CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit) - Rat Genome Database

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Gene: CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit) Homo sapiens
Analyze
Symbol: CHRNA2
Name: cholinergic receptor nicotinic alpha 2 subunit
RGD ID: 735907
HGNC Page HGNC
Description: Enables acetylcholine receptor activity and acetylcholine-gated cation-selective channel activity. Involved in membrane depolarization and signal transduction. Located in intercellular bridge; nucleoplasm; and plasma membrane. Part of acetylcholine-gated channel complex. Implicated in autosomal dominant nocturnal frontal lobe epilepsy 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylcholine receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic alpha 2; cholinergic receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal); neuronal acetylcholine receptor subunit alpha-2
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
GRCh38827,459,756 - 27,479,261 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl827,459,756 - 27,479,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,317,273 - 27,336,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,373,195 - 27,392,730 (-)NCBINCBI36hg18NCBI36
Build 34827,374,181 - 27,392,675NCBI
Celera826,277,396 - 26,296,925 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef825,862,340 - 25,881,872 (-)NCBIHuRef
CHM1_1827,519,147 - 27,538,678 (-)NCBICHM1_1
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,1-dimethyl-4-phenylpiperazinium iodide  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acetylcholine  (EXP,ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
atrazine  (EXP)
barium(0)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bexarotene  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butan-1-ol  (EXP)
butan-2-ol  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
carbachol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
crotyl alcohol  (EXP)
cytisine  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
dihydro-beta-erythroidine  (ISO)
epibatidine  (EXP,ISO)
ethanol  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
glyphosate  (ISO)
isobutanol  (EXP)
mercaptopurine  (ISO)
methapyrilene  (EXP)
methyllycaconitine  (ISO)
methylmercury chloride  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nicotine  (EXP,ISO)
paracetamol  (ISO)
pentan-1-ol  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
propan-1-ol  (EXP)
propan-2-ol  (EXP)
purine-6-thiol  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
tert-butanol  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
tubocurarine  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1505988   PMID:7570187   PMID:7708749   PMID:8906617   PMID:8996215   PMID:9193799   PMID:10336173   PMID:12121305   PMID:12477932   PMID:12783266   PMID:15028279   PMID:15996750  
PMID:16344560   PMID:16421571   PMID:16826524   PMID:17373692   PMID:17559419   PMID:17602836   PMID:18165968   PMID:18226955   PMID:18384978   PMID:18588430   PMID:18991851   PMID:19058950  
PMID:19059502   PMID:19086053   PMID:19156168   PMID:19259974   PMID:19307444   PMID:19383498   PMID:20201926   PMID:20231857   PMID:20301348   PMID:20584212   PMID:20734064   PMID:20736995  
PMID:21287502   PMID:21873635   PMID:23943838   PMID:24253422   PMID:24467848   PMID:24950454   PMID:25450229   PMID:25770198   PMID:25847220   PMID:27493220   PMID:29688589   PMID:29785025  
PMID:31209380  


Genomics

Comparative Map Data
CHRNA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,459,756 - 27,479,261 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl827,459,756 - 27,479,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,317,273 - 27,336,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,373,195 - 27,392,730 (-)NCBINCBI36hg18NCBI36
Build 34827,374,181 - 27,392,675NCBI
Celera826,277,396 - 26,296,925 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef825,862,340 - 25,881,872 (-)NCBIHuRef
CHM1_1827,519,147 - 27,538,678 (-)NCBICHM1_1
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Chrna2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,370,685 - 66,390,397 (+)NCBIGRCm39mm39
GRCm39 Ensembl1466,372,488 - 66,390,397 (+)Ensembl
GRCm381466,133,236 - 66,152,948 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1466,135,039 - 66,152,948 (+)EnsemblGRCm38mm10GRCm38
MGSCv371466,759,797 - 66,771,785 (+)NCBIGRCm37mm9NCBIm37
MGSCv361465,095,070 - 65,107,058 (+)NCBImm8
Celera1463,889,359 - 63,901,395 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Chrna2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21540,342,317 - 40,358,601 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1540,342,317 - 40,358,601 (+)Ensembl
Rnor_6.01542,808,897 - 42,825,179 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1542,808,897 - 42,825,179 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01548,768,230 - 48,785,192 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41545,570,809 - 45,587,091 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11545,586,588 - 45,602,871 (+)NCBI
Celera1540,015,644 - 40,031,870 (+)NCBICelera
Cytogenetic Map15p12NCBI
Chrna2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540349,970,398 - 49,989,137 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540349,970,398 - 49,989,095 (-)NCBIChiLan1.0ChiLan1.0
CHRNA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1823,932,846 - 23,952,377 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl823,932,846 - 23,952,377 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0826,729,767 - 26,749,277 (-)NCBIMhudiblu_PPA_v0panPan3
CHRNA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12530,117,384 - 30,137,223 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2530,117,239 - 30,135,599 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2530,711,637 - 30,723,506 (+)NCBI
ROS_Cfam_1.02530,316,301 - 30,326,148 (+)NCBI
ROS_Cfam_1.0 Ensembl2530,307,340 - 30,325,726 (+)Ensembl
UMICH_Zoey_3.12530,245,712 - 30,257,580 (+)NCBI
UNSW_CanFamBas_1.02530,126,596 - 30,137,323 (+)NCBI
UU_Cfam_GSD_1.02530,292,990 - 30,304,860 (+)NCBI
Chrna2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049438,251,532 - 8,258,650 (+)NCBI
SpeTri2.0NW_004936675327,501 - 334,493 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,191,842 - 11,207,381 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11411,193,732 - 11,204,334 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21412,374,481 - 12,388,291 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1825,571,958 - 25,591,982 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl825,571,863 - 25,591,788 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605216,552,356 - 16,572,243 (+)NCBIVero_WHO_p1.0
Chrna2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475822,182,468 - 22,200,076 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D8S131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,336,710 - 27,336,852UniSTSGRCh37
GRCh37827,348,166 - 27,348,312UniSTSGRCh37
GRCh37827,336,714 - 27,336,854UniSTSGRCh37
Celera826,296,822 - 26,296,964UniSTS
Celera826,308,279 - 26,308,417UniSTS
Celera826,296,826 - 26,296,966UniSTS
Cytogenetic Map8p21UniSTS
HuRef825,881,773 - 25,881,913UniSTS
HuRef825,881,769 - 25,881,911UniSTS
HuRef825,893,221 - 25,893,359UniSTS
Marshfield Genetic Map854.98RGD
deCODE Assembly Map846.42UniSTS
CHRNA2_2606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,318,089 - 27,318,850UniSTSGRCh37
Build 36827,374,006 - 27,374,767RGDNCBI36
Celera826,278,207 - 26,278,968RGD
HuRef825,863,151 - 25,863,912UniSTS
D8S131  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5528
Count of miRNA genes:1139
Interacting mature miRNAs:1448
Transcripts:ENST00000240132, ENST00000407991, ENST00000518712, ENST00000520208, ENST00000520600, ENST00000520650, ENST00000520933, ENST00000521921, ENST00000522008, ENST00000523529, ENST00000523695, ENST00000524096
Prediction methods:Microtar, 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.


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 1 1 1 20 147 1
Low 7 127 215 5 142 5 234 1 1483 7 97 72 4 159
Below cutoff 1460 1977 1115 321 1264 220 2742 1095 1870 111 783 1078 103 1 801 1767

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF311103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW292180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC153866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA096824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA407151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000240132   ⟹   ENSP00000240132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,461,603 - 27,478,851 (-)Ensembl
RefSeq Acc Id: ENST00000407991   ⟹   ENSP00000385026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,459,756 - 27,479,261 (-)Ensembl
RefSeq Acc Id: ENST00000518712   ⟹   ENSP00000430856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,469,812 - 27,478,929 (-)Ensembl
RefSeq Acc Id: ENST00000520208   ⟹   ENSP00000430994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,471,002 - 27,479,857 (-)Ensembl
RefSeq Acc Id: ENST00000520600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,460,576 - 27,467,517 (-)Ensembl
RefSeq Acc Id: ENST00000520650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,471,140 - 27,479,291 (-)Ensembl
RefSeq Acc Id: ENST00000520933   ⟹   ENSP00000429616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,461,098 - 27,479,013 (-)Ensembl
RefSeq Acc Id: ENST00000521921   ⟹   ENSP00000429953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,469,905 - 27,475,502 (-)Ensembl
RefSeq Acc Id: ENST00000522008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,463,628 - 27,469,408 (-)Ensembl
RefSeq Acc Id: ENST00000523695   ⟹   ENSP00000430612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,461,098 - 27,479,214 (-)Ensembl
RefSeq Acc Id: ENST00000524096   ⟹   ENSP00000430422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,469,349 - 27,479,883 (-)Ensembl
RefSeq Acc Id: ENST00000637241   ⟹   ENSP00000490690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,463,391 - 27,479,261 (-)Ensembl
RefSeq Acc Id: ENST00000637361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,471,189 - 27,479,042 (-)Ensembl
RefSeq Acc Id: NM_000742   ⟹   NP_000733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
GRCh37827,317,278 - 27,336,813 (-)ENTREZGENE
GRCh37827,317,278 - 27,336,813 (-)NCBI
Build 36827,373,195 - 27,392,730 (-)NCBI Archive
HuRef825,862,340 - 25,881,872 (-)ENTREZGENE
CHM1_1827,519,147 - 27,538,678 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282455   ⟹   NP_001269384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
HuRef825,862,340 - 25,881,872 (-)NCBI
CHM1_1827,519,147 - 27,538,678 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347705   ⟹   NP_001334634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347706   ⟹   NP_001334635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347707   ⟹   NP_001334636
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347708   ⟹   NP_001334637
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421311   ⟹   XP_047277267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
RefSeq Acc Id: XM_047421312   ⟹   XP_047277268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
RefSeq Acc Id: XM_047421313   ⟹   XP_047277269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000733   ⟸   NM_000742
- Peptide Label: isoform 1 precursor
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269384   ⟸   NM_001282455
- Peptide Label: isoform 2 precursor
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334634   ⟸   NM_001347705
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001334637   ⟸   NM_001347708
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001334635   ⟸   NM_001347706
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001334636   ⟸   NM_001347707
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000240132   ⟸   ENST00000240132
RefSeq Acc Id: ENSP00000430856   ⟸   ENST00000518712
RefSeq Acc Id: ENSP00000490690   ⟸   ENST00000637241
RefSeq Acc Id: ENSP00000430994   ⟸   ENST00000520208
RefSeq Acc Id: ENSP00000429616   ⟸   ENST00000520933
RefSeq Acc Id: ENSP00000429953   ⟸   ENST00000521921
RefSeq Acc Id: ENSP00000430612   ⟸   ENST00000523695
RefSeq Acc Id: ENSP00000430422   ⟸   ENST00000524096
RefSeq Acc Id: ENSP00000385026   ⟸   ENST00000407991
RefSeq Acc Id: XP_047277269   ⟸   XM_047421313
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047277267   ⟸   XM_047421311
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047277268   ⟸   XM_047421312
- Peptide Label: isoform X1
Protein Domains
Neur_chan_LBD   Neur_chan_memb

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15822-F1-model_v2 AlphaFold Q15822 1-529 view protein structure

Promoters
RGD ID:7212949
Promoter ID:EPDNEW_H12220
Type:initiation region
Name:CHRNA2_1
Description:cholinergic receptor nicotinic alpha 2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,479,259 - 27,479,319EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000552962] Chr8:27463742 [GRCh38]
Chr8:27321259 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-16_295-7dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV000552003]|not provided [RCV001613381] Chr8:27469385..27469386 [GRCh38]
Chr8:27326902..27326903 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000532312] Chr8:27467324 [GRCh38]
Chr8:27324841 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000019056] Chr8:27463607 [GRCh38]
Chr8:27321124 [GRCh37]
Chr8:8p21.2
pathogenic
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000528293] Chr8:27463220 [GRCh38]
Chr8:27320737 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000531251] Chr8:27463671 [GRCh38]
Chr8:27321188 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088970]|not provided [RCV000595848] Chr8:27463459 [GRCh38]
Chr8:27320976 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000542462] Chr8:27463773 [GRCh38]
Chr8:27321290 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000396382]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079224]|not provided [RCV000116709] Chr8:27463209 [GRCh38]
Chr8:27320726 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000347213]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000230291]|Seizure [RCV000715706]|not specified [RCV000116710] Chr8:27463119 [GRCh38]
Chr8:27320636 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000261002]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001510318]|Seizure [RCV000715430]|not provided [RCV001610401]|not specified [RCV000116711] Chr8:27467327 [GRCh38]
Chr8:27324844 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000355819]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001510317]|Seizure [RCV000715242]|not specified [RCV000116712] Chr8:27467305 [GRCh38]
Chr8:27324822 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000295942]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001510319]|Seizure [RCV000715431]|not specified [RCV000116713] Chr8:27470994 [GRCh38]
Chr8:27328511 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000369041]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000460445]|Seizure [RCV000716400]|not provided [RCV001668226]|not specified [RCV000116714] Chr8:27463672 [GRCh38]
Chr8:27321189 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000314332]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000476525]|Seizure [RCV000715963]|not specified [RCV000116715] Chr8:27463530 [GRCh38]
Chr8:27321047 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.340-15C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000316279]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055462]|not specified [RCV000124270] Chr8:27467353 [GRCh38]
Chr8:27324870 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.449+12T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161237]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002055463]|not specified [RCV000124272] Chr8:27467217 [GRCh38]
Chr8:27324734 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000301470]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654329]|Seizure [RCV000718926]|not specified [RCV000179340] Chr8:27463954 [GRCh38]
Chr8:27321471 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.930C>T (p.Phe310=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000390203]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001518255]|not specified [RCV000124275] Chr8:27463513 [GRCh38]
Chr8:27321030 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.945T>C (p.Thr315=) single nucleotide variant not specified [RCV000124276] Chr8:27463498 [GRCh38]
Chr8:27321015 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000768183]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001080927]|Seizure [RCV000717520]|not provided [RCV000419685]|not specified [RCV000124278] Chr8:27463009 [GRCh38]
Chr8:27320526 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.-45C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000394527]|not specified [RCV000124279] Chr8:27471103 [GRCh38]
Chr8:27328620 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001332570] Chr8:27461741 [GRCh38]
Chr8:27319258 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001348881] Chr8:27463985 [GRCh38]
Chr8:27321502 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001303600] Chr8:27461678 [GRCh38]
Chr8:27319195 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.900C>A (p.Cys300Ter) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 4 [RCV001292855] Chr8:27463543 [GRCh38]
Chr8:27321060 [GRCh37]
Chr8:8p21.2
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
NM_000742.4(CHRNA2):c.24C>T (p.Phe8=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001499940]|not provided [RCV000175642] Chr8:27471035 [GRCh38]
Chr8:27328552 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086845]|Seizure [RCV000720085]|not provided [RCV000153030] Chr8:27463570 [GRCh38]
Chr8:27321087 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.576C>T (p.Phe192=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001403709]|not provided [RCV000153031] Chr8:27463867 [GRCh38]
Chr8:27321384 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001080185]|Seizure [RCV000717606]|not provided [RCV000711161] Chr8:27467295 [GRCh38]
Chr8:27324812 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.990G>A (p.Glu330=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001413934]|not provided [RCV000179339] Chr8:27463453 [GRCh38]
Chr8:27320970 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001852183]|not provided [RCV000177088] Chr8:27469828 [GRCh38]
Chr8:27327345 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.339+12_339+13del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV002054191]|Sleep-related hypermotor epilepsy [RCV000361630]|not provided [RCV000186848] Chr8:27469322..27469323 [GRCh38]
Chr8:27326839..27326840 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del) microsatellite Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654317]|Seizure [RCV000720109]|not provided [RCV000186889] Chr8:27467229..27467231 [GRCh38]
Chr8:27324746..27324748 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001857605]|not specified [RCV000186892] Chr8:27461719..27461721 [GRCh38]
Chr8:27319236..27319238 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-12T>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002054190]|not provided [RCV000186847] Chr8:27469391 [GRCh38]
Chr8:27326908 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001432768]|not provided [RCV000654344] Chr8:27467331 [GRCh38]
Chr8:27324848 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000407778]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001081783]|not provided [RCV000711162] Chr8:27463698 [GRCh38]
Chr8:27321215 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000742.4(CHRNA2):c.1181G>C (p.Arg394Pro) single nucleotide variant not specified [RCV000186852] Chr8:27463262 [GRCh38]
Chr8:27320779 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1222G>C (p.Val408Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002054192]|not specified [RCV000186853] Chr8:27463221 [GRCh38]
Chr8:27320738 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000862145]|not specified [RCV000186854] Chr8:27463108 [GRCh38]
Chr8:27320625 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000377222]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654341]|Seizure [RCV000717219]|not specified [RCV000186855] Chr8:27461719 [GRCh38]
Chr8:27319236 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000326277]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000526794]|not provided [RCV001507729] Chr8:27469882 [GRCh38]
Chr8:27327399 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001370927]|not provided [RCV000186858] Chr8:27469834 [GRCh38]
Chr8:27327351 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000793857] Chr8:27469936 [GRCh38]
Chr8:27327453 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001323890]|not provided [RCV000186860] Chr8:27469769 [GRCh38]
Chr8:27327286 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001351596]|not provided [RCV000186864] Chr8:27463940 [GRCh38]
Chr8:27321457 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001339600]|not specified [RCV000186867] Chr8:27463746 [GRCh38]
Chr8:27321263 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001083935]|not provided [RCV000186868] Chr8:27463733 [GRCh38]
Chr8:27321250 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654352]|not provided [RCV001704970] Chr8:27463712 [GRCh38]
Chr8:27321229 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val) single nucleotide variant not provided [RCV000186871] Chr8:27463422 [GRCh38]
Chr8:27320939 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001325935]|not provided [RCV000186872] Chr8:27463379 [GRCh38]
Chr8:27320896 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000764775]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000702455]|not provided [RCV000186873] Chr8:27463370 [GRCh38]
Chr8:27320887 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.339+8_339+9delCC deletion not specified [RCV000186841] Chr8:27469326..27469327 [GRCh38]
Chr8:27326843..27326844 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.74-17C>A single nucleotide variant not specified [RCV000186856] Chr8:27469998 [GRCh38]
Chr8:27327515 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002042803] Chr8:27469373 [GRCh38]
Chr8:27326890 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.307C>A (p.Gln103Lys) single nucleotide variant not provided [RCV000186862] Chr8:27469367 [GRCh38]
Chr8:27326884 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001857604]|not provided [RCV000186863] Chr8:27467246 [GRCh38]
Chr8:27324763 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro) single nucleotide variant not provided [RCV000186865] Chr8:27463914 [GRCh38]
Chr8:27321431 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe) single nucleotide variant not provided [RCV000186866] Chr8:27463853 [GRCh38]
Chr8:27321370 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.725G>A (p.Ser242Asn) single nucleotide variant not provided [RCV000186869] Chr8:27463718 [GRCh38]
Chr8:27321235 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159831]|not provided [RCV000186874] Chr8:27463359 [GRCh38]
Chr8:27320876 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001306819]|not provided [RCV000186876] Chr8:27463295 [GRCh38]
Chr8:27320812 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001302866]|not provided [RCV000186877] Chr8:27463278 [GRCh38]
Chr8:27320795 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001302695]|not provided [RCV000186880] Chr8:27463017 [GRCh38]
Chr8:27320534 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000548543]|not provided [RCV000186881] Chr8:27462979 [GRCh38]
Chr8:27320496 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu) single nucleotide variant not provided [RCV000186882] Chr8:27461688 [GRCh38]
Chr8:27319205 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000694366]|not provided [RCV000186884] Chr8:27469934 [GRCh38]
Chr8:27327451 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.557_558delinsCG (p.Asp186Ala) indel not specified [RCV000186890] Chr8:27463885..27463886 [GRCh38]
Chr8:27321402..27321403 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del) microsatellite not specified [RCV000186891] Chr8:27463554..27463556 [GRCh38]
Chr8:27321071..27321073 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) deletion not provided [RCV000991786]|not specified [RCV000186893] Chr8:27469934 [GRCh38]
Chr8:27327451 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159829]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001852441]|not provided [RCV000186875] Chr8:27463320 [GRCh38]
Chr8:27320837 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.3(CHRNA2):c.1424A>T (p.Tyr475Phe) single nucleotide variant not specified [RCV000186879] Chr8:27463019 [GRCh38]
Chr8:27320536 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000691513]|Seizure [RCV000720830]|not provided [RCV000186883] Chr8:27461651 [GRCh38]
Chr8:27319168 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000615228]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079768]|not provided [RCV000727343] Chr8:27469915 [GRCh38]
Chr8:27327432 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.149C>T (p.Pro50Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001314805]|not provided [RCV000186886] Chr8:27469906 [GRCh38]
Chr8:27327423 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654298]|Seizure [RCV000720451]|not provided [RCV001704971] Chr8:27469873 [GRCh38]
Chr8:27327390 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000291878]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001373739]|Seizure [RCV000720058]|myoclonic epilepsy [RCV000678788]|not provided [RCV000186888] Chr8:27469853 [GRCh38]
Chr8:27327370 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001068668]|Seizure [RCV000720357]|not provided [RCV000186894] Chr8:27467277 [GRCh38]
Chr8:27324794 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser) single nucleotide variant not provided [RCV000186895] Chr8:27467276 [GRCh38]
Chr8:27324793 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001519128]|not provided [RCV000186896] Chr8:27463456 [GRCh38]
Chr8:27320973 [GRCh37]
Chr8:8p21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001360979]|not provided [RCV000186897] Chr8:27463070 [GRCh38]
Chr8:27320587 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.212A>G (p.Asn71Ser) single nucleotide variant not provided [RCV000186898] Chr8:27469843 [GRCh38]
Chr8:27327360 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001197080]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000693208]|not provided [RCV000186899] Chr8:27469840 [GRCh38]
Chr8:27327357 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001365920] Chr8:27469831 [GRCh38]
Chr8:27327348 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000380966]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086367]|not provided [RCV000388259] Chr8:27469889 [GRCh38]
Chr8:27327406 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000697757] Chr8:27463391 [GRCh38]
Chr8:27320908 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000551354]|not provided [RCV001507727] Chr8:27463398 [GRCh38]
Chr8:27320915 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1264A>G (p.Arg422Gly) single nucleotide variant not specified [RCV000518363] Chr8:27463179 [GRCh38]
Chr8:27320696 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.339+10C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000267286]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001426423] Chr8:27469325 [GRCh38]
Chr8:27326842 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000344505]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000535541]|not provided [RCV000486437] Chr8:27463344 [GRCh38]
Chr8:27320861 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance
NM_000742.4(CHRNA2):c.*1809T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000302439] Chr8:27459820 [GRCh38]
Chr8:27317337 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000322341] Chr8:27469795 [GRCh38]
Chr8:27327312 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*602T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000369848] Chr8:27461027 [GRCh38]
Chr8:27318544 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*721G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000269317] Chr8:27460908 [GRCh38]
Chr8:27318425 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*29G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000286486] Chr8:27461600 [GRCh38]
Chr8:27319117 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*108C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000371560]|not provided [RCV001584089] Chr8:27461521 [GRCh38]
Chr8:27319038 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.3(CHRNA2):c.-578A>G single nucleotide variant Sleep-related hypermotor epilepsy [RCV000397970] Chr8:27479265 [GRCh38]
Chr8:27336782 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-537C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000270411] Chr8:27479224 [GRCh38]
Chr8:27336741 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*997C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000304438] Chr8:27460632 [GRCh38]
Chr8:27318149 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-422G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000304225] Chr8:27479109 [GRCh38]
Chr8:27336626 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*1003G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000399890] Chr8:27460626 [GRCh38]
Chr8:27318143 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1480C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000271259] Chr8:27460149 [GRCh38]
Chr8:27317666 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1446A>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000326205] Chr8:27460183 [GRCh38]
Chr8:27317700 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*386G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000375157] Chr8:27461243 [GRCh38]
Chr8:27318760 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-448G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000328965] Chr8:27479135 [GRCh38]
Chr8:27336652 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000350803]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000470715]|Seizure [RCV000718062]|not provided [RCV001311327] Chr8:27471014 [GRCh38]
Chr8:27328531 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000376951] Chr8:27469852 [GRCh38]
Chr8:27327369 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*479G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000329944] Chr8:27461150 [GRCh38]
Chr8:27318667 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-379T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000401239] Chr8:27479066 [GRCh38]
Chr8:27336583 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*511G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000274845] Chr8:27461118 [GRCh38]
Chr8:27318635 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*771C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000309181] Chr8:27460858 [GRCh38]
Chr8:27318375 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.3(CHRNA2):c.-580_-579delGT microsatellite Sleep-related hypermotor epilepsy [RCV000309888] Chr8:27479266..27479267 [GRCh38]
Chr8:27336783..27336784 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1403C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000380860] Chr8:27460226 [GRCh38]
Chr8:27317743 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*1286del deletion Sleep-related hypermotor epilepsy [RCV000292264] Chr8:27460343 [GRCh38]
Chr8:27317860 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.*1392A>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000331931] Chr8:27460237 [GRCh38]
Chr8:27317754 [GRCh37]
Chr8:8p21.2
benign|uncertain significance
NM_000742.4(CHRNA2):c.*1006G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000334586] Chr8:27460623 [GRCh38]
Chr8:27318140 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*384G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000261781] Chr8:27461245 [GRCh38]
Chr8:27318762 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.-424C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000359193] Chr8:27479111 [GRCh38]
Chr8:27336628 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.-561A>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000296096] Chr8:27479248 [GRCh38]
Chr8:27336765 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1849A>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000360591] Chr8:27459780 [GRCh38]
Chr8:27317297 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*1384C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000386550] Chr8:27460245 [GRCh38]
Chr8:27317762 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1024_*1026del deletion Sleep-related hypermotor epilepsy [RCV000279586] Chr8:27460603..27460605 [GRCh38]
Chr8:27318120..27318122 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*623G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000315136] Chr8:27461006 [GRCh38]
Chr8:27318523 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1159T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000338226] Chr8:27460470 [GRCh38]
Chr8:27317987 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.-447T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000264368] Chr8:27479134 [GRCh38]
Chr8:27336651 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.-565T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000280714]|not provided [RCV001712551] Chr8:27479252 [GRCh38]
Chr8:27336769 [GRCh37]
Chr8:8p21.2
benign|uncertain significance
NM_000742.4(CHRNA2):c.*285G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000317043]|not provided [RCV001548339] Chr8:27461344 [GRCh38]
Chr8:27318861 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.*755G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000363849] Chr8:27460874 [GRCh38]
Chr8:27318391 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*936C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000340522] Chr8:27460693 [GRCh38]
Chr8:27318210 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000341306]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079388]|Seizure [RCV000720761]|not provided [RCV000733010]|not specified [RCV000438533] Chr8:27461689 [GRCh38]
Chr8:27319206 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000742.4(CHRNA2):c.*1701C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000365839] Chr8:27459928 [GRCh38]
Chr8:27317445 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.*1845A>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000266069] Chr8:27459784 [GRCh38]
Chr8:27317301 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.3(CHRNA2):c.-580_-579dupGT microsatellite Sleep-related hypermotor epilepsy [RCV000301535] Chr8:27479265..27479266 [GRCh38]
Chr8:27336782..27336783 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.-563_-562dupTG microsatellite Sleep-related hypermotor epilepsy [RCV000330017] Chr8:27479248..27479249 [GRCh38]
Chr8:27336765..27336766 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.-582_-579dupGTGT microsatellite Sleep-related hypermotor epilepsy [RCV000340145] Chr8:27479265..27479266 [GRCh38]
Chr8:27336782..27336783 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-563T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000386792]|not provided [RCV001683437] Chr8:27479250 [GRCh38]
Chr8:27336767 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.-562GA[8] microsatellite Sleep-related hypermotor epilepsy [RCV000389425] Chr8:27479235..27479236 [GRCh38]
Chr8:27336752..27336753 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.-584_-579dupGTGTGT microsatellite Sleep-related hypermotor epilepsy [RCV000400528] Chr8:27479265..27479266 [GRCh38]
Chr8:27336782..27336783 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1395C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000276886] Chr8:27460234 [GRCh38]
Chr8:27317751 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.321C>T (p.Thr107=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001486454]|not provided [RCV000293947] Chr8:27469353 [GRCh38]
Chr8:27326870 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.3(CHRNA2):c.-575_-574insAT insertion Sleep-related hypermotor epilepsy [RCV000279395] Chr8:27479261..27479262 [GRCh38]
Chr8:27336778..27336779 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001004727]|not provided [RCV000266134] Chr8:27463506 [GRCh38]
Chr8:27321023 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_000742.4(CHRNA2):c.1431C>G (p.Ala477=) single nucleotide variant not provided [RCV000407472] Chr8:27463012 [GRCh38]
Chr8:27320529 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-136-3C>T single nucleotide variant not specified [RCV000523184] Chr8:27471197 [GRCh38]
Chr8:27328714 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001865503]|Seizure [RCV000717175]|not provided [RCV000487995] Chr8:27463428 [GRCh38]
Chr8:27320945 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*892T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000398475] Chr8:27460737 [GRCh38]
Chr8:27318254 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-78C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000292197] Chr8:27471136 [GRCh38]
Chr8:27328653 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-136-14T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000400983] Chr8:27471208 [GRCh38]
Chr8:27328725 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-471G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000364936] Chr8:27479158 [GRCh38]
Chr8:27336675 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.*1882C>A single nucleotide variant Sleep-related hypermotor epilepsy [RCV000336061] Chr8:27459747 [GRCh38]
Chr8:27317264 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.-133C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000337859] Chr8:27471191 [GRCh38]
Chr8:27328708 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.-578_-573delATGTGT deletion Sleep-related hypermotor epilepsy [RCV000338120]|not provided [RCV001637001] Chr8:27479260..27479265 [GRCh38]
Chr8:27336777..27336782 [GRCh37]
Chr8:8p21.2
benign|uncertain significance
NM_000742.4(CHRNA2):c.-312G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000353253] Chr8:27478999 [GRCh38]
Chr8:27336516 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1873A>G single nucleotide variant Sleep-related hypermotor epilepsy [RCV000391519] Chr8:27459756 [GRCh38]
Chr8:27317273 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.-137+11T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000298407] Chr8:27478813 [GRCh38]
Chr8:27336330 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1096C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000374217] Chr8:27460533 [GRCh38]
Chr8:27318050 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-544C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000325520] Chr8:27479231 [GRCh38]
Chr8:27336748 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.3(CHRNA2):c.-578_-575delATGT deletion Sleep-related hypermotor epilepsy [RCV000341532] Chr8:27479262..27479265 [GRCh38]
Chr8:27336779..27336782 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000289562] Chr8:27463280 [GRCh38]
Chr8:27320797 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1251GGA[3] (p.Glu420del) microsatellite not provided [RCV000592613] Chr8:27463181..27463183 [GRCh38]
Chr8:27320698..27320700 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1354G>A (p.Glu452Lys) single nucleotide variant not provided [RCV000592766] Chr8:27463089 [GRCh38]
Chr8:27320606 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg) single nucleotide variant not provided [RCV000593279] Chr8:27463854 [GRCh38]
Chr8:27321371 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.150G>A (p.Pro50=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001456346]|not provided [RCV000733902] Chr8:27469905 [GRCh38]
Chr8:27327422 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000560379] Chr8:27463458 [GRCh38]
Chr8:27320975 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.294+5G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001853633]|not provided [RCV000522976] Chr8:27469756 [GRCh38]
Chr8:27327273 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=) single nucleotide variant not provided [RCV001698238] Chr8:27463183 [GRCh38]
Chr8:27320700 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1113G>T (p.Leu371=) single nucleotide variant not specified [RCV000445342] Chr8:27463330 [GRCh38]
Chr8:27320847 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1437C>T (p.His479=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000869702]|not specified [RCV000431796] Chr8:27463006 [GRCh38]
Chr8:27320523 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.1464+20G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002062342]|not specified [RCV000435103] Chr8:27462959 [GRCh38]
Chr8:27320476 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001359208]|not provided [RCV000438937] Chr8:27463404 [GRCh38]
Chr8:27320921 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1059C>T (p.His353=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001495677]|not provided [RCV000870234]|not specified [RCV000421550] Chr8:27463384 [GRCh38]
Chr8:27320901 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.225C>A (p.Arg75=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001407687]|Seizure [RCV000716395]|not provided [RCV000476579] Chr8:27469830 [GRCh38]
Chr8:27327347 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000458723]|not specified [RCV000439192] Chr8:27463759 [GRCh38]
Chr8:27321276 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.1158C>T (p.Pro386=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001472372]|not provided [RCV000550007] Chr8:27463285 [GRCh38]
Chr8:27320802 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.12C>T (p.Ser4=) single nucleotide variant not provided [RCV000421978] Chr8:27471047 [GRCh38]
Chr8:27328564 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.150G>T (p.Pro50=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000944129]|not specified [RCV000432471] Chr8:27469905 [GRCh38]
Chr8:27327422 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.449+9C>G single nucleotide variant not specified [RCV000443177] Chr8:27467220 [GRCh38]
Chr8:27324737 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.609C>T (p.Ser203=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000865217]|not specified [RCV000443268] Chr8:27463834 [GRCh38]
Chr8:27321351 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.*8T>C single nucleotide variant not provided [RCV001703538] Chr8:27461621 [GRCh38]
Chr8:27319138 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1100G>A (p.Arg367Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001518636]|not specified [RCV000419586] Chr8:27463343 [GRCh38]
Chr8:27320860 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.246C>T (p.Asp82=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000861518]|not provided [RCV001698244] Chr8:27469809 [GRCh38]
Chr8:27327326 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.294+20G>A single nucleotide variant not specified [RCV000422484] Chr8:27469741 [GRCh38]
Chr8:27327258 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1174C>T (p.Pro392Ser) single nucleotide variant not specified [RCV000425834] Chr8:27463269 [GRCh38]
Chr8:27320786 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.141G>A (p.Thr47=) single nucleotide variant not specified [RCV000433380] Chr8:27469914 [GRCh38]
Chr8:27327431 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001349591]|not specified [RCV000444120] Chr8:27463112 [GRCh38]
Chr8:27320629 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001038713]|not provided [RCV000437020] Chr8:27463574 [GRCh38]
Chr8:27321091 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654360]|Seizure [RCV000720134]|not provided [RCV001697802] Chr8:27463477 [GRCh38]
Chr8:27320994 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.168C>T (p.Thr56=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001406823]|not specified [RCV000420445] Chr8:27469887 [GRCh38]
Chr8:27327404 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654339]|Seizure [RCV000720133]|not provided [RCV001718816] Chr8:27469845 [GRCh38]
Chr8:27327362 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001209159]|Seizure [RCV000416498]|not provided [RCV000482639] Chr8:27469766 [GRCh38]
Chr8:27327283 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462809] Chr8:27463720 [GRCh38]
Chr8:27321237 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001856862]|not provided [RCV000479589] Chr8:27461667 [GRCh38]
Chr8:27319184 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.215G>T (p.Arg72Leu) single nucleotide variant not provided [RCV000479775] Chr8:27469840 [GRCh38]
Chr8:27327357 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654313]|not provided [RCV000479900] Chr8:27469352 [GRCh38]
Chr8:27326869 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1378C>T (p.Leu460=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001434451]|not provided [RCV000467256] Chr8:27463065 [GRCh38]
Chr8:27320582 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.259C>T (p.Arg87Cys) single nucleotide variant not provided [RCV000484176] Chr8:27469796 [GRCh38]
Chr8:27327313 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000459969] Chr8:27463583 [GRCh38]
Chr8:27321100 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val) single nucleotide variant not provided [RCV000480524] Chr8:27463848 [GRCh38]
Chr8:27321365 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001037280]|not provided [RCV000484623] Chr8:27463181 [GRCh38]
Chr8:27320698 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.324C>T (p.Asn108=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002063685]|not provided [RCV000475947] Chr8:27469350 [GRCh38]
Chr8:27326867 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1569G>A (p.Pro523=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001442536]|not provided [RCV000468825] Chr8:27461650 [GRCh38]
Chr8:27319167 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1118G>C (p.Cys373Ser) single nucleotide variant not provided [RCV000486276] Chr8:27463325 [GRCh38]
Chr8:27320842 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001061676]|not provided [RCV000727525] Chr8:27463173 [GRCh38]
Chr8:27320690 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000008.11:g.(?_27469335)_(27471194_?)del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV000476782] Chr8:27469335..27471194 [GRCh38]
Chr8:27326852..27328711 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.294+1G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001856864]|not provided [RCV000486538] Chr8:27469760 [GRCh38]
Chr8:27327277 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001237817]|not provided [RCV000478141] Chr8:27463262 [GRCh38]
Chr8:27320779 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.73G>C (p.Gly25Arg) single nucleotide variant not provided [RCV000478210] Chr8:27470986 [GRCh38]
Chr8:27328503 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser) single nucleotide variant not provided [RCV000478242] Chr8:27467317 [GRCh38]
Chr8:27324834 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001341509]|not provided [RCV000482654] Chr8:27463367 [GRCh38]
Chr8:27320884 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001851224]|Seizure [RCV000720346]|not provided [RCV000483105] Chr8:27467245 [GRCh38]
Chr8:27324762 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000477538] Chr8:27463263 [GRCh38]
Chr8:27320780 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
NM_000742.4(CHRNA2):c.-27C>A single nucleotide variant not provided [RCV000497409] Chr8:27471085 [GRCh38]
Chr8:27328602 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_000742.4(CHRNA2):c.634G>A (p.Asp212Asn) single nucleotide variant not provided [RCV000493036] Chr8:27463809 [GRCh38]
Chr8:27321326 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000541830] Chr8:27469852 [GRCh38]
Chr8:27327369 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1464+7_1464+8del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV000538601] Chr8:27462971..27462972 [GRCh38]
Chr8:27320488..27320489 [GRCh37]
Chr8:8p21.2
likely benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000625720] Chr8:27463554 [GRCh38]
Chr8:27321071 [GRCh37]
Chr8:8p21.2
pathogenic
NM_000742.4(CHRNA2):c.1432G>C (p.Asp478His) single nucleotide variant not provided [RCV000596110] Chr8:27463011 [GRCh38]
Chr8:27320528 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000557224] Chr8:27469948 [GRCh38]
Chr8:27327465 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.339+7G>A single nucleotide variant not specified [RCV000612155] Chr8:27469328 [GRCh38]
Chr8:27326845 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000536600]|not provided [RCV001770488] Chr8:27463413 [GRCh38]
Chr8:27320930 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1575A>G (p.Leu525=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001428173]|not specified [RCV000615699] Chr8:27461644 [GRCh38]
Chr8:27319161 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1368G>A (p.Gln456=) single nucleotide variant not specified [RCV000605755] Chr8:27463075 [GRCh38]
Chr8:27320592 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.228G>A (p.Pro76=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001318740]|not provided [RCV001704721] Chr8:27469827 [GRCh38]
Chr8:27327344 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1464+10G>C single nucleotide variant not specified [RCV000616201] Chr8:27462969 [GRCh38]
Chr8:27320486 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.132C>A (p.Pro44=) single nucleotide variant not specified [RCV000607777] Chr8:27469923 [GRCh38]
Chr8:27327440 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654300] Chr8:27469859 [GRCh38]
Chr8:27327376 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654301] Chr8:27463633 [GRCh38]
Chr8:27321150 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654302] Chr8:27469841 [GRCh38]
Chr8:27327358 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654304] Chr8:27463644 [GRCh38]
Chr8:27321161 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654307]|not provided [RCV000999004] Chr8:27463316 [GRCh38]
Chr8:27320833 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654318] Chr8:27463326 [GRCh38]
Chr8:27320843 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654319] Chr8:27463748 [GRCh38]
Chr8:27321265 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.449+3A>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654325] Chr8:27467226 [GRCh38]
Chr8:27324743 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000764774]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654327] Chr8:27461703 [GRCh38]
Chr8:27319220 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.852G>A (p.Val284=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654335] Chr8:27463591 [GRCh38]
Chr8:27321108 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001209557]|Seizures, benign familial infantile, 6 [RCV000625719]|not provided [RCV001815352] Chr8:27463317 [GRCh38]
Chr8:27320834 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654345]|not provided [RCV001613431] Chr8:27463195 [GRCh38]
Chr8:27320712 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654350] Chr8:27463653 [GRCh38]
Chr8:27321170 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654353] Chr8:27463708 [GRCh38]
Chr8:27321225 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.777C>T (p.Phe259=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002065240]|not specified [RCV000608557] Chr8:27463666 [GRCh38]
Chr8:27321183 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654351]|not provided [RCV000611426] Chr8:27463267 [GRCh38]
Chr8:27320784 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_000742.4(CHRNA2):c.859_862delinsC (p.Phe287_Tyr288delinsHis) indel not provided [RCV000597702] Chr8:27463581..27463584 [GRCh38]
Chr8:27321098..27321101 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1393del (p.His465fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV000798125]|not provided [RCV000657556] Chr8:27463050 [GRCh38]
Chr8:27320567 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1055T>C (p.Val352Ala) single nucleotide variant not provided [RCV000658404] Chr8:27463388 [GRCh38]
Chr8:27320905 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000686100] Chr8:27463011 [GRCh38]
Chr8:27320528 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000767929]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000803841] Chr8:27463025 [GRCh38]
Chr8:27320542 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001488775]|not provided [RCV000711160] Chr8:27463375 [GRCh38]
Chr8:27320892 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV000695191] Chr8:27463952..27463958 [GRCh38]
Chr8:27321469..27321475 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) duplication Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000778857]|Seizure [RCV000716147] Chr8:27463337..27463338 [GRCh38]
Chr8:27320854..27320855 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-2A>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000688557] Chr8:27461756 [GRCh38]
Chr8:27319273 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.516C>A (p.His172Gln) single nucleotide variant Seizure [RCV000717416] Chr8:27463927 [GRCh38]
Chr8:27321444 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699708] Chr8:27463071 [GRCh38]
Chr8:27320588 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000704190] Chr8:27461691 [GRCh38]
Chr8:27319208 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000693581] Chr8:27463065 [GRCh38]
Chr8:27320582 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000694098] Chr8:27461688 [GRCh38]
Chr8:27319205 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701345] Chr8:27463514 [GRCh38]
Chr8:27321031 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.201C>G (p.Phe67Leu) single nucleotide variant Seizure [RCV000720696] Chr8:27469854 [GRCh38]
Chr8:27327371 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001313435]|Seizure [RCV000720211] Chr8:27462980 [GRCh38]
Chr8:27320497 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.381T>C (p.Phe127=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001436291]|Seizure [RCV000718978] Chr8:27467297 [GRCh38]
Chr8:27324814 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.403del (p.Val135fs) deletion Seizure [RCV000720098] Chr8:27467275 [GRCh38]
Chr8:27324792 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000742.4(CHRNA2):c.222G>A (p.Ala74=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000977974] Chr8:27469833 [GRCh38]
Chr8:27327350 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000742.4(CHRNA2):c.1464+260G>A single nucleotide variant not provided [RCV001564294] Chr8:27462719 [GRCh38]
Chr8:27320236 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001866200]|not provided [RCV001586873] Chr8:27463245 [GRCh38]
Chr8:27320762 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001066698] Chr8:27463967 [GRCh38]
Chr8:27321484 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.450-9T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001067116] Chr8:27464002 [GRCh38]
Chr8:27321519 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.936G>C (p.Leu312=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001501289]|not provided [RCV000866918] Chr8:27463507 [GRCh38]
Chr8:27321024 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.276C>T (p.Ile92=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866973] Chr8:27469779 [GRCh38]
Chr8:27327296 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.600G>A (p.Lys200=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001491027]|not provided [RCV000943963] Chr8:27463843 [GRCh38]
Chr8:27321360 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.795G>A (p.Pro265=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000927230] Chr8:27463648 [GRCh38]
Chr8:27321165 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868540] Chr8:27469830 [GRCh38]
Chr8:27327347 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001041371] Chr8:27463518 [GRCh38]
Chr8:27321035 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001037279] Chr8:27471037 [GRCh38]
Chr8:27328554 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001042709]|Intellectual disability [RCV001251718] Chr8:27461651 [GRCh38]
Chr8:27319168 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001060622] Chr8:27463487 [GRCh38]
Chr8:27321004 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000770987]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001855995] Chr8:27463484 [GRCh38]
Chr8:27321001 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000978952] Chr8:27461668 [GRCh38]
Chr8:27319185 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.360G>A (p.Leu120=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001395003]|not provided [RCV000977815] Chr8:27467318 [GRCh38]
Chr8:27324835 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.288C>T (p.Ile96=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001443014]|not provided [RCV000871515] Chr8:27469767 [GRCh38]
Chr8:27327284 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.924C>T (p.Thr308=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001395739]|not provided [RCV000876144] Chr8:27463519 [GRCh38]
Chr8:27321036 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.459G>A (p.Gly153=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001436387]|not provided [RCV000940335] Chr8:27463984 [GRCh38]
Chr8:27321501 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1374T>G (p.Gly458=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001443128]|not provided [RCV000937306] Chr8:27463069 [GRCh38]
Chr8:27320586 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1317C>T (p.His439=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000862400] Chr8:27463126 [GRCh38]
Chr8:27320643 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000797667] Chr8:27463714 [GRCh38]
Chr8:27321231 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000810335] Chr8:27463719 [GRCh38]
Chr8:27321236 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000816028] Chr8:27463906 [GRCh38]
Chr8:27321423 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000801169] Chr8:27463900 [GRCh38]
Chr8:27321417 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000814342] Chr8:27463676 [GRCh38]
Chr8:27321193 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000814566] Chr8:27463756 [GRCh38]
Chr8:27321273 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-21T>C single nucleotide variant not provided [RCV000830017] Chr8:27461775 [GRCh38]
Chr8:27319292 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000811257] Chr8:27469964 [GRCh38]
Chr8:27327481 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000800246] Chr8:27463002 [GRCh38]
Chr8:27320519 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000815217] Chr8:27461738 [GRCh38]
Chr8:27319255 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-136-189G>C single nucleotide variant not provided [RCV000836886] Chr8:27471383 [GRCh38]
Chr8:27328900 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.74-343G>C single nucleotide variant not provided [RCV000826865] Chr8:27470324 [GRCh38]
Chr8:27327841 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000796508] Chr8:27469349 [GRCh38]
Chr8:27326866 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000815443] Chr8:27463521 [GRCh38]
Chr8:27321038 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.340-336C>A single nucleotide variant not provided [RCV000827768] Chr8:27467674 [GRCh38]
Chr8:27325191 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.294+28G>A single nucleotide variant not provided [RCV000833792] Chr8:27469733 [GRCh38]
Chr8:27327250 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.73+149C>G single nucleotide variant not provided [RCV000838778] Chr8:27470837 [GRCh38]
Chr8:27328354 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.450-156A>G single nucleotide variant not provided [RCV000841557] Chr8:27464149 [GRCh38]
Chr8:27321666 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000804390] Chr8:27463299 [GRCh38]
Chr8:27320816 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000808469] Chr8:27463850 [GRCh38]
Chr8:27321367 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.525C>T (p.Pro175=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001465765]|not provided [RCV000840145] Chr8:27463918 [GRCh38]
Chr8:27321435 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.450-29G>A single nucleotide variant not provided [RCV000832808] Chr8:27464022 [GRCh38]
Chr8:27321539 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.74-341C>A single nucleotide variant not provided [RCV000827766] Chr8:27470322 [GRCh38]
Chr8:27327839 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.449+317A>G single nucleotide variant not provided [RCV000827772] Chr8:27466912 [GRCh38]
Chr8:27324429 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.450-87C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001579078]|not provided [RCV000829919] Chr8:27464080 [GRCh38]
Chr8:27321597 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000812400] Chr8:27469894 [GRCh38]
Chr8:27327411 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000796102] Chr8:27463537 [GRCh38]
Chr8:27321054 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001270896]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000794562] Chr8:27463089 [GRCh38]
Chr8:27320606 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.74-346C>T single nucleotide variant not provided [RCV000833305] Chr8:27470327 [GRCh38]
Chr8:27327844 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000796229]|not provided [RCV001766640] Chr8:27469840 [GRCh38]
Chr8:27327357 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000811419] Chr8:27463373 [GRCh38]
Chr8:27320890 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000792378] Chr8:27463406 [GRCh38]
Chr8:27320923 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001079094]|not provided [RCV000839223] Chr8:27463744 [GRCh38]
Chr8:27321261 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.73+236G>A single nucleotide variant not provided [RCV000839607] Chr8:27470750 [GRCh38]
Chr8:27328267 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.449+231A>G single nucleotide variant not provided [RCV000839608] Chr8:27466998 [GRCh38]
Chr8:27324515 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001046276] Chr8:27463425 [GRCh38]
Chr8:27320942 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001164752]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002032511] Chr8:27463125 [GRCh38]
Chr8:27320642 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV000999007] Chr8:27469886 [GRCh38]
Chr8:27327403 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001043966]|not provided [RCV001824404] Chr8:27463298 [GRCh38]
Chr8:27320815 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1707C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162587] Chr8:27459922 [GRCh38]
Chr8:27317439 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001203183] Chr8:27463017 [GRCh38]
Chr8:27320534 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*196G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162692] Chr8:27461433 [GRCh38]
Chr8:27318950 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*159G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162693] Chr8:27461470 [GRCh38]
Chr8:27318987 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*133G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162694] Chr8:27461496 [GRCh38]
Chr8:27319013 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001208620]|Seizure [RCV001263318] Chr8:27463380 [GRCh38]
Chr8:27320897 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000742.4(CHRNA2):c.73+4A>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001241183] Chr8:27470982 [GRCh38]
Chr8:27328499 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1002C>T (p.Phe334=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001465274]|not provided [RCV000999005] Chr8:27463441 [GRCh38]
Chr8:27320958 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.*1090C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159730] Chr8:27460539 [GRCh38]
Chr8:27318056 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001211601] Chr8:27463755 [GRCh38]
Chr8:27321272 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1769C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161007] Chr8:27459860 [GRCh38]
Chr8:27317377 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.294+100C>T single nucleotide variant not provided [RCV001549878] Chr8:27469661 [GRCh38]
Chr8:27327178 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1464+153_1464+160del deletion not provided [RCV001574614] Chr8:27462819..27462826 [GRCh38]
Chr8:27320336..27320343 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1465-290C>T single nucleotide variant not provided [RCV001556371] Chr8:27462044 [GRCh38]
Chr8:27319561 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1465-45T>A single nucleotide variant not provided [RCV001561507] Chr8:27461799 [GRCh38]
Chr8:27319316 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val) single nucleotide variant not provided [RCV001577807] Chr8:27463608 [GRCh38]
Chr8:27321125 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-299G>A single nucleotide variant not provided [RCV001563333] Chr8:27462053 [GRCh38]
Chr8:27319570 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.74-207T>C single nucleotide variant not provided [RCV001587475] Chr8:27470188 [GRCh38]
Chr8:27327705 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.294+116T>C single nucleotide variant not provided [RCV001566942] Chr8:27469645 [GRCh38]
Chr8:27327162 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1245G>C (p.Val415=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001469342]|not provided [RCV000941433] Chr8:27463198 [GRCh38]
Chr8:27320715 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1410G>A (p.Leu470=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000923206] Chr8:27463033 [GRCh38]
Chr8:27320550 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1194C>T (p.Ser398=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001468830]|not provided [RCV000879308] Chr8:27463249 [GRCh38]
Chr8:27320766 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.339+8C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001502839]|not provided [RCV000975623] Chr8:27469327 [GRCh38]
Chr8:27326844 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.759C>T (p.Pro253=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000954006] Chr8:27463684 [GRCh38]
Chr8:27321201 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs) indel Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244362]|Seizure [RCV001256099] Chr8:27463814..27463836 [GRCh38]
Chr8:27321331..27321353 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001236296] Chr8:27463319 [GRCh38]
Chr8:27320836 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1688G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162589] Chr8:27459941 [GRCh38]
Chr8:27317458 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162790] Chr8:27467274 [GRCh38]
Chr8:27324791 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001222903] Chr8:27461718 [GRCh38]
Chr8:27319235 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1464+4C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001164751] Chr8:27462975 [GRCh38]
Chr8:27320492 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159830] Chr8:27463340 [GRCh38]
Chr8:27320857 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001219524] Chr8:27463676 [GRCh38]
Chr8:27321193 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.472A>G (p.Thr158Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001205709] Chr8:27463971 [GRCh38]
Chr8:27321488 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001224109] Chr8:27467293 [GRCh38]
Chr8:27324810 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1159G>A (p.Val387Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001047695] Chr8:27463284 [GRCh38]
Chr8:27320801 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218279] Chr8:27463028 [GRCh38]
Chr8:27320545 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000984923]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001204148] Chr8:27462983 [GRCh38]
Chr8:27320500 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.568T>C (p.Phe190Leu) single nucleotide variant not provided [RCV000999006] Chr8:27463875 [GRCh38]
Chr8:27321392 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001066052] Chr8:27463091 [GRCh38]
Chr8:27320608 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.-136-19C>T single nucleotide variant not provided [RCV001718439] Chr8:27471213 [GRCh38]
Chr8:27328730 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
NM_000742.4(CHRNA2):c.*1603C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162591] Chr8:27460026 [GRCh38]
Chr8:27317543 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*348C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162691] Chr8:27461281 [GRCh38]
Chr8:27318798 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1752G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162586] Chr8:27459877 [GRCh38]
Chr8:27317394 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001035969] Chr8:27467247 [GRCh38]
Chr8:27324764 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159832] Chr8:27463443 [GRCh38]
Chr8:27320960 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*662T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161131] Chr8:27460967 [GRCh38]
Chr8:27318484 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001591741] Chr8:27463536 [GRCh38]
Chr8:27321053 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001069723] Chr8:27469871 [GRCh38]
Chr8:27327388 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001072020] Chr8:27463380 [GRCh38]
Chr8:27320897 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.122T>C (p.Leu41Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001070100] Chr8:27469933 [GRCh38]
Chr8:27327450 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001049200] Chr8:27463168 [GRCh38]
Chr8:27320685 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.223C>T (p.Arg75Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218765] Chr8:27469832 [GRCh38]
Chr8:27327349 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001056418] Chr8:27463903 [GRCh38]
Chr8:27321420 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001306424]|not provided [RCV001091590] Chr8:27463656 [GRCh38]
Chr8:27321173 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001234180] Chr8:27463292 [GRCh38]
Chr8:27320809 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001206105] Chr8:27461678 [GRCh38]
Chr8:27319195 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001236526] Chr8:27463065 [GRCh38]
Chr8:27320582 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001064374] Chr8:27463203 [GRCh38]
Chr8:27320720 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001064669] Chr8:27469955 [GRCh38]
Chr8:27327472 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.149C>G (p.Pro50Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001051016] Chr8:27469906 [GRCh38]
Chr8:27327423 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001159833] Chr8:27463486 [GRCh38]
Chr8:27321003 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001907546] Chr8:27463398 [GRCh38]
Chr8:27320915 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1265T>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001164649] Chr8:27460364 [GRCh38]
Chr8:27317881 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1117G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001164650] Chr8:27460512 [GRCh38]
Chr8:27318029 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001055685] Chr8:27469891 [GRCh38]
Chr8:27327408 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.346A>G (p.Ser116Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230812] Chr8:27467332 [GRCh38]
Chr8:27324849 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1775C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161006] Chr8:27459854 [GRCh38]
Chr8:27317371 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161236] Chr8:27463943 [GRCh38]
Chr8:27321460 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001161238] Chr8:27467248 [GRCh38]
Chr8:27324765 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001819753]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001042247] Chr8:27463560 [GRCh38]
Chr8:27321077 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001197539] Chr8:27463453..27463456 [GRCh38]
Chr8:27320970..27320973 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001197603]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001863114] Chr8:27463291 [GRCh38]
Chr8:27320808 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-3C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001063436] Chr8:27461757 [GRCh38]
Chr8:27319274 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.*1707C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162588] Chr8:27459922 [GRCh38]
Chr8:27317439 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.*1667G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV001162590] Chr8:27459962 [GRCh38]
Chr8:27317479 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001063858] Chr8:27463188 [GRCh38]
Chr8:27320705 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.10:g.(?_27319126)_(27328595_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV001295082] Chr8:27319126..27328595 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000742.4(CHRNA2):c.784del (p.Arg262fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001327221] Chr8:27463659 [GRCh38]
Chr8:27321176 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.874G>A (p.Asp292Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001327224] Chr8:27463569 [GRCh38]
Chr8:27321086 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.116A>G (p.Asp39Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001319750] Chr8:27469939 [GRCh38]
Chr8:27327456 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001318190] Chr8:27469828 [GRCh38]
Chr8:27327345 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-7G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001315943] Chr8:27469386 [GRCh38]
Chr8:27326903 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001339989] Chr8:27467316 [GRCh38]
Chr8:27324833 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001303032] Chr8:27461751 [GRCh38]
Chr8:27319268 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001350326] Chr8:27463391 [GRCh38]
Chr8:27320908 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001317273] Chr8:27463170 [GRCh38]
Chr8:27320687 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_000742.4(CHRNA2):c.294+4C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001358821] Chr8:27469757 [GRCh38]
Chr8:27327274 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1200T>G (p.Ser400=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001396565] Chr8:27463243 [GRCh38]
Chr8:27320760 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.646A>G (p.Met216Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001433906] Chr8:27463797 [GRCh38]
Chr8:27321314 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001360006] Chr8:27467284 [GRCh38]
Chr8:27324801 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001304378] Chr8:27463221 [GRCh38]
Chr8:27320738 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001359660] Chr8:27469877 [GRCh38]
Chr8:27327394 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.10:g.(?_27326832)_(27328595_?)del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001373941] Chr8:27326832..27328595 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001364841] Chr8:27463495 [GRCh38]
Chr8:27321012 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001324058] Chr8:27469820 [GRCh38]
Chr8:27327337 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1173C>A (p.His391Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001306757] Chr8:27463270 [GRCh38]
Chr8:27320787 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.526C>T (p.Pro176Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001321955] Chr8:27463917 [GRCh38]
Chr8:27321434 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001324315] Chr8:27463166 [GRCh38]
Chr8:27320683 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001302185] Chr8:27463160 [GRCh38]
Chr8:27320677 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001323362] Chr8:27463916 [GRCh38]
Chr8:27321433 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1364T>C (p.Leu455Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001317897] Chr8:27463079 [GRCh38]
Chr8:27320596 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001340032] Chr8:27463348 [GRCh38]
Chr8:27320865 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001322488] Chr8:27471003 [GRCh38]
Chr8:27328520 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.203G>T (p.Arg68Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001315177] Chr8:27469852 [GRCh38]
Chr8:27327369 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001295042] Chr8:27469846 [GRCh38]
Chr8:27327363 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1202A>G (p.Tyr401Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001348024] Chr8:27463241 [GRCh38]
Chr8:27320758 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001295750]|not provided [RCV001507728] Chr8:27463916 [GRCh38]
Chr8:27321433 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001308972]|not provided [RCV001547575] Chr8:27463961 [GRCh38]
Chr8:27321478 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser) indel Autosomal dominant nocturnal frontal lobe epilepsy [RCV001366495] Chr8:27461655..27461656 [GRCh38]
Chr8:27319172..27319173 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.717C>T (p.Thr239=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001413758] Chr8:27463726 [GRCh38]
Chr8:27321243 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001351931] Chr8:27469949 [GRCh38]
Chr8:27327466 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.340-8A>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001396036] Chr8:27467346 [GRCh38]
Chr8:27324863 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001327370] Chr8:27461675 [GRCh38]
Chr8:27319192 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.918A>T (p.Ser306=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001421143] Chr8:27463525 [GRCh38]
Chr8:27321042 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001315905] Chr8:27463703 [GRCh38]
Chr8:27321220 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1188G>A (p.Lys396=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001469632] Chr8:27463255 [GRCh38]
Chr8:27320772 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001399080] Chr8:27463339 [GRCh38]
Chr8:27320856 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1365G>A (p.Leu455=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001468313] Chr8:27463078 [GRCh38]
Chr8:27320595 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.198C>T (p.Leu66=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001475242] Chr8:27469857 [GRCh38]
Chr8:27327374 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1557C>A (p.Leu519=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001458499] Chr8:27461662 [GRCh38]
Chr8:27319179 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1515C>T (p.Leu505=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001487798] Chr8:27461704 [GRCh38]
Chr8:27319221 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1098G>A (p.Val366=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001491040] Chr8:27463345 [GRCh38]
Chr8:27320862 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.368A>G (p.Asn123Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001423393] Chr8:27467310 [GRCh38]
Chr8:27324827 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1330T>C (p.Ser444Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001468263] Chr8:27463113 [GRCh38]
Chr8:27320630 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.429C>T (p.Pro143=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001477852] Chr8:27467249 [GRCh38]
Chr8:27324766 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1401G>A (p.Gln467=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001456546] Chr8:27463042 [GRCh38]
Chr8:27320559 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1164G>A (p.Glu388=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001506368] Chr8:27463279 [GRCh38]
Chr8:27320796 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.606C>T (p.Gly202=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001488731] Chr8:27463837 [GRCh38]
Chr8:27321354 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.834C>T (p.Leu278=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001497912] Chr8:27463609 [GRCh38]
Chr8:27321126 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.900C>T (p.Cys300=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001447307] Chr8:27463543 [GRCh38]
Chr8:27321060 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1245G>A (p.Val415=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001408283] Chr8:27463198 [GRCh38]
Chr8:27320715 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1206C>T (p.His402=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001447705] Chr8:27463237 [GRCh38]
Chr8:27320754 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.348C>T (p.Ser116=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001401977] Chr8:27467330 [GRCh38]
Chr8:27324847 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1464+10G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001467708] Chr8:27462969 [GRCh38]
Chr8:27320486 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1257G>A (p.Glu419=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001478978] Chr8:27463186 [GRCh38]
Chr8:27320703 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.450-295A>G single nucleotide variant not provided [RCV001693766] Chr8:27464288 [GRCh38]
Chr8:27321805 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.339+13del deletion not provided [RCV001695868] Chr8:27469322 [GRCh38]
Chr8:27326839 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.1473G>A (p.Glu491=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001483517] Chr8:27461746 [GRCh38]
Chr8:27319263 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.504G>C (p.Thr168=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001452684] Chr8:27463939 [GRCh38]
Chr8:27321456 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.-132G>A single nucleotide variant not provided [RCV001710687] Chr8:27471190 [GRCh38]
Chr8:27328707 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.-137+99G>A single nucleotide variant not provided [RCV001714681] Chr8:27478725 [GRCh38]
Chr8:27336242 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.621C>T (p.Asp207=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001468648] Chr8:27463822 [GRCh38]
Chr8:27321339 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1038C>T (p.Thr346=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001475988] Chr8:27463405 [GRCh38]
Chr8:27320922 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.288C>A (p.Ile96=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001467383] Chr8:27469767 [GRCh38]
Chr8:27327284 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.865C>T (p.Leu289=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001467729] Chr8:27463578 [GRCh38]
Chr8:27321095 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1431C>T (p.Ala477=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001425547]|not provided [RCV001675991] Chr8:27463012 [GRCh38]
Chr8:27320529 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1340C>T (p.Ser447Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001393935] Chr8:27463103 [GRCh38]
Chr8:27320620 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1293dup (p.Ser432fs) duplication not provided [RCV001727440] Chr8:27463149..27463150 [GRCh38]
Chr8:27320666..27320667 [GRCh37]
Chr8:8p21.2
likely pathogenic
NM_000742.4(CHRNA2):c.1294T>G (p.Ser432Ala) single nucleotide variant not provided [RCV001727441] Chr8:27463149 [GRCh38]
Chr8:27320666 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1299_1311dup (p.Ser438fs) duplication not provided [RCV001727439] Chr8:27463131..27463132 [GRCh38]
Chr8:27320648..27320649 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.450-2A>C single nucleotide variant not provided [RCV001769378] Chr8:27463995 [GRCh38]
Chr8:27321512 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002074022]|not provided [RCV001773046] Chr8:27463058 [GRCh38]
Chr8:27320575 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1444T>C (p.Ser482Pro) single nucleotide variant not provided [RCV001771456] Chr8:27462999 [GRCh38]
Chr8:27320516 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.320C>G (p.Thr107Ser) single nucleotide variant not provided [RCV001771514] Chr8:27469354 [GRCh38]
Chr8:27326871 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser) single nucleotide variant not provided [RCV001771549] Chr8:27469369 [GRCh38]
Chr8:27326886 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu) single nucleotide variant not provided [RCV001773244] Chr8:27463538 [GRCh38]
Chr8:27321055 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.993C>G (p.Tyr331Ter) single nucleotide variant not provided [RCV001797464] Chr8:27463450 [GRCh38]
Chr8:27320967 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001969445] Chr8:27462996 [GRCh38]
Chr8:27320513 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002039312] Chr8:27463177 [GRCh38]
Chr8:27320694 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.82G>C (p.Glu28Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001983254] Chr8:27469973 [GRCh38]
Chr8:27327490 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.247G>A (p.Val83Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002042068] Chr8:27469808 [GRCh38]
Chr8:27327325 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002023193] Chr8:27467261 [GRCh38]
Chr8:27324778 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001891759] Chr8:27463563 [GRCh38]
Chr8:27321080 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002003597] Chr8:27469816 [GRCh38]
Chr8:27327333 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1007T>C (p.Met336Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001965301] Chr8:27463436 [GRCh38]
Chr8:27320953 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001969523] Chr8:27469862 [GRCh38]
Chr8:27327379 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001890054] Chr8:27463894 [GRCh38]
Chr8:27321411 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.10:g.(?_27319146)_(28608383_?)dup duplication not provided [RCV002043387] Chr8:27319146..28608383 [GRCh37]
Chr8:8p21.2-21.1
uncertain significance
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001909186] Chr8:27463859 [GRCh38]
Chr8:27321376 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001967568] Chr8:27463691 [GRCh38]
Chr8:27321208 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-18T>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001892429] Chr8:27469397 [GRCh38]
Chr8:27326914 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001966241] Chr8:27463424 [GRCh38]
Chr8:27320941 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1174C>G (p.Pro392Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002031419] Chr8:27463269 [GRCh38]
Chr8:27320786 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001977287] Chr8:27469918 [GRCh38]
Chr8:27327435 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001898506] Chr8:27461636 [GRCh38]
Chr8:27319153 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.700G>A (p.Val234Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001999571] Chr8:27463743 [GRCh38]
Chr8:27321260 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001999572] Chr8:27463050 [GRCh38]
Chr8:27320567 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002037987] Chr8:27463788 [GRCh38]
Chr8:27321305 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001998463] Chr8:27463866 [GRCh38]
Chr8:27321383 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.615T>G (p.Thr205=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001903025] Chr8:27463828 [GRCh38]
Chr8:27321345 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001975443] Chr8:27461664 [GRCh38]
Chr8:27319181 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001953211] Chr8:27467235 [GRCh38]
Chr8:27324752 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001936508] Chr8:27463212 [GRCh38]
Chr8:27320729 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002012552] Chr8:27463634 [GRCh38]
Chr8:27321151 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002030453] Chr8:27463864 [GRCh38]
Chr8:27321381 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-1G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002010234] Chr8:27461755 [GRCh38]
Chr8:27319272 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.763del (p.Val255fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV002026993] Chr8:27463680 [GRCh38]
Chr8:27321197 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-6G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001940928] Chr8:27469385 [GRCh38]
Chr8:27326902 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001923398] Chr8:27463928 [GRCh38]
Chr8:27321445 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1240G>A (p.Glu414Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001940512] Chr8:27463203 [GRCh38]
Chr8:27320720 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002016728] Chr8:27463790 [GRCh38]
Chr8:27321307 [GRCh37]
Chr8:8p21.2
uncertain significance