NM_145725.3(TRAF3):c.651+77C>T	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688345	NM_145725.3(TRAF3):c.245+21C>T	TRAF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688014	NM_145725.3(TRAF3):c.727-59G>T	TRAF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2635307	NM_145725.3(TRAF3):c.481G>T (p.Asp161Tyr)	TRAF3 (D161Y)	Single nucleotide variant (missense variant)	TRAF3-related condition	GUncertain significance
Select item 2608153	NM_145725.3(TRAF3):c.126G>C (p.Lys42Asn)	TRAF3 (K42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595924	NM_145725.3(TRAF3):c.76A>C (p.Ser26Arg)	TRAF3 (S26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2541032	NM_145725.3(TRAF3):c.1544A>G (p.Asp515Gly)	TRAF3 (D432G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477223	NM_145725.3(TRAF3):c.862A>G (p.Ile288Val)	TRAF3 (I205V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445226	NM_145725.3(TRAF3):c.1458del (p.Pro487fs)	TRAF3 (P404fs +4 more)	Deletion (frameshift variant)	TRAF3 haploinsufficiency	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2419605	NM_145725.3(TRAF3):c.491A>G (p.Asp164Gly)	TRAF3 (D164G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416215	NM_145725.3(TRAF3):c.124A>G (p.Lys42Glu)	TRAF3 (K42E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2416188	NM_145725.3(TRAF3):c.1086C>T (p.Thr362=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2404508	NM_145725.3(TRAF3):c.535C>T (p.His179Tyr)	TRAF3 (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334958	NM_145725.3(TRAF3):c.778G>A (p.Val260Ile)	TRAF3 (V233I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330563	NM_145725.3(TRAF3):c.761G>A (p.Ser254Asn)	TRAF3 (S229N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269709	NM_145725.3(TRAF3):c.1282C>T (p.Arg428Trp)	TRAF3 (R403W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201068	NM_145725.3(TRAF3):c.651+13G>C	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2197071	NM_145725.3(TRAF3):c.79G>C (p.Ala27Pro)	TRAF3 (A27P)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance

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