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Items: 42

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Apr 24, 2012)
no assertion criteria provided
2.
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Feb 1, 2007)
no assertion criteria provided
3.
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Sep 1, 2004)
no assertion criteria provided
4.
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Mar 1, 2002)
no assertion criteria provided
5.
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Jun 15, 2005)
no assertion criteria provided
6.
GRCh37:
Chr10:95518025
GRCh38:
Chr10:93758268
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
7.
GRCh37:
Chr10:95518025
GRCh38:
Chr10:93758268
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
8.
GRCh37:
Chr10:95518037
GRCh38:
Chr10:93758280
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
9.
GRCh37:
Chr10:95518092
GRCh38:
Chr10:93758335
LGI1not specifiedUncertain significance
(Jun 19, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr10:95518570
GRCh38:
Chr10:93758813
LGI1not specifiedUncertain significance
(Jun 23, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr10:95518573
GRCh38:
Chr10:93758816
LGI1not specifiedUncertain significance
(Aug 18, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr10:95537142
GRCh38:
Chr10:93777385
LGI1not specifiedUncertain significance
(Feb 14, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr10:95537193
GRCh38:
Chr10:93777436
LGI1not specifiedGMAF:0.00040(G)Benign
(Jan 24, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr10:95537206
GRCh38:
Chr10:93777449
LGI1not specifiedUncertain significance
(Oct 16, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr10:95537308
GRCh38:
Chr10:93777551
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Jul 1, 2008)
no assertion criteria provided
16.
GRCh37:
Chr10:95537349
GRCh38:
Chr10:93777592
LGI1Epilepsy, lateral temporal lobe, autosomal dominant, not providedPathogenic
(Jan 12, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr10:95552480
GRCh38:
Chr10:93792723
LGI1not specifiedLikely benign
(Oct 1, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr10:95552515
GRCh38:
Chr10:93792758
LGI1not providedUncertain significance
(Aug 27, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr10:95552596
GRCh38:
Chr10:93792839
LGI1Epilepsy, lateral temporal lobe, autosomal dominant, not specifiedGMAF:0.00060(T)Benign
(Jan 27, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:95552653
GRCh38:
Chr10:93792896
LGI1Epilepsy, lateral temporal lobe, autosomal dominantGMAF:0.02260(T)Likely benign
(Jan 3, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr10:95552964
GRCh38:
Chr10:93793207
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Feb 1, 2007)
no assertion criteria provided
22.
GRCh37:
Chr10:95552986
GRCh38:
Chr10:93793229
LGI1not specifiedBenign
(Jul 16, 2013)
criteria provided, single submitter
23.
GRCh37:
Chr10:95553013
GRCh38:
Chr10:93793256
LGI1not specifiedGMAF:0.00020(A)Benign
(Apr 9, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr10:95553027
GRCh38:
Chr10:93793270
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
25.
GRCh37:
Chr10:95553081
GRCh38:
Chr10:93793324
LGI1not specifiedUncertain significance
(Jun 5, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr10:95556839
GRCh38:
Chr10:93797082
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(May 27, 2003)
no assertion criteria provided
27.
GRCh37:
Chr10:95556884
GRCh38:
Chr10:93797127
LGI1not specifiedUncertain significance
(Nov 17, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr10:95556899
GRCh38:
Chr10:93797142
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Jul 7, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr10:95556992
GRCh38:
Chr10:93797235
LGI1not specifiedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr10:95556994
GRCh38:
Chr10:93797237
LGI1not specifiedUncertain significance
(May 11, 2012)
criteria provided, single submitter
31.
GRCh37:
Chr10:95557034
GRCh38:
Chr10:93797277
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Feb 1, 2007)
no assertion criteria provided
32.
GRCh37:
Chr10:95557041
GRCh38:
Chr10:93797284
LGI1not specifiedBenign
(Sep 25, 2013)
criteria provided, single submitter
33.
GRCh37:
Chr10:95557160
GRCh38:
Chr10:93797403
LGI1not specifiedUncertain significance
(Jan 24, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr10:95557186
GRCh38:
Chr10:93797429
LGI1not specifiedUncertain significance
(Jul 23, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr10:95557304
GRCh38:
Chr10:93797547
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
36.
GRCh37:
Chr10:95557306
GRCh38:
Chr10:93797549
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
37.
GRCh37:
Chr10:95557555
GRCh38:
Chr10:93797798
LGI1not specifiedUncertain significance
(Mar 18, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr10:95464133-95545376
GRCh38:
Chr10:93704376-93785619
LGI1Epilepsy, lateral temporal lobe, autosomal dominantPathogenic
(Aug 27, 2015)
no assertion criteria provided
39.
GRCh37:
Chr10:94403676-97230894
GRCh38:
Chr10:92643919-95471137
See casesPathogenic
(Nov 4, 2011)
no assertion criteria provided
40.
GRCh37:
Chr10:92808302-135434178
GRCh38:
Chr10:91048545-133620674
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNTT, DOCK1, DUSP5, ECHS1, EMX2, FGF8, FGFR2, GFRA1, GOT1, PRLHR, GPR26, GRK5, HABP2, HELLS, HHEX, HMX2, TLX1, HPS1, IDE, INPP5A, KIF11, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PDE6C, PGAM1, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, PPP1R3C, HTRA1, PSD, PTPRE, ALDH18A1, RBP4, RGS10, SCD, SFRP5, FBXW4, SLC18A2, SLIT1, TAF5, TCF7L2, TECTB, TIAL1, TLL2, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, GBF1, LDB1, BTRC, PKD2L1, BTAF1, INA, PDLIM1, SMC3, NEURL1, BUB3, LGI1, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, ZNF518A, DCLRE1A, FRAT1, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, MGEA5, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, CPEB3, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, FAM175B, RRP12, TBC1D12, DNMBP, FRAT2, DPCD, SEC31B, ATRNL1, EDRF1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, PDCD4, VENTX, R3HCC1L, POLL, BLNK, KCNIP2, CUZD1, CALY, EXOSC1, CALHM2, CUTC, PLCE1, CHST15, SUFU, ACSL5, EXOC6, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, CWF19L1, PI4K2A, HIF1AN, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, C10orf2, TM9SF3, ENTPD7, AS3MT, GPAM, SHTN1, FAM160B1, SEMA4G, PLEKHA1, AVPI1, HPSE2, FAM204A, LHPP, MMS19, NOC3L, IKZF5, ZDHHC6, CUEDC2, FBXL15, C10orf76, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, OBFC1, C10orf88, UBTD1, CFAP43, LRRC27, TNKS2, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, PCGF5, ADGRA1, LZTS2, LCOR, NKX6-2, MRPL43, AFAP1L2, PYROXD2, USMG5, ARHGAP19, KNDC1, ITPRIP, OLMALINC, MTG1, BBIP1, FANK1, OPALIN, SYCE1, HOGA1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, PIK3AP1, MORN4, ZFYVE27, MMP21, FRA10AC1, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, ACSM6, TRUB1, VTI1A, HECTD2, FGFBP3, C10orf82, CACUL1, NKX2-3, SLC35G1, CFAP58, C10orf91, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, PDCD4-AS1, LOC283038, WDR11-AS1, FFAR4, KCNK18, CYP26C1, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, CC2D2B, ENO4, ARMS2, TEX36, LINC00959, NKX1-2, LBX1-AS1, C10orf120, METTL10, FLJ37035, FOXI2, LINC01164, LINC01168, GOLGA7B, LINC01561, FAM45A, C10orf62, SPRN, MIR146B, MIR202, NPS, SNORA19, FAM196A, SNORA12, MIR607, MIR608, MIR609, ENTPD1-AS1, RPEL1, TLX1NB, MIR936, C10orf131, PLCE1-AS1, ADGRA1-AS1, LINC01165, ATE1-AS1, TEX36-AS1, HECTD2-AS1, DNMBP-AS1, KCNIP2-AS1, MIR1287, MIR1307, MIR2110, MIR548E, MIR378C, MIR4297, MIR3157, MIR3158-1, MIR4295, MIR3158-2, MIR4296, MIR3941, MIR3663, MIR3944, SLIT1-AS1, LINC00866, RPARP-AS1, SH3PXD2A-AS1, CFAP58-AS1, SORCS3-AS1, ADD3-AS1, LINC00867, TNKS2-AS1, BORCS7-ASMT, ARHGAP19-SLIT1, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4482, MIR4484, MIR4681, MIR4685, LINC00502, LINC00601, FANK1-AS1, PLCE1-AS2, LOC101927278, LINC01475, LINC01163, LINC01514, LOC101927419, LOC101927472, TCERG1L-AS1, LOC101927523, LOC101927549, LINC01166, MIR202HG, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6507, MIR6715B, MIR6715A, LOC102723665, CYP17A1-AS1, NEURL1-AS1, LOC102724589, LOC103344931, LINC01435, LINC01167, LOC105378470, AS-PTPRE, SNORA87
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr10:94940958-103116536
GRCh38:
Chr10:93181201-101356779
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr10:94386437-99514859
GRCh38:
Chr10:92626680-97755102
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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