IIAE1
MCID: ENC060
MIFTS: 30

Encephalopathy, Acute, Infection-Induced 1 (IIAE1)

Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 1

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 1:

Name: Encephalopathy, Acute, Infection-Induced 1 57
Herpes Simplex Encephalitis 1 57 72 29 6
Herpes Simplex Encephalitis, Susceptibility to, 1 57 13
Iiae1 57 72
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 1 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 1 72
Herpes Simplex Encephalitis, Susceptibility to, Type 1 39
Encephalopathy, Acute, Infection-Induced, 1 72
Infection-Induced Acute Encephalopathy 1 72
Encephalitis, Herpes Simplex 44
Hse1 72

Characteristics:

HPO:

31
encephalopathy, acute, infection-induced 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 610551
OMIM Phenotypic Series 57 PS610551
MeSH 44 D020803
MedGen 41 C2750180
SNOMED-CT via HPO 68 258211005 428638009

Summaries for Encephalopathy, Acute, Infection-Induced 1

OMIM® : 57 Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system (CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4 per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and glial cells, where focal necrotizing infections occur, primarily affecting the temporal and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases, although the mortality and morbidity have been drastically reduced with antiviral therapy. Approximately one-third of all HSE cases are due to primary infections, and 30% of all HSE cases occur in children under the age of 20 years. Among children, HSE peaks between 3 months and 3 years of age, coinciding with the time of primary infection. In a subset of children, HSE results from a series of monogenic primary immunodeficiencies that impair UNC93B1- and TLR3 (603029)-dependent production of IFNA (147660)/IFNB (147640) and IFNG (147570) in the CNS (summary by Sancho-Shimizu et al., 2007). (610551) (Updated 20-May-2021)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 1, also known as herpes simplex encephalitis 1, is related to encephalopathy, acute, infection-induced 2 and encephalopathy, acute, infection-induced 7. An important gene associated with Encephalopathy, Acute, Infection-Induced 1 is UNC93B1 (Unc-93 Homolog B1, TLR Signaling Regulator). The drugs Acyclovir and Dexamethasone acetate have been mentioned in the context of this disorder. Related phenotypes are recurrent herpes and herpes simplex encephalitis

UniProtKB/Swiss-Prot : 72 Encephalopathy, acute, infection-induced, Herpes-specific, 1: A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome.

Related Diseases for Encephalopathy, Acute, Infection-Induced 1

Graphical network of the top 20 diseases related to Encephalopathy, Acute, Infection-Induced 1:



Diseases related to Encephalopathy, Acute, Infection-Induced   1

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 1

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 1:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 recurrent herpes 31 HP:0005353
2 herpes simplex encephalitis 31 HP:0012302

Clinical features from OMIM®:

610551 (Updated 20-May-2021)

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 1

Drugs for Encephalopathy, Acute, Infection-Induced 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 15, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acyclovir Approved Phase 3 59277-89-3 2022
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
4 valacyclovir Phase 3
5 Anti-Infective Agents Phase 3
6 Antiviral Agents Phase 3
7 Gastrointestinal Agents Phase 3
8 Hormones Phase 3
9 Antiemetics Phase 3
10 Hormone Antagonists Phase 3
11 Anti-Inflammatory Agents Phase 3
12 glucocorticoids Phase 3
13 Antineoplastic Agents, Hormonal Phase 3
14 Immunoglobulins
15 Antibodies

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 A Phase III Double-Blind, Placebo-Controlled Trial of Long Term Therapy of Herpes Simplex Encephalitis (HSE): An Evaluation of Valacyclovir (CASG-204) Completed NCT00031486 Phase 3 Valacyclovir;Placebo
2 Dexamethasone in Herpes Simplex Virus Encephalitis Open Label Randomized Controlled Trial With an Observer-blinded Evaluation at 6 Months Recruiting NCT03084783 Phase 3 Dexamethasone
3 Study of 12 Cases of Autoimmune Encephalitis With Anti-NMDA Receptor Antibodies Following Herpetic Encephalitis and Review of the Literature Recruiting NCT04339127

Search NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 1

Cochrane evidence based reviews: encephalitis, herpes simplex

Genetic Tests for Encephalopathy, Acute, Infection-Induced 1

Genetic tests related to Encephalopathy, Acute, Infection-Induced 1:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis 1 29 UNC93B1

Anatomical Context for Encephalopathy, Acute, Infection-Induced 1

Publications for Encephalopathy, Acute, Infection-Induced 1

Articles related to Encephalopathy, Acute, Infection-Induced 1:

(showing 9, show less)
# Title Authors PMID Year
1
Herpes simplex virus encephalitis in human UNC-93B deficiency. 6 57
16973841 2006
2
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. 57
23103873 2012
3
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. 57
17989525 2007
4
Familial herpes simplex encephalitis. 57
11891839 2002
5
Familial herpes encephalitis. 57
8622435 1996
6
Familial herpes encephalitis. 57
7491057 1995
7
Two cases of herpes simplex virus encephalitis in the same family. 57
6855821 1983
8
Syndromes of Rapidly Progressive Cognitive Decline-Our Experience. 61
28936074 2017
9
Kluver-Bucy syndrome -- an experience with six cases. 61
15472430 2004

Variations for Encephalopathy, Acute, Infection-Induced 1

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 1:

6 (showing 245, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC93B1 UNC93B1, 4-BP DEL, 1034CTTT Deletion risk factor 2486 GRCh37:
GRCh38:
2 UNC93B1 NM_030930.4(UNC93B1):c.781G>A (p.Gly261Ser) SNV risk factor 2487 rs780094017 GRCh37: 11:67765829-67765829
GRCh38: 11:67998359-67998359
3 TLR3 NM_003265.2(TLR3):c.1378G>A (p.Glu460Lys) SNV Uncertain significance 639925 rs144550375 GRCh37: 4:187004218-187004218
GRCh38: 4:186083064-186083064
4 TLR3 NM_003265.2(TLR3):c.1559A>G (p.Asn520Ser) SNV Uncertain significance 639936 rs1051348300 GRCh37: 4:187004399-187004399
GRCh38: 4:186083245-186083245
5 UNC93B1 NM_030930.4(UNC93B1):c.1138G>A (p.Val380Met) SNV Uncertain significance 641756 rs763186957 GRCh37: 11:67763307-67763307
GRCh38: 11:67995836-67995836
6 UNC93B1 NM_030930.4(UNC93B1):c.1121G>A (p.Arg374Gln) SNV Uncertain significance 642175 rs1346342774 GRCh37: 11:67763324-67763324
GRCh38: 11:67995853-67995853
7 TLR3 NM_003265.2(TLR3):c.1072G>A (p.Glu358Lys) SNV Uncertain significance 644312 rs1579731157 GRCh37: 4:187003912-187003912
GRCh38: 4:186082758-186082758
8 UNC93B1 NM_030930.4(UNC93B1):c.1657G>A (p.Glu553Lys) SNV Uncertain significance 644480 rs1433957500 GRCh37: 11:67759154-67759154
GRCh38: 11:67991683-67991683
9 TLR3 NM_003265.2(TLR3):c.1430C>T (p.Ala477Val) SNV Uncertain significance 646571 rs1579731513 GRCh37: 4:187004270-187004270
GRCh38: 4:186083116-186083116
10 TLR3 NM_003265.2(TLR3):c.71C>T (p.Ser24Phe) SNV Uncertain significance 647020 rs772953712 GRCh37: 4:186997844-186997844
GRCh38: 4:186076690-186076690
11 UNC93B1 NM_030930.4(UNC93B1):c.586T>C (p.Tyr196His) SNV Uncertain significance 647061 rs1590762298 GRCh37: 11:67766744-67766744
GRCh38: 11:67999274-67999274
12 UNC93B1 NM_030930.4(UNC93B1):c.1703G>A (p.Gly568Glu) SNV Uncertain significance 650678 rs2375181 GRCh37: 11:67759108-67759108
GRCh38: 11:67991637-67991637
13 UNC93B1 NM_030930.4(UNC93B1):c.818A>G (p.Lys273Arg) SNV Uncertain significance 650779 rs1318077413 GRCh37: 11:67765233-67765233
GRCh38: 11:67997763-67997763
14 TLR3 NM_003265.2(TLR3):c.442-6C>G SNV Uncertain significance 656183 rs371056976 GRCh37: 4:186999988-186999988
GRCh38: 4:186078834-186078834
15 TLR3 NM_003265.2(TLR3):c.266A>C (p.Lys89Thr) SNV Uncertain significance 656378 rs967601262 GRCh37: 4:186998039-186998039
GRCh38: 4:186076885-186076885
16 TLR3 NM_003265.3(TLR3):c.585del (p.Asn196fs) Deletion Uncertain significance 660033 rs1219003162 GRCh37: 4:187000136-187000136
GRCh38: 4:186078982-186078982
17 UNC93B1 NM_030930.4(UNC93B1):c.1482+2T>A SNV Uncertain significance 660100 rs1590758630 GRCh37: 11:67761145-67761145
GRCh38: 11:67993674-67993674
18 UNC93B1 NM_030930.4(UNC93B1):c.1726G>C (p.Ala576Pro) SNV Uncertain significance 663159 rs1330076422 GRCh37: 11:67759085-67759085
GRCh38: 11:67991614-67991614
19 UNC93B1 NM_030930.4(UNC93B1):c.1303C>A (p.Leu435Ile) SNV Uncertain significance 663535 rs1454865897 GRCh37: 11:67763142-67763142
GRCh38: 11:67995671-67995671
20 TLR3 NM_003265.2(TLR3):c.205G>A (p.Ala69Thr) SNV Uncertain significance 665949 rs762922535 GRCh37: 4:186997978-186997978
GRCh38: 4:186076824-186076824
21 UNC93B1 NM_030930.4(UNC93B1):c.409T>C (p.Trp137Arg) SNV Uncertain significance 470498 rs1554985993 GRCh37: 11:67767134-67767134
GRCh38: 11:67999664-67999664
22 UNC93B1 NM_030930.4(UNC93B1):c.923G>C (p.Gly308Ala) SNV Uncertain significance 537918 rs1442000007 GRCh37: 11:67764239-67764239
GRCh38: 11:67996768-67996768
23 TLR3 NM_003265.2(TLR3):c.655G>A (p.Ala219Thr) SNV Uncertain significance 567930 rs192016427 GRCh37: 4:187003495-187003495
GRCh38: 4:186082341-186082341
24 UNC93B1 NC_000011.9:g.(?_67758997)_(67759348_?)dup Duplication Uncertain significance 647947 GRCh37: 11:67758997-67759348
GRCh38: 11:67991526-67991877
25 TLR3 NM_003265.3(TLR3):c.1012A>G (p.Ile338Val) SNV Uncertain significance 847435 GRCh37: 4:187003852-187003852
GRCh38: 4:186082698-186082698
26 TLR3 NM_003265.3(TLR3):c.2710C>T (p.His904Tyr) SNV Uncertain significance 856926 GRCh37: 4:187006022-187006022
GRCh38: 4:186084868-186084868
27 UNC93B1 NM_030930.4(UNC93B1):c.1661G>A (p.Gly554Asp) SNV Uncertain significance 470493 rs2375179 GRCh37: 11:67759150-67759150
GRCh38: 11:67991679-67991679
28 TLR3 NM_003265.2(TLR3):c.1489A>G (p.Ser497Gly) SNV Uncertain significance 537920 rs369886993 GRCh37: 4:187004329-187004329
GRCh38: 4:186083175-186083175
29 TLR3 NM_003265.2(TLR3):c.1660C>T (p.Pro554Ser) SNV Uncertain significance 6662 rs121434431 GRCh37: 4:187004500-187004500
GRCh38: 4:186083346-186083346
30 UNC93B1 NM_030930.4(UNC93B1):c.1768G>A (p.Gly590Arg) SNV Uncertain significance 577794 rs2375182 GRCh37: 11:67759043-67759043
GRCh38: 11:67991572-67991572
31 TLR3 NM_003265.2(TLR3):c.2654G>A (p.Arg885Gln) SNV Uncertain significance 647522 rs759137034 GRCh37: 4:187005966-187005966
GRCh38: 4:186084812-186084812
32 UNC93B1 NM_030930.4(UNC93B1):c.998A>G (p.Lys333Arg) SNV Uncertain significance 651185 rs763133366 GRCh37: 11:67764164-67764164
GRCh38: 11:67996693-67996693
33 TLR3 NM_003265.2(TLR3):c.2384C>T (p.Ala795Val) SNV Uncertain significance 652556 rs373118024 GRCh37: 4:187005224-187005224
GRCh38: 4:186084070-186084070
34 UNC93B1 NM_030930.4(UNC93B1):c.1777G>A (p.Gly593Arg) SNV Uncertain significance 834530 GRCh37: 11:67759034-67759034
GRCh38: 11:67991563-67991563
35 UNC93B1 NM_030930.4(UNC93B1):c.1205C>T (p.Pro402Leu) SNV Uncertain significance 836872 GRCh37: 11:67763240-67763240
GRCh38: 11:67995769-67995769
36 UNC93B1 NM_030930.4(UNC93B1):c.96+3G>A SNV Uncertain significance 841496 GRCh37: 11:67771415-67771415
GRCh38: 11:68003945-68003945
37 TLR3 NM_003265.3(TLR3):c.458A>C (p.Asp153Ala) SNV Uncertain significance 843486 GRCh37: 4:187000010-187000010
GRCh38: 4:186078856-186078856
38 TLR3 NM_003265.3(TLR3):c.2405C>A (p.Ala802Glu) SNV Uncertain significance 844956 GRCh37: 4:187005245-187005245
GRCh38: 4:186084091-186084091
39 TLR3 NM_003265.3(TLR3):c.1986C>G (p.Asn662Lys) SNV Uncertain significance 852096 GRCh37: 4:187004826-187004826
GRCh38: 4:186083672-186083672
40 TLR3 NM_003265.3(TLR3):c.2516C>A (p.Ala839Asp) SNV Uncertain significance 857409 GRCh37: 4:187005828-187005828
GRCh38: 4:186084674-186084674
41 UNC93B1 NM_030930.4(UNC93B1):c.758C>T (p.Thr253Met) SNV Uncertain significance 860383 GRCh37: 11:67765852-67765852
GRCh38: 11:67998382-67998382
42 UNC93B1 NM_030930.4(UNC93B1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 862473 GRCh37: 11:67766690-67766690
GRCh38: 11:67999220-67999220
43 UNC93B1 NM_030930.4(UNC93B1):c.1363+4A>C SNV Uncertain significance 946914 GRCh37: 11:67763078-67763078
GRCh38: 11:67995607-67995607
44 TLR3 NM_003265.3(TLR3):c.2068C>A (p.Leu690Ile) SNV Uncertain significance 954829 GRCh37: 4:187004908-187004908
GRCh38: 4:186083754-186083754
45 TLR3 NM_003265.3(TLR3):c.109T>C (p.Cys37Arg) SNV Uncertain significance 956119 GRCh37: 4:186997882-186997882
GRCh38: 4:186076728-186076728
46 UNC93B1 NM_030930.4(UNC93B1):c.1626GGA[2] (p.Glu544del) Microsatellite Uncertain significance 958169 GRCh37: 11:67759177-67759179
GRCh38: 11:67991706-67991708
47 UNC93B1 NM_030930.4(UNC93B1):c.1078G>T (p.Gly360Cys) SNV Uncertain significance 962140 GRCh37: 11:67764084-67764084
GRCh38: 11:67996613-67996613
48 TLR3 NM_003265.3(TLR3):c.952_953del (p.Leu318fs) Deletion Uncertain significance 998451 GRCh37: 4:187003791-187003792
GRCh38: 4:186082637-186082638
49 UNC93B1 NM_030930.4(UNC93B1):c.1228G>A (p.Gly410Arg) SNV Uncertain significance 998770 GRCh37: 11:67763217-67763217
GRCh38: 11:67995746-67995746
50 UNC93B1 NM_030930.4(UNC93B1):c.871G>A (p.Val291Met) SNV Uncertain significance 999497 GRCh37: 11:67765180-67765180
GRCh38: 11:67997710-67997710
51 TLR3 NM_003265.3(TLR3):c.2260T>C (p.Phe754Leu) SNV Uncertain significance 1001571 GRCh37: 4:187005100-187005100
GRCh38: 4:186083946-186083946
52 TLR3 NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) SNV Uncertain significance 1002005 GRCh37: 4:187005911-187005911
GRCh38: 4:186084757-186084757
53 TLR3 NM_003265.3(TLR3):c.633G>C (p.Glu211Asp) SNV Uncertain significance 1002137 GRCh37: 4:187000185-187000185
GRCh38: 4:186079031-186079031
54 UNC93B1 NM_030930.4(UNC93B1):c.1636A>G (p.Asn546Asp) SNV Uncertain significance 1002427 GRCh37: 11:67759175-67759175
GRCh38: 11:67991704-67991704
55 UNC93B1 NM_030930.4(UNC93B1):c.1651G>A (p.Asp551Asn) SNV Uncertain significance 1002681 GRCh37: 11:67759160-67759160
GRCh38: 11:67991689-67991689
56 TLR3 NM_003265.3(TLR3):c.448A>T (p.Ile150Phe) SNV Uncertain significance 1004752 GRCh37: 4:187000000-187000000
GRCh38: 4:186078846-186078846
57 TLR3 NM_003265.3(TLR3):c.1891G>A (p.Gly631Arg) SNV Uncertain significance 1005411 GRCh37: 4:187004731-187004731
GRCh38: 4:186083577-186083577
58 UNC93B1 NM_030930.4(UNC93B1):c.252G>A (p.Met84Ile) SNV Uncertain significance 1007625 GRCh37: 11:67770632-67770632
GRCh38: 11:68003162-68003162
59 UNC93B1 NM_030930.4(UNC93B1):c.125A>G (p.Asn42Ser) SNV Uncertain significance 1008482 GRCh37: 11:67771240-67771240
GRCh38: 11:68003770-68003770
60 TLR3 NM_003265.3(TLR3):c.1884G>C (p.Lys628Asn) SNV Uncertain significance 1009348 GRCh37: 4:187004724-187004724
GRCh38: 4:186083570-186083570
61 TLR3 NM_003265.3(TLR3):c.2542A>C (p.Ile848Leu) SNV Uncertain significance 1009923 GRCh37: 4:187005854-187005854
GRCh38: 4:186084700-186084700
62 TLR3 NM_003265.3(TLR3):c.415A>T (p.Lys139Ter) SNV Uncertain significance 1011112 GRCh37: 4:186998188-186998188
GRCh38: 4:186077034-186077034
63 UNC93B1 NM_030930.4(UNC93B1):c.1488G>T (p.Lys496Asn) SNV Uncertain significance 1011222 GRCh37: 11:67759323-67759323
GRCh38: 11:67991852-67991852
64 TLR3 NM_003265.3(TLR3):c.1684T>C (p.Ser562Pro) SNV Uncertain significance 1011967 GRCh37: 4:187004524-187004524
GRCh38: 4:186083370-186083370
65 TLR3 NM_003265.3(TLR3):c.1976A>G (p.Asn659Ser) SNV Uncertain significance 1012014 GRCh37: 4:187004816-187004816
GRCh38: 4:186083662-186083662
66 UNC93B1 NM_030930.4(UNC93B1):c.1210C>T (p.Pro404Ser) SNV Uncertain significance 537922 rs377021545 GRCh37: 11:67763235-67763235
GRCh38: 11:67995764-67995764
67 TLR3 NM_003265.2(TLR3):c.554C>T (p.Ala185Val) SNV Uncertain significance 570922 rs35140061 GRCh37: 4:187000106-187000106
GRCh38: 4:186078952-186078952
68 TLR3 NM_003265.2(TLR3):c.2371A>G (p.Arg791Gly) SNV Uncertain significance 641529 rs200214332 GRCh37: 4:187005211-187005211
GRCh38: 4:186084057-186084057
69 UNC93B1 NM_030930.4(UNC93B1):c.1735G>C (p.Gly579Arg) SNV Uncertain significance 645257 rs1332464949 GRCh37: 11:67759076-67759076
GRCh38: 11:67991605-67991605
70 UNC93B1 NM_030930.4(UNC93B1):c.654G>A (p.Leu218=) SNV Uncertain significance 645974 rs562832097 GRCh37: 11:67766676-67766676
GRCh38: 11:67999206-67999206
71 UNC93B1 NM_030930.4(UNC93B1):c.193C>G (p.Leu65Val) SNV Uncertain significance 654962 rs376191930 GRCh37: 11:67771172-67771172
GRCh38: 11:68003702-68003702
72 TLR3 NM_003265.3(TLR3):c.755A>G (p.Asn252Ser) SNV Uncertain significance 834812 GRCh37: 4:187003595-187003595
GRCh38: 4:186082441-186082441
73 TLR3 NM_003265.3(TLR3):c.1927C>T (p.Arg643Cys) SNV Uncertain significance 838950 GRCh37: 4:187004767-187004767
GRCh38: 4:186083613-186083613
74 TLR3 NM_003265.3(TLR3):c.1488T>A (p.Asp496Glu) SNV Uncertain significance 839731 GRCh37: 4:187004328-187004328
GRCh38: 4:186083174-186083174
75 UNC93B1 NM_030930.4(UNC93B1):c.1201C>T (p.Arg401Cys) SNV Uncertain significance 841919 GRCh37: 11:67763244-67763244
GRCh38: 11:67995773-67995773
76 UNC93B1 NM_030930.4(UNC93B1):c.151C>G (p.Arg51Gly) SNV Uncertain significance 844807 GRCh37: 11:67771214-67771214
GRCh38: 11:68003744-68003744
77 UNC93B1 NM_030930.4(UNC93B1):c.1156G>A (p.Ala386Thr) SNV Uncertain significance 851855 GRCh37: 11:67763289-67763289
GRCh38: 11:67995818-67995818
78 TLR3 NM_003265.3(TLR3):c.157A>C (p.Ile53Leu) SNV Uncertain significance 851938 GRCh37: 4:186997930-186997930
GRCh38: 4:186076776-186076776
79 UNC93B1 NM_030930.4(UNC93B1):c.1635C>A (p.Asp545Glu) SNV Uncertain significance 857970 GRCh37: 11:67759176-67759176
GRCh38: 11:67991705-67991705
80 UNC93B1 NM_030930.4(UNC93B1):c.1090-5C>A SNV Uncertain significance 940213 GRCh37: 11:67763360-67763360
GRCh38: 11:67995889-67995889
81 UNC93B1 NM_030930.4(UNC93B1):c.470G>A (p.Arg157His) SNV Uncertain significance 941008 GRCh37: 11:67767073-67767073
GRCh38: 11:67999603-67999603
82 TLR3 NM_003265.3(TLR3):c.1038T>A (p.Ile346=) SNV Uncertain significance 943473 GRCh37: 4:187003878-187003878
GRCh38: 4:186082724-186082724
83 UNC93B1 NM_030930.4(UNC93B1):c.1062_1064dup (p.Leu355dup) Duplication Uncertain significance 943814 GRCh37: 11:67764097-67764098
GRCh38: 11:67996626-67996627
84 TLR3 NM_003265.3(TLR3):c.1142T>C (p.Leu381Pro) SNV Uncertain significance 947012 GRCh37: 4:187003982-187003982
GRCh38: 4:186082828-186082828
85 UNC93B1 NM_030930.4(UNC93B1):c.1373G>A (p.Gly458Glu) SNV Uncertain significance 955611 GRCh37: 11:67761256-67761256
GRCh38: 11:67993785-67993785
86 TLR3 NM_003265.3(TLR3):c.343del (p.Ser115fs) Deletion Uncertain significance 963555 GRCh37: 4:186998114-186998114
GRCh38: 4:186076960-186076960
87 TLR3 NM_003265.3(TLR3):c.653A>G (p.His218Arg) SNV Uncertain significance 1018006 GRCh37: 4:187003493-187003493
GRCh38: 4:186082339-186082339
88 TLR3 NM_003265.3(TLR3):c.2324C>A (p.Ser775Tyr) SNV Uncertain significance 1018369 GRCh37: 4:187005164-187005164
GRCh38: 4:186084010-186084010
89 TLR3 NM_003265.3(TLR3):c.86C>T (p.Thr29Ile) SNV Uncertain significance 1018948 GRCh37: 4:186997859-186997859
GRCh38: 4:186076705-186076705
90 TLR3 NM_003265.3(TLR3):c.293T>A (p.Leu98His) SNV Uncertain significance 1019053 GRCh37: 4:186998066-186998066
GRCh38: 4:186076912-186076912
91 TLR3 NM_003265.3(TLR3):c.1528A>G (p.Ile510Val) SNV Uncertain significance 1019874 GRCh37: 4:187004368-187004368
GRCh38: 4:186083214-186083214
92 TLR3 NM_003265.3(TLR3):c.392T>C (p.Met131Thr) SNV Uncertain significance 1020354 GRCh37: 4:186998165-186998165
GRCh38: 4:186077011-186077011
93 UNC93B1 NM_030930.4(UNC93B1):c.1733T>G (p.Leu578Arg) SNV Uncertain significance 1021202 GRCh37: 11:67759078-67759078
GRCh38: 11:67991607-67991607
94 TLR3 NM_003265.3(TLR3):c.2158G>A (p.Val720Ile) SNV Uncertain significance 1021986 GRCh37: 4:187004998-187004998
GRCh38: 4:186083844-186083844
95 UNC93B1 NM_030930.4(UNC93B1):c.136G>A (p.Glu46Lys) SNV Uncertain significance 1022414 GRCh37: 11:67771229-67771229
GRCh38: 11:68003759-68003759
96 TLR3 NM_003265.3(TLR3):c.2291A>G (p.Tyr764Cys) SNV Uncertain significance 1025620 GRCh37: 4:187005131-187005131
GRCh38: 4:186083977-186083977
97 UNC93B1 NM_030930.4(UNC93B1):c.96+6C>A SNV Uncertain significance 1026867 GRCh37: 11:67771412-67771412
GRCh38: 11:68003942-68003942
98 UNC93B1 NM_030930.4(UNC93B1):c.1594C>A (p.Pro532Thr) SNV Uncertain significance 470492 rs543443741 GRCh37: 11:67759217-67759217
GRCh38: 11:67991746-67991746
99 TLR3 NM_003265.2(TLR3):c.958G>A (p.Gly320Arg) SNV Uncertain significance 537919 rs554658931 GRCh37: 4:187003798-187003798
GRCh38: 4:186082644-186082644
100 TLR3 NM_003265.2(TLR3):c.2693G>A (p.Gly898Glu) SNV Uncertain significance 565376 rs912144507 GRCh37: 4:187006005-187006005
GRCh38: 4:186084851-186084851
101 UNC93B1 NM_030930.4(UNC93B1):c.958C>T (p.Arg320Cys) SNV Uncertain significance 569232 rs1565124797 GRCh37: 11:67764204-67764204
GRCh38: 11:67996733-67996733
102 TLR3 NM_003265.2(TLR3):c.176C>A (p.Thr59Asn) SNV Uncertain significance 569628 rs143307508 GRCh37: 4:186997949-186997949
GRCh38: 4:186076795-186076795
103 TLR3 NM_003265.2(TLR3):c.1774G>A (p.Asp592Asn) SNV Uncertain significance 641316 rs184426724 GRCh37: 4:187004614-187004614
GRCh38: 4:186083460-186083460
104 UNC93B1 NM_030930.4(UNC93B1):c.667A>G (p.Ile223Val) SNV Uncertain significance 644581 rs377418903 GRCh37: 11:67766663-67766663
GRCh38: 11:67999193-67999193
105 UNC93B1 NM_030930.4(UNC93B1):c.424G>A (p.Ala142Thr) SNV Uncertain significance 652648 rs190159924 GRCh37: 11:67767119-67767119
GRCh38: 11:67999649-67999649
106 TLR3 NM_003265.3(TLR3):c.1987G>A (p.Glu663Lys) SNV Uncertain significance 842830 GRCh37: 4:187004827-187004827
GRCh38: 4:186083673-186083673
107 UNC93B1 NM_030930.4(UNC93B1):c.1647G>T (p.Glu549Asp) SNV Uncertain significance 844361 GRCh37: 11:67759164-67759164
GRCh38: 11:67991693-67991693
108 TLR3 NM_003265.3(TLR3):c.1028T>C (p.Leu343Pro) SNV Uncertain significance 845866 GRCh37: 4:187003868-187003868
GRCh38: 4:186082714-186082714
109 TLR3 NM_003265.3(TLR3):c.851A>T (p.Asn284Ile) SNV Uncertain significance 848389 GRCh37: 4:187003691-187003691
GRCh38: 4:186082537-186082537
110 UNC93B1 NM_030930.4(UNC93B1):c.1A>G (p.Met1Val) SNV Uncertain significance 850878 GRCh37: 11:67771513-67771513
GRCh38: 11:68004043-68004043
111 UNC93B1 NM_030930.4(UNC93B1):c.1504G>T (p.Val502Leu) SNV Uncertain significance 856121 GRCh37: 11:67759307-67759307
GRCh38: 11:67991836-67991836
112 TLR3 NM_003265.3(TLR3):c.874G>A (p.Asp292Asn) SNV Uncertain significance 860930 GRCh37: 4:187003714-187003714
GRCh38: 4:186082560-186082560
113 UNC93B1 NM_030930.4(UNC93B1):c.1215_1216delinsCA (p.Val406Met) Indel Uncertain significance 862616 GRCh37: 11:67763229-67763230
GRCh38: 11:67995758-67995759
114 UNC93B1 NM_030930.4(UNC93B1):c.1279C>T (p.Arg427Trp) SNV Uncertain significance 863426 GRCh37: 11:67763166-67763166
GRCh38: 11:67995695-67995695
115 UNC93B1 NM_030930.4(UNC93B1):c.1785G>C (p.Glu595Asp) SNV Uncertain significance 933307 GRCh37: 11:67759026-67759026
GRCh38: 11:67991555-67991555
116 TLR3 NM_003265.3(TLR3):c.2615A>G (p.Lys872Arg) SNV Uncertain significance 937629 GRCh37: 4:187005927-187005927
GRCh38: 4:186084773-186084773
117 UNC93B1 NM_030930.4(UNC93B1):c.4G>C (p.Glu2Gln) SNV Uncertain significance 938002 GRCh37: 11:67771510-67771510
GRCh38: 11:68004040-68004040
118 TLR3 NM_003265.3(TLR3):c.2164C>G (p.Leu722Val) SNV Uncertain significance 938177 GRCh37: 4:187005004-187005004
GRCh38: 4:186083850-186083850
119 TLR3 NM_003265.3(TLR3):c.2015C>G (p.Ser672Ter) SNV Uncertain significance 946780 GRCh37: 4:187004855-187004855
GRCh38: 4:186083701-186083701
120 UNC93B1 NM_030930.4(UNC93B1):c.1717C>G (p.Pro573Ala) SNV Uncertain significance 950015 GRCh37: 11:67759094-67759094
GRCh38: 11:67991623-67991623
121 TLR3 NM_003265.3(TLR3):c.1385A>T (p.Tyr462Phe) SNV Uncertain significance 952606 GRCh37: 4:187004225-187004225
GRCh38: 4:186083071-186083071
122 TLR3 NM_003265.3(TLR3):c.499C>T (p.Gln167Ter) SNV Uncertain significance 953591 GRCh37: 4:187000051-187000051
GRCh38: 4:186078897-186078897
123 UNC93B1 NM_030930.4(UNC93B1):c.160C>A (p.Arg54Ser) SNV Uncertain significance 960684 GRCh37: 11:67771205-67771205
GRCh38: 11:68003735-68003735
124 TLR3 NM_003265.3(TLR3):c.2102C>T (p.Pro701Leu) SNV Uncertain significance 960984 GRCh37: 4:187004942-187004942
GRCh38: 4:186083788-186083788
125 UNC93B1 NM_030930.4(UNC93B1):c.1282G>A (p.Val428Ile) SNV Uncertain significance 966999 GRCh37: 11:67763163-67763163
GRCh38: 11:67995692-67995692
126 UNC93B1 NM_030930.4(UNC93B1):c.479C>T (p.Thr160Met) SNV Uncertain significance 969937 GRCh37: 11:67767064-67767064
GRCh38: 11:67999594-67999594
127 TLR3 NM_003265.3(TLR3):c.259A>G (p.Ile87Val) SNV Uncertain significance 1034989 GRCh37: 4:186998032-186998032
GRCh38: 4:186076878-186076878
128 TLR3 NM_003265.3(TLR3):c.2426G>A (p.Arg809Lys) SNV Uncertain significance 1035243 GRCh37: 4:187005266-187005266
GRCh38: 4:186084112-186084112
129 TLR3 NM_003265.3(TLR3):c.2051A>G (p.His684Arg) SNV Uncertain significance 1035842 GRCh37: 4:187004891-187004891
GRCh38: 4:186083737-186083737
130 TLR3 NM_003265.3(TLR3):c.1181G>A (p.Arg394Gln) SNV Uncertain significance 1036149 GRCh37: 4:187004021-187004021
GRCh38: 4:186082867-186082867
131 UNC93B1 NM_030930.4(UNC93B1):c.1742G>T (p.Arg581Leu) SNV Uncertain significance 1036399 GRCh37: 11:67759069-67759069
GRCh38: 11:67991598-67991598
132 UNC93B1 NM_030930.4(UNC93B1):c.1364-6C>G SNV Uncertain significance 1037665 GRCh37: 11:67761271-67761271
GRCh38: 11:67993800-67993800
133 TLR3 NM_003265.3(TLR3):c.1015T>G (p.Ser339Ala) SNV Uncertain significance 1037895 GRCh37: 4:187003855-187003855
GRCh38: 4:186082701-186082701
134 TLR3 NM_003265.3(TLR3):c.368C>T (p.Thr123Met) SNV Uncertain significance 1038930 GRCh37: 4:186998141-186998141
GRCh38: 4:186076987-186076987
135 TLR3 NM_003265.3(TLR3):c.1140C>A (p.Asn380Lys) SNV Uncertain significance 1041149 GRCh37: 4:187003980-187003980
GRCh38: 4:186082826-186082826
136 TLR3 NM_003265.3(TLR3):c.2711A>T (p.His904Leu) SNV Uncertain significance 1042211 GRCh37: 4:187006023-187006023
GRCh38: 4:186084869-186084869
137 UNC93B1 NM_030930.4(UNC93B1):c.1123C>G (p.Leu375Val) SNV Uncertain significance 1042755 GRCh37: 11:67763322-67763322
GRCh38: 11:67995851-67995851
138 UNC93B1 NM_030930.4(UNC93B1):c.664G>A (p.Ala222Thr) SNV Uncertain significance 1042869 GRCh37: 11:67766666-67766666
GRCh38: 11:67999196-67999196
139 TLR3 NM_003265.3(TLR3):c.749T>C (p.Ile250Thr) SNV Uncertain significance 1042879 GRCh37: 4:187003589-187003589
GRCh38: 4:186082435-186082435
140 TLR3 NM_003265.3(TLR3):c.1468G>T (p.Val490Leu) SNV Uncertain significance 1045374 GRCh37: 4:187004308-187004308
GRCh38: 4:186083154-186083154
141 UNC93B1 NM_030930.4(UNC93B1):c.1791G>C (p.Gln597His) SNV Uncertain significance 1045613 GRCh37: 11:67759020-67759020
GRCh38: 11:67991549-67991549
142 UNC93B1 NM_030930.4(UNC93B1):c.1384G>A (p.Glu462Lys) SNV Uncertain significance 1046230 GRCh37: 11:67761245-67761245
GRCh38: 11:67993774-67993774
143 UNC93B1 NM_030930.4(UNC93B1):c.133GAG[4] (p.Glu49del) Microsatellite Uncertain significance 1046746 GRCh37: 11:67771218-67771220
GRCh38: 11:68003748-68003750
144 UNC93B1 NM_030930.4(UNC93B1):c.190G>A (p.Val64Met) SNV Uncertain significance 638935 rs370865340 GRCh37: 11:67771175-67771175
GRCh38: 11:68003705-68003705
145 TLR3 NM_003265.2(TLR3):c.1928G>A (p.Arg643His) SNV Uncertain significance 643822 rs150315296 GRCh37: 4:187004768-187004768
GRCh38: 4:186083614-186083614
146 TLR3 NM_003265.2(TLR3):c.1234C>G (p.Leu412Val) SNV Uncertain significance 656784 rs3775291 GRCh37: 4:187004074-187004074
GRCh38: 4:186082920-186082920
147 UNC93B1 NM_030930.4(UNC93B1):c.491C>T (p.Ser164Leu) SNV Uncertain significance 665493 rs201765730 GRCh37: 11:67767052-67767052
GRCh38: 11:67999582-67999582
148 UNC93B1 NM_030930.4(UNC93B1):c.1640C>T (p.Ser547Leu) SNV Uncertain significance 842740 GRCh37: 11:67759171-67759171
GRCh38: 11:67991700-67991700
149 TLR3 NM_003265.3(TLR3):c.1984A>C (p.Asn662His) SNV Uncertain significance 843484 GRCh37: 4:187004824-187004824
GRCh38: 4:186083670-186083670
150 TLR3 NM_003265.3(TLR3):c.1613A>C (p.Gln538Pro) SNV Uncertain significance 845774 GRCh37: 4:187004453-187004453
GRCh38: 4:186083299-186083299
151 UNC93B1 NM_030930.4(UNC93B1):c.532T>G (p.Ser178Ala) SNV Uncertain significance 850695 GRCh37: 11:67767011-67767011
GRCh38: 11:67999541-67999541
152 UNC93B1 NM_030930.4(UNC93B1):c.1633_1634delinsTT (p.Asp545Phe) Indel Uncertain significance 860382 GRCh37: 11:67759177-67759178
GRCh38: 11:67991706-67991707
153 UNC93B1 NM_030930.4(UNC93B1):c.148C>A (p.Arg50Ser) SNV Uncertain significance 626042 rs934872284 GRCh37: 11:67771217-67771217
GRCh38: 11:68003747-68003747
154 UNC93B1 NM_030930.4(UNC93B1):c.1675G>C (p.Gly559Arg) SNV Uncertain significance 946257 GRCh37: 11:67759136-67759136
GRCh38: 11:67991665-67991665
155 UNC93B1 NM_030930.4(UNC93B1):c.949A>G (p.Ile317Val) SNV Uncertain significance 952318 GRCh37: 11:67764213-67764213
GRCh38: 11:67996742-67996742
156 TLR3 NM_003265.3(TLR3):c.467A>G (p.His156Arg) SNV Uncertain significance 955793 GRCh37: 4:187000019-187000019
GRCh38: 4:186078865-186078865
157 UNC93B1 NM_030930.4(UNC93B1):c.226G>A (p.Gly76Ser) SNV Uncertain significance 957021 GRCh37: 11:67771139-67771139
GRCh38: 11:68003669-68003669
158 TLR3 NM_003265.3(TLR3):c.1510C>G (p.Pro504Ala) SNV Uncertain significance 958736 GRCh37: 4:187004350-187004350
GRCh38: 4:186083196-186083196
159 TLR3 NM_003265.3(TLR3):c.242A>G (p.Asp81Gly) SNV Uncertain significance 971924 GRCh37: 4:186998015-186998015
GRCh38: 4:186076861-186076861
160 TLR3 NM_003265.3(TLR3):c.1231A>G (p.Ile411Val) SNV Uncertain significance 1051221 GRCh37: 4:187004071-187004071
GRCh38: 4:186082917-186082917
161 TLR3 NM_003265.3(TLR3):c.17C>T (p.Pro6Leu) SNV Uncertain significance 1051423 GRCh37: 4:186997790-186997790
GRCh38: 4:186076636-186076636
162 UNC93B1 NM_030930.4(UNC93B1):c.1106C>T (p.Ser369Leu) SNV Uncertain significance 1051724 GRCh37: 11:67763339-67763339
GRCh38: 11:67995868-67995868
163 UNC93B1 NM_030930.4(UNC93B1):c.1768G>C (p.Gly590Arg) SNV Uncertain significance 1052109 GRCh37: 11:67759043-67759043
GRCh38: 11:67991572-67991572
164 TLR3 NM_003265.3(TLR3):c.821C>T (p.Thr274Ile) SNV Uncertain significance 1052373 GRCh37: 4:187003661-187003661
GRCh38: 4:186082507-186082507
165 TLR3 NM_003265.3(TLR3):c.1546A>G (p.Asn516Asp) SNV Uncertain significance 1053533 GRCh37: 4:187004386-187004386
GRCh38: 4:186083232-186083232
166 UNC93B1 NM_030930.4(UNC93B1):c.1466C>T (p.Ser489Leu) SNV Uncertain significance 1054392 GRCh37: 11:67761163-67761163
GRCh38: 11:67993692-67993692
167 UNC93B1 NM_030930.4(UNC93B1):c.382G>T (p.Val128Leu) SNV Uncertain significance 1054537 GRCh37: 11:67770502-67770502
GRCh38: 11:68003032-68003032
168 UNC93B1 NM_030930.4(UNC93B1):c.439G>T (p.Ala147Ser) SNV Uncertain significance 1055552 GRCh37: 11:67767104-67767104
GRCh38: 11:67999634-67999634
169 TLR3 NM_003265.3(TLR3):c.934C>A (p.His312Asn) SNV Uncertain significance 1055810 GRCh37: 4:187003774-187003774
GRCh38: 4:186082620-186082620
170 UNC93B1 NM_030930.4(UNC93B1):c.274G>A (p.Glu92Lys) SNV Uncertain significance 1060974 GRCh37: 11:67770610-67770610
GRCh38: 11:68003140-68003140
171 TLR3 NM_003265.3(TLR3):c.2059C>G (p.Pro687Ala) SNV Uncertain significance 1061570 GRCh37: 4:187004899-187004899
GRCh38: 4:186083745-186083745
172 TLR3 NC_000004.11:g.(?_186997754)_(187006047_?)dup Duplication Uncertain significance 583483 GRCh37: 4:186997754-187006047
GRCh38: 4:186076600-186084893
173 TLR3 NM_003265.3(TLR3):c.994T>C (p.Ser332Pro) SNV Uncertain significance 936672 GRCh37: 4:187003834-187003834
GRCh38: 4:186082680-186082680
174 TLR3 NM_003265.3(TLR3):c.2680C>A (p.Gln894Lys) SNV Uncertain significance 954596 GRCh37: 4:187005992-187005992
GRCh38: 4:186084838-186084838
175 UNC93B1 NM_030930.4(UNC93B1):c.907G>A (p.Val303Met) SNV Uncertain significance 970611 GRCh37: 11:67764255-67764255
GRCh38: 11:67996784-67996784
176 TLR3 NM_003265.2(TLR3):c.2265A>G (p.Glu755=) SNV Uncertain significance 470482 rs1554064947 GRCh37: 4:187005105-187005105
GRCh38: 4:186083951-186083951
177 TLR3 NM_003265.2(TLR3):c.2497C>T (p.His833Tyr) SNV Uncertain significance 537921 rs1460329308 GRCh37: 4:187005809-187005809
GRCh38: 4:186084655-186084655
178 UNC93B1 NM_030930.4(UNC93B1):c.618G>T (p.Gln206His) SNV Uncertain significance 570478 rs1435279681 GRCh37: 11:67766712-67766712
GRCh38: 11:67999242-67999242
179 TLR3 NM_003265.2(TLR3):c.2228G>A (p.Gly743Asp) SNV Uncertain significance 496586 rs1280549921 GRCh37: 4:187005068-187005068
GRCh38: 4:186083914-186083914
180 TLR3 NM_003265.2(TLR3):c.1471G>A (p.Ala491Thr) SNV Uncertain significance 571537 rs745682135 GRCh37: 4:187004311-187004311
GRCh38: 4:186083157-186083157
181 TLR3 NM_003265.2(TLR3):c.1854del (p.Lys619fs) Deletion Uncertain significance 578897 rs1561372514 GRCh37: 4:187004694-187004694
GRCh38: 4:186083540-186083540
182 UNC93B1 NM_030930.4(UNC93B1):c.748C>A (p.Leu250Met) SNV Uncertain significance 579227 rs758127182 GRCh37: 11:67765862-67765862
GRCh38: 11:67998392-67998392
183 UNC93B1 NC_000011.9:g.(?_67758997)_(67761285_?)dup Duplication Uncertain significance 583773 GRCh37: 11:67758997-67761285
GRCh38: 11:67991526-67993814
184 UNC93B1 NM_030930.4(UNC93B1):c.1792T>G (p.Ter598Gly) SNV Uncertain significance 666065 rs1590757014 GRCh37: 11:67759019-67759019
GRCh38: 11:67991548-67991548
185 UNC93B1 NM_030930.4(UNC93B1):c.1467G>A (p.Ser489=) SNV Likely benign 784570 rs201959670 GRCh37: 11:67761162-67761162
GRCh38: 11:67993691-67993691
186 TLR3 NM_003265.2(TLR3):c.2079A>C (p.Thr693=) SNV Likely benign 537934 rs1362142505 GRCh37: 4:187004919-187004919
GRCh38: 4:186083765-186083765
187 TLR3 NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe) SNV Likely benign 747532 rs201222071 GRCh37: 4:187004425-187004425
GRCh38: 4:186083271-186083271
188 TLR3 NM_003265.2(TLR3):c.34G>C (p.Gly12Arg) SNV Likely benign 470484 rs199539539 GRCh37: 4:186997807-186997807
GRCh38: 4:186076653-186076653
189 UNC93B1 NM_030930.4(UNC93B1):c.135G>A (p.Glu45=) SNV Likely benign 470490 rs572359733 GRCh37: 11:67771230-67771230
GRCh38: 11:68003760-68003760
190 UNC93B1 NM_030930.4(UNC93B1):c.642G>A (p.Ala214=) SNV Likely benign 470500 rs201137048 GRCh37: 11:67766688-67766688
GRCh38: 11:67999218-67999218
191 TLR3 NM_003265.2(TLR3):c.889C>G (p.Leu297Val) SNV Likely benign 495314 rs35311343 GRCh37: 4:187003729-187003729
GRCh38: 4:186082575-186082575
192 TLR3 NM_003265.2(TLR3):c.1834C>T (p.Leu612=) SNV Likely benign 537927 rs781622881 GRCh37: 4:187004674-187004674
GRCh38: 4:186083520-186083520
193 TLR3 NM_003265.2(TLR3):c.957C>A (p.His319Gln) SNV Likely benign 537928 rs144596374 GRCh37: 4:187003797-187003797
GRCh38: 4:186082643-186082643
194 UNC93B1 NM_030930.4(UNC93B1):c.1560G>C (p.Arg520=) SNV Likely benign 537929 rs555389039 GRCh37: 11:67759251-67759251
GRCh38: 11:67991780-67991780
195 UNC93B1 NM_030930.4(UNC93B1):c.1629G>A (p.Glu543=) SNV Likely benign 537930 rs576491436 GRCh37: 11:67759182-67759182
GRCh38: 11:67991711-67991711
196 UNC93B1 NM_030930.4(UNC93B1):c.87C>T (p.Pro29=) SNV Likely benign 537935 rs937751489 GRCh37: 11:67771427-67771427
GRCh38: 11:68003957-68003957
197 TLR3 NM_003265.2(TLR3):c.2011C>T (p.Leu671=) SNV Likely benign 537936 rs144019953 GRCh37: 4:187004851-187004851
GRCh38: 4:186083697-186083697
198 UNC93B1 NM_030930.4(UNC93B1):c.1090-6C>A SNV Likely benign 537937 rs1168664658 GRCh37: 11:67763361-67763361
GRCh38: 11:67995890-67995890
199 TLR3 NM_003265.3(TLR3):c.44T>G (p.Leu15Trp) SNV Likely benign 714646 rs149602022 GRCh37: 4:186997817-186997817
GRCh38: 4:186076663-186076663
200 UNC93B1 NM_030930.4(UNC93B1):c.1242G>C (p.Leu414=) SNV Likely benign 714804 rs1259991700 GRCh37: 11:67763203-67763203
GRCh38: 11:67995732-67995732
201 UNC93B1 NM_030930.4(UNC93B1):c.444C>T (p.Leu148=) SNV Likely benign 715291 rs368427313 GRCh37: 11:67767099-67767099
GRCh38: 11:67999629-67999629
202 UNC93B1 NM_030930.4(UNC93B1):c.1206G>A (p.Pro402=) SNV Likely benign 745489 rs112284414 GRCh37: 11:67763239-67763239
GRCh38: 11:67995768-67995768
203 TLR3 NM_003265.3(TLR3):c.1295A>G (p.His432Arg) SNV Likely benign 746638 rs145303119 GRCh37: 4:187004135-187004135
GRCh38: 4:186082981-186082981
204 UNC93B1 NM_030930.4(UNC93B1):c.75C>A (p.Val25=) SNV Likely benign 761948 rs1354326862 GRCh37: 11:67771439-67771439
GRCh38: 11:68003969-68003969
205 TLR3 NM_003265.3(TLR3):c.900A>G (p.Leu300=) SNV Likely benign 763287 rs147829071 GRCh37: 4:187003740-187003740
GRCh38: 4:186082586-186082586
206 UNC93B1 NM_030930.4(UNC93B1):c.1779G>A (p.Gly593=) SNV Likely benign 537940 rs2375183 GRCh37: 11:67759032-67759032
GRCh38: 11:67991561-67991561
207 UNC93B1 NM_030930.4(UNC93B1):c.1720G>C (p.Glu574Gln) SNV Likely benign 583008 rs567070908 GRCh37: 11:67759091-67759091
GRCh38: 11:67991620-67991620
208 UNC93B1 NM_030930.4(UNC93B1):c.1724C>A (p.Pro575His) SNV Likely benign 782777 rs535779712 GRCh37: 11:67759087-67759087
GRCh38: 11:67991616-67991616
209 UNC93B1 NM_030930.4(UNC93B1):c.97-6T>C SNV Likely benign 791682 rs755041549 GRCh37: 11:67771274-67771274
GRCh38: 11:68003804-68003804
210 TLR3 NM_003265.3(TLR3):c.442-8C>T SNV Likely benign 793114 rs1579728263 GRCh37: 4:186999986-186999986
GRCh38: 4:186078832-186078832
211 UNC93B1 NM_030930.4(UNC93B1):c.438C>T (p.Tyr146=) SNV Likely benign 797807 rs377018744 GRCh37: 11:67767105-67767105
GRCh38: 11:67999635-67999635
212 TLR3 NM_003265.3(TLR3):c.798A>G (p.Thr266=) SNV Likely benign 798754 rs773691155 GRCh37: 4:187003638-187003638
GRCh38: 4:186082484-186082484
213 UNC93B1 NM_030930.4(UNC93B1):c.393-10C>T SNV Benign/Likely benign 403595 rs117183629 GRCh37: 11:67767160-67767160
GRCh38: 11:67999690-67999690
214 UNC93B1 NM_030930.4(UNC93B1):c.97-8G>T SNV Benign 785364 rs539458551 GRCh37: 11:67771276-67771276
GRCh38: 11:68003806-68003806
215 TLR3 NM_003265.3(TLR3):c.612G>A (p.Leu204=) SNV Benign 786785 rs5743311 GRCh37: 4:187000164-187000164
GRCh38: 4:186079010-186079010
216 UNC93B1 NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln) Indel Benign 470494 rs1554984685 GRCh37: 11:67759086-67759087
GRCh38: 11:67991615-67991616
217 UNC93B1 NM_030930.4(UNC93B1):c.1090-10dup Duplication Benign 537933 rs760132599 GRCh37: 11:67763359-67763360
GRCh38: 11:67995888-67995889
218 TLR3 NM_003265.3(TLR3):c.2217T>C (p.His739=) SNV Benign 783433 rs116269970 GRCh37: 4:187005057-187005057
GRCh38: 4:186083903-186083903
219 UNC93B1 NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=) SNV Benign 779602 rs371738908 GRCh37: 11:67761180-67761180
GRCh38: 11:67993709-67993709
220 UNC93B1 NM_030930.4(UNC93B1):c.1772G>A (p.Gly591Glu) SNV Benign 779710 rs531159136 GRCh37: 11:67759039-67759039
GRCh38: 11:67991568-67991568
221 UNC93B1 NM_030930.4(UNC93B1):c.1725C>G (p.Pro575=) SNV Benign 782776 rs568350079 GRCh37: 11:67759086-67759086
GRCh38: 11:67991615-67991615
222 TLR3 NM_003265.3(TLR3):c.1284T>G (p.Ser428=) SNV Benign 715345 rs148445556 GRCh37: 4:187004124-187004124
GRCh38: 4:186082970-186082970
223 TLR3 NM_003265.3(TLR3):c.1683G>A (p.Leu561=) SNV Benign 744910 rs571300094 GRCh37: 4:187004523-187004523
GRCh38: 4:186083369-186083369
224 UNC93B1 NM_030930.4(UNC93B1):c.96+10G>A SNV Benign 708140 rs188940236 GRCh37: 11:67771408-67771408
GRCh38: 11:68003938-68003938
225 TLR3 NM_003265.3(TLR3):c.2664C>T (p.Ala888=) SNV Benign 713149 rs5743320 GRCh37: 4:187005976-187005976
GRCh38: 4:186084822-186084822
226 UNC93B1 NM_030930.4(UNC93B1):c.239-6C>T SNV Benign 537939 rs182093266 GRCh37: 11:67770651-67770651
GRCh38: 11:68003181-68003181
227 UNC93B1 NM_030930.4(UNC93B1):c.1557C>G (p.Arg519=) SNV Benign 537932 rs7149 GRCh37: 11:67759254-67759254
GRCh38: 11:67991783-67991783
228 TLR3 NM_003265.2(TLR3):c.634-10C>A SNV Benign 537923 rs113654222 GRCh37: 4:187003464-187003464
GRCh38: 4:186082310-186082310
229 UNC93B1 NM_030930.4(UNC93B1):c.907-5C>T SNV Benign 537924 rs144979304 GRCh37: 11:67764260-67764260
GRCh38: 11:67996789-67996789
230 TLR3 NM_003265.2(TLR3):c.2556T>G (p.Leu852=) SNV Benign 537925 rs115677523 GRCh37: 4:187005868-187005868
GRCh38: 4:186084714-186084714
231 TLR3 NM_003265.2(TLR3):c.838G>A (p.Asp280Asn) SNV Benign 537926 rs112077022 GRCh37: 4:187003678-187003678
GRCh38: 4:186082524-186082524
232 TLR3 NM_003265.2(TLR3):c.2553C>T (p.Phe851=) SNV Benign 470483 rs73873710 GRCh37: 4:187005865-187005865
GRCh38: 4:186084711-186084711
233 TLR3 NM_003265.2(TLR3):c.919T>G (p.Tyr307Asp) SNV Benign 470486 rs5743317 GRCh37: 4:187003759-187003759
GRCh38: 4:186082605-186082605
234 UNC93B1 NM_030930.4(UNC93B1):c.1206G>C (p.Pro402=) SNV Benign 470489 rs112284414 GRCh37: 11:67763239-67763239
GRCh38: 11:67995768-67995768
235 UNC93B1 NM_030930.4(UNC93B1):c.1768G>T (p.Gly590Trp) SNV Benign 470495 rs2375182 GRCh37: 11:67759043-67759043
GRCh38: 11:67991572-67991572
236 UNC93B1 NM_030930.4(UNC93B1):c.626C>T (p.Pro209Leu) SNV Benign 470499 rs144399212 GRCh37: 11:67766704-67766704
GRCh38: 11:67999234-67999234
237 TLR3 NM_003265.2(TLR3):c.727T>C (p.Leu243=) SNV Benign 470485 rs75290011 GRCh37: 4:187003567-187003567
GRCh38: 4:186082413-186082413
238 UNC93B1 NM_030930.4(UNC93B1):c.1163C>T (p.Ala388Val) SNV Benign 470488 rs11543208 GRCh37: 11:67763282-67763282
GRCh38: 11:67995811-67995811
239 UNC93B1 NM_030930.4(UNC93B1):c.1453G>A (p.Val485Met) SNV Benign 470491 rs199824078 GRCh37: 11:67761176-67761176
GRCh38: 11:67993705-67993705
240 TLR3 NM_003265.2(TLR3):c.1927C>A (p.Arg643Ser) SNV Benign 470480 rs73025939 GRCh37: 4:187004767-187004767
GRCh38: 4:186083613-186083613
241 TLR3 NM_003265.2(TLR3):c.1677G>A (p.Lys559=) SNV Benign 470477 rs35617964 GRCh37: 4:187004517-187004517
GRCh38: 4:186083363-186083363
242 UNC93B1 NM_030930.4(UNC93B1):c.385C>A (p.Leu129Ile) SNV Benign 470497 rs146593182 GRCh37: 11:67770499-67770499
GRCh38: 11:68003029-68003029
243 TLR3 NM_003265.2(TLR3):c.2209T>A (p.Ser737Thr) SNV Benign 470481 rs5743318 GRCh37: 4:187005049-187005049
GRCh38: 4:186083895-186083895
244 TLR3 NM_003265.2(TLR3):c.1704C>T (p.Asn568=) SNV Benign 470478 rs35111588 GRCh37: 4:187004544-187004544
GRCh38: 4:186083390-186083390
245 UNC93B1 NM_030930.4(UNC93B1):c.1155C>T (p.Gly385=) SNV Benign 470487 rs200930438 GRCh37: 11:67763290-67763290
GRCh38: 11:67995819-67995819

Expression for Encephalopathy, Acute, Infection-Induced 1

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