NM_003265.3(TLR3):c.34G>C (p.Gly12Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000524712] |
Chr4:186076653 [GRCh38] Chr4:186997807 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2209T>A (p.Ser737Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000528448] |
Chr4:186083895 [GRCh38] Chr4:187005049 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.2385G>A (p.Ala795=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001494010] |
Chr4:186084071 [GRCh38] Chr4:187005225 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1927C>A (p.Arg643Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000547764] |
Chr4:186083613 [GRCh38] Chr4:187004767 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.1704C>T (p.Asn568=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000528537] |
Chr4:186083390 [GRCh38] Chr4:187004544 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647016]|Immunodeficiency 83, susceptibility to viral infections [RCV000007044]|Susceptibility to HIV infection [RCV002496289]|not specified [RCV000826059] |
Chr4:186083346 [GRCh38] Chr4:187004500 [GRCh37] Chr4:4q35.1 |
risk factor|uncertain significance |
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 |
copy number loss |
See cases [RCV000050324] |
Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1 |
pathogenic |
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001519768]|Immunodeficiency 83, susceptibility to viral infections [RCV000610503]|Susceptibility to HIV infection [RCV000034357]|Susceptibility to HIV infection [RCV002490456]|TLR3-related disorder [RCV003974868]|not provided [RCV001642535]|not specified [RCV000455666] |
Chr4:186082920 [GRCh38] Chr4:187004074 [GRCh37] Chr4:4q35.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective |
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 |
copy number loss |
See cases [RCV000050771] |
Chr4:173599911..188624331 [GRCh38] Chr4:174521062..189545485 [GRCh37] Chr4:174757637..189782479 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 |
copy number gain |
See cases [RCV000050649] |
Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 |
copy number loss |
See cases [RCV000050665] |
Chr4:183528264..188624331 [GRCh38] Chr4:184449417..189545485 [GRCh37] Chr4:184686411..189782479 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 |
copy number loss |
See cases [RCV000051215] |
Chr4:175483683..189975519 [GRCh38] Chr4:176404834..190828225 [GRCh37] Chr4:176641828..191133668 [NCBI36] Chr4:4q34.2-35.2 |
pathogenic |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 |
copy number gain |
See cases [RCV000051786] |
Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] |
Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] |
Chr4:167218288..189975519 [GRCh38] Chr4:168139439..190828225 [GRCh37] Chr4:168376014..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 |
copy number gain |
See cases [RCV000051804] |
Chr4:172200228..189975519 [GRCh38] Chr4:173121379..190828225 [GRCh37] Chr4:173357954..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 |
copy number gain |
See cases [RCV000051805] |
Chr4:179946068..189548183 [GRCh38] Chr4:180867221..190469337 [GRCh37] Chr4:181104215..190706331 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3 |
copy number gain |
See cases [RCV000051657] |
Chr4:185738786..186557156 [GRCh38] Chr4:186659940..187478310 [GRCh37] Chr4:186896934..187715304 [NCBI36] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] |
Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] |
Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 |
copy number loss |
See cases [RCV000053347] |
Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 |
copy number loss |
See cases [RCV000053349] |
Chr4:171507704..189869726 [GRCh38] Chr4:172428855..190790881 [GRCh37] Chr4:172665430..191027875 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 |
copy number loss |
See cases [RCV000053352] |
Chr4:172356988..189975519 [GRCh38] Chr4:173278139..190828225 [GRCh37] Chr4:173514714..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 |
copy number loss |
See cases [RCV000053353] |
Chr4:173754675..189343295 [GRCh38] Chr4:174675826..190264449 [GRCh37] Chr4:174912401..190501443 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 |
copy number loss |
See cases [RCV000053378] |
Chr4:183354112..190042639 [GRCh38] Chr4:184275265..190828225 [GRCh37] Chr4:184512259..191200788 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 |
copy number loss |
See cases [RCV000053379] |
Chr4:185074103..189867552 [GRCh38] Chr4:185995257..190788707 [GRCh37] Chr4:186232251..191025701 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 |
copy number loss |
See cases [RCV000053394] |
Chr4:185351249..189867552 [GRCh38] Chr4:186272403..190788707 [GRCh37] Chr4:186509397..191025701 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185498280-186984787)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|See cases [RCV000053395] |
Chr4:185498280..186984787 [GRCh38] Chr4:186419434..187905941 [GRCh37] Chr4:186656428..188142935 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] |
Chr4:176263514..189975519 [GRCh38] Chr4:177184665..190828225 [GRCh37] Chr4:177421659..191133668 [NCBI36] Chr4:4q34.2-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 |
copy number loss |
See cases [RCV000053374] |
Chr4:177442769..190042639 [GRCh38] Chr4:178363923..190828225 [GRCh37] Chr4:178600917..191200788 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 |
copy number loss |
See cases [RCV000053375] |
Chr4:179669472..189975660 [GRCh38] Chr4:180590625..190828225 [GRCh37] Chr4:180827619..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] |
Chr4:179945868..189975660 [GRCh38] Chr4:180867021..190828225 [GRCh37] Chr4:181104015..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] |
Chr4:181455566..189975660 [GRCh38] Chr4:182376719..190828225 [GRCh37] Chr4:182613713..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.138C>T (p.Pro46=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003087782] |
Chr4:186076757 [GRCh38] Chr4:186997911 [GRCh37] Chr4:187234905 [NCBI36] Chr4:4q35.1 |
likely benign|not provided |
NM_003265.3(TLR3):c.1038T>A (p.Ile346=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001213666] |
Chr4:186082724 [GRCh38] Chr4:187003878 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 |
copy number gain |
See cases [RCV000133708] |
Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190828225 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 |
copy number loss |
See cases [RCV000133709] |
Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190896674 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2 |
likely pathogenic|likely benign |
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 |
copy number gain |
See cases [RCV000134158] |
Chr4:184406972..188915538 [GRCh38] Chr4:185328126..189836692 [GRCh37] Chr4:185565120..190073686 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 |
copy number loss |
See cases [RCV000134276] |
Chr4:182437091..190018185 [GRCh38] Chr4:183358244..190939340 [GRCh37] Chr4:183595238..191176334 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 |
copy number gain |
See cases [RCV000135845] |
Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 |
copy number gain |
See cases [RCV000135693] |
Chr4:180451652..190095391 [GRCh38] Chr4:181372805..190828225 [GRCh37] Chr4:181609799..191250527 [NCBI36] Chr4:4q34.3-35.2 |
likely pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 |
copy number loss |
See cases [RCV000136115] |
Chr4:173854560..189548183 [GRCh38] Chr4:174775711..190469337 [GRCh37] Chr4:175012286..190706331 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 |
copy number loss |
See cases [RCV000136942] |
Chr4:184239531..189975519 [GRCh38] Chr4:185160684..190828225 [GRCh37] Chr4:185397678..191133668 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 |
copy number loss |
See cases [RCV000137101] |
Chr4:177985956..189975519 [GRCh38] Chr4:178907110..190828225 [GRCh37] Chr4:179144104..191133668 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 |
copy number gain |
See cases [RCV000136810] |
Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 |
copy number gain |
See cases [RCV000137721] |
Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 |
copy number loss |
See cases [RCV000137532] |
Chr4:166317587..190095391 [GRCh38] Chr4:167238739..190828225 [GRCh37] Chr4:167458189..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 |
copy number loss |
See cases [RCV000137343] |
Chr4:178014570..190095391 [GRCh38] Chr4:178935724..190828225 [GRCh37] Chr4:179172718..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 |
copy number loss |
See cases [RCV000137262] |
Chr4:178549472..190095391 [GRCh38] Chr4:179470626..190828225 [GRCh37] Chr4:179707620..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 |
copy number loss |
See cases [RCV000137345] |
Chr4:180574962..190095391 [GRCh38] Chr4:181496115..190828225 [GRCh37] Chr4:181733109..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1 |
copy number loss |
See cases [RCV000138100] |
Chr4:186037136..186271594 [GRCh38] Chr4:186958290..187192748 [GRCh37] Chr4:187195284..187429742 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 |
copy number loss |
See cases [RCV000137925] |
Chr4:174150183..188259055 [GRCh38] Chr4:175071334..189180209 [GRCh37] Chr4:175307909..189417203 [NCBI36] Chr4:4q34.1-35.2 |
likely pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 |
copy number loss |
See cases [RCV000138668] |
Chr4:183072743..190095391 [GRCh38] Chr4:183993896..190828225 [GRCh37] Chr4:184230890..191250527 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 |
copy number gain |
See cases [RCV000138568] |
Chr4:185790027..187829822 [GRCh38] Chr4:186711181..188750976 [GRCh37] Chr4:186948175..188987970 [NCBI36] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 |
copy number gain |
See cases [RCV000138540] |
Chr4:169901205..190095391 [GRCh38] Chr4:170822356..190828225 [GRCh37] Chr4:171058931..191250527 [NCBI36] Chr4:4q33-35.2 |
uncertain significance |
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 |
copy number loss |
See cases [RCV000140396] |
Chr4:169873508..190018185 [GRCh38] Chr4:170794659..190939340 [GRCh37] Chr4:171031234..191176334 [NCBI36] Chr4:4q33-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 |
copy number loss |
See cases [RCV000140414] |
Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 |
copy number gain |
See cases [RCV000140450] |
Chr4:179295511..190036318 [GRCh38] Chr4:180216665..190957473 [GRCh37] Chr4:180453659..191194467 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 |
copy number loss |
See cases [RCV000139618] |
Chr4:185698962..189975613 [GRCh38] Chr4:186620116..190828225 [GRCh37] Chr4:186857110..191133762 [NCBI36] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 |
copy number gain |
See cases [RCV000141422] |
Chr4:184924265..186578389 [GRCh38] Chr4:185845419..187499543 [GRCh37] Chr4:186082413..187736537 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 |
copy number gain |
See cases [RCV000140982] |
Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1 |
copy number loss |
See cases [RCV000140721] |
Chr4:185991833..186443602 [GRCh38] Chr4:186912987..187364756 [GRCh37] Chr4:187149981..187601750 [NCBI36] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 |
copy number loss |
See cases [RCV000141964] |
Chr4:167373716..190036318 [GRCh38] Chr4:168294867..190957473 [GRCh37] Chr4:168531442..191194467 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 |
copy number loss |
See cases [RCV000141490] |
Chr4:173989029..189975519 [GRCh38] Chr4:174910180..190828225 [GRCh37] Chr4:175146755..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 |
copy number gain |
See cases [RCV000141753] |
Chr4:182732498..187998523 [GRCh38] Chr4:183653651..188919677 [GRCh37] Chr4:183890645..189156671 [NCBI36] Chr4:4q35.1-35.2 |
likely pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 |
copy number loss |
See cases [RCV000141727] |
Chr4:185290811..187350114 [GRCh38] Chr4:186211965..188271268 [GRCh37] Chr4:186448959..188508262 [NCBI36] Chr4:4q35.1-35.2 |
likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 |
copy number loss |
See cases [RCV000142368] |
Chr4:168970400..186936738 [GRCh38] Chr4:169891551..187857892 [GRCh37] Chr4:170128126..188094886 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 |
copy number loss |
See cases [RCV000143079] |
Chr4:172501374..190095332 [GRCh38] Chr4:173422525..190828225 [GRCh37] Chr4:173659100..191250468 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 |
copy number gain |
See cases [RCV000143010] |
Chr4:180717850..190095391 [GRCh38] Chr4:181639003..190828225 [GRCh37] Chr4:181875997..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 |
copy number gain |
See cases [RCV000143331] |
Chr4:168119317..190095391 [GRCh38] Chr4:169040468..190828225 [GRCh37] Chr4:169277043..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 |
copy number loss |
See cases [RCV000143232] |
Chr4:170899124..190036318 [GRCh38] Chr4:171820275..190957473 [GRCh37] Chr4:172056850..191194467 [NCBI36] Chr4:4q33-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 |
copy number loss |
See cases [RCV000143626] |
Chr4:176756632..189621964 [GRCh38] Chr4:177677786..190543118 [GRCh37] Chr4:177914780..190780112 [NCBI36] Chr4:4q34.3-35.2 |
likely pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4 |
copy number gain |
See cases [RCV000143468] |
Chr4:186008491..186212590 [GRCh38] Chr4:186929645..187133744 [GRCh37] Chr4:187166639..187370738 [NCBI36] Chr4:4q35.1-35.2 |
likely benign|uncertain significance |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 |
copy number gain |
See cases [RCV000143559] |
Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 |
copy number gain |
See cases [RCV000143575] |
Chr4:185601825..187530334 [GRCh38] Chr4:186522979..188451488 [GRCh37] Chr4:186759973..188688482 [NCBI36] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 |
copy number loss |
See cases [RCV000148272] |
Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 |
copy number loss |
See cases [RCV000239790] |
Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
NC_000004.12:g.(?_186013132)_(186215992_?)dup |
duplication |
Autism spectrum disorder [RCV000208739] |
Chr4:186013132..186215992 [GRCh38] Chr4:186934286..187137146 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 |
copy number loss |
See cases [RCV000239851] |
Chr4:178243625..190713650 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 |
copy number loss |
See cases [RCV000240072] |
Chr4:185941418..189180194 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 |
copy number gain |
See cases [RCV000240392] |
Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1677G>A (p.Lys559=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000548139] |
Chr4:186083363 [GRCh38] Chr4:187004517 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.2553C>T (p.Phe851=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000553385] |
Chr4:186084711 [GRCh38] Chr4:187005865 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.1079T>C (p.Leu360Pro) |
single nucleotide variant |
Immunodeficiency 83, susceptibility to viral infections [RCV000586170] |
Chr4:186082765 [GRCh38] Chr4:187003919 [GRCh37] Chr4:4q35.1 |
risk factor |
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001440832]|Immunodeficiency 83, susceptibility to viral infections [RCV000587136] |
Chr4:186084758 [GRCh38] Chr4:187005912 [GRCh37] Chr4:4q35.1 |
risk factor|likely benign |
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 |
copy number loss |
See cases [RCV000449363] |
Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 |
copy number loss |
See cases [RCV000449221] |
Chr4:185253508..190713591 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 |
copy number loss |
See cases [RCV000446613] |
Chr4:175550289..190838582 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 |
copy number loss |
See cases [RCV000446115] |
Chr4:167413365..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 |
copy number gain |
See cases [RCV000446235] |
Chr4:185978583..188762387 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1(chr4:186581661-187074987)x3 |
copy number gain |
See cases [RCV000446644] |
Chr4:186581661..187074987 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 |
copy number gain |
See cases [RCV000446531] |
Chr4:166735148..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1 |
copy number loss |
See cases [RCV000446459] |
Chr4:186252440..190713591 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 |
copy number loss |
See cases [RCV000445881] |
Chr4:175749001..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 |
copy number loss |
See cases [RCV000448048] |
Chr4:175550289..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1377C>T (p.Phe459=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001514931]|not provided [RCV001692126]|not specified [RCV000454544] |
Chr4:186083063 [GRCh38] Chr4:187004217 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 |
copy number loss |
See cases [RCV000512074] |
Chr4:184852835..190957473 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
NM_003265.3(TLR3):c.919T>G (p.Tyr307Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000554243] |
Chr4:186082605 [GRCh38] Chr4:187003759 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 |
copy number gain |
See cases [RCV000510222] |
Chr4:166436844..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 |
copy number gain |
See cases [RCV000510660] |
Chr4:185958310..189223175 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 |
copy number gain |
See cases [RCV000510713] |
Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 |
copy number gain |
See cases [RCV000511078] |
Chr4:176306103..190957473 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1 |
copy number loss |
See cases [RCV000510959] |
Chr4:186349585..190957473 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
NM_003265.3(TLR3):c.2265A>G (p.Glu755=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000540763] |
Chr4:186083951 [GRCh38] Chr4:187005105 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2556T>G (p.Leu852=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647021] |
Chr4:186084714 [GRCh38] Chr4:187005868 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.838G>A (p.Asp280Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647022] |
Chr4:186082524 [GRCh38] Chr4:187003678 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.1834C>T (p.Leu612=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647023] |
Chr4:186083520 [GRCh38] Chr4:187004674 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.957C>A (p.His319Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647024]|not specified [RCV004025720] |
Chr4:186082643 [GRCh38] Chr4:187003797 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
NM_003265.3(TLR3):c.2079A>C (p.Thr693=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647030] |
Chr4:186083765 [GRCh38] Chr4:187004919 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2011C>T (p.Leu671=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647032] |
Chr4:186083697 [GRCh38] Chr4:187004851 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.165G>A (p.Val55=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001484660] |
Chr4:186076784 [GRCh38] Chr4:186997938 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.727T>C (p.Leu243=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000541647]|not provided [RCV004546518] |
Chr4:186082413 [GRCh38] Chr4:187003567 [GRCh37] Chr4:4q35.1 |
benign|likely benign |
NM_003265.3(TLR3):c.671T>A (p.Phe224Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003779920]|not specified [RCV004301117] |
Chr4:186082357 [GRCh38] Chr4:187003511 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.889C>G (p.Leu297Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647014]|Immunodeficiency 83, susceptibility to viral infections [RCV000587900]|Multisystem inflammatory syndrome in children [RCV001779020] |
Chr4:186082575 [GRCh38] Chr4:187003729 [GRCh37] Chr4:4q35.1 |
risk factor|likely benign|uncertain significance |
NM_003265.3(TLR3):c.2236G>T (p.Glu746Ter) |
single nucleotide variant |
Immunodeficiency 83, susceptibility to viral infections [RCV000590389] |
Chr4:186083922 [GRCh38] Chr4:187005076 [GRCh37] Chr4:4q35.1 |
risk factor |
NM_003265.3(TLR3):c.1716C>T (p.Asn572=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001853712] |
Chr4:186083402 [GRCh38] Chr4:187004556 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.958G>A (p.Gly320Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647013] |
Chr4:186082644 [GRCh38] Chr4:187003798 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1489A>G (p.Ser497Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647015] |
Chr4:186083175 [GRCh38] Chr4:187004329 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2497C>T (p.His833Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647017] |
Chr4:186084655 [GRCh38] Chr4:187005809 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.634-10C>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000647019]|TLR3-related disorder [RCV003980254]|not provided [RCV001702539] |
Chr4:186082310 [GRCh38] Chr4:187003464 [GRCh37] Chr4:4q35.1 |
benign|likely benign |
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 |
copy number gain |
See cases [RCV000512153] |
Chr4:180702769..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 |
copy number gain |
See cases [RCV000512542] |
Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 |
copy number loss |
not provided [RCV000682484] |
Chr4:169969014..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 |
copy number loss |
not provided [RCV000682492] |
Chr4:175709188..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 |
copy number gain |
not provided [RCV000682497] |
Chr4:185017749..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186496069-189142432)x3 |
copy number gain |
not provided [RCV000682499] |
Chr4:186496069..189142432 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 |
copy number gain |
not provided [RCV000682478] |
Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 |
copy number gain |
not provided [RCV000682495] |
Chr4:178771936..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186555741-187379745)x1 |
copy number loss |
not provided [RCV000682500] |
Chr4:186555741..187379745 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
Single allele |
deletion |
not provided [RCV000677918] |
Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 |
copy number loss |
not provided [RCV000682493] |
Chr4:176493246..190957473 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
NM_003265.3(TLR3):c.655G>A (p.Ala219Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000688142] |
Chr4:186082341 [GRCh38] Chr4:187003495 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2693G>A (p.Gly898Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000684924] |
Chr4:186084851 [GRCh38] Chr4:187006005 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1471G>A (p.Ala491Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000692710] |
Chr4:186083157 [GRCh38] Chr4:187004311 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.554C>T (p.Ala185Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000691916]|Susceptibility to HIV infection [RCV003224374] |
Chr4:186078952 [GRCh38] Chr4:187000106 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1854del (p.Lys619fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000702041] |
Chr4:186083540 [GRCh38] Chr4:187004694 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.176C>A (p.Thr59Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000690308]|Susceptibility to HIV infection [RCV002499225] |
Chr4:186076795 [GRCh38] Chr4:186997949 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186997754)_(187006047_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000707799] |
Chr4:186076600..186084893 [GRCh38] Chr4:186997754..187006047 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2228G>A (p.Gly743Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000691555] |
Chr4:186083914 [GRCh38] Chr4:187005068 [GRCh37] Chr4:4q35.1 |
uncertain significance |
Single allele |
duplication |
Autism [RCV000754289] |
Chr4:185324779..188495308 [GRCh38] Chr4:4q35.1-35.2 |
likely pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 |
copy number loss |
not provided [RCV000744206] |
Chr4:183157313..191028879 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 |
copy number gain |
not provided [RCV000744219] |
Chr4:184040122..187880098 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 |
copy number loss |
not provided [RCV000744226] |
Chr4:185137253..190915650 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186953813-187201271)x1 |
copy number loss |
not provided [RCV000744246] |
Chr4:186953813..187201271 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:186983342-187054136)x3 |
copy number gain |
not provided [RCV000744247] |
Chr4:186983342..187054136 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q35.1(chr4:186997767-187021315)x3 |
copy number gain |
not provided [RCV000744248] |
Chr4:186997767..187021315 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_003265.3(TLR3):c.1987G>A (p.Glu663Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001045314]|not specified [RCV004031395] |
Chr4:186083673 [GRCh38] Chr4:187004827 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
NM_003265.3(TLR3):c.2664C>T (p.Ala888=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000885249]|TLR3-related disorder [RCV003968033] |
Chr4:186084822 [GRCh38] Chr4:187005976 [GRCh37] Chr4:4q35.1 |
benign|likely benign |
NM_003265.3(TLR3):c.1295A>G (p.His432Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000923258] |
Chr4:186082981 [GRCh38] Chr4:187004135 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.735A>G (p.Leu245=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001469372] |
Chr4:186082421 [GRCh38] Chr4:187003575 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000924250]|not provided [RCV001356067] |
Chr4:186083271 [GRCh38] Chr4:187004425 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
NM_003265.3(TLR3):c.612G>A (p.Leu204=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000968899]|TLR3-related disorder [RCV003962857] |
Chr4:186079010 [GRCh38] Chr4:187000164 [GRCh37] Chr4:4q35.1 |
benign|likely benign |
NM_003265.3(TLR3):c.798A>G (p.Thr266=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000982316] |
Chr4:186082484 [GRCh38] Chr4:187003638 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2710C>T (p.His904Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001062497]|not specified [RCV004030458] |
Chr4:186084868 [GRCh38] Chr4:187006022 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1559A>G (p.Asn520Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000792859] |
Chr4:186083245 [GRCh38] Chr4:187004399 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) |
copy number loss |
not provided [RCV000767793] |
Chr4:174610492..190427545 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.2217T>C (p.His739=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000964978]|not provided [RCV003438634] |
Chr4:186083903 [GRCh38] Chr4:187005057 [GRCh37] Chr4:4q35.1 |
benign|likely benign |
NM_003265.3(TLR3):c.1740G>A (p.Glu580=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001410960] |
Chr4:186083426 [GRCh38] Chr4:187004580 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1296C>T (p.His432=) |
single nucleotide variant |
not provided [RCV000923654] |
Chr4:186082982 [GRCh38] Chr4:187004136 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1683G>A (p.Leu561=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000921403] |
Chr4:186083369 [GRCh38] Chr4:187004523 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) |
copy number loss |
not provided [RCV000767673] |
Chr4:171663620..190431429 [GRCh37] Chr4:4q33-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 |
copy number loss |
not provided [RCV000845722] |
Chr4:166623890..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1928G>A (p.Arg643His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000797613] |
Chr4:186083614 [GRCh38] Chr4:187004768 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2371A>G (p.Arg791Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000794791] |
Chr4:186084057 [GRCh38] Chr4:187005211 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:186925106-187129431)x3 |
copy number gain |
not provided [RCV000849830] |
Chr4:186925106..187129431 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 |
copy number loss |
not provided [RCV000849865] |
Chr4:179996712..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1234C>G (p.Leu412Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000813289] |
Chr4:186082920 [GRCh38] Chr4:187004074 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.585del (p.Asn196fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000817148] |
Chr4:186078982 [GRCh38] Chr4:187000136 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.71C>T (p.Ser24Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000801422] |
Chr4:186076690 [GRCh38] Chr4:186997844 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000824342] |
Chr4:186076824 [GRCh38] Chr4:186997978 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1072G>A (p.Glu358Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000798202] |
Chr4:186082758 [GRCh38] Chr4:187003912 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.442-6C>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000812537] |
Chr4:186078834 [GRCh38] Chr4:186999988 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.266A>C (p.Lys89Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000812780] |
Chr4:186076885 [GRCh38] Chr4:186998039 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.12:g.(?_185684754)_(186709827_?)del |
deletion |
not provided [RCV000798147] |
Chr4:185684754..186709827 [GRCh38] Chr4:186605908..187630981 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1378G>A (p.Glu460Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000792842] |
Chr4:186083064 [GRCh38] Chr4:187004218 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2654G>A (p.Arg885Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000802044]|not specified [RCV004028088] |
Chr4:186084812 [GRCh38] Chr4:187005966 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2384C>T (p.Ala795Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000808130] |
Chr4:186084070 [GRCh38] Chr4:187005224 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1774G>A (p.Asp592Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000794530] |
Chr4:186083460 [GRCh38] Chr4:187004614 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1430C>T (p.Ala477Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000800885] |
Chr4:186083116 [GRCh38] Chr4:187004270 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 |
copy number gain |
not provided [RCV000847360] |
Chr4:169607746..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 |
copy number loss |
not provided [RCV000846268] |
Chr4:177189906..190816266 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 |
copy number gain |
not provided [RCV001005631] |
Chr4:185785184..188207908 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:186950482-187204447)x1 |
copy number loss |
not provided [RCV000846394] |
Chr4:186950482..187204447 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:186925106-187135487)x3 |
copy number gain |
not provided [RCV000846403] |
Chr4:186925106..187135487 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 |
copy number loss |
not provided [RCV000846185] |
Chr4:184648532..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 |
copy number gain |
not provided [RCV001005627] |
Chr4:179752903..187987047 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 |
copy number gain |
not provided [RCV000849098] |
Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.343del (p.Ser115fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001237595] |
Chr4:186076960 [GRCh38] Chr4:186998114 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1385A>T (p.Tyr462Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001224743] |
Chr4:186083071 [GRCh38] Chr4:187004225 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.499C>T (p.Gln167Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001225905] |
Chr4:186078897 [GRCh38] Chr4:187000051 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 |
copy number loss |
not provided [RCV000998343] |
Chr4:183245174..190948359 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
NM_003265.3(TLR3):c.634-10C>T |
single nucleotide variant |
not provided [RCV000949707] |
Chr4:186082310 [GRCh38] Chr4:187003464 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.634-7C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002547197] |
Chr4:186082313 [GRCh38] Chr4:187003467 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.634-6C>T |
single nucleotide variant |
not provided [RCV000949709] |
Chr4:186082314 [GRCh38] Chr4:187003468 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.900A>G (p.Leu300=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000941513] |
Chr4:186082586 [GRCh38] Chr4:187003740 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1986C>T (p.Asn662=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001443070] |
Chr4:186083672 [GRCh38] Chr4:187004826 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.442-8C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000976275] |
Chr4:186078832 [GRCh38] Chr4:186999986 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.972G>T (p.Val324=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001426159] |
Chr4:186082658 [GRCh38] Chr4:187003812 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.44T>G (p.Leu15Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000886990] |
Chr4:186076663 [GRCh38] Chr4:186997817 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.634-8A>T |
single nucleotide variant |
not provided [RCV000948689] |
Chr4:186082312 [GRCh38] Chr4:187003466 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1284T>G (p.Ser428=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV000887798] |
Chr4:186082970 [GRCh38] Chr4:187004124 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.2680C>A (p.Gln894Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001227082] |
Chr4:186084838 [GRCh38] Chr4:187005992 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1510C>G (p.Pro504Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001231953] |
Chr4:186083196 [GRCh38] Chr4:187004350 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2068C>A (p.Leu690Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001227356] |
Chr4:186083754 [GRCh38] Chr4:187004908 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2102C>T (p.Pro701Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001234605] |
Chr4:186083788 [GRCh38] Chr4:187004942 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2615A>G (p.Lys872Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001206683] |
Chr4:186084773 [GRCh38] Chr4:187005927 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1984A>C (p.Asn662His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001046124] |
Chr4:186083670 [GRCh38] Chr4:187004824 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1142T>C (p.Leu381Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001217990] |
Chr4:186082828 [GRCh38] Chr4:187003982 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 |
copy number loss |
not provided [RCV001005626] |
Chr4:178566256..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 |
copy number loss |
not provided [RCV002472626] |
Chr4:183694501..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1028T>C (p.Leu343Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001049024] |
Chr4:186082714 [GRCh38] Chr4:187003868 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.755A>G (p.Asn252Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001035573] |
Chr4:186082441 [GRCh38] Chr4:187003595 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.874G>A (p.Asp292Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001067331] |
Chr4:186082560 [GRCh38] Chr4:187003714 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.458A>C (p.Asp153Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001046126] |
Chr4:186078856 [GRCh38] Chr4:187000010 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2405C>A (p.Ala802Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001047929] |
Chr4:186084091 [GRCh38] Chr4:187005245 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2164C>G (p.Leu722Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001207347] |
Chr4:186083850 [GRCh38] Chr4:187005004 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1488T>A (p.Asp496Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001041562] |
Chr4:186083174 [GRCh38] Chr4:187004328 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.157A>C (p.Ile53Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001056449] |
Chr4:186076776 [GRCh38] Chr4:186997930 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2015C>G (p.Ser672Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001217714] |
Chr4:186083701 [GRCh38] Chr4:187004855 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.242A>G (p.Asp81Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001247828] |
Chr4:186076861 [GRCh38] Chr4:186998015 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1927C>T (p.Arg643Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001040608] |
Chr4:186083613 [GRCh38] Chr4:187004767 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.467A>G (p.His156Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001228496] |
Chr4:186078865 [GRCh38] Chr4:187000019 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.994T>C (p.Ser332Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001205518] |
Chr4:186082680 [GRCh38] Chr4:187003834 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.12:g.(?_186076620)_(186210641_?)dup |
duplication |
not provided [RCV001033024] |
Chr4:186997774..187131795 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 |
copy number loss |
not provided [RCV001005612] |
Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1012A>G (p.Ile338Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001050976] |
Chr4:186082698 [GRCh38] Chr4:187003852 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.851A>T (p.Asn284Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001052136] |
Chr4:186082537 [GRCh38] Chr4:187003691 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1986C>G (p.Asn662Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001056644] |
Chr4:186083672 [GRCh38] Chr4:187004826 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2516C>A (p.Ala839Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001063073]|not specified [RCV004030479] |
Chr4:186084674 [GRCh38] Chr4:187005828 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1613A>C (p.Gln538Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001048903] |
Chr4:186083299 [GRCh38] Chr4:187004453 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.109T>C (p.Cys37Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001228863] |
Chr4:186076728 [GRCh38] Chr4:186997882 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1177T>A (p.Leu393Met) |
single nucleotide variant |
not specified [RCV004684148] |
Chr4:186082863 [GRCh38] Chr4:187004017 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2039C>T (p.Pro680Leu) |
single nucleotide variant |
Immunodeficiency 83, susceptibility to viral infections [RCV001533543] |
Chr4:186083725 [GRCh38] Chr4:187004879 [GRCh37] Chr4:4q35.1 |
risk factor |
NM_003265.3(TLR3):c.628A>G (p.Lys210Glu) |
single nucleotide variant |
not specified [RCV004684151] |
Chr4:186079026 [GRCh38] Chr4:187000180 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) |
copy number loss |
Atypical behavior [RCV001291982] |
Chr4:179554876..190916678 [GRCh37] Chr4:4q34.3-35.2 |
likely pathogenic |
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002568915]|Immunodeficiency 83, susceptibility to viral infections [RCV001533542]|not provided [RCV001815586] |
Chr4:186078995 [GRCh38] Chr4:187000149 [GRCh37] Chr4:4q35.1 |
risk factor|uncertain significance |
GRCh37/hg19 4q35.1(chr4:186858293-187097385)x1 |
copy number loss |
not provided [RCV001258669] |
Chr4:186858293..187097385 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1884G>C (p.Lys628Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001306817] |
Chr4:186083570 [GRCh38] Chr4:187004724 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.448A>T (p.Ile150Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001301512] |
Chr4:186078846 [GRCh38] Chr4:187000000 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1528A>G (p.Ile510Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001319374]|not specified [RCV004034967] |
Chr4:186083214 [GRCh38] Chr4:187004368 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.368C>T (p.Thr123Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001342311] |
Chr4:186076987 [GRCh38] Chr4:186998141 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.415A>T (p.Lys139Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001308872] |
Chr4:186077034 [GRCh38] Chr4:186998188 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.392T>C (p.Met131Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001319922] |
Chr4:186077011 [GRCh38] Chr4:186998165 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1468G>T (p.Val490Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001349773]|not specified [RCV004681135] |
Chr4:186083154 [GRCh38] Chr4:187004308 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.86C>T (p.Thr29Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001318314] |
Chr4:186076705 [GRCh38] Chr4:186997859 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1015T>G (p.Ser339Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001341120]|TLR3-related disorder [RCV003399127] |
Chr4:186082701 [GRCh38] Chr4:187003855 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.259A>G (p.Ile87Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001337790] |
Chr4:186076878 [GRCh38] Chr4:186998032 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1383C>T (p.Ile461=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001397662] |
Chr4:186083069 [GRCh38] Chr4:187004223 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.653A>G (p.His218Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001317246] |
Chr4:186082339 [GRCh38] Chr4:187003493 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.333A>G (p.Leu111=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001433444] |
Chr4:186076952 [GRCh38] Chr4:186998106 [GRCh37] Chr4:4q35.1 |
likely benign |
NC_000004.11:g.(?_186997774)_(187630981_?)del |
deletion |
not provided [RCV001383167] |
Chr4:186997774..187630981 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.165G>C (p.Val55=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001422450] |
Chr4:186076784 [GRCh38] Chr4:186997938 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.952_953del (p.Leu318fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001294312] |
Chr4:186082637..186082638 [GRCh38] Chr4:187003791..187003792 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2324C>A (p.Ser775Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001317657] |
Chr4:186084010 [GRCh38] Chr4:187005164 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.293T>A (p.Leu98His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001318437] |
Chr4:186076912 [GRCh38] Chr4:186998066 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2059C>G (p.Pro687Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001371177] |
Chr4:186083745 [GRCh38] Chr4:187004899 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2260T>C (p.Phe754Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001297890] |
Chr4:186083946 [GRCh38] Chr4:187005100 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2158G>A (p.Val720Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001321841] |
Chr4:186083844 [GRCh38] Chr4:187004998 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1140C>A (p.Asn380Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001344910] |
Chr4:186082826 [GRCh38] Chr4:187003980 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.17C>T (p.Pro6Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001359457] |
Chr4:186076636 [GRCh38] Chr4:186997790 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2051A>G (p.His684Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001338767] |
Chr4:186083737 [GRCh38] Chr4:187004891 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.749T>C (p.Ile250Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001346902] |
Chr4:186082435 [GRCh38] Chr4:187003589 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2426G>A (p.Arg809Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001338082]|not specified [RCV004035854] |
Chr4:186084112 [GRCh38] Chr4:187005266 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1684T>C (p.Ser562Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001309850]|not specified [RCV004034216] |
Chr4:186083370 [GRCh38] Chr4:187004524 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2711A>T (p.His904Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001346126] |
Chr4:186084869 [GRCh38] Chr4:187006023 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001298372]|Immunodeficiency 83, susceptibility to viral infections [RCV001810019] |
Chr4:186084757 [GRCh38] Chr4:187005911 [GRCh37] Chr4:4q35.1 |
likely pathogenic|uncertain significance |
NM_003265.3(TLR3):c.1181G>A (p.Arg394Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001339110] |
Chr4:186082867 [GRCh38] Chr4:187004021 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1891G>A (p.Gly631Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001302277]|not specified [RCV004036234] |
Chr4:186083577 [GRCh38] Chr4:187004731 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1546A>G (p.Asn516Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001361893]|not specified [RCV004036816] |
Chr4:186083232 [GRCh38] Chr4:187004386 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2291A>G (p.Tyr764Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001325957] |
Chr4:186083977 [GRCh38] Chr4:187005131 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186997754)_(187006047_?)dup |
duplication |
Herpes simplex encephalitis 1 [RCV001319582] |
Chr4:186997754..187006047 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.934C>A (p.His312Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001364542] |
Chr4:186082620 [GRCh38] Chr4:187003774 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.821C>T (p.Thr274Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001360541] |
Chr4:186082507 [GRCh38] Chr4:187003661 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.24C>T (p.Ile8=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001394987] |
Chr4:186076643 [GRCh38] Chr4:186997797 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2542A>C (p.Ile848Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001307483] |
Chr4:186084700 [GRCh38] Chr4:187005854 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1976A>G (p.Asn659Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001309905] |
Chr4:186083662 [GRCh38] Chr4:187004816 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.633G>C (p.Glu211Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001298516] |
Chr4:186079031 [GRCh38] Chr4:187000185 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1231A>G (p.Ile411Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001359231] |
Chr4:186082917 [GRCh38] Chr4:187004071 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.72C>T (p.Ser24=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001485473] |
Chr4:186076691 [GRCh38] Chr4:186997845 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.705C>G (p.Pro235=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001438539] |
Chr4:186082391 [GRCh38] Chr4:187003545 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.-7C>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001515649]|not specified [RCV003487346] |
Chr4:186076613 [GRCh38] Chr4:186997767 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.238T>C (p.Leu80=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001482172] |
Chr4:186076857 [GRCh38] Chr4:186998011 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2502T>C (p.His834=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001484948] |
Chr4:186084660 [GRCh38] Chr4:187005814 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.453A>G (p.Thr151=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001476637] |
Chr4:186078851 [GRCh38] Chr4:187000005 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.717G>A (p.Glu239=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001466426] |
Chr4:186082403 [GRCh38] Chr4:187003557 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.753G>A (p.Arg251=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001474349] |
Chr4:186082439 [GRCh38] Chr4:187003593 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1773C>T (p.Ile591=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001403446] |
Chr4:186083459 [GRCh38] Chr4:187004613 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2382G>A (p.Glu794=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001403865] |
Chr4:186084068 [GRCh38] Chr4:187005222 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2523A>G (p.Glu841=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001432884] |
Chr4:186084681 [GRCh38] Chr4:187005835 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1890C>T (p.Phe630=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001444037] |
Chr4:186083576 [GRCh38] Chr4:187004730 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.39C>T (p.Gly13=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001425028] |
Chr4:186076658 [GRCh38] Chr4:186997812 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1779A>G (p.Leu593=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001439908] |
Chr4:186083465 [GRCh38] Chr4:187004619 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2400A>G (p.Leu800=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001417269] |
Chr4:186084086 [GRCh38] Chr4:187005240 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.957C>T (p.His319=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001418428] |
Chr4:186082643 [GRCh38] Chr4:187003797 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.450C>T (p.Ile150=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001403795] |
Chr4:186078848 [GRCh38] Chr4:187000002 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2592C>T (p.Leu864=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001447455] |
Chr4:186084750 [GRCh38] Chr4:187005904 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1605C>T (p.Leu535=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001447907] |
Chr4:186083291 [GRCh38] Chr4:187004445 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.346G>A (p.Asp116Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001455117] |
Chr4:186076965 [GRCh38] Chr4:186998119 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2487-4T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001503047] |
Chr4:186084641 [GRCh38] Chr4:187005795 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.66A>G (p.Ala22=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001405503] |
Chr4:186076685 [GRCh38] Chr4:186997839 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.387T>C (p.His129=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001470480] |
Chr4:186077006 [GRCh38] Chr4:186998160 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001523448]|Immunodeficiency 83, susceptibility to viral infections [RCV001533544] |
Chr4:186083910 [GRCh38] Chr4:187005064 [GRCh37] Chr4:4q35.1 |
risk factor|benign |
NM_003265.3(TLR3):c.2385G>T (p.Ala795=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001485362] |
Chr4:186084071 [GRCh38] Chr4:187005225 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2172C>T (p.His724=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001435434] |
Chr4:186083858 [GRCh38] Chr4:187005012 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.39C>A (p.Gly13=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001456547] |
Chr4:186076658 [GRCh38] Chr4:186997812 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.805T>C (p.Leu269=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001495456] |
Chr4:186082491 [GRCh38] Chr4:187003645 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2590C>G (p.Leu864Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001930085] |
Chr4:186084748 [GRCh38] Chr4:187005902 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2672A>G (p.His891Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001930096] |
Chr4:186084830 [GRCh38] Chr4:187005984 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.295C>G (p.Pro99Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001874031]|not specified [RCV004038986] |
Chr4:186076914 [GRCh38] Chr4:186998068 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2284C>A (p.His762Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002007690] |
Chr4:186083970 [GRCh38] Chr4:187005124 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2186G>A (p.Arg729Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002008763] |
Chr4:186083872 [GRCh38] Chr4:187005026 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1173A>C (p.Thr391=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002025872] |
Chr4:186082859 [GRCh38] Chr4:187004013 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1007A>G (p.Gln336Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002007794] |
Chr4:186082693 [GRCh38] Chr4:187003847 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1301A>G (p.Glu434Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001896459] |
Chr4:186082987 [GRCh38] Chr4:187004141 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2678T>C (p.Leu893Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002023265] |
Chr4:186084836 [GRCh38] Chr4:187005990 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.787A>G (p.Thr263Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001914556] |
Chr4:186082473 [GRCh38] Chr4:187003627 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.903A>G (p.Glu301=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001985268] |
Chr4:186082589 [GRCh38] Chr4:187003743 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) |
copy number gain |
not specified [RCV002053465] |
Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) |
copy number gain |
not specified [RCV002053471] |
Chr4:175855408..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) |
copy number loss |
not specified [RCV002053473] |
Chr4:183221828..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1010G>A (p.Ser337Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001967276] |
Chr4:186082696 [GRCh38] Chr4:187003850 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.287A>G (p.Gln96Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001928171] |
Chr4:186076906 [GRCh38] Chr4:186998060 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2176G>A (p.Glu726Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001889315] |
Chr4:186083862 [GRCh38] Chr4:187005016 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.752G>C (p.Arg251Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001894252] |
Chr4:186082438 [GRCh38] Chr4:187003592 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2553C>G (p.Phe851Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001911018] |
Chr4:186084711 [GRCh38] Chr4:187005865 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1571A>T (p.Asp524Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001889642] |
Chr4:186083257 [GRCh38] Chr4:187004411 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2072T>C (p.Phe691Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001913010] |
Chr4:186083758 [GRCh38] Chr4:187004912 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387) |
copy number gain |
not specified [RCV002053476] |
Chr4:185978583..188762387 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473) |
copy number loss |
not specified [RCV002053475] |
Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186686044-190842022) |
copy number gain |
not specified [RCV002053478] |
Chr4:186686044..190842022 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_003265.3(TLR3):c.2324C>T (p.Ser775Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001984274] |
Chr4:186084010 [GRCh38] Chr4:187005164 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1498T>C (p.Ser500Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001872571] |
Chr4:186083184 [GRCh38] Chr4:187004338 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1873G>A (p.Val625Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001969554] |
Chr4:186083559 [GRCh38] Chr4:187004713 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.256A>T (p.Thr86Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002038889] |
Chr4:186076875 [GRCh38] Chr4:186998029 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1517G>A (p.Arg506His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001876455] |
Chr4:186083203 [GRCh38] Chr4:187004357 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2252_2255del (p.Thr751fs) |
microsatellite |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001957627] |
Chr4:186083927..186083930 [GRCh38] Chr4:187005081..187005084 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1275T>G (p.Asp425Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001944238] |
Chr4:186082961 [GRCh38] Chr4:187004115 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2198A>G (p.Tyr733Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001900854] |
Chr4:186083884 [GRCh38] Chr4:187005038 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1864A>G (p.Ile622Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002036985] |
Chr4:186083550 [GRCh38] Chr4:187004704 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.338A>C (p.Gln113Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002033274] |
Chr4:186076957 [GRCh38] Chr4:186998111 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1251T>A (p.Asn417Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001963537] |
Chr4:186082937 [GRCh38] Chr4:187004091 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2687C>T (p.Ala896Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001883204] |
Chr4:186084845 [GRCh38] Chr4:187005999 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.106_129del (p.Asp36_Thr43del) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001963608] |
Chr4:186076723..186076746 [GRCh38] Chr4:186997877..186997900 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1462C>T (p.Arg488Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001962810] |
Chr4:186083148 [GRCh38] Chr4:187004302 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2147T>C (p.Phe716Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001989541] |
Chr4:186083833 [GRCh38] Chr4:187004987 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.256A>G (p.Thr86Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002048042] |
Chr4:186076875 [GRCh38] Chr4:186998029 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.38G>A (p.Gly13Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002028990] |
Chr4:186076657 [GRCh38] Chr4:186997811 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2158G>T (p.Val720Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001916050] |
Chr4:186083844 [GRCh38] Chr4:187004998 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.298A>T (p.Met100Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001877217] |
Chr4:186076917 [GRCh38] Chr4:186998071 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.991C>T (p.Arg331Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001901913] |
Chr4:186082677 [GRCh38] Chr4:187003831 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2530C>G (p.Leu844Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001937926] |
Chr4:186084688 [GRCh38] Chr4:187005842 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186064527)_(187630981_?)del |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001877781]|not provided [RCV003120734] |
Chr4:186064527..187630981 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_003265.3(TLR3):c.535T>G (p.Ser179Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002029715] |
Chr4:186078933 [GRCh38] Chr4:187000087 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2642T>C (p.Val881Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002027355] |
Chr4:186084800 [GRCh38] Chr4:187005954 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.139G>A (p.Asp47Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001935682]|TLR3-related disorder [RCV003948818] |
Chr4:186076758 [GRCh38] Chr4:186997912 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.140A>T (p.Asp47Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001886061]|not specified [RCV004041081] |
Chr4:186076759 [GRCh38] Chr4:186997913 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186423448)_(187630981_?)dup |
duplication |
not provided [RCV001982176] |
Chr4:186423448..187630981 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_003265.3(TLR3):c.952T>A (p.Leu318Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002018032] |
Chr4:186082638 [GRCh38] Chr4:187003792 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2487-18A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001902650] |
Chr4:186084627 [GRCh38] Chr4:187005781 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
NM_003265.3(TLR3):c.1708G>A (p.Glu570Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001958538] |
Chr4:186083394 [GRCh38] Chr4:187004548 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.369G>A (p.Thr123=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002185971] |
Chr4:186076988 [GRCh38] Chr4:186998142 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.975G>A (p.Arg325=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002165172] |
Chr4:186082661 [GRCh38] Chr4:187003815 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.555G>C (p.Ala185=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002170052] |
Chr4:186078953 [GRCh38] Chr4:187000107 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2487-15C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002147162] |
Chr4:186084630 [GRCh38] Chr4:187005784 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2364G>T (p.Leu788=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002106238] |
Chr4:186084050 [GRCh38] Chr4:187005204 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1714A>G (p.Asn572Asp) |
single nucleotide variant |
not provided [RCV002224678] |
Chr4:186083400 [GRCh38] Chr4:187004554 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.193A>C (p.Arg65=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002129527] |
Chr4:186076812 [GRCh38] Chr4:186997966 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1974T>G (p.Val658=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002071138] |
Chr4:186083660 [GRCh38] Chr4:187004814 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2487-17T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002111582] |
Chr4:186084628 [GRCh38] Chr4:187005782 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1644C>T (p.His548=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002165037] |
Chr4:186083330 [GRCh38] Chr4:187004484 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2328A>G (p.Ser776=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002215785]|TLR3-related disorder [RCV003893216] |
Chr4:186084014 [GRCh38] Chr4:187005168 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1713C>T (p.Ser571=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002088878] |
Chr4:186083399 [GRCh38] Chr4:187004553 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.972G>A (p.Val324=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002171495] |
Chr4:186082658 [GRCh38] Chr4:187003812 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.144T>C (p.Asp48=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002086059] |
Chr4:186076763 [GRCh38] Chr4:186997917 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.634-12del |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002152669] |
Chr4:186082300 [GRCh38] Chr4:187003454 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.915A>G (p.Leu305=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002205492] |
Chr4:186082601 [GRCh38] Chr4:187003755 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2007T>C (p.Pro669=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002114081] |
Chr4:186083693 [GRCh38] Chr4:187004847 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.174T>C (p.Leu58=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002170671] |
Chr4:186076793 [GRCh38] Chr4:186997947 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.441+3A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002111686]|not provided [RCV003438946] |
Chr4:186077063 [GRCh38] Chr4:186998217 [GRCh37] Chr4:4q35.1 |
likely benign|uncertain significance |
NM_003265.3(TLR3):c.2292T>C (p.Tyr764=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002194486] |
Chr4:186083978 [GRCh38] Chr4:187005132 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2487-7dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002116147] |
Chr4:186084631..186084632 [GRCh38] Chr4:187005785..187005786 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.2655G>T (p.Arg885=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002160670] |
Chr4:186084813 [GRCh38] Chr4:187005967 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.873C>T (p.Asn291=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002161621] |
Chr4:186082559 [GRCh38] Chr4:187003713 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.177C>T (p.Thr59=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002143497] |
Chr4:186076796 [GRCh38] Chr4:186997950 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.765G>A (p.Leu255=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002101589] |
Chr4:186082451 [GRCh38] Chr4:187003605 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2455C>T (p.His819Tyr) |
single nucleotide variant |
See cases [RCV004584473]|not provided [RCV003434451] |
Chr4:186084141 [GRCh38] Chr4:187005295 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.333A>C (p.Leu111=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002217214] |
Chr4:186076952 [GRCh38] Chr4:186998106 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.360C>T (p.Ala120=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002100728] |
Chr4:186076979 [GRCh38] Chr4:186998133 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1552A>T (p.Ile518Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003118384] |
Chr4:186083238 [GRCh38] Chr4:187004392 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1911G>A (p.Leu637=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003120002] |
Chr4:186083597 [GRCh38] Chr4:187004751 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.233C>A (p.Thr78Asn) |
single nucleotide variant |
not specified [RCV004684150] |
Chr4:186076852 [GRCh38] Chr4:186998006 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2668C>T (p.Arg890Cys) |
single nucleotide variant |
not specified [RCV004684149] |
Chr4:186084826 [GRCh38] Chr4:187005980 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1 |
copy number loss |
See cases [RCV002292211] |
Chr4:185211271..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 |
copy number loss |
FETAL DEMISE [RCV002282976] |
Chr4:174944132..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 |
copy number loss |
See cases [RCV002292706] |
Chr4:167779888..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 |
copy number loss |
See cases [RCV002292401] |
Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3 |
copy number gain |
Craniofacial microsomia 1 [RCV002281676] |
Chr4:186473718..187912600 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_003265.3(TLR3):c.1163A>C (p.Asn388Thr) |
single nucleotide variant |
not specified [RCV004303394] |
Chr4:186082849 [GRCh38] Chr4:187004003 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1 |
copy number loss |
not provided [RCV002472580] |
Chr4:185748860..188413920 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1521C>A (p.Asn507Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002301563] |
Chr4:186083207 [GRCh38] Chr4:187004361 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1408C>A (p.Gln470Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002304731] |
Chr4:186083094 [GRCh38] Chr4:187004248 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1181G>T (p.Arg394Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002301857] |
Chr4:186082867 [GRCh38] Chr4:187004021 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1124T>C (p.Phe375Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002299041] |
Chr4:186082810 [GRCh38] Chr4:187003964 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.539A>G (p.Asn180Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002302267] |
Chr4:186078937 [GRCh38] Chr4:187000091 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1987G>C (p.Glu663Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002299881] |
Chr4:186083673 [GRCh38] Chr4:187004827 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1930T>C (p.Phe644Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002301858] |
Chr4:186083616 [GRCh38] Chr4:187004770 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.154A>G (p.Asn52Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002970937] |
Chr4:186076773 [GRCh38] Chr4:186997927 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2166C>T (p.Leu722=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002750150] |
Chr4:186083852 [GRCh38] Chr4:187005006 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2095A>G (p.Ser699Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003033062] |
Chr4:186083781 [GRCh38] Chr4:187004935 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1737T>C (p.Val579=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002903084] |
Chr4:186083423 [GRCh38] Chr4:187004577 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.968A>G (p.Asn323Ser) |
single nucleotide variant |
not specified [RCV004140620] |
Chr4:186082654 [GRCh38] Chr4:187003808 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2472C>T (p.Asp824=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002967440] |
Chr4:186084158 [GRCh38] Chr4:187005312 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2623T>A (p.Cys875Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603147]|not specified [RCV004239803] |
Chr4:186084781 [GRCh38] Chr4:187005935 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2127T>C (p.Asn709=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003016321] |
Chr4:186083813 [GRCh38] Chr4:187004967 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2432G>A (p.Arg811Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002975481] |
Chr4:186084118 [GRCh38] Chr4:187005272 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003017265] |
Chr4:186084000 [GRCh38] Chr4:187005154 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.742A>G (p.Thr248Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002756219] |
Chr4:186082428 [GRCh38] Chr4:187003582 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1606G>A (p.Asp536Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002774847] |
Chr4:186083292 [GRCh38] Chr4:187004446 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1177T>C (p.Leu393=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002727112] |
Chr4:186082863 [GRCh38] Chr4:187004017 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1717G>A (p.Gly573Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603139]|not specified [RCV004126731] |
Chr4:186083403 [GRCh38] Chr4:187004557 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.338_339del (p.Gln113fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002903376] |
Chr4:186076957..186076958 [GRCh38] Chr4:186998111..186998112 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.520C>G (p.Gln174Glu) |
single nucleotide variant |
not specified [RCV004106237] |
Chr4:186078918 [GRCh38] Chr4:187000072 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1035G>A (p.Lys345=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003074819] |
Chr4:186082721 [GRCh38] Chr4:187003875 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1787A>G (p.Asn596Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002755965] |
Chr4:186083473 [GRCh38] Chr4:187004627 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2258A>T (p.Gln753Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003016607] |
Chr4:186083944 [GRCh38] Chr4:187005098 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1617T>C (p.His539=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003076102] |
Chr4:186083303 [GRCh38] Chr4:187004457 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.38G>C (p.Gly13Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002761639] |
Chr4:186076657 [GRCh38] Chr4:186997811 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1489A>C (p.Ser497Arg) |
single nucleotide variant |
not specified [RCV004169986] |
Chr4:186083175 [GRCh38] Chr4:187004329 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1997C>G (p.Thr666Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002638704] |
Chr4:186083683 [GRCh38] Chr4:187004837 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2669G>C (p.Arg890Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002736589] |
Chr4:186084827 [GRCh38] Chr4:187005981 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2122A>G (p.Ile708Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002760863] |
Chr4:186083808 [GRCh38] Chr4:187004962 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.330G>A (p.Glu110=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003019847] |
Chr4:186076949 [GRCh38] Chr4:186998103 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.13_14del (p.Leu5fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002735910] |
Chr4:186076631..186076632 [GRCh38] Chr4:186997785..186997786 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.442-16T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003038013] |
Chr4:186078824 [GRCh38] Chr4:186999978 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1025C>T (p.Ser342Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002705248] |
Chr4:186082711 [GRCh38] Chr4:187003865 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1879AAG[1] (p.Lys628del) |
microsatellite |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003077665] |
Chr4:186083563..186083565 [GRCh38] Chr4:187004717..187004719 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1698C>T (p.Ile566=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003080809] |
Chr4:186083384 [GRCh38] Chr4:187004538 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2487-8T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002761169] |
Chr4:186084637 [GRCh38] Chr4:187005791 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.752G>A (p.Arg251Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002824023] |
Chr4:186082438 [GRCh38] Chr4:187003592 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2501A>T (p.His834Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002927158] |
Chr4:186084659 [GRCh38] Chr4:187005813 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1180C>T (p.Arg394Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002913927] |
Chr4:186082866 [GRCh38] Chr4:187004020 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2278A>G (p.Ile760Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002620498] |
Chr4:186083964 [GRCh38] Chr4:187005118 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1950G>A (p.Thr650=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002638574] |
Chr4:186083636 [GRCh38] Chr4:187004790 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2399T>C (p.Leu800Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002658559] |
Chr4:186084085 [GRCh38] Chr4:187005239 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2394del (p.Phe798fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003085787]|Immunodeficiency 83, susceptibility to viral infections [RCV004577028] |
Chr4:186084076 [GRCh38] Chr4:187005230 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.298A>G (p.Met100Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002766356] |
Chr4:186076917 [GRCh38] Chr4:186998071 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2194T>C (p.Phe732Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003085924] |
Chr4:186083880 [GRCh38] Chr4:187005034 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.751C>T (p.Arg251Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002805524] |
Chr4:186082437 [GRCh38] Chr4:187003591 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.543T>C (p.Asn181=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003008114] |
Chr4:186078941 [GRCh38] Chr4:187000095 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.411A>G (p.Lys137=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002917306] |
Chr4:186077030 [GRCh38] Chr4:186998184 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.552A>C (p.Gln184His) |
single nucleotide variant |
not specified [RCV004147724] |
Chr4:186078950 [GRCh38] Chr4:187000104 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.442-3C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002711329] |
Chr4:186078837 [GRCh38] Chr4:186999991 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1340T>A (p.Leu447His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002623878] |
Chr4:186083026 [GRCh38] Chr4:187004180 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2269_2270insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAACAGTTTGAATATG (p.Ala757fs) |
insertion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003024948] |
Chr4:186083938..186083939 [GRCh38] Chr4:187005092..187005093 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1872C>T (p.Ser624=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002932178] |
Chr4:186083558 [GRCh38] Chr4:187004712 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1995T>C (p.His665=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002829979] |
Chr4:186083681 [GRCh38] Chr4:187004835 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.33G>C (p.Trp11Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003067728]|not specified [RCV004071670] |
Chr4:186076652 [GRCh38] Chr4:186997806 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1947C>T (p.Cys649=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002700485] |
Chr4:186083633 [GRCh38] Chr4:187004787 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1025C>A (p.Ser342Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002574047] |
Chr4:186082711 [GRCh38] Chr4:187003865 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.906T>C (p.Tyr302=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003042491] |
Chr4:186082592 [GRCh38] Chr4:187003746 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1977T>C (p.Asn659=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002871676] |
Chr4:186083663 [GRCh38] Chr4:187004817 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.157A>G (p.Ile53Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002712149] |
Chr4:186076776 [GRCh38] Chr4:186997930 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1569T>A (p.Asp523Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003028773] |
Chr4:186083255 [GRCh38] Chr4:187004409 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1681C>T (p.Leu561=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002720028] |
Chr4:186083367 [GRCh38] Chr4:187004521 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1902C>T (p.Phe634=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002811668] |
Chr4:186083588 [GRCh38] Chr4:187004742 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1819A>G (p.Asn607Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003090159] |
Chr4:186083505 [GRCh38] Chr4:187004659 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.848A>G (p.Tyr283Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002581812] |
Chr4:186082534 [GRCh38] Chr4:187003688 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1747A>C (p.Lys583Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002720817] |
Chr4:186083433 [GRCh38] Chr4:187004587 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1265T>C (p.Ile422Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003009942] |
Chr4:186082951 [GRCh38] Chr4:187004105 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1220C>T (p.Ser407Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002600172] |
Chr4:186082906 [GRCh38] Chr4:187004060 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1949C>G (p.Thr650Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003026294] |
Chr4:186083635 [GRCh38] Chr4:187004789 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.938T>G (p.Leu313Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002806212] |
Chr4:186082624 [GRCh38] Chr4:187003778 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2543T>C (p.Ile848Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003086560] |
Chr4:186084701 [GRCh38] Chr4:187005855 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1501C>T (p.Pro501Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003064898] |
Chr4:186083187 [GRCh38] Chr4:187004341 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.555G>A (p.Ala185=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002647882] |
Chr4:186078953 [GRCh38] Chr4:187000107 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2156T>C (p.Ile719Thr) |
single nucleotide variant |
not specified [RCV004173634] |
Chr4:186083842 [GRCh38] Chr4:187004996 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.965del (p.Phe322fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003048652] |
Chr4:186082648 [GRCh38] Chr4:187003802 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1118A>C (p.Asn373Thr) |
single nucleotide variant |
not specified [RCV004134550] |
Chr4:186082804 [GRCh38] Chr4:187003958 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1561A>G (p.Ile521Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002770260] |
Chr4:186083247 [GRCh38] Chr4:187004401 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1037T>C (p.Ile346Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002715185] |
Chr4:186082723 [GRCh38] Chr4:187003877 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.33G>T (p.Trp11Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002962107] |
Chr4:186076652 [GRCh38] Chr4:186997806 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1763T>A (p.Leu588Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003048596] |
Chr4:186083449 [GRCh38] Chr4:187004603 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1811C>T (p.Ser604Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003051722] |
Chr4:186083497 [GRCh38] Chr4:187004651 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.90T>C (p.Val30=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003068837] |
Chr4:186076709 [GRCh38] Chr4:186997863 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1847A>C (p.Asn616Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003069349] |
Chr4:186083533 [GRCh38] Chr4:187004687 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2090A>G (p.Lys697Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003092851] |
Chr4:186083776 [GRCh38] Chr4:187004930 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2054G>A (p.Gly685Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003092474] |
Chr4:186083740 [GRCh38] Chr4:187004894 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1691T>G (p.Leu564Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV002943809] |
Chr4:186083377 [GRCh38] Chr4:187004531 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.634-18T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003068628] |
Chr4:186082302 [GRCh38] Chr4:187003456 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.335C>T (p.Ser112Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003052180] |
Chr4:186076954 [GRCh38] Chr4:186998108 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.662G>T (p.Gly221Val) |
single nucleotide variant |
not specified [RCV004280632] |
Chr4:186082348 [GRCh38] Chr4:187003502 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.493G>A (p.Gly165Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497980]|not specified [RCV004267685] |
Chr4:186078891 [GRCh38] Chr4:187000045 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.613T>A (p.Ser205Thr) |
single nucleotide variant |
not specified [RCV004274760] |
Chr4:186079011 [GRCh38] Chr4:187000165 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1022C>A (p.Ala341Asp) |
single nucleotide variant |
not specified [RCV004267352] |
Chr4:186082708 [GRCh38] Chr4:187003862 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1873G>T (p.Val625Phe) |
single nucleotide variant |
Immunodeficiency 83, susceptibility to viral infections [RCV003338178] |
Chr4:186083559 [GRCh38] Chr4:187004713 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.89T>G (p.Val30Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003873093] |
Chr4:186076708 [GRCh38] Chr4:186997862 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2486+14G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003881182] |
Chr4:186084186 [GRCh38] Chr4:187005340 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.959G>A (p.Gly320Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604152] |
Chr4:186082645 [GRCh38] Chr4:187003799 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1 |
copy number loss |
not provided [RCV003485444] |
Chr4:186805036..188558860 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448667] |
Chr4:180937545..190915069 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:186950483-187201211)x1 |
copy number loss |
not provided [RCV003485445] |
Chr4:186950483..187201211 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_003265.3(TLR3):c.2486+50T>C |
single nucleotide variant |
not specified [RCV003488867] |
Chr4:186084222 [GRCh38] Chr4:187005376 [GRCh37] Chr4:4q35.1 |
benign |
NM_003265.3(TLR3):c.415A>C (p.Lys139Gln) |
single nucleotide variant |
TLR3-related disorder [RCV003418923] |
Chr4:186077034 [GRCh38] Chr4:186998188 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 |
copy number gain |
not provided [RCV003484595] |
Chr4:167409608..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_003265.3(TLR3):c.2215C>A (p.His739Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498008]|not provided [RCV003435219]|not specified [RCV004364600] |
Chr4:186083901 [GRCh38] Chr4:187005055 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1645G>A (p.Ala549Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498003]|TLR3-related disorder [RCV003410699] |
Chr4:186083331 [GRCh38] Chr4:187004485 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1478A>G (p.Lys493Arg) |
single nucleotide variant |
TLR3-related disorder [RCV003410756] |
Chr4:186083164 [GRCh38] Chr4:187004318 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.528T>G (p.Leu176=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603221] |
Chr4:186078926 [GRCh38] Chr4:187000080 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.563G>A (p.Ser188Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603262] |
Chr4:186078961 [GRCh38] Chr4:187000115 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.180T>A (p.His60Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604211]|not specified [RCV004371669] |
Chr4:186076799 [GRCh38] Chr4:186997953 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.898C>G (p.Leu300Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604390] |
Chr4:186082584 [GRCh38] Chr4:187003738 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604647] |
Chr4:186083241 [GRCh38] Chr4:187004395 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1159T>A (p.Ser387Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003602748] |
Chr4:186082845 [GRCh38] Chr4:187003999 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.460C>T (p.Leu154=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003831635]|TLR3-related disorder [RCV003893479] |
Chr4:186078858 [GRCh38] Chr4:187000012 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2268T>C (p.Tyr756=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603692] |
Chr4:186083954 [GRCh38] Chr4:187005108 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2669G>A (p.Arg890His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003605011] |
Chr4:186084827 [GRCh38] Chr4:187005981 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1271G>A (p.Ser424Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603237] |
Chr4:186082957 [GRCh38] Chr4:187004111 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2257C>A (p.Gln753Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603765] |
Chr4:186083943 [GRCh38] Chr4:187005097 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1336G>A (p.Glu446Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003605058] |
Chr4:186083022 [GRCh38] Chr4:187004176 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1044T>C (p.Asp348=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003602623] |
Chr4:186082730 [GRCh38] Chr4:187003884 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.421A>G (p.Asn141Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003602709] |
Chr4:186077040 [GRCh38] Chr4:186998194 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.674G>A (p.Gly225Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604643] |
Chr4:186082360 [GRCh38] Chr4:187003514 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2517T>G (p.Ala839=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003877123] |
Chr4:186084675 [GRCh38] Chr4:187005829 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1119T>C (p.Asn373=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604583] |
Chr4:186082805 [GRCh38] Chr4:187003959 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1980G>A (p.Trp660Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604463] |
Chr4:186083666 [GRCh38] Chr4:187004820 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2110C>T (p.Leu704Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003829961] |
Chr4:186083796 [GRCh38] Chr4:187004950 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.441G>A (p.Lys147=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604023] |
Chr4:186077060 [GRCh38] Chr4:186998214 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.632A>T (p.Glu211Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603763] |
Chr4:186079030 [GRCh38] Chr4:187000184 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.753G>C (p.Arg251=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604497] |
Chr4:186082439 [GRCh38] Chr4:187003593 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1991C>A (p.Thr664Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604430] |
Chr4:186083677 [GRCh38] Chr4:187004831 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.32G>T (p.Trp11Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603958] |
Chr4:186076651 [GRCh38] Chr4:186997805 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2498A>T (p.His833Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604584] |
Chr4:186084656 [GRCh38] Chr4:187005810 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.522A>C (p.Gln174His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604596] |
Chr4:186078920 [GRCh38] Chr4:187000074 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1929C>T (p.Arg643=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604066] |
Chr4:186083615 [GRCh38] Chr4:187004769 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2184G>A (p.Trp728Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604777] |
Chr4:186083870 [GRCh38] Chr4:187005024 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1239C>A (p.Asn413Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003604853] |
Chr4:186082925 [GRCh38] Chr4:187004079 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1923T>C (p.Asp641=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603710] |
Chr4:186083609 [GRCh38] Chr4:187004763 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1318C>T (p.Leu440Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003832788] |
Chr4:186083004 [GRCh38] Chr4:187004158 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1805C>T (p.Pro602Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497586] |
Chr4:186083491 [GRCh38] Chr4:187004645 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1461C>T (p.Leu487=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497568] |
Chr4:186083147 [GRCh38] Chr4:187004301 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.442-7C>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603402] |
Chr4:186078833 [GRCh38] Chr4:186999987 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2682A>G (p.Gln894=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498923] |
Chr4:186084840 [GRCh38] Chr4:187005994 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.488A>C (p.Lys163Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499039] |
Chr4:186078886 [GRCh38] Chr4:187000040 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2703C>G (p.Asn901Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498677] |
Chr4:186084861 [GRCh38] Chr4:187006015 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2608A>T (p.Met870Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499452] |
Chr4:186084766 [GRCh38] Chr4:187005920 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1551C>T (p.Asn517=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498740] |
Chr4:186083237 [GRCh38] Chr4:187004391 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2348C>T (p.Ser783Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003603453] |
Chr4:186084034 [GRCh38] Chr4:187005188 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2340A>C (p.Glu780Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003855081] |
Chr4:186084026 [GRCh38] Chr4:187005180 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.847T>C (p.Tyr283His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003810673] |
Chr4:186082533 [GRCh38] Chr4:187003687 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.894A>T (p.Pro298=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498565] |
Chr4:186082580 [GRCh38] Chr4:187003734 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.813A>G (p.Leu271=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499992] |
Chr4:186082499 [GRCh38] Chr4:187003653 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1925T>C (p.Met642Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499256] |
Chr4:186083611 [GRCh38] Chr4:187004765 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2092G>A (p.Asp698Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499712] |
Chr4:186083778 [GRCh38] Chr4:187004932 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2409T>C (p.Ile803=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497545] |
Chr4:186084095 [GRCh38] Chr4:187005249 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1172C>T (p.Thr391Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499815] |
Chr4:186082858 [GRCh38] Chr4:187004012 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.61T>C (p.Cys21Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003838030] |
Chr4:186076680 [GRCh38] Chr4:186997834 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1141dup (p.Leu381fs) |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499352] |
Chr4:186082825..186082826 [GRCh38] Chr4:187003979..187003980 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1732C>T (p.Pro578Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499978] |
Chr4:186083418 [GRCh38] Chr4:187004572 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1149C>T (p.Tyr383=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497400] |
Chr4:186082835 [GRCh38] Chr4:187003989 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.243T>C (p.Asp81=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497795] |
Chr4:186076862 [GRCh38] Chr4:186998016 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.526C>T (p.Leu176Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003497757] |
Chr4:186078924 [GRCh38] Chr4:187000078 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003839022] |
Chr4:186083601 [GRCh38] Chr4:187004755 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.441+1G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498355] |
Chr4:186077061 [GRCh38] Chr4:186998215 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.789C>G (p.Thr263=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003813951] |
Chr4:186082475 [GRCh38] Chr4:187003629 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.2238A>C (p.Glu746Asp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003498830] |
Chr4:186083924 [GRCh38] Chr4:187005078 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1148A>T (p.Tyr383Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499255] |
Chr4:186082834 [GRCh38] Chr4:187003988 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1061T>G (p.Leu354Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499357] |
Chr4:186082747 [GRCh38] Chr4:187003901 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1637G>A (p.Trp546Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003499463] |
Chr4:186083323 [GRCh38] Chr4:187004477 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1A>G (p.Met1Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003847047] |
Chr4:186076620 [GRCh38] Chr4:186997774 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 |
copy number loss |
not specified [RCV003986532] |
Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NM_003265.3(TLR3):c.2204A>G (p.Asn735Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003871217] |
Chr4:186083890 [GRCh38] Chr4:187005044 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 |
copy number gain |
not specified [RCV003986496] |
Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 |
copy number gain |
not specified [RCV003986533] |
Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2 |
pathogenic |
NM_003265.3(TLR3):c.1830G>A (p.Val610=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003870062] |
Chr4:186083516 [GRCh38] Chr4:187004670 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_003265.3(TLR3):c.1261A>G (p.Lys421Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003868115] |
Chr4:186082947 [GRCh38] Chr4:187004101 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2180G>C (p.Gly727Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003865741] |
Chr4:186083866 [GRCh38] Chr4:187005020 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.395C>G (p.Ser132Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003864431] |
Chr4:186077014 [GRCh38] Chr4:186998168 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2661T>A (p.Gly887=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 1 [RCV003861890] |
Chr4:186084819 [GRCh38] Chr4:187005973 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 |
copy number loss |
not provided [RCV003885510] |
Chr4:169060637..191154276 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_003265.3(TLR3):c.1016C>G (p.Ser339Cys) |
single nucleotide variant |
not specified [RCV004470336] |
Chr4:186082702 [GRCh38] Chr4:187003856 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1835T>C (p.Leu612Pro) |
single nucleotide variant |
not specified [RCV004470337] |
Chr4:186083521 [GRCh38] Chr4:187004675 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.2077dup (p.Thr693fs) |
duplication |
Immunodeficiency 83, susceptibility to viral infections [RCV004577283] |
Chr4:186083762..186083763 [GRCh38] Chr4:187004916..187004917 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_003265.3(TLR3):c.1942G>C (p.Asp648His) |
single nucleotide variant |
not specified [RCV004472405] |
Chr4:186083628 [GRCh38] Chr4:187004782 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186064502)_(187630981_?)dup |
duplication |
not provided [RCV004580822] |
Chr4:186064502..187630981 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NC_000004.11:g.(?_186997774)_(187000205_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV004580774] |
Chr4:186997774..187000205 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NC_000004.11:g.(?_186997774)_(187006027_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV004580773] |
Chr4:186997774..187006027 [GRCh37] Chr4:4q35.1 |
uncertain significance |