| GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 |
copy number loss |
not provided [RCV000847188] |
Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000030822]|TRAF3-related condition [RCV003952376]|not provided [RCV003407376] |
Chr14:102875678 [GRCh38]
Chr14:103342015 [GRCh37]
Chr14:14q32.32 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 |
copy number loss |
See cases [RCV000050938] |
Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 |
copy number loss |
See cases [RCV000050696] |
Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 |
copy number loss |
See cases [RCV000051578] |
Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 |
copy number loss |
See cases [RCV000051579] |
Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 |
copy number loss |
See cases [RCV000051580] |
Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] |
Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 |
copy number loss |
See cases [RCV000051113] |
Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33 |
pathogenic |
| GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] |
Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33 |
pathogenic |
| GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 |
copy number gain |
See cases [RCV000052296] |
Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 |
copy number loss |
See cases [RCV000133831] |
Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 |
copy number gain |
See cases [RCV000135410] |
Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 |
copy number gain |
See cases [RCV000135400] |
Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 |
copy number gain |
See cases [RCV000135875] |
Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 |
copy number gain |
See cases [RCV000135896] |
Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33 |
pathogenic |
| GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 |
copy number loss |
See cases [RCV000136032] |
Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33 |
pathogenic |
| GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 |
copy number loss |
See cases [RCV000139633] |
Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 |
copy number loss |
See cases [RCV000141932] |
Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 |
copy number loss |
See cases [RCV000142453] |
Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 |
copy number loss |
See cases [RCV000143154] |
Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 |
copy number loss |
See cases [RCV000143662] |
Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.189G>A (p.Pro63=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000544904]|TRAF3-related condition [RCV003915606] |
Chr14:102870390 [GRCh38]
Chr14:103336727 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.449G>A (p.Arg150His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650554]|TRAF3-related condition [RCV003939913]|not specified [RCV000238904] |
Chr14:102876404 [GRCh38]
Chr14:103342741 [GRCh37]
Chr14:14q32.32 |
benign|uncertain significance |
| NM_145725.3(TRAF3):c.1254C>T (p.Leu418=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000529994] |
Chr14:102905331 [GRCh38]
Chr14:103371668 [GRCh37]
Chr14:14q32.32 |
likely benign |
| GRCh37/hg19 14q32.32(chr14:103265633-103470073)x1 |
copy number loss |
See cases [RCV000449318] |
Chr14:103265633..103470073 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 |
copy number gain |
See cases [RCV000446497] |
Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33 |
likely pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33 |
pathogenic |
| GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 |
copy number loss |
See cases [RCV000510629] |
Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg) |
single nucleotide variant |
Ependymoma [RCV000577847] |
Chr14:102870254 [GRCh38]
Chr14:103336591 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:102801442-103358115)x3 |
copy number gain |
See cases [RCV000511027] |
Chr14:102801442..103358115 [GRCh37]
Chr14:14q32.31-32.32 |
uncertain significance |
| GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 |
copy number loss |
See cases [RCV000511171] |
Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 |
copy number loss |
See cases [RCV000511173] |
Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.245+10_245+21del |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000559433] |
Chr14:102870454..102870465 [GRCh38]
Chr14:103336791..103336802 [GRCh37]
Chr14:14q32.32 |
benign |
| NC_000014.9:g.(?_102870182)_(102930700_?)del |
deletion |
Imerslund-Grasbeck syndrome [RCV000638880] |
Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32 |
pathogenic |
| NM_145725.3(TRAF3):c.727-5C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001511226] |
Chr14:102891320 [GRCh38]
Chr14:103357657 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1110C>T (p.Ser370=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000556361] |
Chr14:102903404 [GRCh38]
Chr14:103369741 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.856_857del (p.Lys286fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650551] |
Chr14:102897297..102897298 [GRCh38]
Chr14:103363634..103363635 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1509C>T (p.Ser503=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650552]|not provided [RCV001702709] |
Chr14:102905586 [GRCh38]
Chr14:103371923 [GRCh37]
Chr14:14q32.32 |
benign|likely benign |
| NM_145725.3(TRAF3):c.165G>A (p.Lys55=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650553] |
Chr14:102870366 [GRCh38]
Chr14:103336703 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1323C>T (p.Tyr441=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650555] |
Chr14:102905400 [GRCh38]
Chr14:103371737 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.727-7C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001484683] |
Chr14:102891318 [GRCh38]
Chr14:103357655 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NC_000014.8:g.(?_103336519)_(103397037_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000650557] |
Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1544A>G (p.Asp515Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003277064] |
Chr14:102905621 [GRCh38]
Chr14:103371958 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33 |
pathogenic |
| GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 |
copy number gain |
not provided [RCV000683623] |
Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.676G>T (p.Val226Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000686367] |
Chr14:102889584 [GRCh38]
Chr14:103355921 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1200C>A (p.Ala400=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000694603] |
Chr14:102905277 [GRCh38]
Chr14:103371614 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.199G>A (p.Glu67Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000704905] |
Chr14:102870400 [GRCh38]
Chr14:103336737 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.962G>A (p.Arg321Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000689590] |
Chr14:102903256 [GRCh38]
Chr14:103369593 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.487C>T (p.Arg163Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000691548] |
Chr14:102876442 [GRCh38]
Chr14:103342779 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.488G>A (p.Arg163Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000691750] |
Chr14:102876443 [GRCh38]
Chr14:103342780 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) |
copy number gain |
not provided [RCV000767752] |
Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q32.32(chr14:103242725-103244346)x1 |
copy number loss |
not provided [RCV000738595] |
Chr14:103242725..103244346 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103242725-103244575)x1 |
copy number loss |
not provided [RCV000738596] |
Chr14:103242725..103244575 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103243339-103244448)x1 |
copy number loss |
not provided [RCV000738597] |
Chr14:103243339..103244448 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103243339-103244522)x1 |
copy number loss |
not provided [RCV000738598] |
Chr14:103243339..103244522 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103243339-103244575)x1 |
copy number loss |
not provided [RCV000738599] |
Chr14:103243339..103244575 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103243875-103244448)x0 |
copy number loss |
not provided [RCV000738600] |
Chr14:103243875..103244448 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103243875-103244575)x1 |
copy number loss |
not provided [RCV000738601] |
Chr14:103243875..103244575 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1 |
copy number loss |
not provided [RCV000751121] |
Chr14:102423214..103518117 [GRCh37]
Chr14:14q32.31-32.32 |
likely pathogenic |
| GRCh37/hg19 14q32.32(chr14:103238458-103244575)x1 |
copy number loss |
not provided [RCV000751124] |
Chr14:103238458..103244575 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.32(chr14:103238458-103261300)x0 |
copy number loss |
not provided [RCV000751125] |
Chr14:103238458..103261300 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 |
copy number loss |
not provided [RCV000848417] |
Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh37/hg19 14q32.32(chr14:103289590-103420739)x3 |
copy number gain |
not provided [RCV000762693] |
Chr14:103289590..103420739 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1376A>G (p.Tyr459Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001066726] |
Chr14:102905453 [GRCh38]
Chr14:103371790 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1099G>A (p.Val367Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001046127] |
Chr14:102903393 [GRCh38]
Chr14:103369730 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1194C>T (p.Arg398=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000884867]|TRAF3-related condition [RCV003930629]|not provided [RCV001702064] |
Chr14:102905271 [GRCh38]
Chr14:103371608 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1251G>T (p.Val417=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001473344] |
Chr14:102905328 [GRCh38]
Chr14:103371665 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1092G>A (p.Leu364=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000902906] |
Chr14:102903386 [GRCh38]
Chr14:103369723 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1296C>T (p.Ala432=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000970536] |
Chr14:102905373 [GRCh38]
Chr14:103371710 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1689G>A (p.Ser563=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000971225]|not provided [RCV003411918] |
Chr14:102905766 [GRCh38]
Chr14:103372103 [GRCh37]
Chr14:14q32.32 |
benign|likely benign |
| NM_145725.3(TRAF3):c.36G>A (p.Ala12=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001423345] |
Chr14:102870237 [GRCh38]
Chr14:103336574 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.42G>C (p.Gln14His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001038981] |
Chr14:102870243 [GRCh38]
Chr14:103336580 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1015C>G (p.Pro339Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001057400] |
Chr14:102903309 [GRCh38]
Chr14:103369646 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.245+6C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001054351] |
Chr14:102870452 [GRCh38]
Chr14:103336789 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.34G>A (p.Ala12Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001057503]|Inborn genetic diseases [RCV002553368] |
Chr14:102870235 [GRCh38]
Chr14:103336572 [GRCh37]
Chr14:14q32.32 |
likely benign|uncertain significance |
| NM_145725.3(TRAF3):c.819+4G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000970660] |
Chr14:102891421 [GRCh38]
Chr14:103357758 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.270G>A (p.Ala90=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000944528] |
Chr14:102871941 [GRCh38]
Chr14:103338278 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1200C>T (p.Ala400=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001466336] |
Chr14:102905277 [GRCh38]
Chr14:103371614 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.652-7G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000942802] |
Chr14:102889553 [GRCh38]
Chr14:103355890 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1021C>T (p.Arg341Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000796583] |
Chr14:102903315 [GRCh38]
Chr14:103369652 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.735C>A (p.Asn245Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000798246] |
Chr14:102891333 [GRCh38]
Chr14:103357670 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1425dup (p.Val476fs) |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000792641] |
Chr14:102905496..102905497 [GRCh38]
Chr14:103371833..103371834 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 |
copy number gain |
not provided [RCV000848687] |
Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33 |
pathogenic |
| GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 |
copy number gain |
not provided [RCV000849272] |
Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.1109G>A (p.Ser370Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000813628] |
Chr14:102903403 [GRCh38]
Chr14:103369740 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.297+6del |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000824047] |
Chr14:102871974 [GRCh38]
Chr14:103338311 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4 |
copy number gain |
not provided [RCV000848014] |
Chr14:102709744..103453834 [GRCh37]
Chr14:14q32.31-32.32 |
uncertain significance |
| NC_000014.8:g.(?_103355877)_(103395332_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000803917] |
Chr14:102889540..102928995 [GRCh38]
Chr14:103355877..103395332 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3 |
copy number gain |
not provided [RCV001006655] |
Chr14:102824097..103427144 [GRCh37]
Chr14:14q32.31-32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.806C>T (p.Ser269Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000818198] |
Chr14:102891404 [GRCh38]
Chr14:103357741 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:103148050-103521100)x3 |
copy number gain |
not provided [RCV000846594] |
Chr14:103148050..103521100 [GRCh37]
Chr14:14q32.31-32.32 |
uncertain significance |
| GRCh37/hg19 14q32.32(chr14:103361735-103422077)x3 |
copy number gain |
not provided [RCV000849423] |
Chr14:103361735..103422077 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 |
copy number loss |
not provided [RCV001006656] |
Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.1466delinsTTCCTTG (p.Pro489delinsLeuProTrp) |
indel |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001248264] |
Chr14:102905543 [GRCh38]
Chr14:103371880 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.568C>A (p.Gln190Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001209539] |
Chr14:102876523 [GRCh38]
Chr14:103342860 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.730A>T (p.Thr244Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001203219] |
Chr14:102891328 [GRCh38]
Chr14:103357665 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.124A>G (p.Lys42Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003106964] |
Chr14:102870325 [GRCh38]
Chr14:103336662 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NC_000014.8:g.(?_102228231)_(105861009_?)dup |
duplication |
Charcot-Marie-Tooth disease axonal type 2O [RCV003107389] |
Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33 |
uncertain significance |
| NM_145725.3(TRAF3):c.651+15G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001907608] |
Chr14:102886284 [GRCh38]
Chr14:103352621 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.402+7A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001464479] |
Chr14:102875735 [GRCh38]
Chr14:103342072 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1644T>C (p.Tyr548=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001437317] |
Chr14:102905721 [GRCh38]
Chr14:103372058 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.651+8C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000921867] |
Chr14:102886277 [GRCh38]
Chr14:103352614 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.270G>T (p.Ala90=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV000944137] |
Chr14:102871941 [GRCh38]
Chr14:103338278 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1112C>T (p.Ala371Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001205967] |
Chr14:102903406 [GRCh38]
Chr14:103369743 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.513del (p.Lys171fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001050608] |
Chr14:102876466 [GRCh38]
Chr14:103342803 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.74G>T (p.Arg25Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001070062] |
Chr14:102870275 [GRCh38]
Chr14:103336612 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.562G>A (p.Ala188Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001071810]|Inborn genetic diseases [RCV002554633] |
Chr14:102876517 [GRCh38]
Chr14:103342854 [GRCh37]
Chr14:14q32.32 |
likely benign|uncertain significance |
| NM_145725.3(TRAF3):c.188C>T (p.Pro63Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001208799] |
Chr14:102870389 [GRCh38]
Chr14:103336726 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.989T>C (p.Leu330Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001218919] |
Chr14:102903283 [GRCh38]
Chr14:103369620 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.269C>T (p.Ala90Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001201996]|Inborn genetic diseases [RCV002560294] |
Chr14:102871940 [GRCh38]
Chr14:103338277 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 |
copy number loss |
See cases [RCV001195078] |
Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.428T>G (p.Phe143Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001058142] |
Chr14:102876383 [GRCh38]
Chr14:103342720 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1634A>G (p.Asn545Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001058408] |
Chr14:102905711 [GRCh38]
Chr14:103372048 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.74G>A (p.Arg25His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001058429]|TRAF3-related condition [RCV003393826] |
Chr14:102870275 [GRCh38]
Chr14:103336612 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1616C>G (p.Ala539Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001211594] |
Chr14:102905693 [GRCh38]
Chr14:103372030 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.718G>A (p.Val240Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001035288] |
Chr14:102889626 [GRCh38]
Chr14:103355963 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.596G>T (p.Cys199Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001069828] |
Chr14:102886214 [GRCh38]
Chr14:103352551 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:102978837-103503417)x3 |
copy number gain |
not provided [RCV001259800] |
Chr14:102978837..103503417 [GRCh37]
Chr14:14q32.31-32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 |
copy number loss |
not provided [RCV001259801] |
Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.1591G>A (p.Ala531Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001324907] |
Chr14:102905668 [GRCh38]
Chr14:103372005 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.73C>T (p.Arg25Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001350295] |
Chr14:102870274 [GRCh38]
Chr14:103336611 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1105A>G (p.Lys369Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001305707] |
Chr14:102903399 [GRCh38]
Chr14:103369736 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1012C>T (p.Arg338Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001300138] |
Chr14:102903306 [GRCh38]
Chr14:103369643 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.563C>A (p.Ala188Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001317250] |
Chr14:102876518 [GRCh38]
Chr14:103342855 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.297+11G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001396645] |
Chr14:102871979 [GRCh38]
Chr14:103338316 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570G>C (p.Gln190His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001370831] |
Chr14:102876525 [GRCh38]
Chr14:103342862 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.139G>A (p.Val47Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001370446] |
Chr14:102870340 [GRCh38]
Chr14:103336677 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1136-10C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001415423] |
Chr14:102905203 [GRCh38]
Chr14:103371540 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.969dup (p.Asp324fs) |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001352007] |
Chr14:102903262..102903263 [GRCh38]
Chr14:103369599..103369600 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.577G>A (p.Glu193Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001339174] |
Chr14:102886195 [GRCh38]
Chr14:103352532 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001305059] |
Chr14:102870236 [GRCh38]
Chr14:103336573 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.782A>G (p.Asn261Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001370971] |
Chr14:102891380 [GRCh38]
Chr14:103357717 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NC_000014.8:g.(?_103336519)_(103397037_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001319584] |
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.16A>G (p.Lys6Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001363835] |
Chr14:102870217 [GRCh38]
Chr14:103336554 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.51G>A (p.Pro17=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001395978] |
Chr14:102870252 [GRCh38]
Chr14:103336589 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1395G>A (p.Met465Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001305090] |
Chr14:102905472 [GRCh38]
Chr14:103371809 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.563C>T (p.Ala188Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001340356] |
Chr14:102876518 [GRCh38]
Chr14:103342855 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.198C>G (p.Thr66=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001412438] |
Chr14:102870399 [GRCh38]
Chr14:103336736 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.652-8C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001440793] |
Chr14:102889552 [GRCh38]
Chr14:103355889 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1416G>A (p.Ser472=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001519038] |
Chr14:102905493 [GRCh38]
Chr14:103371830 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1227G>A (p.Leu409=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001436751] |
Chr14:102905304 [GRCh38]
Chr14:103371641 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.576C>T (p.His192=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001516736] |
Chr14:102886194 [GRCh38]
Chr14:103352531 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.507G>C (p.Ala169=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001480625] |
Chr14:102876462 [GRCh38]
Chr14:103342799 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.9G>C (p.Ser3=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001492921]|TRAF3-related condition [RCV003948443] |
Chr14:102870210 [GRCh38]
Chr14:103336547 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.820-15G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001523025] |
Chr14:102897246 [GRCh38]
Chr14:103363583 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1113G>A (p.Ala371=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001491889] |
Chr14:102903407 [GRCh38]
Chr14:103369744 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.933T>C (p.Asn311=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001493542] |
Chr14:102897374 [GRCh38]
Chr14:103363711 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1317C>G (p.Ser439=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001411785] |
Chr14:102905394 [GRCh38]
Chr14:103371731 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.996G>A (p.Glu332=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001432455] |
Chr14:102903290 [GRCh38]
Chr14:103369627 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1626T>C (p.Val542=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001445988] |
Chr14:102905703 [GRCh38]
Chr14:103372040 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+9C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001426357] |
Chr14:102876534 [GRCh38]
Chr14:103342871 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.777C>T (p.His259=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001432761] |
Chr14:102891375 [GRCh38]
Chr14:103357712 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.153C>T (p.Tyr51=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001439716] |
Chr14:102870354 [GRCh38]
Chr14:103336691 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.564G>A (p.Ala188=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001410576] |
Chr14:102876519 [GRCh38]
Chr14:103342856 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.765C>T (p.Ser255=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001398455] |
Chr14:102891363 [GRCh38]
Chr14:103357700 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1389C>T (p.Asp463=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001425652]|TRAF3-related condition [RCV003946114] |
Chr14:102905466 [GRCh38]
Chr14:103371803 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.267A>C (p.Thr89=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001438199] |
Chr14:102871938 [GRCh38]
Chr14:103338275 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.386_387inv (p.Met129Thr) |
inversion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001479340] |
Chr14:102875712..102875713 [GRCh38]
Chr14:103342049..103342050 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1485A>G (p.Thr495=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001510638] |
Chr14:102905562 [GRCh38]
Chr14:103371899 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.621G>A (p.Lys207=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001483550] |
Chr14:102886239 [GRCh38]
Chr14:103352576 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.747G>A (p.Lys249=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001489422] |
Chr14:102891345 [GRCh38]
Chr14:103357682 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1383C>T (p.Asn461=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001472885] |
Chr14:102905460 [GRCh38]
Chr14:103371797 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1242C>T (p.Tyr414=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001439524] |
Chr14:102905319 [GRCh38]
Chr14:103371656 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+20A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001513807] |
Chr14:102876545 [GRCh38]
Chr14:103342882 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1314G>C (p.Leu438=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001510032] |
Chr14:102905391 [GRCh38]
Chr14:103371728 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.245+16C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001523163] |
Chr14:102870462 [GRCh38]
Chr14:103336799 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.768C>T (p.Ala256=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001485949] |
Chr14:102891366 [GRCh38]
Chr14:103357703 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.386T>C (p.Met129Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001518952]|not specified [RCV003487382] |
Chr14:102875712 [GRCh38]
Chr14:103342049 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1224C>G (p.Val408=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001512832] |
Chr14:102905301 [GRCh38]
Chr14:103371638 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1143G>A (p.Leu381=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001398578] |
Chr14:102905220 [GRCh38]
Chr14:103371557 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1413G>A (p.Leu471=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001426155] |
Chr14:102905490 [GRCh38]
Chr14:103371827 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.727-4G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001481048] |
Chr14:102891321 [GRCh38]
Chr14:103357658 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.729G>A (p.Gly243=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001424261] |
Chr14:102891327 [GRCh38]
Chr14:103357664 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.297+19T>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001518203]|not specified [RCV003487374] |
Chr14:102871987 [GRCh38]
Chr14:103338324 [GRCh37]
Chr14:14q32.32 |
benign |
| NC_000014.8:g.(?_102442029)_(105861009_?)del |
deletion |
Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] |
Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33 |
uncertain significance |
| NC_000014.8:g.(?_103336539)_(105861009_?)dup |
duplication |
not provided [RCV002239722] |
Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33 |
uncertain significance |
| NM_145725.3(TRAF3):c.1086C>T (p.Thr362=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003106937] |
Chr14:102903380 [GRCh38]
Chr14:103369717 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002034535]|Multisystem inflammatory syndrome in children [RCV001779432] |
Chr14:102903405 [GRCh38]
Chr14:103369742 [GRCh37]
Chr14:14q32.32 |
risk factor|uncertain significance |
| NM_145725.3(TRAF3):c.156G>T (p.Lys52Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001896053] |
Chr14:102870357 [GRCh38]
Chr14:103336694 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1186G>A (p.Asp396Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001913732] |
Chr14:102905263 [GRCh38]
Chr14:103371600 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.490G>A (p.Asp164Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001873968] |
Chr14:102876445 [GRCh38]
Chr14:103342782 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.880C>A (p.Gln294Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001970992] |
Chr14:102897321 [GRCh38]
Chr14:103363658 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1429A>G (p.Ile477Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002005365] |
Chr14:102905506 [GRCh38]
Chr14:103371843 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.456C>G (p.Asp152Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002042456] |
Chr14:102876411 [GRCh38]
Chr14:103342748 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) |
copy number loss |
not specified [RCV002052456] |
Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.922A>G (p.Met308Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001912291] |
Chr14:102897363 [GRCh38]
Chr14:103363700 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.652-18G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001891328] |
Chr14:102889542 [GRCh38]
Chr14:103355879 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.971_974del (p.Asp324fs) |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001891711] |
Chr14:102903263..102903266 [GRCh38]
Chr14:103369600..103369603 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 |
copy number loss |
not provided [RCV001829204] |
Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.570+4C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001965375] |
Chr14:102876529 [GRCh38]
Chr14:103342866 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.496G>A (p.Val166Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001926729] |
Chr14:102876451 [GRCh38]
Chr14:103342788 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.118A>G (p.Lys40Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001927786] |
Chr14:102870319 [GRCh38]
Chr14:103336656 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4 |
copy number gain |
not provided [RCV001825177] |
Chr14:102871245..103645036 [GRCh37]
Chr14:14q32.31-32.32 |
not provided |
| NM_145725.3(TRAF3):c.626G>A (p.Ser209Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001888513]|Inborn genetic diseases [RCV002552230] |
Chr14:102886244 [GRCh38]
Chr14:103352581 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.219C>T (p.Cys73=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001924834] |
Chr14:102870420 [GRCh38]
Chr14:103336757 [GRCh37]
Chr14:14q32.32 |
likely benign|uncertain significance |
| NM_145725.3(TRAF3):c.1214G>A (p.Arg405His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002016368] |
Chr14:102905291 [GRCh38]
Chr14:103371628 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.604G>C (p.Val202Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002030198] |
Chr14:102886222 [GRCh38]
Chr14:103352559 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NC_000014.8:g.(?_103148212)_(105861009_?)del |
deletion |
not provided [RCV002000609] |
Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33 |
uncertain significance |
| NM_145725.3(TRAF3):c.1201G>A (p.Asp401Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001887939] |
Chr14:102905278 [GRCh38]
Chr14:103371615 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1123G>A (p.Ala375Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001963650] |
Chr14:102903417 [GRCh38]
Chr14:103369754 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.233C>T (p.Ala78Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001919378] |
Chr14:102870434 [GRCh38]
Chr14:103336771 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.365G>C (p.Arg122Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001989129] |
Chr14:102875691 [GRCh38]
Chr14:103342028 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.212G>A (p.Arg71His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002031299] |
Chr14:102870413 [GRCh38]
Chr14:103336750 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.260A>C (p.Lys87Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001955032] |
Chr14:102871931 [GRCh38]
Chr14:103338268 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001991901] |
Chr14:102886267 [GRCh38]
Chr14:103352604 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001904107] |
Chr14:102905360 [GRCh38]
Chr14:103371697 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NC_000014.8:g.(?_102229222)_(105861009_?)dup |
duplication |
not provided [RCV003120748] |
Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33 |
uncertain significance |
| NM_145725.3(TRAF3):c.1435C>T (p.Arg479Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002049137] |
Chr14:102905512 [GRCh38]
Chr14:103371849 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001920127] |
Chr14:102903372 [GRCh38]
Chr14:103369709 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.86C>T (p.Thr29Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002019918] |
Chr14:102870287 [GRCh38]
Chr14:103336624 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1219C>T (p.Gln407Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002010304] |
Chr14:102905296 [GRCh38]
Chr14:103371633 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.874C>T (p.His292Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001995292] |
Chr14:102897315 [GRCh38]
Chr14:103363652 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1445A>G (p.Tyr482Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001877240] |
Chr14:102905522 [GRCh38]
Chr14:103371859 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.492C>A (p.Asp164Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001877243] |
Chr14:102876447 [GRCh38]
Chr14:103342784 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.635C>T (p.Thr212Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001900581] |
Chr14:102886253 [GRCh38]
Chr14:103352590 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.887G>A (p.Cys296Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001885699] |
Chr14:102897328 [GRCh38]
Chr14:103363665 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.960+19C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002035376] |
Chr14:102897420 [GRCh38]
Chr14:103363757 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1064A>C (p.Glu355Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002018747] |
Chr14:102903358 [GRCh38]
Chr14:103369695 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.185G>A (p.Ser62Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001882318]|Inborn genetic diseases [RCV003355620] |
Chr14:102870386 [GRCh38]
Chr14:103336723 [GRCh37]
Chr14:14q32.32 |
likely benign|uncertain significance |
| NM_145725.3(TRAF3):c.28C>A (p.Pro10Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV001972076] |
Chr14:102870229 [GRCh38]
Chr14:103336566 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.488G>C (p.Arg163Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002026399] |
Chr14:102876443 [GRCh38]
Chr14:103342780 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.961C>T (p.Arg321Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002029137] |
Chr14:102903255 [GRCh38]
Chr14:103369592 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.402+11A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002108999] |
Chr14:102875739 [GRCh38]
Chr14:103342076 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.727-16A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002091413] |
Chr14:102891309 [GRCh38]
Chr14:103357646 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.138C>T (p.Thr46=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002190569] |
Chr14:102870339 [GRCh38]
Chr14:103336676 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1239C>T (p.Ser413=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002126972] |
Chr14:102905316 [GRCh38]
Chr14:103371653 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.315C>T (p.Cys105=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002084611] |
Chr14:102875641 [GRCh38]
Chr14:103341978 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1136-17del |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002209093] |
Chr14:102905194 [GRCh38]
Chr14:103371531 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1185C>T (p.His395=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002109040] |
Chr14:102905262 [GRCh38]
Chr14:103371599 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.246-17C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002205377] |
Chr14:102871900 [GRCh38]
Chr14:103338237 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.297+12T>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002129647] |
Chr14:102871980 [GRCh38]
Chr14:103338317 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.297+21dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002075286] |
Chr14:102871987..102871988 [GRCh38]
Chr14:103338324..103338325 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.543G>A (p.Lys181=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002071460] |
Chr14:102876498 [GRCh38]
Chr14:103342835 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+12C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002185402] |
Chr14:102870458 [GRCh38]
Chr14:103336795 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.960+20G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002075033] |
Chr14:102897421 [GRCh38]
Chr14:103363758 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1245T>C (p.Asn415=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002214826] |
Chr14:102905322 [GRCh38]
Chr14:103371659 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1590C>T (p.Ile530=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002133980] |
Chr14:102905667 [GRCh38]
Chr14:103372004 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.403-14G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002153160] |
Chr14:102876344 [GRCh38]
Chr14:103342681 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.652-18G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002208331] |
Chr14:102889542 [GRCh38]
Chr14:103355879 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+19C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002117349] |
Chr14:102870465 [GRCh38]
Chr14:103336802 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1407G>A (p.Thr469=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002212706] |
Chr14:102905484 [GRCh38]
Chr14:103371821 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.285C>T (p.Ile95=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002172043] |
Chr14:102871956 [GRCh38]
Chr14:103338293 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.483C>T (p.Asp161=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002094429]|TRAF3-related condition [RCV003971007] |
Chr14:102876438 [GRCh38]
Chr14:103342775 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.585C>T (p.Thr195=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002127055] |
Chr14:102886203 [GRCh38]
Chr14:103352540 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.57A>G (p.Leu19=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002189743] |
Chr14:102870258 [GRCh38]
Chr14:103336595 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.820-12T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002095414] |
Chr14:102897249 [GRCh38]
Chr14:103363586 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.987A>G (p.Lys329=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002079011] |
Chr14:102903281 [GRCh38]
Chr14:103369618 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.528A>G (p.Thr176=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002127795] |
Chr14:102876483 [GRCh38]
Chr14:103342820 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1431C>A (p.Ile477=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002213391] |
Chr14:102905508 [GRCh38]
Chr14:103371845 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1098C>T (p.Ser366=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002215399] |
Chr14:102903392 [GRCh38]
Chr14:103369729 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+22_245+33del |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002193243] |
Chr14:102870457..102870468 [GRCh38]
Chr14:103336794..103336805 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1135+9GGGGCC[3] |
microsatellite |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002095074] |
Chr14:102903437..102903438 [GRCh38]
Chr14:103369774..103369775 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.210C>T (p.His70=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002134046] |
Chr14:102870411 [GRCh38]
Chr14:103336748 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.612C>T (p.Cys204=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002098918] |
Chr14:102886230 [GRCh38]
Chr14:103352567 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.486G>T (p.Leu162=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002084341] |
Chr14:102876441 [GRCh38]
Chr14:103342778 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1136-15C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002197741] |
Chr14:102905198 [GRCh38]
Chr14:103371535 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+7G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002140782] |
Chr14:102870453 [GRCh38]
Chr14:103336790 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.138C>G (p.Thr46=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002158224] |
Chr14:102870339 [GRCh38]
Chr14:103336676 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.651+13G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002200529] |
Chr14:102886282 [GRCh38]
Chr14:103352619 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.297+10G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002120341] |
Chr14:102871978 [GRCh38]
Chr14:103338315 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.375A>C (p.Ala125=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002123047] |
Chr14:102875701 [GRCh38]
Chr14:103342038 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.564G>C (p.Ala188=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002159985] |
Chr14:102876519 [GRCh38]
Chr14:103342856 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.726+11G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002158560] |
Chr14:102889645 [GRCh38]
Chr14:103355982 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.402+18A>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002103009] |
Chr14:102875746 [GRCh38]
Chr14:103342083 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.501G>A (p.Glu167=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002142038] |
Chr14:102876456 [GRCh38]
Chr14:103342793 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1233C>T (p.Thr411=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002204767] |
Chr14:102905310 [GRCh38]
Chr14:103371647 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.491A>G (p.Asp164Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003115490]|not provided [RCV003396894] |
Chr14:102876446 [GRCh38]
Chr14:103342783 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NC_000014.9:g.102573453_103575949del |
deletion |
Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] |
Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.1597G>A (p.Gly533Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002304961] |
Chr14:102905674 [GRCh38]
Chr14:103372011 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.727-4G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002903264] |
Chr14:102891321 [GRCh38]
Chr14:103357658 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1611T>C (p.Phe537=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002880603] |
Chr14:102905688 [GRCh38]
Chr14:103372025 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.370T>G (p.Cys124Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002994125] |
Chr14:102875696 [GRCh38]
Chr14:103342033 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.29C>T (p.Pro10Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003033507] |
Chr14:102870230 [GRCh38]
Chr14:103336567 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1126C>T (p.Arg376Trp) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002726588] |
Chr14:102903420 [GRCh38]
Chr14:103369757 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.637C>G (p.Leu213Val) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002751488] |
Chr14:102886255 [GRCh38]
Chr14:103352592 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1013G>A (p.Arg338Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002775398] |
Chr14:102903307 [GRCh38]
Chr14:103369644 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1097G>A (p.Ser366Asn) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003095847] |
Chr14:102903391 [GRCh38]
Chr14:103369728 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.691A>G (p.Thr231Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003033657] |
Chr14:102889599 [GRCh38]
Chr14:103355936 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1308G>A (p.Lys436=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002863543] |
Chr14:102905385 [GRCh38]
Chr14:103371722 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1390G>A (p.Gly464Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002613997] |
Chr14:102905467 [GRCh38]
Chr14:103371804 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1233C>G (p.Thr411=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002592692] |
Chr14:102905310 [GRCh38]
Chr14:103371647 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1087G>C (p.Glu363Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002871308] |
Chr14:102903381 [GRCh38]
Chr14:103369718 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.651+12C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002592754] |
Chr14:102886281 [GRCh38]
Chr14:103352618 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.246C>G (p.Ser82Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002952561] |
Chr14:102871917 [GRCh38]
Chr14:103338254 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.680A>G (p.Asn227Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002786059] |
Chr14:102889588 [GRCh38]
Chr14:103355925 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.604G>T (p.Val202Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002795795] |
Chr14:102886222 [GRCh38]
Chr14:103352559 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1599C>G (p.Gly533=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002639305] |
Chr14:102905676 [GRCh38]
Chr14:103372013 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.246-12_246-11del |
microsatellite |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003054357] |
Chr14:102871902..102871903 [GRCh38]
Chr14:103338239..103338240 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+11T>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002914354] |
Chr14:102870457 [GRCh38]
Chr14:103336794 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+12C>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002976725] |
Chr14:102876537 [GRCh38]
Chr14:103342874 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1135+15G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002999070] |
Chr14:102903444 [GRCh38]
Chr14:103369781 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.584C>T (p.Thr195Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003035383] |
Chr14:102886202 [GRCh38]
Chr14:103352539 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.390G>A (p.Leu130=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002820708] |
Chr14:102875716 [GRCh38]
Chr14:103342053 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.574C>T (p.His192Tyr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002824887] |
Chr14:102886192 [GRCh38]
Chr14:103352529 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1137C>T (p.Gly379=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002949065] |
Chr14:102905214 [GRCh38]
Chr14:103371551 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.726+16T>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002998680] |
Chr14:102889650 [GRCh38]
Chr14:103355987 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.54G>A (p.Pro18=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002909941] |
Chr14:102870255 [GRCh38]
Chr14:103336592 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.318C>T (p.Cys106=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003036349] |
Chr14:102875644 [GRCh38]
Chr14:103341981 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1135+20C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003053165] |
Chr14:102903449 [GRCh38]
Chr14:103369786 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1282C>T (p.Arg428Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002804236] |
Chr14:102905359 [GRCh38]
Chr14:103371696 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.549G>A (p.Gln183=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002745687] |
Chr14:102876504 [GRCh38]
Chr14:103342841 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.598G>A (p.Val200Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003083190] |
Chr14:102886216 [GRCh38]
Chr14:103352553 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.761G>A (p.Ser254Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002916827] |
Chr14:102891359 [GRCh38]
Chr14:103357696 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.652-19C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002624422] |
Chr14:102889541 [GRCh38]
Chr14:103355878 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.649G>C (p.Glu217Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003023452] |
Chr14:102886267 [GRCh38]
Chr14:103352604 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1060G>A (p.Val354Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002786197] |
Chr14:102903354 [GRCh38]
Chr14:103369691 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.727-15T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002852199] |
Chr14:102891310 [GRCh38]
Chr14:103357647 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+18C>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002710088] |
Chr14:102876543 [GRCh38]
Chr14:103342880 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.961-13T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002710658] |
Chr14:102903242 [GRCh38]
Chr14:103369579 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.651+18C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003082436] |
Chr14:102886287 [GRCh38]
Chr14:103352624 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1127G>A (p.Arg376Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002700453] |
Chr14:102903421 [GRCh38]
Chr14:103369758 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.711T>C (p.Tyr237=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002829639] |
Chr14:102889619 [GRCh38]
Chr14:103355956 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.774G>A (p.Gln258=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003056853] |
Chr14:102891372 [GRCh38]
Chr14:103357709 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1665T>C (p.Phe555=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002573164] |
Chr14:102905742 [GRCh38]
Chr14:103372079 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1135+12G>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003082381] |
Chr14:102903441 [GRCh38]
Chr14:103369778 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1688C>T (p.Ser563Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002602238]|Inborn genetic diseases [RCV002602237] |
Chr14:102905765 [GRCh38]
Chr14:103372102 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.954T>C (p.His318=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002937129] |
Chr14:102897395 [GRCh38]
Chr14:103363732 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.535C>T (p.His179Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002769338] |
Chr14:102876490 [GRCh38]
Chr14:103342827 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.961-11T>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003088516] |
Chr14:102903244 [GRCh38]
Chr14:103369581 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1022G>A (p.Arg341Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002630082] |
Chr14:102903316 [GRCh38]
Chr14:103369653 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.79G>C (p.Ala27Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002651251] |
Chr14:102870280 [GRCh38]
Chr14:103336617 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.403-3C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002632337] |
Chr14:102876355 [GRCh38]
Chr14:103342692 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.295A>G (p.Lys99Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003029600] |
Chr14:102871966 [GRCh38]
Chr14:103338303 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.246-18A>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003091773] |
Chr14:102871899 [GRCh38]
Chr14:103338236 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.858G>A (p.Lys286=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002605201] |
Chr14:102897299 [GRCh38]
Chr14:103363636 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.960G>A (p.Gln320=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003049877] |
Chr14:102897401 [GRCh38]
Chr14:103363738 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.651+13G>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002654888] |
Chr14:102886282 [GRCh38]
Chr14:103352619 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.598G>T (p.Val200Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002589933] |
Chr14:102886216 [GRCh38]
Chr14:103352553 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1581G>A (p.Glu527=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002609310] |
Chr14:102905658 [GRCh38]
Chr14:103371995 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.246-14G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002613333] |
Chr14:102871903 [GRCh38]
Chr14:103338240 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.511A>G (p.Lys171Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002814823] |
Chr14:102876466 [GRCh38]
Chr14:103342803 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.297+18_297+19inv |
inversion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002611841] |
Chr14:102871986..102871987 [GRCh38]
Chr14:103338323..103338324 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.778G>A (p.Val260Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002944426] |
Chr14:102891376 [GRCh38]
Chr14:103357713 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1081G>A (p.Val361Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002725417] |
Chr14:102903375 [GRCh38]
Chr14:103369712 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.807G>A (p.Ser269=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV002612436] |
Chr14:102891405 [GRCh38]
Chr14:103357742 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.862A>G (p.Ile288Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003203679] |
Chr14:102897303 [GRCh38]
Chr14:103363640 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1458del (p.Pro487fs) |
deletion |
TRAF3 haploinsufficiency [RCV003325323] |
Chr14:102905534 [GRCh38]
Chr14:103371871 [GRCh37]
Chr14:14q32.32 |
pathogenic |
| GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 |
copy number loss |
Neurodevelopmental disorder [RCV003327606] |
Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.76A>C (p.Ser26Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003361291] |
Chr14:102870277 [GRCh38]
Chr14:103336614 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.126G>C (p.Lys42Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003346145] |
Chr14:102870327 [GRCh38]
Chr14:103336664 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.840A>G (p.Glu280=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003875008] |
Chr14:102897281 [GRCh38]
Chr14:103363618 [GRCh37]
Chr14:14q32.32 |
likely benign |
| GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 |
copy number loss |
not provided [RCV003483217] |
Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.297+19dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003874062] |
Chr14:102871979..102871980 [GRCh38]
Chr14:103338316..103338317 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.727-59G>T |
single nucleotide variant |
not specified [RCV003488923] |
Chr14:102891266 [GRCh38]
Chr14:103357603 [GRCh37]
Chr14:14q32.32 |
benign |
| GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.810C>G (p.Leu270=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003872739] |
Chr14:102891408 [GRCh38]
Chr14:103357745 [GRCh37]
Chr14:14q32.32 |
likely benign |
| GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33 |
pathogenic |
| NM_145725.3(TRAF3):c.481G>T (p.Asp161Tyr) |
single nucleotide variant |
TRAF3-related condition [RCV003393019] |
Chr14:102876436 [GRCh38]
Chr14:103342773 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.345C>A (p.Ile115=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003879104] |
Chr14:102875671 [GRCh38]
Chr14:103342008 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.25T>A (p.Ser9Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648118] |
Chr14:102870226 [GRCh38]
Chr14:103336563 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1377C>T (p.Tyr459=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648361] |
Chr14:102905454 [GRCh38]
Chr14:103371791 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.628G>A (p.Val210Ile) |
single nucleotide variant |
not provided [RCV003491685] |
Chr14:102886246 [GRCh38]
Chr14:103352583 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.825C>T (p.Ser275=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648782] |
Chr14:102897266 [GRCh38]
Chr14:103363603 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1314G>A (p.Leu438=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649009] |
Chr14:102905391 [GRCh38]
Chr14:103371728 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003830149] |
Chr14:102870229 [GRCh38]
Chr14:103336566 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.67A>G (p.Thr23Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648697] |
Chr14:102870268 [GRCh38]
Chr14:103336605 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1135+17G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003879029] |
Chr14:102903446 [GRCh38]
Chr14:103369783 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.554C>T (p.Pro185Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648901] |
Chr14:102876509 [GRCh38]
Chr14:103342846 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.402+17C>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648077] |
Chr14:102875745 [GRCh38]
Chr14:103342082 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1100T>A (p.Val367Glu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648706] |
Chr14:102903394 [GRCh38]
Chr14:103369731 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1135+4_1135+9dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648910] |
Chr14:102903431..102903432 [GRCh38]
Chr14:103369768..103369769 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.402+20T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648944] |
Chr14:102875748 [GRCh38]
Chr14:103342085 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.403G>A (p.Val135Met) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648238] |
Chr14:102876358 [GRCh38]
Chr14:103342695 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.111A>G (p.Gly37=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648860] |
Chr14:102870312 [GRCh38]
Chr14:103336649 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.651+9G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649111] |
Chr14:102886278 [GRCh38]
Chr14:103352615 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.300G>A (p.Val100=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648317] |
Chr14:102875626 [GRCh38]
Chr14:103341963 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.868A>G (p.Ser290Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648364] |
Chr14:102897309 [GRCh38]
Chr14:103363646 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.402+20dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649101] |
Chr14:102875747..102875748 [GRCh38]
Chr14:103342084..103342085 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.961-12T>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003647701] |
Chr14:102903243 [GRCh38]
Chr14:103369580 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.651+77C>T |
single nucleotide variant |
not specified [RCV003489255] |
Chr14:102886346 [GRCh38]
Chr14:103352683 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.638_639del (p.Leu213fs) |
microsatellite |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648405] |
Chr14:102886253..102886254 [GRCh38]
Chr14:103352590..103352591 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.416A>G (p.Asn139Ser) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648963] |
Chr14:102876371 [GRCh38]
Chr14:103342708 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.253A>G (p.Ser85Gly) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649007] |
Chr14:102871924 [GRCh38]
Chr14:103338261 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.245+14C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649028] |
Chr14:102870460 [GRCh38]
Chr14:103336797 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.138C>A (p.Thr46=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003876498] |
Chr14:102870339 [GRCh38]
Chr14:103336676 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.618C>T (p.His206=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003649123] |
Chr14:102886236 [GRCh38]
Chr14:103352573 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1551C>T (p.Asn517=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648675] |
Chr14:102905628 [GRCh38]
Chr14:103371965 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.628G>T (p.Val210Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648741] |
Chr14:102886246 [GRCh38]
Chr14:103352583 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1136-4G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648775] |
Chr14:102905209 [GRCh38]
Chr14:103371546 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+31_570+66del |
deletion |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648179] |
Chr14:102876539..102876574 [GRCh38]
Chr14:103342876..103342911 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.87G>A (p.Thr29=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648587] |
Chr14:102870288 [GRCh38]
Chr14:103336625 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.779T>C (p.Val260Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648672] |
Chr14:102891377 [GRCh38]
Chr14:103357714 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.7T>C (p.Ser3Pro) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003876796] |
Chr14:102870208 [GRCh38]
Chr14:103336545 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.507G>T (p.Ala169=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648064] |
Chr14:102876462 [GRCh38]
Chr14:103342799 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+21C>T |
single nucleotide variant |
not specified [RCV003489254] |
Chr14:102870467 [GRCh38]
Chr14:103336804 [GRCh37]
Chr14:14q32.32 |
benign |
| NM_145725.3(TRAF3):c.1398G>T (p.Gly466=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003648359] |
Chr14:102905475 [GRCh38]
Chr14:103371812 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.500A>C (p.Glu167Ala) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003533970] |
Chr14:102876455 [GRCh38]
Chr14:103342792 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1150C>T (p.Gln384Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534043] |
Chr14:102905227 [GRCh38]
Chr14:103371564 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1268G>A (p.Arg423His) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003532415] |
Chr14:102905345 [GRCh38]
Chr14:103371682 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.347A>G (p.Tyr116Cys) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534172] |
Chr14:102875673 [GRCh38]
Chr14:103342010 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1297G>A (p.Val433Ile) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534293] |
Chr14:102905374 [GRCh38]
Chr14:103371711 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1467G>A (p.Pro489=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003532476] |
Chr14:102905544 [GRCh38]
Chr14:103371881 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.90A>G (p.Pro30=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003811446] |
Chr14:102870291 [GRCh38]
Chr14:103336628 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1575T>C (p.Thr525=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531511] |
Chr14:102905652 [GRCh38]
Chr14:103371989 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.819+16T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003832707] |
Chr14:102891433 [GRCh38]
Chr14:103357770 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.391G>C (p.Gly131Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534164] |
Chr14:102875717 [GRCh38]
Chr14:103342054 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.567G>C (p.Leu189=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531634] |
Chr14:102876522 [GRCh38]
Chr14:103342859 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1133C>G (p.Thr378Arg) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531885] |
Chr14:102903427 [GRCh38]
Chr14:103369764 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.819+16dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534042] |
Chr14:102891430..102891431 [GRCh38]
Chr14:103357767..103357768 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1033G>T (p.Glu345Ter) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531794] |
Chr14:102903327 [GRCh38]
Chr14:103369664 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.507G>A (p.Ala169=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003533919] |
Chr14:102876462 [GRCh38]
Chr14:103342799 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.957A>G (p.Leu319=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003532385] |
Chr14:102897398 [GRCh38]
Chr14:103363735 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.570+5G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003534292] |
Chr14:102876530 [GRCh38]
Chr14:103342867 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.651+19G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531413] |
Chr14:102886288 [GRCh38]
Chr14:103352625 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.766G>A (p.Ala256Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003531506] |
Chr14:102891364 [GRCh38]
Chr14:103357701 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.651+16C>G |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003836095] |
Chr14:102886285 [GRCh38]
Chr14:103352622 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.1612G>T (p.Val538Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003533947] |
Chr14:102905689 [GRCh38]
Chr14:103372026 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.824C>T (p.Ser275Phe) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003823009] |
Chr14:102897265 [GRCh38]
Chr14:103363602 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.439C>A (p.Pro147Thr) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003845790] |
Chr14:102876394 [GRCh38]
Chr14:103342731 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.1161G>T (p.Arg387=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003841127] |
Chr14:102905238 [GRCh38]
Chr14:103371575 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.353G>A (p.Arg118Gln) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003861228] |
Chr14:102875679 [GRCh38]
Chr14:103342016 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 |
copy number loss |
not specified [RCV003987056] |
Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33 |
pathogenic |
| GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3 |
copy number gain |
not specified [RCV003987047] |
Chr14:97705251..103682578 [GRCh37]
Chr14:14q32.2-32.32 |
uncertain significance |
| GRCh37/hg19 14q32.32(chr14:103237507-103377574)x1 |
copy number loss |
not specified [RCV003987063] |
Chr14:103237507..103377574 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.50C>T (p.Pro17Leu) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003870218] |
Chr14:102870251 [GRCh38]
Chr14:103336588 [GRCh37]
Chr14:14q32.32 |
uncertain significance |
| NM_145725.3(TRAF3):c.561C>T (p.Ile187=) |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003853708] |
Chr14:102876516 [GRCh38]
Chr14:103342853 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+17G>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003847539] |
Chr14:102870463 [GRCh38]
Chr14:103336800 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.571-5T>C |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003865083] |
Chr14:102886184 [GRCh38]
Chr14:103352521 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.245+17G>A |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003840637] |
Chr14:102870463 [GRCh38]
Chr14:103336800 [GRCh37]
Chr14:14q32.32 |
likely benign |
| NM_145725.3(TRAF3):c.402+17C>T |
single nucleotide variant |
Herpes simplex encephalitis, susceptibility to, 3 [RCV003863098] |
Chr14:102875745 [GRCh38]
Chr14:103342082 [GRCh37]
Chr14:14q32.32 |
likely benign |
