7098[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	CYP4V2, F11 +26 more	Deletion	not provided	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 57915	GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3	CYP4V2, F11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 149571	GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4	CYP4V2, F11 +41 more	Copy number gain	See cases	GUncertain significance
Select item 152067	GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1	CYP4V2, F11 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155401	GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4	CYP4V2, FAM149A +10 more	Copy number gain	See cases	GLikely benign
Select item 223122	NC_000004.12:g.(?_186013132)_(186215992_?)dup	FAM149A, FLJ38576 +10 more	Duplication	Autism spectrum disorder	GUncertain significance
Select item 149040	GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1	CYP4V2, F11 +10 more	Copy number loss	See cases	GPathogenic
Select item 583483	NC_000004.11:g.(?_186997754)_(187006047_?)dup	TLR3	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1166908	NM_003265.3(TLR3):c.-7C>A	TLR3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
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 1973336	NM_003265.3(TLR3):c.13_14del (p.Leu5fs)	TLR3 (L5fs)	Deletion (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1051423	NM_003265.3(TLR3):c.17C>T (p.Pro6Leu)	TLR3 (P6L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1079617	NM_003265.3(TLR3):c.24C>T (p.Ile8=)	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 2150749	NM_003265.3(TLR3):c.33G>C (p.Trp11Cys)	TLR3 (W11C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2069362	NM_003265.3(TLR3):c.33G>T (p.Trp11Cys)	TLR3 (W11C)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 470484	NM_003265.3(TLR3):c.34G>C (p.Gly12Arg)	TLR3 (G12R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1980829	NM_003265.3(TLR3):c.38G>C (p.Gly13Ala)	TLR3 (G13A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1504695	NM_003265.3(TLR3):c.38G>A (p.Gly13Asp)	TLR3 (G13D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1124955	NM_003265.3(TLR3):c.39C>A (p.Gly13=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1101924	NM_003265.3(TLR3):c.39C>T (p.Gly13=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 714646	NM_003265.3(TLR3):c.44T>G (p.Leu15Trp)	TLR3 (L15W)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
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 1087415	NM_003265.3(TLR3):c.66A>G (p.Ala22=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 647020	NM_003265.3(TLR3):c.71C>T (p.Ser24Phe)	TLR3 (S24F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1146308	NM_003265.3(TLR3):c.72C>T (p.Ser24=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1018948	NM_003265.3(TLR3):c.86C>T (p.Thr29Ile)	TLR3 (T29I)	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 2148502	NM_003265.3(TLR3):c.90T>C (p.Val30=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1465072	NM_003265.3(TLR3):c.106_129del (p.Asp36_Thr43del)	TLR3	Deletion (inframe_deletion)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 956119	NM_003265.3(TLR3):c.109T>C (p.Cys37Arg)	TLR3 (C37R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2160918	NM_003265.3(TLR3):c.138C>T (p.Pro46=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1416387	NM_003265.3(TLR3):c.139G>A (p.Asp47Asn)	TLR3 (D47N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1376670	NM_003265.3(TLR3):c.140A>T (p.Asp47Val)	TLR3 (D47V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 1580931	NM_003265.3(TLR3):c.144T>C (p.Asp48=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2068152	NM_003265.3(TLR3):c.154A>G (p.Asn52Asp)	TLR3 (N52D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1968909	NM_003265.3(TLR3):c.157A>G (p.Ile53Val)	TLR3 (I53V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 851938	NM_003265.3(TLR3):c.157A>C (p.Ile53Leu)	TLR3 (I53L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1099990	NM_003265.3(TLR3):c.165G>C (p.Val55=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 537938	NM_003265.3(TLR3):c.165G>A (p.Val55=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1546284	NM_003265.3(TLR3):c.174T>C (p.Leu58=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 569628	NM_003265.3(TLR3):c.176C>A (p.Thr59Asn)	TLR3 (T59N)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection +2 more	GUncertain significance
Select item 1642716	NM_003265.3(TLR3):c.177C>T (p.Thr59=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
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 1598345	NM_003265.3(TLR3):c.193A>C (p.Arg65=)	TLR3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 665949	NM_003265.3(TLR3):c.205G>A (p.Ala69Thr)	TLR3 (A69T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance

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