LGI1 (leucine rich glioma inactivated 1) - Rat Genome Database

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Gene: LGI1 (leucine rich glioma inactivated 1) Homo sapiens
Analyze
Symbol: LGI1
Name: leucine rich glioma inactivated 1
RGD ID: 733103
HGNC Page HGNC:6572
Description: Enables signaling receptor binding activity. Involved in axon guidance and positive regulation of cell growth. Located in extracellular space. Implicated in familial temporal lobe epilepsy 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADLTE; ADPAEF; ADPEAF; EPITEMPIN; epitempin-1; EPT; ETL1; IB1099; leucine-rich glioma inactivated 1; leucine-rich glioma-inactivated protein 1; leucine-rich, glioma inactivated 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,757,936 - 93,798,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,757,840 - 93,806,272 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,517,693 - 95,557,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,507,668 - 95,547,906 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,507,667 - 95,547,906NCBI
Celera1089,258,689 - 89,298,048 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,145,309 - 89,184,670 (+)NCBIHuRef
CHM1_11095,800,134 - 95,839,500 (+)NCBICHM1_1
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A rat model for LGI1-related epilepsies. Baulac S, etal., Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Down-Regulation of Astrocytic Kir4.1 Channels during the Audiogenic Epileptogenesis in Leucine-Rich Glioma-Inactivated 1 (Lgi1) Mutant Rats. Kinboshi M, etal., Int J Mol Sci. 2019 Feb 26;20(5). pii: ijms20051013. doi: 10.3390/ijms20051013.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. A common protein interaction domain links two recently identified epilepsy genes. Scheel H, etal., Hum Mol Genet 2002 Jul 15;11(15):1757-62.
Additional References at PubMed
PMID:7647791   PMID:9879993   PMID:11810107   PMID:11978770   PMID:12205652   PMID:12217514   PMID:12477932   PMID:12601709   PMID:12771268   PMID:12821932   PMID:12975309   PMID:15009222  
PMID:15047712   PMID:15079010   PMID:15079011   PMID:15164054   PMID:15349881   PMID:15489334   PMID:15827762   PMID:16385451   PMID:16518856   PMID:16707245   PMID:16787412   PMID:16990550  
PMID:17067999   PMID:17296837   PMID:17875918   PMID:18355961   PMID:18625862   PMID:18711109   PMID:19191227   PMID:19268539   PMID:19387870   PMID:19552651   PMID:19778537   PMID:19780791  
PMID:19796686   PMID:20301709   PMID:20463223   PMID:20580615   PMID:20659151   PMID:20863412   PMID:21444903   PMID:21479274   PMID:21504429   PMID:21873635   PMID:22122031   PMID:22323750  
PMID:22496201   PMID:22744657   PMID:23407760   PMID:23621105   PMID:23651915   PMID:24177143   PMID:24206907   PMID:24227725   PMID:24315022   PMID:24510112   PMID:24721199   PMID:25616465  
PMID:26459092   PMID:26773249   PMID:26871637   PMID:27066583   PMID:27760137   PMID:28248701   PMID:29670100   PMID:29723732   PMID:30188624   PMID:30625332   PMID:31900946   PMID:32232701  
PMID:32799011   PMID:32911250   PMID:33208158   PMID:33961781   PMID:34767694   PMID:35643238   PMID:35914814   PMID:36304459   PMID:38113892   PMID:38473828  


Genomics

Comparative Map Data
LGI1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,757,936 - 93,798,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,757,840 - 93,806,272 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,517,693 - 95,557,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,507,668 - 95,547,906 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,507,667 - 95,547,906NCBI
Celera1089,258,689 - 89,298,048 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,145,309 - 89,184,670 (+)NCBIHuRef
CHM1_11095,800,134 - 95,839,500 (+)NCBICHM1_1
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBIT2T-CHM13v2.0
Lgi1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391938,253,135 - 38,297,387 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1938,252,984 - 38,300,662 (+)EnsemblGRCm39 Ensembl
GRCm381938,264,687 - 38,308,939 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1938,264,536 - 38,312,214 (+)EnsemblGRCm38mm10GRCm38
MGSCv371938,339,272 - 38,383,429 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361938,329,926 - 38,374,083 (+)NCBIMGSCv36mm8
Celera1939,059,488 - 39,103,642 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1932.9NCBI
Lgi1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81245,455,691 - 245,497,036 (+)NCBIGRCr8
mRatBN7.21236,043,269 - 236,084,617 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1236,042,954 - 236,084,616 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,465,730 - 244,506,680 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01251,360,549 - 251,401,450 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01244,198,790 - 244,239,705 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01256,955,944 - 256,996,835 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1256,955,652 - 256,999,253 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01264,436,441 - 264,477,332 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,593,236 - 242,634,141 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,809,453 - 242,810,274 (+)NCBI
Celera1233,136,652 - 233,177,516 (+)NCBICelera
Cytogenetic Map1q53NCBI
Lgi1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955507267,892 - 305,026 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955507268,032 - 304,949 (+)NCBIChiLan1.0ChiLan1.0
LGI1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28105,797,941 - 105,838,409 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110105,803,256 - 105,843,724 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01090,506,131 - 90,546,582 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11094,016,703 - 94,056,820 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1094,016,703 - 94,056,820 (+)Ensemblpanpan1.1panPan2
LGI1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1287,966,485 - 8,005,995 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl287,966,593 - 8,012,313 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha288,142,279 - 8,181,152 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0288,226,366 - 8,265,262 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl288,225,835 - 8,272,347 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1287,945,864 - 7,984,726 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0287,975,424 - 8,014,295 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0288,145,234 - 8,184,124 (+)NCBIUU_Cfam_GSD_1.0
Lgi1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721339,607,174 - 39,643,265 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366011,239,771 - 1,275,850 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366011,242,022 - 1,275,842 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LGI1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14105,219,896 - 105,256,648 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114105,219,901 - 105,251,423 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214114,951,215 - 114,982,754 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LGI1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1986,993,964 - 87,033,725 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl986,994,307 - 87,035,807 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604847,769,144 - 47,809,266 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lgi1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247375,024,414 - 5,060,329 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247375,024,691 - 5,060,248 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LGI1
414 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005097.4(LGI1):c.838+10G>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231766] Chr10:93793360 [GRCh38]
Chr10:95553117 [GRCh37]
Chr10:10q23.33		 likely benign
LGI1, 81-KB DEL deletion Epilepsy, familial temporal lobe, 1 [RCV000033233] Chr10:10q24 pathogenic
NM_005097.4(LGI1):c.611del (p.Pro204fs) deletion Epilepsy, familial temporal lobe, 1 [RCV000005764] Chr10:93792845 [GRCh38]
Chr10:95552602 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.360-3C>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005765] Chr10:93777543 [GRCh38]
Chr10:95537300 [GRCh37]
Chr10:10q23.33		 pathogenic
LGI1, 1320C-T single nucleotide variant Familial temporal lobe epilepsy 1 [RCV000005767] Chr10:10q24 pathogenic
NM_005097.4(LGI1):c.431+1G>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005769] Chr10:93777618 [GRCh38]
Chr10:95537375 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) deletion Autosomal dominant epilepsy with auditory features [RCV002231763]|Inborn genetic diseases [RCV002395379] Chr10:93797566..93797569 [GRCh38]
Chr10:95557323..95557326 [GRCh37]
Chr10:10q23.33		 pathogenic|uncertain significance
NM_005097.4(LGI1):c.1370T>C (p.Val457Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232249] Chr10:93797499 [GRCh38]
Chr10:95557256 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.618C>T (p.Tyr206=) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000549272] Chr10:93792857 [GRCh38]
Chr10:95552614 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005763] Chr10:93797277 [GRCh38]
Chr10:95557034 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003595853]|Epilepsy, familial temporal lobe, 1 [RCV000005766] Chr10:93758280 [GRCh38]
Chr10:95518037 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005768] Chr10:93797082 [GRCh38]
Chr10:95556839 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005770] Chr10:93793207 [GRCh38]
Chr10:95552964 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002227996]|Epilepsy, familial temporal lobe, 1 [RCV000005771]|LGI1-related condition [RCV003407283]|not provided [RCV000188042] Chr10:93777592 [GRCh38]
Chr10:95537349 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000005772] Chr10:93777551 [GRCh38]
Chr10:95537308 [GRCh37]
Chr10:10q23.33		 pathogenic
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
NM_005097.3(LGI1):c.1483G>A (p.Asp495Asn) single nucleotide variant Malignant melanoma [RCV000069085] Chr10:93797612 [GRCh38]
Chr10:95557369 [GRCh37]
Chr10:95547359 [NCBI36]
Chr10:10q23.33		 not provided
NM_005097.3(LGI1):c.255G>A (p.Gly85=) single nucleotide variant Malignant melanoma [RCV000062097] Chr10:93758799 [GRCh38]
Chr10:95518556 [GRCh37]
Chr10:95508546 [NCBI36]
Chr10:10q23.33		 not provided
NM_005097.4(LGI1):c.407G>A (p.Arg136Gln) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000660400]|not provided [RCV003140056] Chr10:93777593 [GRCh38]
Chr10:95537350 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.519T>C (p.Asn173=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764824]|not provided [RCV000117488] Chr10:93792758 [GRCh38]
Chr10:95552515 [GRCh37]
Chr10:10q23.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1		 pathogenic
NM_005097.4(LGI1):c.345A>G (p.Pro115=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228296]|Epilepsy, familial temporal lobe, 1 [RCV000302993]|Inborn genetic diseases [RCV002312902]|not provided [RCV002510786]|not specified [RCV000126618] Chr10:93777436 [GRCh38]
Chr10:95537193 [GRCh37]
Chr10:10q23.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.717A>C (p.Ile239=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228297]|Epilepsy, familial temporal lobe, 1 [RCV001088608]|Inborn genetic diseases [RCV002371965]|not provided [RCV000727013]|not specified [RCV000126619] Chr10:93793229 [GRCh38]
Chr10:95552986 [GRCh37]
Chr10:10q23.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.744G>A (p.Glu248=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228298]|not provided [RCV001701680]|not specified [RCV000126620] Chr10:93793256 [GRCh38]
Chr10:95553013 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228468]|Epilepsy, familial temporal lobe, 1 [RCV000363051]|Inborn genetic diseases [RCV002362762]|not specified [RCV000126621] Chr10:93797284 [GRCh38]
Chr10:95557041 [GRCh37]
Chr10:10q23.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.215+2T>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001291524] Chr10:93758361 [GRCh38]
Chr10:95518118 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
NM_005097.4(LGI1):c.931C>T (p.Arg311Ter) single nucleotide variant not provided [RCV000254786] Chr10:93797060 [GRCh38]
Chr10:95556817 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003595879]|Epilepsy, familial temporal lobe, 1 [RCV000192478] Chr10:93797547 [GRCh38]
Chr10:95557304 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic|not provided
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000193106] Chr10:93758268 [GRCh38]
Chr10:95518025 [GRCh37]
Chr10:10q23.33		 pathogenic|not provided
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003595878]|Epilepsy, familial temporal lobe, 1 [RCV000193378] Chr10:93797549 [GRCh38]
Chr10:95557306 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.758del (p.Ala253fs) deletion Epilepsy, familial temporal lobe, 1 [RCV000195148] Chr10:93793270 [GRCh38]
Chr10:95553027 [GRCh37]
Chr10:10q23.33		 pathogenic|not provided
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000195223] Chr10:93758268 [GRCh38]
Chr10:95518025 [GRCh37]
Chr10:10q23.33		 pathogenic|not provided
NC_000010.11:g.(93704377_?)_(?_93785620)del deletion Epilepsy, familial temporal lobe, 1 [RCV000194261] Chr10:93704377..93785620 [GRCh38]
Chr10:95464133..95545376 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.504-20A>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002054210]|not specified [RCV000188029] Chr10:93792723 [GRCh38]
Chr10:95552480 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.269C>T (p.Thr90Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229014]|not provided [RCV000188032] Chr10:93758813 [GRCh38]
Chr10:95518570 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.272C>T (p.Pro91Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228823]|not provided [RCV000188033] Chr10:93758816 [GRCh38]
Chr10:95518573 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.294C>A (p.Phe98Leu) single nucleotide variant not provided [RCV000188034] Chr10:93777385 [GRCh38]
Chr10:95537142 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1108C>T (p.His370Tyr) single nucleotide variant not provided [RCV000188037] Chr10:93797237 [GRCh38]
Chr10:95556994 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1274A>C (p.Asp425Ala) single nucleotide variant not provided [RCV000188038] Chr10:93797403 [GRCh38]
Chr10:95557160 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.358T>G (p.Leu120Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597134] Chr10:93777449 [GRCh38]
Chr10:95537206 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.998A>G (p.Asn333Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002031396] Chr10:93797127 [GRCh38]
Chr10:95556884 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.600C>T (p.Cys200=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229013]|Inborn genetic diseases [RCV002354529]|not provided [RCV000729007]|not specified [RCV000188030] Chr10:93792839 [GRCh38]
Chr10:95552596 [GRCh37]
Chr10:10q23.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228822]|Epilepsy, familial temporal lobe, 1 [RCV000689512]|Inborn genetic diseases [RCV002408843]|not provided [RCV000188031] Chr10:93758335 [GRCh38]
Chr10:95518092 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228824]|Inborn genetic diseases [RCV002415810]|not provided [RCV003133165] Chr10:93793324 [GRCh38]
Chr10:95553081 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1106C>G (p.Ser369Cys) single nucleotide variant not provided [RCV000188036] Chr10:93797235 [GRCh38]
Chr10:95556992 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1300G>A (p.Ala434Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003765194]|not provided [RCV000188039] Chr10:93797429 [GRCh38]
Chr10:95557186 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1669G>A (p.Ala557Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002228825]|not provided [RCV000188040] Chr10:93797798 [GRCh38]
Chr10:95557555 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1220G>A (p.Arg407His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231761]|Inborn genetic diseases [RCV002367845]|not provided [RCV001567452] Chr10:93797349 [GRCh38]
Chr10:95557106 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000207482] Chr10:93797142 [GRCh38]
Chr10:95556899 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.657= (p.Phe219=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229663]|not provided [RCV000232651] Chr10:93792896 [GRCh38]
Chr10:95552653 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_005097.4(LGI1):c.1578A>C (p.Thr526=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002063220]|Inborn genetic diseases [RCV002404636]|not provided [RCV001697563] Chr10:93797707 [GRCh38]
Chr10:95557464 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.288G>A (p.Leu96=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231634]|not specified [RCV000517171] Chr10:93777379 [GRCh38]
Chr10:95537136 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.*338G>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000374800] Chr10:93798141 [GRCh38]
Chr10:95557898 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*215T>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000273959] Chr10:93798018 [GRCh38]
Chr10:95557775 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.3(LGI1):c.-227T>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000401284] Chr10:93757918 [GRCh38]
Chr10:95517675 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229858]|Epilepsy, familial temporal lobe, 1 [RCV000332625]|Inborn genetic diseases [RCV002311412] Chr10:93797521 [GRCh38]
Chr10:95557278 [GRCh37]
Chr10:10q23.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229856]|Epilepsy, familial temporal lobe, 1 [RCV000357738] Chr10:93793330 [GRCh38]
Chr10:95553087 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002229857]|Epilepsy, familial temporal lobe, 1 [RCV000277627]|not provided [RCV001312164] Chr10:93797465 [GRCh38]
Chr10:95557222 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.-168G>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000278092] Chr10:93757977 [GRCh38]
Chr10:95517734 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.3(LGI1):c.-280G>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000336708] Chr10:93757865 [GRCh38]
Chr10:95517622 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.135G>C (p.Val45=) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000390282] Chr10:93758279 [GRCh38]
Chr10:95518036 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*323A>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000319699] Chr10:93798126 [GRCh38]
Chr10:95557883 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.3(LGI1):c.-304C>T single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000281710] Chr10:93757841 [GRCh38]
Chr10:95517598 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.34G>T (p.Ala12Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003761886]|not provided [RCV000390029] Chr10:93758178 [GRCh38]
Chr10:95517935 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.297A>G (p.Thr99=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003595909]|not provided [RCV000398457] Chr10:93777388 [GRCh38]
Chr10:95537145 [GRCh37]
Chr10:10q23.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003761644]|Inborn genetic diseases [RCV003267225] Chr10:93797301 [GRCh38]
Chr10:95557058 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.688del (p.Gln230fs) deletion not provided [RCV000487910] Chr10:93793200 [GRCh38]
Chr10:95552957 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.432-3dup duplication Autosomal dominant epilepsy with auditory features [RCV002242623] Chr10:93790094..93790095 [GRCh38]
Chr10:95549851..95549852 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1647A>T (p.Lys549Asn) single nucleotide variant not provided [RCV000488248] Chr10:93797776 [GRCh38]
Chr10:95557533 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*59T>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000368577] Chr10:93797862 [GRCh38]
Chr10:95557619 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.838+11C>T single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000408146] Chr10:93793361 [GRCh38]
Chr10:95553118 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002056156]|Epilepsy, familial temporal lobe, 1 [RCV000308337] Chr10:93797254 [GRCh38]
Chr10:95557011 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.-33C>T single nucleotide variant not specified [RCV000604959] Chr10:93758112 [GRCh38]
Chr10:95517869 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.-66G>C single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV000342651] Chr10:93758079 [GRCh38]
Chr10:95517836 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1		 likely pathogenic
NM_005097.4(LGI1):c.388del (p.Ile130fs) deletion not provided [RCV000521320] Chr10:93777573 [GRCh38]
Chr10:95537330 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.343C>T (p.Pro115Ser) single nucleotide variant not provided [RCV000521916] Chr10:93777434 [GRCh38]
Chr10:95537191 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.634A>G (p.Asn212Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233482] Chr10:93792873 [GRCh38]
Chr10:95552630 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1026C>G (p.Asn342Lys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233034] Chr10:93797155 [GRCh38]
Chr10:95556912 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.46C>G (p.Leu16Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231765]|Inborn genetic diseases [RCV000623744] Chr10:93758190 [GRCh38]
Chr10:95517947 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1300G>T (p.Ala434Ser) single nucleotide variant not provided [RCV000415890] Chr10:93797429 [GRCh38]
Chr10:95557186 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1095C>T (p.Asn365=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233739]|Inborn genetic diseases [RCV002458347]|not provided [RCV000732643] Chr10:93797224 [GRCh38]
Chr10:95556981 [GRCh37]
Chr10:10q23.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.838+3A>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230752]|not provided [RCV001705543] Chr10:93793353 [GRCh38]
Chr10:95553110 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
NM_005097.4(LGI1):c.1413G>A (p.Met471Ile) single nucleotide variant not provided [RCV000417550] Chr10:93797542 [GRCh38]
Chr10:95557299 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.756C>T (p.Ile252=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230038]|not provided [RCV001720180] Chr10:93793268 [GRCh38]
Chr10:95553025 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
NM_005097.4(LGI1):c.1164C>T (p.Val388=) single nucleotide variant not specified [RCV000443037] Chr10:93797293 [GRCh38]
Chr10:95557050 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.498A>C (p.Thr166=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002059894]|not specified [RCV000422088] Chr10:93790165 [GRCh38]
Chr10:95549922 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.132C>T (p.Ala44=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230070]|Inborn genetic diseases [RCV002379363]|not specified [RCV000443380] Chr10:93758276 [GRCh38]
Chr10:95518033 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231762] Chr10:93797385 [GRCh38]
Chr10:95557142 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1482T>C (p.Ser494=) single nucleotide variant not specified [RCV000436409] Chr10:93797611 [GRCh38]
Chr10:95557368 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230816]|Epilepsy, familial temporal lobe, 1 [RCV000458976]|Inborn genetic diseases [RCV002323715] Chr10:93777401 [GRCh38]
Chr10:95537158 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230371] Chr10:93793200 [GRCh38]
Chr10:95552957 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230817] Chr10:93797257 [GRCh38]
Chr10:95557014 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.738T>A (p.Asn246Lys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230818] Chr10:93793250 [GRCh38]
Chr10:95553007 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1A>G (p.Met1Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230849]|Epilepsy, familial temporal lobe, 1 [RCV001088363]|LGI1-related condition [RCV003942543]|not provided [RCV000483713]|not specified [RCV001289087] Chr10:93758145 [GRCh38]
Chr10:95517902 [GRCh37]
Chr10:10q23.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005097.4(LGI1):c.303C>T (p.Asn101=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230850]|LGI1-related condition [RCV003915302] Chr10:93777394 [GRCh38]
Chr10:95537151 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1668C>T (p.Ser556=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230851]|Inborn genetic diseases [RCV002402340] Chr10:93797797 [GRCh38]
Chr10:95557554 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003595993]|not provided [RCV000485877] Chr10:93797550 [GRCh38]
Chr10:95557307 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.837A>G (p.Thr279=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002230819]|Inborn genetic diseases [RCV002436427] Chr10:93793349 [GRCh38]
Chr10:95553106 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.359+14_359+15delinsA indel not specified [RCV000482437] Chr10:93777464..93777465 [GRCh38]
Chr10:95537221..95537222 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1406A>G (p.Gln469Arg) single nucleotide variant not provided [RCV000483107] Chr10:93797535 [GRCh38]
Chr10:95557292 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1397A>G (p.Gln466Arg) single nucleotide variant not provided [RCV000498419] Chr10:93797526 [GRCh38]
Chr10:95557283 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 copy number loss See cases [RCV000511278] Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33		 pathogenic
NM_005097.4(LGI1):c.398A>G (p.His133Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002231764] Chr10:93777584 [GRCh38]
Chr10:95537341 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.611C>G (p.Pro204Arg) single nucleotide variant not provided [RCV003318134] Chr10:93792850 [GRCh38]
Chr10:95552607 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.470A>T (p.Asp157Val) single nucleotide variant Seizure [RCV000626875] Chr10:93790137 [GRCh38]
Chr10:95549894 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) duplication Autosomal dominant epilepsy with auditory features [RCV002233483] Chr10:93797285..93797286 [GRCh38]
Chr10:95557042..95557043 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.882G>A (p.Gln294=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233484] Chr10:93797011 [GRCh38]
Chr10:95556768 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.216-55T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002526118]|not provided [RCV002060318]|not specified [RCV000596862] Chr10:93758705 [GRCh38]
Chr10:95518462 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232250] Chr10:93758287 [GRCh38]
Chr10:95518044 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.673+15A>G single nucleotide variant not specified [RCV000605175] Chr10:93792927 [GRCh38]
Chr10:95552684 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1170A>G (p.Thr390=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232571]|not specified [RCV000605179] Chr10:93797299 [GRCh38]
Chr10:95557056 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.360-7A>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232998]|not provided [RCV000994480]|not specified [RCV000603726] Chr10:93777539 [GRCh38]
Chr10:95537296 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
NM_005097.4(LGI1):c.299C>T (p.Ser100Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233033]|Inborn genetic diseases [RCV002544656] Chr10:93777390 [GRCh38]
Chr10:95537147 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.674-5dup duplication Autosomal dominant epilepsy with auditory features [RCV002232787] Chr10:93793176..93793177 [GRCh38]
Chr10:95552933..95552934 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_005097.4(LGI1):c.432-5del deletion Inborn genetic diseases [RCV002316117] Chr10:93790080 [GRCh38]
Chr10:95549837 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_005097.4(LGI1):c.625C>T (p.Arg209Cys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002234113]|not provided [RCV003324790] Chr10:93792864 [GRCh38]
Chr10:95552621 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.836C>G (p.Thr279Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232846] Chr10:93793348 [GRCh38]
Chr10:95553105 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1318G>A (p.Val440Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232891]|Inborn genetic diseases [RCV002544859] Chr10:93797447 [GRCh38]
Chr10:95557204 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1331T>A (p.Val444Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233561] Chr10:93797460 [GRCh38]
Chr10:95557217 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.626G>A (p.Arg209His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233283]|Inborn genetic diseases [RCV002360765] Chr10:93792865 [GRCh38]
Chr10:95552622 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233713] Chr10:93777572 [GRCh38]
Chr10:95537329 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.205G>A (p.Val69Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233298]|Epilepsy, familial temporal lobe, 1 [RCV000695764]|Inborn genetic diseases [RCV002532325] Chr10:93758349 [GRCh38]
Chr10:95518106 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1652T>C (p.Val551Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233618] Chr10:93797781 [GRCh38]
Chr10:95557538 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002232944] Chr10:93797339 [GRCh38]
Chr10:95557096 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.504-1G>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233238]|Inborn genetic diseases [RCV002334299] Chr10:93792742 [GRCh38]
Chr10:95552499 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.1471A>G (p.Ile491Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233149]|Inborn genetic diseases [RCV002388202]|not provided [RCV001653978] Chr10:93797600 [GRCh38]
Chr10:95557357 [GRCh37]
Chr10:10q23.33		 benign|likely benign|uncertain significance
NM_005097.4(LGI1):c.432-5dup duplication Autosomal dominant epilepsy with auditory features [RCV002060898]|Inborn genetic diseases [RCV002312280]|not provided [RCV001698771] Chr10:93790079..93790080 [GRCh38]
Chr10:95549836..95549837 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_005097.4(LGI1):c.61T>C (p.Tyr21His) single nucleotide variant Inborn genetic diseases [RCV002318001] Chr10:93758205 [GRCh38]
Chr10:95517962 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.270G>A (p.Thr90=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233729]|Inborn genetic diseases [RCV002313503] Chr10:93758814 [GRCh38]
Chr10:95518571 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1075A>G (p.Ile359Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233452]|Inborn genetic diseases [RCV002318127] Chr10:93797204 [GRCh38]
Chr10:95556961 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1122C>T (p.His374=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002233731]|Inborn genetic diseases [RCV002318621] Chr10:93797251 [GRCh38]
Chr10:95557008 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.925T>A (p.Tyr309Asn) single nucleotide variant Inborn genetic diseases [RCV002318862] Chr10:93797054 [GRCh38]
Chr10:95556811 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33(chr10:95542677-95546273)x0 copy number loss not provided [RCV000737267] Chr10:95542677..95546273 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:95543430-95548443)x0 copy number loss not provided [RCV000737268] Chr10:95543430..95548443 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:95545536-95545993)x0 copy number loss not provided [RCV000737269] Chr10:95545536..95545993 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:95545536-95546273)x0 copy number loss not provided [RCV000737270] Chr10:95545536..95546273 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:95545536-95548753)x0 copy number loss not provided [RCV000737271] Chr10:95545536..95548753 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_005097.4(LGI1):c.90G>C (p.Leu30Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240333] Chr10:93758234 [GRCh38]
Chr10:95517991 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1391C>T (p.Ser464Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240340]|Inborn genetic diseases [RCV002393277] Chr10:93797520 [GRCh38]
Chr10:95557277 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.329del (p.Ala110fs) deletion not provided [RCV001567694] Chr10:93777420 [GRCh38]
Chr10:95537177 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.648G>A (p.Ser216=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235941] Chr10:93792887 [GRCh38]
Chr10:95552644 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.219C>T (p.Ser73=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235748] Chr10:93758763 [GRCh38]
Chr10:95518520 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.817C>T (p.Arg273Trp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240318] Chr10:93793329 [GRCh38]
Chr10:95553086 [GRCh37]
Chr10:10q23.33		 uncertain significance
NC_000010.11:g.(?_93161309)_(93797823_?)del deletion Autosomal dominant epilepsy with auditory features [RCV001862461]|Epilepsy, familial temporal lobe, 1 [RCV001033707] Chr10:94921066..95557580 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.215+7C>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002234251] Chr10:93758366 [GRCh38]
Chr10:95518123 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.647C>T (p.Ser216Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235007] Chr10:93792886 [GRCh38]
Chr10:95552643 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1314C>T (p.Phe438=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002064748] Chr10:93797443 [GRCh38]
Chr10:95557200 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.300G>A (p.Ser100=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235723] Chr10:93777391 [GRCh38]
Chr10:95537148 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.75C>T (p.Leu25=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235947] Chr10:93758219 [GRCh38]
Chr10:95517976 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1040T>C (p.Val347Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002234352] Chr10:93797169 [GRCh38]
Chr10:95556926 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) deletion Autosomal dominant epilepsy with auditory features [RCV002234247]|Epilepsy, familial temporal lobe, 1 [RCV002487662] Chr10:93797709..93797710 [GRCh38]
Chr10:95557466..95557467 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_005097.4(LGI1):c.1597C>T (p.Arg533Cys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235042] Chr10:93797726 [GRCh38]
Chr10:95557483 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.504-100C>T single nucleotide variant not provided [RCV000835302] Chr10:93792643 [GRCh38]
Chr10:95552400 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.674-80G>T single nucleotide variant not provided [RCV000832443] Chr10:93793106 [GRCh38]
Chr10:95552863 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.464C>T (p.Pro155Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235288] Chr10:93790131 [GRCh38]
Chr10:95549888 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1290G>A (p.Glu430=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002234189]|Inborn genetic diseases [RCV002386377] Chr10:93797419 [GRCh38]
Chr10:95557176 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.431+213C>T single nucleotide variant not provided [RCV000843178] Chr10:93777830 [GRCh38]
Chr10:95537587 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.432-185A>G single nucleotide variant not provided [RCV000843179] Chr10:93789914 [GRCh38]
Chr10:95549671 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.288-242A>G single nucleotide variant not provided [RCV000843209] Chr10:93777137 [GRCh38]
Chr10:95536894 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) deletion Autosomal dominant epilepsy with auditory features [RCV002234945] Chr10:93797594 [GRCh38]
Chr10:95557351 [GRCh37]
Chr10:10q23.33		 pathogenic|uncertain significance
NM_005097.4(LGI1):c.494T>A (p.Leu165Ter) single nucleotide variant not provided [RCV000994481] Chr10:93790161 [GRCh38]
Chr10:95549918 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_005097.4(LGI1):c.1283A>G (p.Asn428Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002234781] Chr10:93797412 [GRCh38]
Chr10:95557169 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.287+287A>G single nucleotide variant not provided [RCV000828822] Chr10:93759118 [GRCh38]
Chr10:95518875 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.432-261C>A single nucleotide variant not provided [RCV000844240] Chr10:93789838 [GRCh38]
Chr10:95549595 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1120C>T (p.His374Tyr) single nucleotide variant not provided [RCV000994482] Chr10:93797249 [GRCh38]
Chr10:95557006 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.191C>G (p.Thr64Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241801] Chr10:93758335 [GRCh38]
Chr10:95518092 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.432G>T (p.Leu144Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241478] Chr10:93790099 [GRCh38]
Chr10:95549856 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.757G>A (p.Ala253Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241322]|not provided [RCV001545390] Chr10:93793269 [GRCh38]
Chr10:95553026 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1112A>G (p.Gln371Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241143] Chr10:93797241 [GRCh38]
Chr10:95556998 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.308T>C (p.Phe103Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241331] Chr10:93777399 [GRCh38]
Chr10:95537156 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.275C>T (p.Ser92Leu) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001198897] Chr10:93758819 [GRCh38]
Chr10:95518576 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.69A>G (p.Leu23=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002072202]|not provided [RCV001569954] Chr10:93758213 [GRCh38]
Chr10:95517970 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1649_1650del (p.His550fs) deletion not provided [RCV001560940] Chr10:93797778..93797779 [GRCh38]
Chr10:95557535..95557536 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.432-123dup duplication not provided [RCV001555822] Chr10:93789967..93789968 [GRCh38]
Chr10:95549724..95549725 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.431+249G>C single nucleotide variant not provided [RCV001556770] Chr10:93777866 [GRCh38]
Chr10:95537623 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.503+99T>G single nucleotide variant not provided [RCV001618783] Chr10:93790269 [GRCh38]
Chr10:95550026 [GRCh37]
Chr10:10q23.33		 benign
NC_000010.11:g.93757739C>T single nucleotide variant not provided [RCV001583154] Chr10:93757739 [GRCh38]
Chr10:95517496 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.276G>A (p.Ser92=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002236036] Chr10:93758820 [GRCh38]
Chr10:95518577 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.216-3C>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241623] Chr10:93758757 [GRCh38]
Chr10:95518514 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*180G>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001106502]|not provided [RCV003425928] Chr10:93797983 [GRCh38]
Chr10:95557740 [GRCh37]
Chr10:10q23.33		 benign|uncertain significance
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240635]|Epilepsy, familial temporal lobe, 1 [RCV001070668] Chr10:93797258 [GRCh38]
Chr10:95557015 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.658G>A (p.Asp220Asn) single nucleotide variant not provided [RCV003130183] Chr10:93792897 [GRCh38]
Chr10:95552654 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1124C>T (p.Ala375Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241408] Chr10:93797253 [GRCh38]
Chr10:95557010 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.624G>T (p.Lys208Asn) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240371] Chr10:93792863 [GRCh38]
Chr10:95552620 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1434G>T (p.Val478=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002235650] Chr10:93797563 [GRCh38]
Chr10:95557320 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1062T>G (p.Ala354=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002072140]|LGI1-related condition [RCV003941010]|not provided [RCV001563067] Chr10:93797191 [GRCh38]
Chr10:95556948 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_005097.4(LGI1):c.503+44G>C single nucleotide variant not provided [RCV001713461] Chr10:93790214 [GRCh38]
Chr10:95549971 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.674-18T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002073245]|not provided [RCV001688764] Chr10:93793168 [GRCh38]
Chr10:95552925 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.432-7_432-5dup duplication not provided [RCV001658643] Chr10:93790079..93790080 [GRCh38]
Chr10:95549836..95549837 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1285A>G (p.Met429Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002554870]|not provided [RCV001093414] Chr10:93797414 [GRCh38]
Chr10:95557171 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*282A>G single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001106503] Chr10:93798085 [GRCh38]
Chr10:95557842 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.568C>T (p.His190Tyr) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001103442] Chr10:93792807 [GRCh38]
Chr10:95552564 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.432-6_432-5dup duplication Autosomal dominant epilepsy with auditory features [RCV002538649]|Inborn genetic diseases [RCV002329713]|not provided [RCV001700951]|not specified [RCV001726676] Chr10:93790079..93790080 [GRCh38]
Chr10:95549836..95549837 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1650T>C (p.His550=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002072997]|not provided [RCV001651738] Chr10:93797779 [GRCh38]
Chr10:95557536 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.853G>C (p.Val285Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241495] Chr10:93796982 [GRCh38]
Chr10:95556739 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1057A>C (p.Lys353Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240191] Chr10:93797186 [GRCh38]
Chr10:95556943 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.432G>A (p.Leu144=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241268] Chr10:93790099 [GRCh38]
Chr10:95549856 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1097G>C (p.Gly366Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240313]|Inborn genetic diseases [RCV002445254]|not provided [RCV002272396] Chr10:93797226 [GRCh38]
Chr10:95556983 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002239345]|Epilepsy, familial temporal lobe, 1 [RCV001043317]|Inborn genetic diseases [RCV002436562] Chr10:93797235 [GRCh38]
Chr10:95556992 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.113C>G (p.Ala38Gly) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002239371]|not provided [RCV001593216] Chr10:93758257 [GRCh38]
Chr10:95518014 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.430T>C (p.Leu144=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240997] Chr10:93777616 [GRCh38]
Chr10:95537373 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.460C>A (p.Leu154Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240849] Chr10:93790127 [GRCh38]
Chr10:95549884 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241094]|not specified [RCV003226444] Chr10:93797445 [GRCh38]
Chr10:95557202 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.715A>G (p.Ile239Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241117] Chr10:93793227 [GRCh38]
Chr10:95552984 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.55A>G (p.Ile19Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240848] Chr10:93758199 [GRCh38]
Chr10:95517956 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1060G>T (p.Ala354Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241218]|not provided [RCV001760193] Chr10:93797189 [GRCh38]
Chr10:95556946 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1103A>G (p.Tyr368Cys) single nucleotide variant Intellectual disability [RCV001252304] Chr10:93797232 [GRCh38]
Chr10:95556989 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.608C>A (p.Pro203His) single nucleotide variant Intellectual disability [RCV001257684] Chr10:93792847 [GRCh38]
Chr10:95552604 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001262511] Chr10:93758148 [GRCh38]
Chr10:95517905 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.1330G>A (p.Val444Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242071] Chr10:93797459 [GRCh38]
Chr10:95557216 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1279C>A (p.Pro427Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242558] Chr10:93797408 [GRCh38]
Chr10:95557165 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.431+5G>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242621] Chr10:93777622 [GRCh38]
Chr10:95537379 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.768T>C (p.Phe256=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002243015] Chr10:93793280 [GRCh38]
Chr10:95553037 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1267C>A (p.Gln423Lys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242309] Chr10:93797396 [GRCh38]
Chr10:95557153 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.726T>G (p.Phe242Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242275] Chr10:93793238 [GRCh38]
Chr10:95552995 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1003A>G (p.Ile335Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242657] Chr10:93797132 [GRCh38]
Chr10:95556889 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1549T>A (p.Leu517Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242109] Chr10:93797678 [GRCh38]
Chr10:95557435 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.553G>A (p.Val185Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242683] Chr10:93792792 [GRCh38]
Chr10:95552549 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.992A>C (p.Lys331Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241719] Chr10:93797121 [GRCh38]
Chr10:95556878 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.401C>T (p.Thr134Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242351] Chr10:93777587 [GRCh38]
Chr10:95537344 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.512G>C (p.Arg171Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242715] Chr10:93792751 [GRCh38]
Chr10:95552508 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.829A>G (p.Asn277Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001963902] Chr10:93793341 [GRCh38]
Chr10:95553098 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.254G>A (p.Gly85Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242429] Chr10:93758798 [GRCh38]
Chr10:95518555 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.862C>T (p.Pro288Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242684] Chr10:93796991 [GRCh38]
Chr10:95556748 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.344C>T (p.Pro115Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242057]|LGI1-related condition [RCV003898297]|not provided [RCV001575265] Chr10:93777435 [GRCh38]
Chr10:95537192 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1598G>A (p.Arg533His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242113]|not provided [RCV001587344] Chr10:93797727 [GRCh38]
Chr10:95557484 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1487A>T (p.Tyr496Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242448] Chr10:93797616 [GRCh38]
Chr10:95557373 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.287+1G>A single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV001330013] Chr10:93758832 [GRCh38]
Chr10:95518589 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.122A>G (p.Lys41Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242183] Chr10:93758266 [GRCh38]
Chr10:95518023 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.657T>C (p.Phe219=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241192]|Epilepsy, familial temporal lobe, 1 [RCV001509885] Chr10:93792896 [GRCh38]
Chr10:95552653 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1599T>C (p.Arg533=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240866] Chr10:93797728 [GRCh38]
Chr10:95557485 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.393A>G (p.Ser131=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241182] Chr10:93777579 [GRCh38]
Chr10:95537336 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.609C>T (p.Pro203=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241008] Chr10:93792848 [GRCh38]
Chr10:95552605 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242849] Chr10:93793307 [GRCh38]
Chr10:95553064 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.801T>C (p.His267=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241005] Chr10:93793313 [GRCh38]
Chr10:95553070 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1407G>A (p.Gln469=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240870] Chr10:93797536 [GRCh38]
Chr10:95557293 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1503G>A (p.Val501=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240871] Chr10:93797632 [GRCh38]
Chr10:95557389 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.309T>C (p.Phe103=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240665] Chr10:93777400 [GRCh38]
Chr10:95537157 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.483C>A (p.Gly161=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002243159] Chr10:93790150 [GRCh38]
Chr10:95549907 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.277C>T (p.Leu93=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002237176] Chr10:93758821 [GRCh38]
Chr10:95518578 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1342T>C (p.Leu448=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002243048] Chr10:93797471 [GRCh38]
Chr10:95557228 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1566A>C (p.Pro522=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002236349] Chr10:93797695 [GRCh38]
Chr10:95557452 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1329C>T (p.Asp443=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242967] Chr10:93797458 [GRCh38]
Chr10:95557215 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.108del (p.Lys36fs) deletion Autosomal dominant epilepsy with auditory features [RCV002242924]|not provided [RCV002280182] Chr10:93758250 [GRCh38]
Chr10:95518007 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_005097.4(LGI1):c.990A>G (p.Arg330=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002243156] Chr10:93797119 [GRCh38]
Chr10:95556876 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) deletion Autosomal dominant epilepsy with auditory features [RCV002242806] Chr10:93790112..93790115 [GRCh38]
Chr10:95549869..95549872 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1560G>A (p.Gln520=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002237174] Chr10:93797689 [GRCh38]
Chr10:95557446 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.588A>G (p.Glu196=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241047] Chr10:93792827 [GRCh38]
Chr10:95552584 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-5_432-4insTTC insertion Autosomal dominant epilepsy with auditory features [RCV002237188] Chr10:93790094..93790095 [GRCh38]
Chr10:95549851..95549852 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1187C>T (p.Thr396Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001873829]|not provided [RCV001652959] Chr10:93797316 [GRCh38]
Chr10:95557073 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.547T>C (p.Trp183Arg) single nucleotide variant not provided [RCV001653094] Chr10:93792786 [GRCh38]
Chr10:95552543 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.504-25A>G single nucleotide variant not provided [RCV001725674] Chr10:93792718 [GRCh38]
Chr10:95552475 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.503+43A>T single nucleotide variant not provided [RCV001715543] Chr10:93790213 [GRCh38]
Chr10:95549970 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.1188G>T (p.Thr396=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240433] Chr10:93797317 [GRCh38]
Chr10:95557074 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1011A>T (p.Thr337=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240273] Chr10:93797140 [GRCh38]
Chr10:95556897 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.924C>T (p.Ile308=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002240893] Chr10:93797053 [GRCh38]
Chr10:95556810 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.504-9_505del deletion Autosomal dominant epilepsy with auditory features [RCV002242881] Chr10:93792734..93792744 [GRCh38]
Chr10:95552491..95552501 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002242923] Chr10:93797247 [GRCh38]
Chr10:95557004 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.198T>A (p.Pro66=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002241021] Chr10:93758342 [GRCh38]
Chr10:95518099 [GRCh37]
Chr10:10q23.33		 likely benign
NC_000010.10:g.(?_95517882)_(95537394_?)del deletion Autosomal dominant epilepsy with auditory features [RCV002242900] Chr10:95517882..95537394 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.432-6_432-5insAT insertion Autosomal dominant epilepsy with auditory features [RCV002240456] Chr10:93790092..93790093 [GRCh38]
Chr10:95549849..95549850 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.504-9G>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002243084] Chr10:93792734 [GRCh38]
Chr10:95552491 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1245A>G (p.Lys415=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003105166] Chr10:93797374 [GRCh38]
Chr10:95557131 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.601G>A (p.Glu201Lys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001861059]|not provided [RCV001764760] Chr10:93792840 [GRCh38]
Chr10:95552597 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.79T>C (p.Ser27Pro) single nucleotide variant not provided [RCV001763902] Chr10:93758223 [GRCh38]
Chr10:95517980 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.86T>C (p.Leu29Pro) single nucleotide variant not provided [RCV001758086] Chr10:93758230 [GRCh38]
Chr10:95517987 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.577G>A (p.Ala193Thr) single nucleotide variant not provided [RCV001761020] Chr10:93792816 [GRCh38]
Chr10:95552573 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.47T>G (p.Leu16Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001986948] Chr10:93758191 [GRCh38]
Chr10:95517948 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001929947] Chr10:93797381 [GRCh38]
Chr10:95557138 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.611dup (p.Glu205fs) duplication not provided [RCV001840863] Chr10:93792844..93792845 [GRCh38]
Chr10:95552601..95552602 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.1219C>G (p.Arg407Gly) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001928259]|Inborn genetic diseases [RCV002556367] Chr10:93797348 [GRCh38]
Chr10:95557105 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1254A>T (p.Gln418His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002044768] Chr10:93797383 [GRCh38]
Chr10:95557140 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.248C>T (p.Ser83Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001863657] Chr10:93758792 [GRCh38]
Chr10:95518549 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.673+5T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002041708]|Inborn genetic diseases [RCV002361092] Chr10:93792917 [GRCh38]
Chr10:95552674 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.287+3G>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001948047] Chr10:93758834 [GRCh38]
Chr10:95518591 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.720C>A (p.Asp240Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001910260] Chr10:93793232 [GRCh38]
Chr10:95552989 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1517C>A (p.Ala506Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001967934] Chr10:93797646 [GRCh38]
Chr10:95557403 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.154A>G (p.Asn52Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001894177] Chr10:93758298 [GRCh38]
Chr10:95518055 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.853G>A (p.Val285Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001908329] Chr10:93796982 [GRCh38]
Chr10:95556739 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1306A>G (p.Lys436Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001912259] Chr10:93797435 [GRCh38]
Chr10:95557192 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1052G>T (p.Ser351Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002042824] Chr10:93797181 [GRCh38]
Chr10:95556938 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1083A>G (p.Lys361=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001894528] Chr10:93797212 [GRCh38]
Chr10:95556969 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.651G>A (p.Lys217=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002043586] Chr10:93792890 [GRCh38]
Chr10:95552647 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.657_658inv (p.Asp220Asn) inversion Autosomal dominant epilepsy with auditory features [RCV001863423] Chr10:93792896..93792897 [GRCh38]
Chr10:95552653..95552654 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.705A>G (p.Gln235=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002024108] Chr10:93793217 [GRCh38]
Chr10:95552974 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.1240A>G (p.Asn414Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001893577] Chr10:93797369 [GRCh38]
Chr10:95557126 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
NM_005097.4(LGI1):c.1580A>G (p.His527Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001894474] Chr10:93797709 [GRCh38]
Chr10:95557466 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.58G>A (p.Ala20Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001892793] Chr10:93758202 [GRCh38]
Chr10:95517959 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1190C>T (p.Pro397Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001912076] Chr10:93797319 [GRCh38]
Chr10:95557076 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1459T>C (p.Tyr487His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002001171]|Inborn genetic diseases [RCV002388989] Chr10:93797588 [GRCh38]
Chr10:95557345 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NC_000010.10:g.(?_95549836)_(95549947_?)del deletion Autosomal dominant epilepsy with auditory features [RCV002037103] Chr10:95549836..95549947 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.941T>A (p.Phe314Tyr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002038963] Chr10:93797070 [GRCh38]
Chr10:95556827 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.983A>G (p.Lys328Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001886859] Chr10:93797112 [GRCh38]
Chr10:95556869 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) duplication Autosomal dominant epilepsy with auditory features [RCV001940095] Chr10:93797727..93797728 [GRCh38]
Chr10:95557484..95557485 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1081A>C (p.Lys361Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001897049] Chr10:93797210 [GRCh38]
Chr10:95556967 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.505G>A (p.Asp169Asn) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002010988] Chr10:93792744 [GRCh38]
Chr10:95552501 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.443dup (p.Asn148fs) duplication Autosomal dominant epilepsy with auditory features [RCV001956161] Chr10:93790107..93790108 [GRCh38]
Chr10:95549864..95549865 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.158C>T (p.Ala53Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001973627] Chr10:93758302 [GRCh38]
Chr10:95518059 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.657_658delinsCC (p.Asp220His) indel Autosomal dominant epilepsy with auditory features [RCV002015979] Chr10:93792896..93792897 [GRCh38]
Chr10:95552653..95552654 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.680C>T (p.Ala227Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002049112]|Inborn genetic diseases [RCV002549060] Chr10:93793192 [GRCh38]
Chr10:95552949 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.64T>A (p.Phe22Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001880296] Chr10:93758208 [GRCh38]
Chr10:95517965 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1611T>G (p.Phe537Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001937106]|not provided [RCV002286855] Chr10:93797740 [GRCh38]
Chr10:95557497 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1096G>A (p.Gly366Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002018876] Chr10:93797225 [GRCh38]
Chr10:95556982 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1369G>A (p.Val457Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001866315] Chr10:93797498 [GRCh38]
Chr10:95557255 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1552A>G (p.Asn518Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002033297] Chr10:93797681 [GRCh38]
Chr10:95557438 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001939695]|Epilepsy, familial temporal lobe, 1 [RCV003228039] Chr10:93797117 [GRCh38]
Chr10:95556874 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.133G>A (p.Val45Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001905449]|not provided [RCV003234124] Chr10:93758277 [GRCh38]
Chr10:95518034 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1368A>G (p.Lys456=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001905456]|Inborn genetic diseases [RCV002386623] Chr10:93797497 [GRCh38]
Chr10:95557254 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_005097.4(LGI1):c.835A>G (p.Thr279Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001924567] Chr10:93793347 [GRCh38]
Chr10:95553104 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.887A>G (p.Tyr296Cys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001876374] Chr10:93797016 [GRCh38]
Chr10:95556773 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.360A>G (p.Leu120=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV001936055] Chr10:93777546 [GRCh38]
Chr10:95537303 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.989G>A (p.Arg330Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002046269] Chr10:93797118 [GRCh38]
Chr10:95556875 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.593T>C (p.Ile198Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002010066] Chr10:93792832 [GRCh38]
Chr10:95552589 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1671A>C (p.Ala557=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002208716] Chr10:93797800 [GRCh38]
Chr10:95557557 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.327T>C (p.Asp109=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002086706] Chr10:93777418 [GRCh38]
Chr10:95537175 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1614T>C (p.Ala538=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002092048] Chr10:93797743 [GRCh38]
Chr10:95557500 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.612A>G (p.Pro204=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002197650] Chr10:93792851 [GRCh38]
Chr10:95552608 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.84G>T (p.Ala28=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002149686] Chr10:93758228 [GRCh38]
Chr10:95517985 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.838+18A>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002195458] Chr10:93793368 [GRCh38]
Chr10:95553125 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.287+15T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002114372] Chr10:93758846 [GRCh38]
Chr10:95518603 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.528T>C (p.Asn176=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002173547] Chr10:93792767 [GRCh38]
Chr10:95552524 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-5_432-4insTC insertion Autosomal dominant epilepsy with auditory features [RCV002207900] Chr10:93790094..93790095 [GRCh38]
Chr10:95549851..95549852 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1123G>A (p.Ala375Thr) single nucleotide variant Inborn genetic diseases [RCV003164306]|not provided [RCV002211155] Chr10:93797252 [GRCh38]
Chr10:95557009 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.942T>C (p.Phe314=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002149170] Chr10:93797071 [GRCh38]
Chr10:95556828 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.297A>C (p.Thr99=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002192094] Chr10:93777388 [GRCh38]
Chr10:95537145 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.96T>C (p.Thr32=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002212862] Chr10:93758240 [GRCh38]
Chr10:95517997 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1442del (p.Pro481fs) deletion Genitopatellar syndrome [RCV002077370] Chr10:93797570 [GRCh38]
Chr10:95557327 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1371C>T (p.Val457=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002125916] Chr10:93797500 [GRCh38]
Chr10:95557257 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.360-13T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002157257] Chr10:93777533 [GRCh38]
Chr10:95537290 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1095del (p.Asn365fs) deletion Epilepsy, familial temporal lobe, 1 [RCV002244147] Chr10:93797224 [GRCh38]
Chr10:95556981 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.261T>C (p.Phe87=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002139290] Chr10:93758805 [GRCh38]
Chr10:95518562 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.216-15T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002081535] Chr10:93758745 [GRCh38]
Chr10:95518502 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1422A>G (p.Arg474=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002136068] Chr10:93797551 [GRCh38]
Chr10:95557308 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.216-18T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002143322] Chr10:93758742 [GRCh38]
Chr10:95518499 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-20C>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002103912] Chr10:93790079 [GRCh38]
Chr10:95549836 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1365C>T (p.Ser455=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002140046] Chr10:93797494 [GRCh38]
Chr10:95557251 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1419G>A (p.Ser473=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002097905] Chr10:93797548 [GRCh38]
Chr10:95557305 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-5_432-4insTA insertion Autosomal dominant epilepsy with auditory features [RCV002159931] Chr10:93790094..93790095 [GRCh38]
Chr10:95549851..95549852 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.907T>C (p.Phe303Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003110787] Chr10:93797036 [GRCh38]
Chr10:95556793 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.438T>G (p.Leu146=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003118018] Chr10:93790105 [GRCh38]
Chr10:95549862 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1428C>A (p.Ser476=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003111847] Chr10:93797557 [GRCh38]
Chr10:95557314 [GRCh37]
Chr10:10q23.33		 likely benign
NC_000010.10:g.(?_95517902)_(95518136_?)del deletion Autosomal dominant epilepsy with auditory features [RCV003116308] Chr10:95517902..95518136 [GRCh37]
Chr10:10q23.33		 pathogenic
NC_000010.10:g.(?_95549836)_(95557560_?)dup duplication Autosomal dominant epilepsy with auditory features [RCV003116309] Chr10:95549836..95557560 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.821A>G (p.Asn274Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003115392] Chr10:93793333 [GRCh38]
Chr10:95553090 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1125G>A (p.Ala375=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003115126] Chr10:93797254 [GRCh38]
Chr10:95557011 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1185A>G (p.Arg395=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003118746] Chr10:93797314 [GRCh38]
Chr10:95557071 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.674-16T>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003121591] Chr10:93793170 [GRCh38]
Chr10:95552927 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.869T>G (p.Val290Gly) single nucleotide variant Inborn genetic diseases [RCV003295630] Chr10:93796998 [GRCh38]
Chr10:95556755 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.606_607delinsA (p.Pro204fs) indel not provided [RCV002275958] Chr10:93792845..93792846 [GRCh38]
Chr10:95552602..95552603 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.741T>C (p.Asp247=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003763142]|Inborn genetic diseases [RCV002384991]|not provided [RCV003426401] Chr10:93793253 [GRCh38]
Chr10:95553010 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.962T>C (p.Ile321Thr) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV002289308] Chr10:93797091 [GRCh38]
Chr10:95556848 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV002267681] Chr10:93758797 [GRCh38]
Chr10:95518554 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33		 pathogenic
NM_005097.4(LGI1):c.744G>C (p.Glu248Asp) single nucleotide variant not provided [RCV002464745] Chr10:93793256 [GRCh38]
Chr10:95553013 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1355T>C (p.Ile452Thr) single nucleotide variant Autosomal dominant epilepsy [RCV003156202] Chr10:93797484 [GRCh38]
Chr10:95557241 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.429C>G (p.His143Gln) single nucleotide variant not provided [RCV003237198] Chr10:93777615 [GRCh38]
Chr10:95537372 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.496A>C (p.Thr166Pro) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002303733] Chr10:93790163 [GRCh38]
Chr10:95549920 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1516G>A (p.Ala506Thr) single nucleotide variant not provided [RCV002300901] Chr10:93797645 [GRCh38]
Chr10:95557402 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.742G>A (p.Glu248Lys) single nucleotide variant not provided [RCV002308761] Chr10:93793254 [GRCh38]
Chr10:95553011 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1014C>T (p.Phe338=) single nucleotide variant Inborn genetic diseases [RCV002330088] Chr10:93797143 [GRCh38]
Chr10:95556900 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.606C>T (p.Gly202=) single nucleotide variant Inborn genetic diseases [RCV002358361] Chr10:93792845 [GRCh38]
Chr10:95552602 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.53G>A (p.Arg18Lys) single nucleotide variant Inborn genetic diseases [RCV002347258] Chr10:93758197 [GRCh38]
Chr10:95517954 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.73C>T (p.Leu25Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002904045] Chr10:93758217 [GRCh38]
Chr10:95517974 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.839-17C>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002904582] Chr10:93796951 [GRCh38]
Chr10:95556708 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.639T>A (p.Ser213Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003077002] Chr10:93792878 [GRCh38]
Chr10:95552635 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.397C>T (p.His133Tyr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002756484] Chr10:93777583 [GRCh38]
Chr10:95537340 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1403T>C (p.Ile468Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002842310] Chr10:93797532 [GRCh38]
Chr10:95557289 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1667G>A (p.Ser556Asn) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003015182] Chr10:93797796 [GRCh38]
Chr10:95557553 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1581T>C (p.His527=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002614685] Chr10:93797710 [GRCh38]
Chr10:95557467 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.666C>T (p.Ile222=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002996355] Chr10:93792905 [GRCh38]
Chr10:95552662 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.771T>C (p.Thr257=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003053498] Chr10:93793283 [GRCh38]
Chr10:95553040 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1169C>T (p.Thr390Ile) single nucleotide variant Inborn genetic diseases [RCV002762084] Chr10:93797298 [GRCh38]
Chr10:95557055 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.674-18T>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003019214] Chr10:93793168 [GRCh38]
Chr10:95552925 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.83C>T (p.Ala28Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002949483] Chr10:93758227 [GRCh38]
Chr10:95517984 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.75C>G (p.Leu25=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003053241] Chr10:93758219 [GRCh38]
Chr10:95517976 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.34G>A (p.Ala12Thr) single nucleotide variant Inborn genetic diseases [RCV002738250] Chr10:93758178 [GRCh38]
Chr10:95517935 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.*4A>C single nucleotide variant not provided [RCV002510069] Chr10:93797807 [GRCh38]
Chr10:95557564 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.206T>C (p.Val69Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002913336] Chr10:93758350 [GRCh38]
Chr10:95518107 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.663C>T (p.Cys221=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002820706] Chr10:93792902 [GRCh38]
Chr10:95552659 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-15_432-14insAT insertion Autosomal dominant epilepsy with auditory features [RCV003036189] Chr10:93790083..93790084 [GRCh38]
Chr10:95549840..95549841 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.126C>T (p.Cys42=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002639272] Chr10:93758270 [GRCh38]
Chr10:95518027 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.216-12G>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002706388] Chr10:93758748 [GRCh38]
Chr10:95518505 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1419G>T (p.Ser473=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002866507] Chr10:93797548 [GRCh38]
Chr10:95557305 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.432-6_432-5del deletion Inborn genetic diseases [RCV002739041] Chr10:93790080..93790081 [GRCh38]
Chr10:95549837..95549838 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002824342] Chr10:93797525 [GRCh38]
Chr10:95557282 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.691G>T (p.Asp231Tyr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003079706] Chr10:93793203 [GRCh38]
Chr10:95552960 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1373T>C (p.Met458Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002923456] Chr10:93797502 [GRCh38]
Chr10:95557259 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.347A>G (p.His116Arg) single nucleotide variant not provided [RCV003059885] Chr10:93777438 [GRCh38]
Chr10:95537195 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.390T>G (p.Ile130Met) single nucleotide variant Inborn genetic diseases [RCV002767682] Chr10:93777576 [GRCh38]
Chr10:95537333 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.288-14C>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003085993] Chr10:93777365 [GRCh38]
Chr10:95537122 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.431+9G>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002829029] Chr10:93777626 [GRCh38]
Chr10:95537383 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1325G>A (p.Gly442Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002667849] Chr10:93797454 [GRCh38]
Chr10:95557211 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.865A>G (p.Ile289Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002643093] Chr10:93796994 [GRCh38]
Chr10:95556751 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.43C>T (p.Pro15Ser) single nucleotide variant Inborn genetic diseases [RCV002802762] Chr10:93758187 [GRCh38]
Chr10:95517944 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1219C>T (p.Arg407Cys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003058263] Chr10:93797348 [GRCh38]
Chr10:95557105 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1089C>T (p.Asn363=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002625837] Chr10:93797218 [GRCh38]
Chr10:95556975 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.525T>C (p.Phe175=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002890217] Chr10:93792764 [GRCh38]
Chr10:95552521 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1396C>A (p.Gln466Lys) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002928225] Chr10:93797525 [GRCh38]
Chr10:95557282 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.288G>T (p.Leu96Phe) single nucleotide variant Inborn genetic diseases [RCV002827255] Chr10:93777379 [GRCh38]
Chr10:95537136 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.246C>A (p.Ile82=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003023441] Chr10:93758790 [GRCh38]
Chr10:95518547 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1347A>G (p.Thr449=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002876153] Chr10:93797476 [GRCh38]
Chr10:95557233 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1064G>C (p.Gly355Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002667525]|not provided [RCV003322924] Chr10:93797193 [GRCh38]
Chr10:95556950 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.572C>A (p.Thr191Asn) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002954140] Chr10:93792811 [GRCh38]
Chr10:95552568 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.414A>G (p.Leu138=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002957445] Chr10:93777600 [GRCh38]
Chr10:95537357 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.673+2T>C single nucleotide variant Inborn genetic diseases [RCV002813372] Chr10:93792914 [GRCh38]
Chr10:95552671 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.757G>T (p.Ala253Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002922165] Chr10:93793269 [GRCh38]
Chr10:95553026 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1432G>A (p.Val478Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003027332] Chr10:93797561 [GRCh38]
Chr10:95557318 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.53G>C (p.Arg18Thr) single nucleotide variant Inborn genetic diseases [RCV002898217] Chr10:93758197 [GRCh38]
Chr10:95517954 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.219C>G (p.Ser73=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002770272] Chr10:93758763 [GRCh38]
Chr10:95518520 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.44C>G (p.Pro15Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003045035] Chr10:93758188 [GRCh38]
Chr10:95517945 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1319T>C (p.Val440Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002959147] Chr10:93797448 [GRCh38]
Chr10:95557205 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.688C>G (p.Gln230Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002832848] Chr10:93793200 [GRCh38]
Chr10:95552957 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.313G>A (p.Val105Met) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003062292] Chr10:93777404 [GRCh38]
Chr10:95537161 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.913G>A (p.Gly305Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002721779] Chr10:93797042 [GRCh38]
Chr10:95556799 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.510G>A (p.Leu170=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002585878] Chr10:93792749 [GRCh38]
Chr10:95552506 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.287+19A>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003072064] Chr10:93758850 [GRCh38]
Chr10:95518607 [GRCh37]
Chr10:10q23.33		 benign
NM_005097.4(LGI1):c.932G>A (p.Arg311Gln) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002606204] Chr10:93797061 [GRCh38]
Chr10:95556818 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1206T>C (p.Ser402=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002607169] Chr10:93797335 [GRCh38]
Chr10:95557092 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1242C>T (p.Asn414=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV002607170] Chr10:93797371 [GRCh38]
Chr10:95557128 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.374A>G (p.Asn125Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003092583] Chr10:93777560 [GRCh38]
Chr10:95537317 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.167A>G (p.Glu56Gly) single nucleotide variant not provided [RCV003131469] Chr10:93758311 [GRCh38]
Chr10:95518068 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.602A>C (p.Glu201Ala) single nucleotide variant Inborn genetic diseases [RCV003198706] Chr10:93792841 [GRCh38]
Chr10:95552598 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.754A>G (p.Ile252Val) single nucleotide variant not provided [RCV003159400] Chr10:93793266 [GRCh38]
Chr10:95553023 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1610T>G (p.Phe537Cys) single nucleotide variant not provided [RCV003229262] Chr10:93797739 [GRCh38]
Chr10:95557496 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln) single nucleotide variant Epilepsy, familial temporal lobe, 1 [RCV003322701] Chr10:93793302 [GRCh38]
Chr10:95553059 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_005097.4(LGI1):c.1130A>C (p.Tyr377Ser) single nucleotide variant not provided [RCV003321410] Chr10:93797259 [GRCh38]
Chr10:95557016 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.610C>T (p.Pro204Ser) single nucleotide variant not provided [RCV003319040] Chr10:93792849 [GRCh38]
Chr10:95552606 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_005097.4(LGI1):c.1336A>G (p.Ile446Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596244]|not provided [RCV003328961] Chr10:93797465 [GRCh38]
Chr10:95557222 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.216-4T>G single nucleotide variant not provided [RCV003332722] Chr10:93758756 [GRCh38]
Chr10:95518513 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.287+3G>C single nucleotide variant Seizure [RCV003384292] Chr10:93758834 [GRCh38]
Chr10:95518591 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs) duplication Epilepsy, familial temporal lobe, 1 [RCV003448527] Chr10:93793211..93793212 [GRCh38]
Chr10:95552968..95552969 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33		 uncertain significance
NM_005097.4(LGI1):c.673+2T>A single nucleotide variant LGI1-related condition [RCV003403044] Chr10:93792914 [GRCh38]
Chr10:95552671 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.187del (p.Arg63fs) deletion Epilepsy, familial temporal lobe, 1 [RCV003388897] Chr10:93758331 [GRCh38]
Chr10:95518088 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.682_683del (p.Lys228fs) deletion Epilepsy, familial temporal lobe, 1 [RCV003494072] Chr10:93793193..93793194 [GRCh38]
Chr10:95552950..95552951 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_005097.4(LGI1):c.687T>G (p.Ser229=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597024] Chr10:93793199 [GRCh38]
Chr10:95552956 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.360-19A>G single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762404] Chr10:93777527 [GRCh38]
Chr10:95537284 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1011A>C (p.Thr337=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762496] Chr10:93797140 [GRCh38]
Chr10:95556897 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1434G>A (p.Val478=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597166] Chr10:93797563 [GRCh38]
Chr10:95557320 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.673+19T>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596299] Chr10:93792931 [GRCh38]
Chr10:95552688 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1630A>G (p.Asn544Asp) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596439] Chr10:93797759 [GRCh38]
Chr10:95557516 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.359+7A>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596458] Chr10:93777457 [GRCh38]
Chr10:95537214 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1302A>G (p.Ala434=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596406] Chr10:93797431 [GRCh38]
Chr10:95557188 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.288-17G>C single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596813] Chr10:93777362 [GRCh38]
Chr10:95537119 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.221T>C (p.Phe74Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003761716] Chr10:93758765 [GRCh38]
Chr10:95518522 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.359+15T>A single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764270] Chr10:93777465 [GRCh38]
Chr10:95537222 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1381G>A (p.Gly461Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762237] Chr10:93797510 [GRCh38]
Chr10:95557267 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del) microsatellite Autosomal dominant epilepsy with auditory features [RCV003596455] Chr10:93793339..93793341 [GRCh38]
Chr10:95553096..95553098 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.416del (p.Lys139fs) deletion Autosomal dominant epilepsy with auditory features [RCV003762640] Chr10:93777600 [GRCh38]
Chr10:95537357 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.163T>C (p.Cys55Arg) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762684] Chr10:93758307 [GRCh38]
Chr10:95518064 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1176G>C (p.Gln392His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003763693] Chr10:93797305 [GRCh38]
Chr10:95557062 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.598del (p.Cys200fs) deletion Autosomal dominant epilepsy with auditory features [RCV003596856] Chr10:93792837 [GRCh38]
Chr10:95552594 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1066T>C (p.Phe356Leu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596892] Chr10:93797195 [GRCh38]
Chr10:95556952 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1296G>A (p.Val432=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764266] Chr10:93797425 [GRCh38]
Chr10:95557182 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.342T>G (p.Leu114=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596922] Chr10:93777433 [GRCh38]
Chr10:95537190 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.361T>A (p.Phe121Ile) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596981] Chr10:93777547 [GRCh38]
Chr10:95537304 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.747T>C (p.Tyr249=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764394] Chr10:93793259 [GRCh38]
Chr10:95553016 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1586C>T (p.Ser529Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764432] Chr10:93797715 [GRCh38]
Chr10:95557472 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.196C>G (p.Pro66Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762470] Chr10:93758340 [GRCh38]
Chr10:95518097 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.432-11_432-10insCT insertion Autosomal dominant epilepsy with auditory features [RCV003762709] Chr10:93790087..93790088 [GRCh38]
Chr10:95549844..95549845 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1171C>T (p.Pro391Ser) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003763334] Chr10:93797300 [GRCh38]
Chr10:95557057 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1388C>T (p.Ser463Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764306] Chr10:93797517 [GRCh38]
Chr10:95557274 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597027] Chr10:93792839 [GRCh38]
Chr10:95552596 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.882G>C (p.Gln294His) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597050] Chr10:93797011 [GRCh38]
Chr10:95556768 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1188G>A (p.Thr396=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762363] Chr10:93797317 [GRCh38]
Chr10:95557074 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1433T>C (p.Val478Ala) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762435] Chr10:93797562 [GRCh38]
Chr10:95557319 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1515T>C (p.Asp505=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762420] Chr10:93797644 [GRCh38]
Chr10:95557401 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1467T>C (p.Tyr489=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003764437] Chr10:93797596 [GRCh38]
Chr10:95557353 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.758C>T (p.Ala253Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003762449] Chr10:93793270 [GRCh38]
Chr10:95553027 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.742_743delinsAT (p.Glu248Met) indel Autosomal dominant epilepsy with auditory features [RCV003762327] Chr10:93793254..93793255 [GRCh38]
Chr10:95553011..95553012 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.359+14del deletion Autosomal dominant epilepsy with auditory features [RCV003764268] Chr10:93777464 [GRCh38]
Chr10:95537221 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.749T>G (p.Val250Gly) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597162] Chr10:93793261 [GRCh38]
Chr10:95553018 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.329C>T (p.Ala110Val) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597172] Chr10:93777420 [GRCh38]
Chr10:95537177 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.484C>T (p.Leu162=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597189] Chr10:93790151 [GRCh38]
Chr10:95549908 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.828C>G (p.Asp276Glu) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596378] Chr10:93793340 [GRCh38]
Chr10:95553097 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.1474C>T (p.Leu492Phe) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596394] Chr10:93797603 [GRCh38]
Chr10:95557360 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.153T>C (p.Asp51=) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596434] Chr10:93758297 [GRCh38]
Chr10:95518054 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.503+15G>T single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596835] Chr10:93790185 [GRCh38]
Chr10:95549942 [GRCh37]
Chr10:10q23.33		 likely benign
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003596947] Chr10:93797233 [GRCh38]
Chr10:95556990 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_005097.4(LGI1):c.1525G>A (p.Ala509Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003597030] Chr10:93797654 [GRCh38]
Chr10:95557411 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_005097.4(LGI1):c.716T>C (p.Ile239Thr) single nucleotide variant Autosomal dominant epilepsy with auditory features [RCV003820413] Chr10:93793228 [GRCh38]
Chr10:95552985 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 copy number loss not specified [RCV003986861] Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:683
Count of miRNA genes:292
Interacting mature miRNAs:314
Transcripts:ENST00000371413, ENST00000371418, ENST00000464250, ENST00000478763, ENST00000485458, ENST00000542308
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-155057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,554,921 - 95,555,199UniSTSGRCh37
Build 361095,544,911 - 95,545,189RGDNCBI36
Celera1089,295,053 - 89,295,331RGD
Cytogenetic Map10q24UniSTS
HuRef1089,181,675 - 89,181,953UniSTS
TNG Radiation Hybrid Map1044979.0UniSTS
LGI1__6389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,557,136 - 95,557,932UniSTSGRCh37
Build 361095,547,126 - 95,547,922RGDNCBI36
Celera1089,297,268 - 89,298,064RGD
HuRef1089,183,890 - 89,184,686UniSTS
T15408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,557,546 - 95,557,733UniSTSGRCh37
Build 361095,547,536 - 95,547,723RGDNCBI36
Celera1089,297,678 - 89,297,865RGD
Cytogenetic Map10q24UniSTS
HuRef1089,184,300 - 89,184,487UniSTS
Whitehead-YAC Contig Map10 UniSTS
WI-16274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,538,596 - 95,538,744UniSTSGRCh37
Build 361095,528,586 - 95,528,734RGDNCBI36
Celera1089,279,720 - 89,279,868RGD
Cytogenetic Map10q24UniSTS
HuRef1089,166,339 - 89,166,487UniSTS
GeneMap99-GB4 RH Map10445.29UniSTS
Whitehead-RH Map10533.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage
High
Medium 3 39 20 1 1496 4 1 3 19
Low 996 1139 364 80 105 78 1693 381 2126 32 295 41 6 1 137 1465
Below cutoff 1269 1386 1059 394 674 250 2499 1689 81 115 884 1092 147 998 1292

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_131777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF473548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS072315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB546258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC326684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H05384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371413   ⟹   ENSP00000360467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,145 - 93,798,157 (+)Ensembl
RefSeq Acc Id: ENST00000371418   ⟹   ENSP00000360472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,936 - 93,798,159 (+)Ensembl
RefSeq Acc Id: ENST00000464250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,777,557 - 93,778,987 (+)Ensembl
RefSeq Acc Id: ENST00000478763   ⟹   ENSP00000486517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,913 - 93,758,912 (+)Ensembl
RefSeq Acc Id: ENST00000485458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,773,116 - 93,798,113 (+)Ensembl
RefSeq Acc Id: ENST00000626307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,788,325 - 93,798,158 (+)Ensembl
RefSeq Acc Id: ENST00000626946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,792,843 - 93,796,999 (+)Ensembl
RefSeq Acc Id: ENST00000627420   ⟹   ENSP00000487116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,840 - 93,798,174 (+)Ensembl
RefSeq Acc Id: ENST00000627699   ⟹   ENSP00000485868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,076 - 93,759,130 (+)Ensembl
RefSeq Acc Id: ENST00000629035   ⟹   ENSP00000486908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,851 - 93,798,158 (+)Ensembl
RefSeq Acc Id: ENST00000630047   ⟹   ENSP00000485917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,971 - 93,797,850 (+)Ensembl
RefSeq Acc Id: ENST00000630184   ⟹   ENSP00000486607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,938 - 93,792,396 (+)Ensembl
RefSeq Acc Id: ENST00000630412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,788,656 - 93,793,273 (+)Ensembl
RefSeq Acc Id: ENST00000630487   ⟹   ENSP00000486859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,875 - 93,793,347 (+)Ensembl
RefSeq Acc Id: ENST00000635725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,776,867 - 93,777,405 (+)Ensembl
RefSeq Acc Id: ENST00000635804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,794,554 - 93,798,110 (+)Ensembl
RefSeq Acc Id: ENST00000635953   ⟹   ENSP00000490058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,962 - 93,798,108 (+)Ensembl
RefSeq Acc Id: ENST00000636140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,760 - 93,776,880 (+)Ensembl
RefSeq Acc Id: ENST00000636155   ⟹   ENSP00000490355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,028 - 93,806,134 (+)Ensembl
RefSeq Acc Id: ENST00000636232   ⟹   ENSP00000490325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,968 - 93,798,114 (+)Ensembl
RefSeq Acc Id: ENST00000636683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,790 - 93,763,625 (+)Ensembl
RefSeq Acc Id: ENST00000636754   ⟹   ENSP00000489781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,936 - 93,798,059 (+)Ensembl
RefSeq Acc Id: ENST00000636775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,801,168 - 93,806,272 (+)Ensembl
RefSeq Acc Id: ENST00000636946   ⟹   ENSP00000490654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,981 - 93,798,127 (+)Ensembl
RefSeq Acc Id: ENST00000637037   ⟹   ENSP00000490860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,971 - 93,798,110 (+)Ensembl
RefSeq Acc Id: ENST00000637347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,541 - 93,798,174 (+)Ensembl
RefSeq Acc Id: ENST00000637611   ⟹   ENSP00000489682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,962 - 93,798,122 (+)Ensembl
RefSeq Acc Id: ENST00000637689   ⟹   ENSP00000490496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,971 - 93,798,108 (+)Ensembl
RefSeq Acc Id: ENST00000637925   ⟹   ENSP00000489763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,758,015 - 93,798,113 (+)Ensembl
RefSeq Acc Id: ENST00000638049   ⟹   ENSP00000490597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,757,971 - 93,798,110 (+)Ensembl
RefSeq Acc Id: ENST00000676175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,787,929 - 93,798,117 (+)Ensembl
RefSeq Acc Id: NM_001308275   ⟹   NP_001295204
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
CHM1_11095,800,134 - 95,839,515 (+)NCBI
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308276   ⟹   NP_001295205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
CHM1_11095,800,134 - 95,839,515 (+)NCBI
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005097   ⟹   NP_005088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
GRCh371095,517,566 - 95,557,916 (+)ENTREZGENE
Build 361095,507,668 - 95,547,906 (+)NCBI Archive
HuRef1089,145,309 - 89,184,670 (+)ENTREZGENE
CHM1_11095,800,134 - 95,839,515 (+)NCBI
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
Sequence:
RefSeq Acc Id: NR_131777
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
CHM1_11095,800,134 - 95,839,515 (+)NCBI
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016911   ⟹   XP_016872400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016912   ⟹   XP_016872401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,798,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054367142   ⟹   XP_054223117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
RefSeq Acc Id: XM_054367143   ⟹   XP_054223118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,637,831 - 94,677,073 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001295204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295205 (Get FASTA)   NCBI Sequence Viewer  
  NP_005088 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872400 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223118 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC99316 (Get FASTA)   NCBI Sequence Viewer  
  AAH22500 (Get FASTA)   NCBI Sequence Viewer  
  AAM22074 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89244 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33926 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33927 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33928 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33929 (Get FASTA)   NCBI Sequence Viewer  
  BAD92645 (Get FASTA)   NCBI Sequence Viewer  
  BAF82395 (Get FASTA)   NCBI Sequence Viewer  
  BAG64882 (Get FASTA)   NCBI Sequence Viewer  
  CAI93453 (Get FASTA)   NCBI Sequence Viewer  
  EAW50051 (Get FASTA)   NCBI Sequence Viewer  
  EAW50052 (Get FASTA)   NCBI Sequence Viewer  
  EAW50053 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000360467
  ENSP00000360467.3
  ENSP00000360472
  ENSP00000360472.4
  ENSP00000485868.1
  ENSP00000485917
  ENSP00000485917.1
  ENSP00000486517.1
  ENSP00000486607.1
  ENSP00000486859.1
  ENSP00000486908.1
  ENSP00000487116.1
  ENSP00000489682.1
  ENSP00000489763.1
  ENSP00000489781.1
  ENSP00000490058
  ENSP00000490058.1
  ENSP00000490325.1
  ENSP00000490355.1
  ENSP00000490496.1
  ENSP00000490597.1
  ENSP00000490654.1
  ENSP00000490860.1
GenBank Protein O95970 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005088   ⟸   NM_005097
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NI23 (UniProtKB/Swiss-Prot),   Q5W002 (UniProtKB/Swiss-Prot),   Q5W001 (UniProtKB/Swiss-Prot),   B4E1S0 (UniProtKB/Swiss-Prot),   A8K0Z1 (UniProtKB/Swiss-Prot),   Q96LF5 (UniProtKB/Swiss-Prot),   O95970 (UniProtKB/Swiss-Prot),   A0A0S2Z4S7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295204   ⟸   NM_001308275
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0S2Z4X3 (UniProtKB/TrEMBL),   A0A1B0GV33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295205   ⟸   NM_001308276
- Peptide Label: isoform 3 precursor
- UniProtKB: O95970 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872401   ⟸   XM_017016912
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z5G1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872400   ⟸   XM_017016911
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GUD3 (UniProtKB/TrEMBL),   A0A1B0GV33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360467   ⟸   ENST00000371413
RefSeq Acc Id: ENSP00000360472   ⟸   ENST00000371418
RefSeq Acc Id: ENSP00000486517   ⟸   ENST00000478763
RefSeq Acc Id: ENSP00000490058   ⟸   ENST00000635953
RefSeq Acc Id: ENSP00000490325   ⟸   ENST00000636232
RefSeq Acc Id: ENSP00000490355   ⟸   ENST00000636155
RefSeq Acc Id: ENSP00000490654   ⟸   ENST00000636946
RefSeq Acc Id: ENSP00000489781   ⟸   ENST00000636754
RefSeq Acc Id: ENSP00000489763   ⟸   ENST00000637925
RefSeq Acc Id: ENSP00000489682   ⟸   ENST00000637611
RefSeq Acc Id: ENSP00000490496   ⟸   ENST00000637689
RefSeq Acc Id: ENSP00000490860   ⟸   ENST00000637037
RefSeq Acc Id: ENSP00000490597   ⟸   ENST00000638049
RefSeq Acc Id: ENSP00000485868   ⟸   ENST00000627699
RefSeq Acc Id: ENSP00000487116   ⟸   ENST00000627420
RefSeq Acc Id: ENSP00000486908   ⟸   ENST00000629035
RefSeq Acc Id: ENSP00000485917   ⟸   ENST00000630047
RefSeq Acc Id: ENSP00000486859   ⟸   ENST00000630487
RefSeq Acc Id: ENSP00000486607   ⟸   ENST00000630184
RefSeq Acc Id: XP_054223117   ⟸   XM_054367142
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GUD3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223118   ⟸   XM_054367143
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z5G1 (UniProtKB/TrEMBL)
Protein Domains
LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95970-F1-model_v2 AlphaFold O95970 1-557 view protein structure

Promoters
RGD ID:7218207
Promoter ID:EPDNEW_H14849
Type:initiation region
Name:LGI1_1
Description:leucine rich glioma inactivated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14850  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,757,936 - 93,757,996EPDNEW
RGD ID:7218209
Promoter ID:EPDNEW_H14850
Type:single initiation site
Name:LGI1_2
Description:leucine rich glioma inactivated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14849  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,788,373 - 93,788,433EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6572 AgrOrtholog
COSMIC LGI1 COSMIC
Ensembl Genes ENSG00000108231 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371413 ENTREZGENE
  ENST00000371413.4 UniProtKB/Swiss-Prot
  ENST00000371418 ENTREZGENE
  ENST00000371418.9 UniProtKB/Swiss-Prot
  ENST00000478763.2 UniProtKB/TrEMBL
  ENST00000627420 ENTREZGENE
  ENST00000627420.2 UniProtKB/TrEMBL
  ENST00000627699.1 UniProtKB/TrEMBL
  ENST00000629035.2 UniProtKB/TrEMBL
  ENST00000630047 ENTREZGENE
  ENST00000630047.2 UniProtKB/Swiss-Prot
  ENST00000630184.2 UniProtKB/TrEMBL
  ENST00000630487.2 UniProtKB/TrEMBL
  ENST00000635953 ENTREZGENE
  ENST00000635953.1 UniProtKB/TrEMBL
  ENST00000636155.1 UniProtKB/TrEMBL
  ENST00000636232.1 UniProtKB/TrEMBL
  ENST00000636754.1 UniProtKB/TrEMBL
  ENST00000636946.1 UniProtKB/TrEMBL
  ENST00000637037.1 UniProtKB/TrEMBL
  ENST00000637611.1 UniProtKB/TrEMBL
  ENST00000637689.1 UniProtKB/TrEMBL
  ENST00000637925.1 UniProtKB/TrEMBL
  ENST00000638049.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108231 GTEx
HGNC ID HGNC:6572 ENTREZGENE
Human Proteome Map LGI1 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9211 ENTREZGENE
OMIM 604619 OMIM
PANTHER LEUCINE-RICH GLIOMA-INACTIVATED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EPTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30349 PharmGKB
PROSITE EAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SFE3_HUMAN UniProtKB/TrEMBL
  A0A0D9SFH6_HUMAN UniProtKB/TrEMBL
  A0A0D9SFS5_HUMAN UniProtKB/TrEMBL
  A0A0D9SFU4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4S7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4X3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5G1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTM5_HUMAN UniProtKB/TrEMBL
  A0A1B0GUD3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GV33 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GVF6_HUMAN UniProtKB/TrEMBL
  A0A1B0GVP2_HUMAN UniProtKB/TrEMBL
  A0A1B0GWB4_HUMAN UniProtKB/TrEMBL
  A8K0Z1 ENTREZGENE
  B4E1S0 ENTREZGENE
  LGI1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5W001 ENTREZGENE
  Q5W002 ENTREZGENE
  Q8NI23 ENTREZGENE
  Q96LF5 ENTREZGENE
UniProt Secondary A8K0Z1 UniProtKB/Swiss-Prot
  B4E1S0 UniProtKB/Swiss-Prot
  Q5W001 UniProtKB/Swiss-Prot
  Q5W002 UniProtKB/Swiss-Prot
  Q8NI23 UniProtKB/Swiss-Prot
  Q96LF5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 LGI1  leucine rich glioma inactivated 1  LGI1  leucine-rich, glioma inactivated 1  Symbol and/or name change 5135510 APPROVED