ClinVar for Gene (Select 7098) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 570

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326408	NM_003265.3(TLR3):c.628A>G (p.Lys210Glu)	TLR3 (K210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326407	NM_003265.3(TLR3):c.233C>A (p.Thr78Asn)	TLR3 (T78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326406	NM_003265.3(TLR3):c.2668C>T (p.Arg890Cys)	TLR3 (R890C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326404	NM_003265.3(TLR3):c.1177T>A (p.Leu393Met)	TLR3 (L393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3246669	NC_000004.11:g.(?_186997774)_(187000205_?)dup	TLR3	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3246668	NC_000004.11:g.(?_186997774)_(187006027_?)dup	TLR3	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3242191	NM_003265.3(TLR3):c.2077dup (p.Thr693fs)	TLR3 (T693fs)	Duplication (frameshift variant)	Immunodeficiency 83, susceptibility to viral infections	GUncertain significance
Select item 3178016	NM_003265.3(TLR3):c.1942G>C (p.Asp648His)	TLR3 (D648H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178015	NM_003265.3(TLR3):c.1835T>C (p.Leu612Pro)	TLR3 (L612P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178014	NM_003265.3(TLR3):c.1016C>G (p.Ser339Cys)	TLR3 (S339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	F11, FAM149A +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 3022103	NM_003265.3(TLR3):c.2486+14G>A	TLR3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3018460	NM_003265.3(TLR3):c.2517T>G (p.Ala839=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3017098	NM_003265.3(TLR3):c.2204A>G (p.Asn735Ser)	TLR3 (N735S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3012030	NM_003265.3(TLR3):c.89T>G (p.Val30Gly)	TLR3 (V30G)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3011399	NM_003265.3(TLR3):c.1830G>A (p.Val610=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3008763	NM_003265.3(TLR3):c.2661T>A (p.Gly887=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3007832	NM_003265.3(TLR3):c.395C>G (p.Ser132Cys)	TLR3 (S132C)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3004102	NM_003265.3(TLR3):c.2180G>C (p.Gly727Ala)	TLR3 (G727A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3003500	NM_003265.3(TLR3):c.1261A>G (p.Lys421Glu)	TLR3 (K421E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2999970	NM_003265.3(TLR3):c.2340A>C (p.Glu780Asp)	TLR3 (E780D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2988880	NM_003265.3(TLR3):c.1A>G (p.Met1Val)	TLR3 (M1V)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2979005	NM_003265.3(TLR3):c.460C>T (p.Leu154=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2976888	NM_003265.3(TLR3):c.1915G>A (p.Glu639Lys)	TLR3 (E639K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2972920	NM_003265.3(TLR3):c.61T>C (p.Cys21Arg)	TLR3 (C21R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2971726	NM_003265.3(TLR3):c.1318C>T (p.Leu440Phe)	TLR3 (L440F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2970307	NM_003265.3(TLR3):c.2110C>T (p.Leu704Phe)	TLR3 (L704F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2956215	NM_003265.3(TLR3):c.789C>G (p.Thr263=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2955522	NM_003265.3(TLR3):c.847T>C (p.Tyr283His)	TLR3 (Y283H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2920271	NM_003265.3(TLR3):c.522A>C (p.Gln174His)	TLR3 (Q174H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2919490	NM_003265.3(TLR3):c.2498A>T (p.His833Leu)	TLR3 (H833L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2919372	NM_003265.3(TLR3):c.1119T>C (p.Asn373=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2914462	NM_003265.3(TLR3):c.32G>T (p.Trp11Leu)	TLR3 (W11L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2907203	NM_003265.3(TLR3):c.2257C>A (p.Gln753Lys)	TLR3 (Q753K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2907067	NM_003265.3(TLR3):c.632A>T (p.Glu211Val)	TLR3 (E211V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2904508	NM_003265.3(TLR3):c.1923T>C (p.Asp641=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2903745	NM_003265.3(TLR3):c.2268T>C (p.Tyr756=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2877298	NM_003265.3(TLR3):c.1159T>A (p.Ser387Thr)	TLR3 (S387T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2874143	NM_003265.3(TLR3):c.421A>G (p.Asn141Asp)	TLR3 (N141D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2866310	NM_003265.3(TLR3):c.1044T>C (p.Asp348=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2860368	NM_003265.3(TLR3):c.1336G>A (p.Glu446Lys)	TLR3 (E446K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2857280	NM_003265.3(TLR3):c.2669G>A (p.Arg890His)	TLR3 (R890H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2847858	NM_003265.3(TLR3):c.1239C>A (p.Asn413Lys)	TLR3 (N413K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2844111	NM_003265.3(TLR3):c.2184G>A (p.Trp728Ter)	TLR3 (W728*)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2836411	NM_003265.3(TLR3):c.1555G>A (p.Ala519Thr)	TLR3 (A519T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2836362	NM_003265.3(TLR3):c.674G>A (p.Gly225Asp)	TLR3 (G225D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2833231	NM_003265.3(TLR3):c.753G>C (p.Arg251=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2831141	NM_003265.3(TLR3):c.1980G>A (p.Trp660Ter)	TLR3 (W660*)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2829234	NM_003265.3(TLR3):c.1991C>A (p.Thr664Asn)	TLR3 (T664N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2826066	NM_003265.3(TLR3):c.898C>G (p.Leu300Val)	TLR3 (L300V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2812640	NM_003265.3(TLR3):c.180T>A (p.His60Gln)	TLR3 (H60Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2809217	NM_003265.3(TLR3):c.959G>A (p.Gly320Glu)	TLR3 (G320E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2804717	NM_003265.3(TLR3):c.1929C>T (p.Arg643=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2802535	NM_003265.3(TLR3):c.441G>A (p.Lys147=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2797474	NM_003265.3(TLR3):c.2348C>T (p.Ser783Phe)	TLR3 (S783F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2792950	NM_003265.3(TLR3):c.442-7C>G	TLR3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2782288	NM_003265.3(TLR3):c.563G>A (p.Ser188Asn)	TLR3 (S188N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2780519	NM_003265.3(TLR3):c.1271G>A (p.Ser424Asn)	TLR3 (S424N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2779763	NM_003265.3(TLR3):c.528T>G (p.Leu176=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2771587	NM_003265.3(TLR3):c.1637G>A (p.Trp546Ter)	TLR3 (W546*)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2771323	NM_003265.3(TLR3):c.2608A>T (p.Met870Leu)	TLR3 (M870L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2768515	NM_003265.3(TLR3):c.1061T>G (p.Leu354Arg)	TLR3 (L354R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2768451	NM_003265.3(TLR3):c.1141dup (p.Leu381fs)	TLR3 (L381fs)	Duplication (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2764696	NM_003265.3(TLR3):c.1551C>T (p.Asn517=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2763014	NM_003265.3(TLR3):c.2703C>G (p.Asn901Lys)	TLR3 (N901K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2759215	NM_003265.3(TLR3):c.894A>T (p.Pro298=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2751977	NM_003265.3(TLR3):c.441+1G>T	TLR3	Single nucleotide variant (splice donor variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2748443	NM_003265.3(TLR3):c.243T>C (p.Asp81=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2747264	NM_003265.3(TLR3):c.526C>T (p.Leu176Phe)	TLR3 (L176F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2742097	NM_003265.3(TLR3):c.1805C>T (p.Pro602Leu)	TLR3 (P602L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2741657	NM_003265.3(TLR3):c.1461C>T (p.Leu487=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2741276	NM_003265.3(TLR3):c.2409T>C (p.Ile803=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2738039	NM_003265.3(TLR3):c.1149C>T (p.Tyr383=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2736360	NM_003265.3(TLR3):c.813A>G (p.Leu271=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2735935	NM_003265.3(TLR3):c.1732C>T (p.Pro578Ser)	TLR3 (P578S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2731501	NM_003265.3(TLR3):c.1172C>T (p.Thr391Ile)	TLR3 (T391I)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2728326	NM_003265.3(TLR3):c.2092G>A (p.Asp698Asn)	TLR3 (D698N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2720058	NM_003265.3(TLR3):c.1925T>C (p.Met642Thr)	TLR3 (M642T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2719953	NM_003265.3(TLR3):c.1148A>T (p.Tyr383Phe)	TLR3 (Y383F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2712024	NM_003265.3(TLR3):c.488A>C (p.Lys163Thr)	TLR3 (K163T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2708204	NM_003265.3(TLR3):c.2682A>G (p.Gln894=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2704324	NM_003265.3(TLR3):c.2238A>C (p.Glu746Asp)	TLR3 (E746D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2687958	NM_003265.3(TLR3):c.2486+50T>C	TLR3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685137	GRCh37/hg19 4q35.1-35.2(chr4:186950483-187201211)x1	CYP4V2, F11 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685136	GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1	CYP4V2, F11 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2655213	NM_003265.3(TLR3):c.2215C>A (p.His739Asn)	TLR3 (H739N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +2 more	GUncertain significance
Select item 2636061	NM_003265.3(TLR3):c.1478A>G (p.Lys493Arg)	TLR3 (K493R)	Single nucleotide variant (missense variant)	TLR3-related disorder	GUncertain significance
Select item 2635905	NM_003265.3(TLR3):c.1645G>A (p.Ala549Thr)	TLR3 (A549T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2635218	NM_003265.3(TLR3):c.415A>C (p.Lys139Gln)	TLR3 (K139Q)	Single nucleotide variant (missense variant)	TLR3-related disorder	GUncertain significance
Select item 2585561	NM_003265.3(TLR3):c.1873G>T (p.Val625Phe)	TLR3 (V625F)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections	GUncertain significance
Select item 2529361	NM_003265.3(TLR3):c.1163A>C (p.Asn388Thr)	TLR3 (N388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527856	NM_003265.3(TLR3):c.671T>A (p.Phe224Tyr)	TLR3 (F224Y)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2492893	NM_003265.3(TLR3):c.662G>T (p.Gly221Val)	TLR3 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 6