ClinVar for Gene (Select 126862065) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	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 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 2165087	NM_145725.3(TRAF3):c.651+18C>T	TRAF3, LOC126862065	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2149546	NM_145725.3(TRAF3):c.598G>A (p.Val200Met)	LOC126862065, TRAF3 (V200M)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2123372	NM_145725.3(TRAF3):c.584C>T (p.Thr195Ile)	LOC126862065, TRAF3 (T195I)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2105439	NM_145725.3(TRAF3):c.649G>C (p.Glu217Gln)	LOC126862065, TRAF3 (E217Q)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2002835	NM_145725.3(TRAF3):c.574C>T (p.His192Tyr)	LOC126862065, TRAF3 (H192Y)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1989690	NM_145725.3(TRAF3):c.604G>T (p.Val202Leu)	LOC126862065, TRAF3 (V202L)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1981462	NM_145725.3(TRAF3):c.637C>G (p.Leu213Val)	LOC126862065, TRAF3 (L213V)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1913755	NM_145725.3(TRAF3):c.598G>T (p.Val200Leu)	LOC126862065, TRAF3 (V200L)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1904697	NM_145725.3(TRAF3):c.651+12C>T	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1663167	NM_145725.3(TRAF3):c.651+13G>A	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1620062	NM_145725.3(TRAF3):c.612C>T (p.Cys204=)	LOC126862065, TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1596789	NM_145725.3(TRAF3):c.585C>T (p.Thr195=)	LOC126862065, TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1496483	NM_145725.3(TRAF3):c.649G>A (p.Glu217Lys)	LOC126862065, TRAF3 (E217K)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1377442	NM_145725.3(TRAF3):c.626G>A (p.Ser209Asn)	LOC126862065, TRAF3 (S209N)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 1374326	NM_145725.3(TRAF3):c.635C>T (p.Thr212Ile)	LOC126862065, TRAF3 (T212I)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1361475	NM_145725.3(TRAF3):c.651+15G>T	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1346809	NM_145725.3(TRAF3):c.604G>C (p.Val202Leu)	LOC126862065, TRAF3 (V202L)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1167475	NM_145725.3(TRAF3):c.576C>T (p.His192=)	LOC126862065, TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GBenign
Select item 1144891	NM_145725.3(TRAF3):c.621G>A (p.Lys207=)	LOC126862065, TRAF3	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1036198	NM_145725.3(TRAF3):c.577G>A (p.Glu193Lys)	LOC126862065, TRAF3 (E193K)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 862976	NM_145725.3(TRAF3):c.596G>T (p.Cys199Phe)	LOC126862065, TRAF3 (C199F)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 745347	NM_145725.3(TRAF3):c.651+8C>T	LOC126862065, TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 540505	NC_000014.8:g.(?_103336519)_(103397037_?)dup	AMN, LOC126862065 +6 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 532214	NC_000014.9:g.(?_102870182)_(102930700_?)del	LOC130056553, LOC130056554 +6 more	Deletion	Imerslund-Grasbeck syndrome	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	PPP2R5C, RCOR1 +571 more	Copy number loss	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	C14orf180, CDC42BPB +367 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	IGHV3-38, IGHV3-43 +397 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LOC130056610, LOC130056611 +416 more	Copy number loss	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	LOC126862061, LOC126862062 +530 more	Copy number gain	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	ADSS1, AHNAK2 +561 more	Copy number loss	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 58