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:1956
Description: Enables acetylcholine receptor activity and acetylcholine-gated monoatomic cation-selective channel activity. Involved in 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 and benign familial infantile seizures 6.
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 Orthologs
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.p14 Ensembl827,459,756 - 27,479,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,317,273 - 27,336,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,373,195 - 27,392,730 (-)NCBINCBI36Build 36hg18NCBI36
Build 34827,374,181 - 27,392,675NCBI
Celera826,277,396 - 26,296,925 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef825,862,340 - 25,881,872 (-)NCBIHuRef
CHM1_1827,519,147 - 27,538,678 (-)NCBICHM1_1
T2T-CHM13v2.0827,737,110 - 27,756,814 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,1-dimethyl-4-phenylpiperazinium iodide  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (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)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
atrazine  (EXP)
Azoxymethane  (ISO)
barium(0)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bexarotene  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (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)
D-glucose  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
dihydro-beta-erythroidine  (ISO)
diquat  (ISO)
epibatidine  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fructose  (ISO)
glucose  (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)
perfluorooctane-1-sulfonic acid  (ISO)
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)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
tubocurarine  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mammalian nicotinic acetylcholine receptors: from structure to function. Albuquerque EX, etal., Physiol Rev. 2009 Jan;89(1):73-120. doi: 10.1152/physrev.00015.2008.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Nicotinic cholinergic receptors in the rat retina: simple and mixed heteromeric subtypes. Marritt AM, etal., Mol Pharmacol. 2005 Dec;68(6):1656-68. Epub 2005 Aug 29.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. The comparative pharmacology and up-regulation of rat neuronal nicotinic receptor subtype binding sites stably expressed in transfected mammalian cells. Xiao Y and Kellar KJ, J Pharmacol Exp Ther. 2004 Jul;310(1):98-107. Epub 2004 Mar 11.
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.p14 Ensembl827,459,756 - 27,479,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,317,273 - 27,336,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,373,195 - 27,392,730 (-)NCBINCBI36Build 36hg18NCBI36
Build 34827,374,181 - 27,392,675NCBI
Celera826,277,396 - 26,296,925 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef825,862,340 - 25,881,872 (-)NCBIHuRef
CHM1_1827,519,147 - 27,538,678 (-)NCBICHM1_1
T2T-CHM13v2.0827,737,110 - 27,756,814 (-)NCBIT2T-CHM13v2.0
Chrna2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,370,685 - 66,390,397 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1466,372,488 - 66,390,397 (+)EnsemblGRCm39 Ensembl
GRCm381466,133,236 - 66,152,948 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1466,135,039 - 66,152,948 (+)EnsemblGRCm38mm10GRCm38
MGSCv371466,759,797 - 66,771,785 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361465,095,070 - 65,107,058 (+)NCBIMGSCv36mm8
Celera1463,889,359 - 63,901,395 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Chrna2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81544,517,862 - 44,534,144 (+)NCBIGRCr8
mRatBN7.21540,342,317 - 40,358,601 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1540,342,317 - 40,358,601 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1542,209,601 - 42,225,892 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01543,359,798 - 43,376,089 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01541,802,620 - 41,818,906 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2745,990,058 - 46,009,764 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1821,704,317 - 21,723,990 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0826,729,767 - 26,749,277 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1823,932,846 - 23,952,377 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl823,932,846 - 23,952,377 (-)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02530,316,301 - 30,326,148 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2530,307,340 - 30,325,726 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12530,245,712 - 30,257,580 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02530,126,596 - 30,137,323 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02530,292,990 - 30,304,860 (+)NCBIUU_Cfam_GSD_1.0
Chrna2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049438,251,532 - 8,258,650 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936675327,501 - 334,581 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936675327,501 - 334,493 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,195,228 - 11,207,650 (-)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 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl825,571,863 - 25,591,788 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605216,552,356 - 16,572,243 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrna2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475822,182,951 - 22,200,063 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475822,182,468 - 22,200,076 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRNA2
694 total Variants

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
likely benign|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]|Inborn genetic diseases [RCV002527938] 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]|Inborn genetic diseases [RCV002362745]|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]|Inborn genetic diseases [RCV002312063]|not provided [RCV004712039]|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]|Inborn genetic diseases [RCV002312064]|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]|Inborn genetic diseases [RCV002312065]|not provided [RCV004712040]|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]|Inborn genetic diseases [RCV002312066]|not provided [RCV004712041]|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]|Inborn genetic diseases [RCV002312067]|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]|Inborn genetic diseases [RCV002312068]|not provided [RCV004712042]|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]|Inborn genetic diseases [RCV002316346]|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]|Inborn genetic diseases [RCV002371959]|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]|CHRNA2-related disorder [RCV003905194]|Inborn genetic diseases [RCV002312821]|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]|Inborn genetic diseases [RCV002341728] 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]|Inborn genetic diseases [RCV002316961]|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 4 [RCV003485549]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001080185]|Inborn genetic diseases [RCV002314647]|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]|Inborn genetic diseases [RCV003165370]|not provided [RCV000177088] Chr8:27469828 [GRCh38]
Chr8:27327345 [GRCh37]
Chr8:8p21.2
likely benign|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]|not specified [RCV004594026] 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]|Inborn genetic diseases [RCV002317073]|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]|CHRNA2-related disorder [RCV003937658]|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]|CHRNA2-related disorder [RCV003967466]|Inborn genetic diseases [RCV002381622]|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]|CHRNA2-related disorder [RCV003937659]|Inborn genetic diseases [RCV002314691]|not provided [RCV003430733]|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]|Inborn genetic diseases [RCV002516979]|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]|CHRNA2-related disorder [RCV003416114]|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 4 [RCV003485552]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001351596]|Inborn genetic diseases [RCV002336492]|not provided [RCV000186864]|not specified [RCV004700569] Chr8:27463940 [GRCh38]
Chr8:27321457 [GRCh37]
Chr8:8p21.2
likely benign|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]|CHRNA2-related disorder [RCV003947563]|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]|CHRNA2-related disorder [RCV003947564]|Inborn genetic diseases [RCV004020262]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002513981]|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]|Inborn genetic diseases [RCV002517843]|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
likely benign|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746502]|not specified [RCV000186856] Chr8:27469998 [GRCh38]
Chr8:27327515 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002042803]|Inborn genetic diseases [RCV004612095] 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]|not specified [RCV003488442] Chr8:27463914 [GRCh38]
Chr8:27321431 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003765163]|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]|Inborn genetic diseases [RCV002426900]|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
likely benign|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]|Inborn genetic diseases [RCV002516980]|not provided [RCV000186881] Chr8:27462979 [GRCh38]
Chr8:27320496 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002516981]|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]|CHRNA2-related disorder [RCV003947565]|not provided [RCV000186884] Chr8:27469934 [GRCh38]
Chr8:27327451 [GRCh37]
Chr8:8p21.2
likely benign|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003765164]|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 Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV003147391]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003765165]|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]|Inborn genetic diseases [RCV003243007]|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]|Inborn genetic diseases [RCV002317070]|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]|Inborn genetic diseases [RCV002390487]|not provided [RCV000727343] Chr8:27469915 [GRCh38]
Chr8:27327432 [GRCh37]
Chr8:8p21.2
benign|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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654298]|Inborn genetic diseases [RCV002317071]|not provided [RCV001704971] Chr8:27469873 [GRCh38]
Chr8:27327390 [GRCh37]
Chr8:8p21.2
likely benign|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.202C>T (p.Arg68Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV000291878]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001373739]|CHRNA2-related disorder [RCV003955121]|Inborn genetic diseases [RCV002317072]|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]|CHRNA2-related disorder [RCV003977492]|Inborn genetic diseases [RCV002317074]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583152]|not provided [RCV000186895] Chr8:27467276 [GRCh38]
Chr8:27324793 [GRCh37]
Chr8:8p21.2
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]|Inborn genetic diseases [RCV002415801]|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]|Inborn genetic diseases [RCV002426901] 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]|Inborn genetic diseases [RCV002402002]|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 4 [RCV002265862]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000697757]|Inborn genetic diseases [RCV002388281]|not provided [RCV002291690] 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]|Inborn genetic diseases [RCV002446619]|not provided [RCV000486437]|not specified [RCV004800395] 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]|not provided [RCV004712564] 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]|not provided [RCV004712570] 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]|not provided [RCV004712569] 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]|not provided [RCV004712572] 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]|Inborn genetic diseases [RCV002314085]|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]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002523673] Chr8:27469852 [GRCh38]
Chr8:27327369 [GRCh37]
Chr8:8p21.2
likely benign|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]|not provided [RCV002255376] 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]|not provided [RCV004712571] 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.-601_-600TG[10] microsatellite Sleep-related hypermotor epilepsy [RCV000309888]|not provided [RCV004696068] 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]|not provided [RCV004712573] 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]|not provided [RCV003437138] 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]|not provided [RCV004712566] 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]|not provided [RCV004712567] 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]|not provided [RCV004712568] 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]|Inborn genetic diseases [RCV002317860]|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]|not provided [RCV004712565] 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.-601_-600TG[12] microsatellite Sleep-related hypermotor epilepsy [RCV000301535]|not provided [RCV004696066] 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.-601_-600TG[13] 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]|not provided [RCV003437139] Chr8:27479235..27479236 [GRCh38]
Chr8:27336752..27336753 [GRCh37]
Chr8:8p21.2
benign|uncertain significance
NM_000742.3(CHRNA2):c.-601_-600TG[14] microsatellite Sleep-related hypermotor epilepsy [RCV000400528]|not provided [RCV004696067] 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.-576_-575insTA 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.685G>A (p.Gly229Ser) single nucleotide variant not provided [RCV002281227] Chr8:27463758 [GRCh38]
Chr8:27321275 [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]|Inborn genetic diseases [RCV002313262]|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.-581_-578delTGTA deletion Sleep-related hypermotor epilepsy [RCV000341532]|not provided [RCV002292542] Chr8:27479262..27479265 [GRCh38]
Chr8:27336779..27336782 [GRCh37]
Chr8:8p21.2
benign|likely benign|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746550]|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]|not provided [RCV004691917] 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 4 [RCV002497018]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002525401]|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]|CHRNA2-related disorder [RCV003972571]|Inborn genetic diseases [RCV002392950]|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]|Inborn genetic diseases [RCV002411289]|not provided [RCV004546490]|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]|Inborn genetic diseases [RCV002311475]|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]|Inborn genetic diseases [RCV002365466]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003114553]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746517]|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]|Inborn genetic diseases [RCV002356595]|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]|CHRNA2-related disorder [RCV003970224]|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]|Inborn genetic diseases [RCV002446722]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002521715]|not specified [RCV000425834] Chr8:27463269 [GRCh38]
Chr8:27320786 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
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 4 [RCV002488973]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001038713]|Inborn genetic diseases [RCV002522663]|not provided [RCV000437020] Chr8:27463574 [GRCh38]
Chr8:27321091 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654360]|CHRNA2-related disorder [RCV003902548]|Inborn genetic diseases [RCV002318444]|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]|CHRNA2-related disorder [RCV003912611]|Inborn genetic diseases [RCV002318380]|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
likely benign|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
likely benign|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] 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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746524]|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] 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] 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]|Inborn genetic diseases [RCV004023153]|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 4 [RCV003144283]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002526616]|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]|Inborn genetic diseases [RCV002318578]|not provided [RCV000483105] Chr8:27467245 [GRCh38]
Chr8:27324762 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|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]|not provided [RCV004772994] Chr8:27469948 [GRCh38]
Chr8:27327465 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.339+7G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002531157]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002529437]|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]|CHRNA2-related disorder [RCV003900369]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002532784]|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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV002493056]|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]|Inborn genetic diseases [RCV002440383]|not specified [RCV003488769] Chr8:27463326 [GRCh38]
Chr8:27320843 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|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]|Inborn genetic diseases [RCV003243242] 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|likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654345]|Inborn genetic diseases [RCV002388155]|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]|not provided [RCV003437389] 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 4 [RCV002493067]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV000798125]|not provided [RCV000657556] Chr8:27463050 [GRCh38]
Chr8:27320567 [GRCh37]
Chr8:8p21.2
likely benign|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]|not provided [RCV003437393] Chr8:27463011 [GRCh38]
Chr8:27320528 [GRCh37]
Chr8:8p21.2
benign|likely benign|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]|Inborn genetic diseases [RCV002388386] Chr8:27463025 [GRCh38]
Chr8:27320542 [GRCh37]
Chr8:8p21.2
likely benign|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]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003768122]|Inborn genetic diseases [RCV002312461] 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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002533014]|Inborn genetic diseases [RCV002314534] Chr8:27463927 [GRCh38]
Chr8:27321444 [GRCh37]
Chr8:8p21.2
likely benign|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]|not provided [RCV003222104] 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 Inborn genetic diseases [RCV002318273] 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]|Inborn genetic diseases [RCV002317569]|not provided [RCV004569411] Chr8:27462980 [GRCh38]
Chr8:27320497 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_000742.4(CHRNA2):c.381T>C (p.Phe127=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001436291]|Inborn genetic diseases [RCV002318616] Chr8:27467297 [GRCh38]
Chr8:27324814 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.403del (p.Val135fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV002534973]|Inborn genetic diseases [RCV002317526] 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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.936G>C (p.Leu312=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001501289] 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] 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]|Inborn genetic diseases [RCV002442834]|not provided [RCV003438519] 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
likely benign|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]|not provided [RCV003223675] Chr8:27463484 [GRCh38]
Chr8:27321001 [GRCh37]
Chr8:8p21.2
likely pathogenic|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] 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]|Inborn genetic diseases [RCV002434120] 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] 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] 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 specified [RCV004782606] 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]|Inborn genetic diseases [RCV002370175]|not specified [RCV003387934] 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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1465-21T>C single nucleotide variant not provided [RCV000830017]|not specified [RCV004594166] 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 4 [RCV002495123]|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]|Inborn genetic diseases [RCV002388476] 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
likely benign|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
benign|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]|not specified [RCV004594156] 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]|Inborn genetic diseases [RCV002370086] Chr8:27463537 [GRCh38]
Chr8:27321054 [GRCh37]
Chr8:8p21.2
likely benign|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]|CHRNA2-related disorder [RCV003965590]|not provided [RCV001766640] Chr8:27469840 [GRCh38]
Chr8:27327357 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746572]|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]|Inborn genetic diseases [RCV004609584]|not provided [RCV001824404] Chr8:27463298 [GRCh38]
Chr8:27320815 [GRCh37]
Chr8:8p21.2
likely benign|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 4 [RCV004799255]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001208620] 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.73+5G>A single nucleotide variant not provided [RCV003127054] Chr8:27470981 [GRCh38]
Chr8:27328498 [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
benign|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746593]|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
benign|likely benign
NM_000742.4(CHRNA2):c.1245G>C (p.Val415=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001469342]|Inborn genetic diseases [RCV002390984] 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] 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] 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]|CHRNA2-related disorder [RCV003903253] 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 4 [RCV004799258]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244362] 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]|not provided [RCV004699223] 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]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746584] 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]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583193] 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]|Inborn genetic diseases [RCV002562478] 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
likely benign|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]|Inborn genetic diseases [RCV003380814] Chr8:27463284 [GRCh38]
Chr8:27320801 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|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.1479_1482dup (p.Tyr495fs) duplication not provided [RCV003232031] Chr8:27461736..27461737 [GRCh38]
Chr8:27319253..27319254 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 copy number gain not provided [RCV002472907] Chr8:27064033..28832392 [GRCh37]
Chr8:8p21.2-12
uncertain significance
NM_000742.4(CHRNA2):c.411del (p.Glu138fs) deletion not provided [RCV003328013] Chr8:27467267 [GRCh38]
Chr8:27324784 [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]|not provided [RCV002466608] 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]|not provided [RCV004768853] 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 4 [RCV002505593]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001049200]|Inborn genetic diseases [RCV002374896] 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
likely benign|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]|Inborn genetic diseases [RCV002393252] 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]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV002558506] Chr8:27463486 [GRCh38]
Chr8:27321003 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|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 4 [RCV003145322]|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
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
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]|not provided [RCV004770054] Chr8:27463569 [GRCh38]
Chr8:27321086 [GRCh37]
Chr8:8p21.2
likely benign|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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001318190]|Inborn genetic diseases [RCV002447346] 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 4 [RCV002227520]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV001339989]|not provided [RCV004699317] 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]|Inborn genetic diseases [RCV003284156] Chr8:27461751 [GRCh38]
Chr8:27319268 [GRCh37]
Chr8:8p21.2
likely benign|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 Abnormal fetal cardiovascular morphology [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
likely benign|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
likely benign|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
likely benign|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
likely benign|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
likely benign|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]|CHRNA2-related disorder [RCV003965939] 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]|Inborn genetic diseases [RCV002456874] 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]|Inborn genetic diseases [RCV004038212] Chr8:27467310 [GRCh38]
Chr8:27324827 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
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]|Inborn genetic diseases [RCV002377741] 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]|not specified [RCV003399246] 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]|Inborn genetic diseases [RCV002421096] 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]|Inborn genetic diseases [RCV002395974]|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.1303A>G (p.Thr435Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003107302] Chr8:27463140 [GRCh38]
Chr8:27320657 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
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
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003772041]|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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV002540582]|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
likely benign|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
likely benign|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]|Inborn genetic diseases [RCV002370472] 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 Autosomal dominant nocturnal frontal lobe epilepsy [RCV003107941]|not provided [RCV002043387] Chr8:27319146..28608383 [GRCh37]
Chr8:8p21.2-21.1
uncertain significance|no classifications from unflagged records
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]|Inborn genetic diseases [RCV003289253] 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]|Inborn genetic diseases [RCV004612047] Chr8:27463424 [GRCh38]
Chr8:27320941 [GRCh37]
Chr8:8p21.2
likely benign|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]|not provided [RCV003222373] 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]|not provided [RCV003170320] 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
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001975443]|Inborn genetic diseases [RCV003170218] 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]|not provided [RCV004774556] 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]|CHRNA2-related disorder [RCV004743664] 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
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001870031] Chr8:27463265 [GRCh38]
Chr8:27320782 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002051359] Chr8:27463478 [GRCh38]
Chr8:27320995 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001957476] Chr8:27463338 [GRCh38]
Chr8:27320855 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001979574]|not specified [RCV004699599] Chr8:27467298 [GRCh38]
Chr8:27324815 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1412A>G (p.Glu471Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002049482] Chr8:27463031 [GRCh38]
Chr8:27320548 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001902381] Chr8:27463487 [GRCh38]
Chr8:27321004 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001938724] Chr8:27463695 [GRCh38]
Chr8:27321212 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002018077] Chr8:27463287 [GRCh38]
Chr8:27320804 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002011600] Chr8:27463349 [GRCh38]
Chr8:27320866 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1464+5G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002032955] Chr8:27462974 [GRCh38]
Chr8:27320491 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.323A>C (p.Asn108Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002046140]|CHRNA2-related disorder [RCV003403654] Chr8:27469351 [GRCh38]
Chr8:27326868 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met) indel Autosomal dominant nocturnal frontal lobe epilepsy [RCV002048318] Chr8:27463530..27463531 [GRCh38]
Chr8:27321047..27321048 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.449+2T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001979162] Chr8:27467227 [GRCh38]
Chr8:27324744 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.694G>A (p.Ala232Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002089567] Chr8:27463749 [GRCh38]
Chr8:27321266 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1014C>T (p.Phe338=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002184870]|Inborn genetic diseases [RCV002331682] Chr8:27463429 [GRCh38]
Chr8:27320946 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.747C>G (p.Ala249=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002166787] Chr8:27463696 [GRCh38]
Chr8:27321213 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1147C>A (p.Pro383Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002209796] Chr8:27463296 [GRCh38]
Chr8:27320813 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.294+10T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002148094] Chr8:27469751 [GRCh38]
Chr8:27327268 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1304C>T (p.Thr435Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002189847] Chr8:27463139 [GRCh38]
Chr8:27320656 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.762C>T (p.Asp254=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002107254] Chr8:27463681 [GRCh38]
Chr8:27321198 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.295-9C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002148758] Chr8:27469388 [GRCh38]
Chr8:27326905 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.966G>C (p.Ser322=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002210765] Chr8:27463477 [GRCh38]
Chr8:27320994 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.333A>G (p.Leu111=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002131454] Chr8:27469341 [GRCh38]
Chr8:27326858 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1365G>T (p.Leu455=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002131277] Chr8:27463078 [GRCh38]
Chr8:27320595 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.339+13dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV002132341] Chr8:27469321..27469322 [GRCh38]
Chr8:27326838..27326839 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.348C>A (p.Ser116Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002138751] Chr8:27467330 [GRCh38]
Chr8:27324847 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.340-9C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002175587] Chr8:27467347 [GRCh38]
Chr8:27324864 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.416T>C (p.Met139Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002198260]|not provided [RCV003443005] Chr8:27467262 [GRCh38]
Chr8:27324779 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.69A>C (p.Pro23=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002102784] Chr8:27470990 [GRCh38]
Chr8:27328507 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.558C>T (p.Asp186=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002120979] Chr8:27463885 [GRCh38]
Chr8:27321402 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.906G>T (p.Ser302=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002136988] Chr8:27463537 [GRCh38]
Chr8:27321054 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.105G>A (p.Arg35=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002181393] Chr8:27469950 [GRCh38]
Chr8:27327467 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.48G>A (p.Leu16=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002138046] Chr8:27471011 [GRCh38]
Chr8:27328528 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.282G>A (p.Gln94=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002138463] Chr8:27469773 [GRCh38]
Chr8:27327290 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002120978]|Inborn genetic diseases [RCV004612150] Chr8:27463800 [GRCh38]
Chr8:27321317 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_000742.4(CHRNA2):c.1020C>T (p.Thr340=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002178957] Chr8:27463423 [GRCh38]
Chr8:27320940 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1263C>T (p.Asp421=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002217125] Chr8:27463180 [GRCh38]
Chr8:27320697 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.98C>G (p.Pro33Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003112003] Chr8:27469957 [GRCh38]
Chr8:27327474 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1029C>T (p.Ile343=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003118437] Chr8:27463414 [GRCh38]
Chr8:27320931 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.970G>A (p.Val324Ile) single nucleotide variant not provided [RCV003149182] Chr8:27463473 [GRCh38]
Chr8:27320990 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV003144924] Chr8:27471044 [GRCh38]
Chr8:27328561 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746612]|not provided [RCV002273434] Chr8:27463225 [GRCh38]
Chr8:27320742 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1437C>G (p.His479Gln) single nucleotide variant not provided [RCV002269515] Chr8:27463006 [GRCh38]
Chr8:27320523 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.636C>A (p.Asp212Glu) single nucleotide variant not provided [RCV002269571] Chr8:27463807 [GRCh38]
Chr8:27321324 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.11:g.27479265_27479274del deletion not provided [RCV002263476] Chr8:27479256..27479265 [GRCh38]
Chr8:27336773..27336782 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.572_573delinsTT (p.Pro191Leu) indel not provided [RCV002273423] Chr8:27463870..27463871 [GRCh38]
Chr8:27321387..27321388 [GRCh37]
Chr8:8p21.2
uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV002290342] Chr8:27461754 [GRCh38]
Chr8:27319271 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003101679]|not provided [RCV002292044] Chr8:27463472 [GRCh38]
Chr8:27320989 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22
pathogenic
NM_000742.4(CHRNA2):c.1069C>T (p.Pro357Ser) single nucleotide variant Inborn genetic diseases [RCV002410750] Chr8:27463374 [GRCh38]
Chr8:27320891 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.9C>T (p.Pro3=) single nucleotide variant Inborn genetic diseases [RCV002383134] Chr8:27471050 [GRCh38]
Chr8:27328567 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.733T>A (p.Tyr245Asn) single nucleotide variant Inborn genetic diseases [RCV002380207] Chr8:27463710 [GRCh38]
Chr8:27321227 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002299709] Chr8:27463880 [GRCh38]
Chr8:27321397 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002294821]|not provided [RCV003327557] Chr8:27463767 [GRCh38]
Chr8:27321284 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1083C>A (p.Thr361=) single nucleotide variant Inborn genetic diseases [RCV002432612] Chr8:27463360 [GRCh38]
Chr8:27320877 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1478_1499del (p.Trp493fs) deletion Inborn genetic diseases [RCV002397059] Chr8:27461720..27461741 [GRCh38]
Chr8:27319237..27319258 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003099266]|Inborn genetic diseases [RCV002322725] Chr8:27463312 [GRCh38]
Chr8:27320829 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.867G>C (p.Leu289=) single nucleotide variant Inborn genetic diseases [RCV002373366] Chr8:27463576 [GRCh38]
Chr8:27321093 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003102711]|Inborn genetic diseases [RCV002340937] Chr8:27463919 [GRCh38]
Chr8:27321436 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.170A>C (p.Glu57Ala) single nucleotide variant Inborn genetic diseases [RCV002398851] Chr8:27469885 [GRCh38]
Chr8:27327402 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002301571] Chr8:27463361 [GRCh38]
Chr8:27320878 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.221C>A (p.Ala74Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002295004] Chr8:27469834 [GRCh38]
Chr8:27327351 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002838964] Chr8:27461684 [GRCh38]
Chr8:27319201 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002904101] Chr8:27467316 [GRCh38]
Chr8:27324833 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002615363] Chr8:27463941 [GRCh38]
Chr8:27321458 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002971090] Chr8:27463338 [GRCh38]
Chr8:27320855 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002837490] Chr8:27463799 [GRCh38]
Chr8:27321316 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1362G>A (p.Leu454=) single nucleotide variant not provided [RCV002475403] Chr8:27463081 [GRCh38]
Chr8:27320598 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1301G>A (p.Gly434Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002975575] Chr8:27463142 [GRCh38]
Chr8:27320659 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002750909] Chr8:27469376 [GRCh38]
Chr8:27326893 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002996308]|not provided [RCV003324862] Chr8:27463796 [GRCh38]
Chr8:27321313 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-19C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002726595] Chr8:27469398 [GRCh38]
Chr8:27326915 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.373del (p.Thr125fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003012143] Chr8:27467305 [GRCh38]
Chr8:27324822 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV003143538]|Inborn genetic diseases [RCV002731684] Chr8:27463659 [GRCh38]
Chr8:27321176 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1161G>T (p.Val387=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002613501] Chr8:27463282 [GRCh38]
Chr8:27320799 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002730295] Chr8:27463599 [GRCh38]
Chr8:27321116 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002974953] Chr8:27469874 [GRCh38]
Chr8:27327391 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.910C>T (p.Leu304=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002904580] Chr8:27463533 [GRCh38]
Chr8:27321050 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002750764] Chr8:27461685 [GRCh38]
Chr8:27319202 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.339+11C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002995867] Chr8:27469324 [GRCh38]
Chr8:27326841 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002613920] Chr8:27463457 [GRCh38]
Chr8:27320974 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.294+2T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002695663] Chr8:27469759 [GRCh38]
Chr8:27327276 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.86C>G (p.Ala29Gly) single nucleotide variant Inborn genetic diseases [RCV002708014] Chr8:27469969 [GRCh38]
Chr8:27327486 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1345C>T (p.Pro449Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002909699] Chr8:27463098 [GRCh38]
Chr8:27320615 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.372_373inv (p.Thr125Ala) inversion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003077207] Chr8:27467305..27467306 [GRCh38]
Chr8:27324822..27324823 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.340-11C>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003055430] Chr8:27467349 [GRCh38]
Chr8:27324866 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003081314]|not provided [RCV003435864] Chr8:27463866 [GRCh38]
Chr8:27321383 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002690965] Chr8:27463268 [GRCh38]
Chr8:27320785 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003018578] Chr8:27463892 [GRCh38]
Chr8:27321409 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002620402] Chr8:27469790 [GRCh38]
Chr8:27327307 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1248G>A (p.Val416=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002843980] Chr8:27463195 [GRCh38]
Chr8:27320712 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002952642] Chr8:27463176 [GRCh38]
Chr8:27320693 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.214C>A (p.Arg72Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002785579] Chr8:27469841 [GRCh38]
Chr8:27327358 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.444C>T (p.Tyr148=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002870873] Chr8:27467234 [GRCh38]
Chr8:27324751 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.340-16C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003081203] Chr8:27467354 [GRCh38]
Chr8:27324871 [GRCh37]
Chr8:8p21.2
benign
NM_000742.4(CHRNA2):c.327C>T (p.Val109=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002846359] Chr8:27469347 [GRCh38]
Chr8:27326864 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.372C>G (p.Pro124=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003025633] Chr8:27467306 [GRCh38]
Chr8:27324823 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1154C>G (p.Pro385Arg) single nucleotide variant Inborn genetic diseases [RCV002850504] Chr8:27463289 [GRCh38]
Chr8:27320806 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1464+7T>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003083408] Chr8:27462972 [GRCh38]
Chr8:27320489 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1292C>T (p.Pro431Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002594523] Chr8:27463151 [GRCh38]
Chr8:27320668 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002595962] Chr8:27471043 [GRCh38]
Chr8:27328560 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1539C>T (p.Phe513=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002982554] Chr8:27461680 [GRCh38]
Chr8:27319197 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.711G>A (p.Thr237=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002852023] Chr8:27463732 [GRCh38]
Chr8:27321249 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003022438] Chr8:27463536 [GRCh38]
Chr8:27321053 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003056313] Chr8:27463621 [GRCh38]
Chr8:27321138 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002928685]|not specified [RCV003491172] Chr8:27469878 [GRCh38]
Chr8:27327395 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.375T>C (p.Thr125=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002851661] Chr8:27467303 [GRCh38]
Chr8:27324820 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1318G>C (p.Gly440Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003058138] Chr8:27463125 [GRCh38]
Chr8:27320642 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1122G>T (p.Val374=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002894570] Chr8:27463321 [GRCh38]
Chr8:27320838 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1239G>A (p.Arg413=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003024018] Chr8:27463204 [GRCh38]
Chr8:27320721 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1155A>G (p.Pro385=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003023827] Chr8:27463288 [GRCh38]
Chr8:27320805 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.216C>T (p.Arg72=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002828366] Chr8:27469839 [GRCh38]
Chr8:27327356 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.78A>C (p.Gly26=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002893859] Chr8:27469977 [GRCh38]
Chr8:27327494 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.182G>C (p.Arg61Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002983118] Chr8:27469873 [GRCh38]
Chr8:27327390 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.929T>A (p.Phe310Tyr) single nucleotide variant Inborn genetic diseases [RCV002804039] Chr8:27463514 [GRCh38]
Chr8:27321031 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1230C>T (p.Ala410=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002741295] Chr8:27463213 [GRCh38]
Chr8:27320730 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.74-6T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002666927] Chr8:27469987 [GRCh38]
Chr8:27327504 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1533C>G (p.Val511=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002801587] Chr8:27461686 [GRCh38]
Chr8:27319203 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.295-5G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002701406] Chr8:27469384 [GRCh38]
Chr8:27326901 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.699C>A (p.Ile233=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002601648] Chr8:27463744 [GRCh38]
Chr8:27321261 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003065876] Chr8:27463350 [GRCh38]
Chr8:27320867 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003027072] Chr8:27463214 [GRCh38]
Chr8:27320731 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.294+19C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002651174] Chr8:27469742 [GRCh38]
Chr8:27327259 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1397T>C (p.Met466Thr) single nucleotide variant Inborn genetic diseases [RCV002713995] Chr8:27463046 [GRCh38]
Chr8:27320563 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.6C>A (p.Gly2=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002810381] Chr8:27471053 [GRCh38]
Chr8:27328570 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1465-21_1465-20inv inversion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003046524] Chr8:27461774..27461775 [GRCh38]
Chr8:27319291..27319292 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003010151]|not provided [RCV004593123] Chr8:27463920 [GRCh38]
Chr8:27321437 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003062039] Chr8:27469860 [GRCh38]
Chr8:27327377 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1366C>G (p.Gln456Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003026915] Chr8:27463077 [GRCh38]
Chr8:27320594 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.245A>G (p.Asp82Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002650919] Chr8:27469810 [GRCh38]
Chr8:27327327 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.703A>C (p.Asn235His) single nucleotide variant Inborn genetic diseases [RCV002809552] Chr8:27463740 [GRCh38]
Chr8:27321257 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1327del (p.His443fs) deletion Inborn genetic diseases [RCV002792984]|not provided [RCV004775323] Chr8:27463116 [GRCh38]
Chr8:27320633 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.924C>G (p.Thr308=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003066598] Chr8:27463519 [GRCh38]
Chr8:27321036 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002943208] Chr8:27463781 [GRCh38]
Chr8:27321298 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1217G>C (p.Ser406Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002587130] Chr8:27463226 [GRCh38]
Chr8:27320743 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002609321] Chr8:27469346 [GRCh38]
Chr8:27326863 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His) indel Autosomal dominant nocturnal frontal lobe epilepsy [RCV002657978] Chr8:27463182..27463183 [GRCh38]
Chr8:27320699..27320700 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002943996]|not provided [RCV004725438] Chr8:27467302 [GRCh38]
Chr8:27324819 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.340-18C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV002610622] Chr8:27467356 [GRCh38]
Chr8:27324873 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1483T>C (p.Tyr495His) single nucleotide variant not provided [RCV003227433] Chr8:27461736 [GRCh38]
Chr8:27319253 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746664]|Inborn genetic diseases [RCV003194940] Chr8:27463562 [GRCh38]
Chr8:27321079 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.645G>C (p.Gln215His) single nucleotide variant Inborn genetic diseases [RCV004610477] Chr8:27463798 [GRCh38]
Chr8:27321315 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.716C>G (p.Thr239Ser) single nucleotide variant Inborn genetic diseases [RCV004610479] Chr8:27463727 [GRCh38]
Chr8:27321244 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1417G>A (p.Val473Met) single nucleotide variant Inborn genetic diseases [RCV003287138] Chr8:27463026 [GRCh38]
Chr8:27320543 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1442G>T (p.Arg481Leu) single nucleotide variant Inborn genetic diseases [RCV003263514] Chr8:27463001 [GRCh38]
Chr8:27320518 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
NM_000742.4(CHRNA2):c.824C>T (p.Pro275Leu) single nucleotide variant not provided [RCV003329884] Chr8:27463619 [GRCh38]
Chr8:27321136 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1304C>A (p.Thr435Asn) single nucleotide variant Inborn genetic diseases [RCV003383316] Chr8:27463139 [GRCh38]
Chr8:27320656 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy 4 [RCV003486042]|Autosomal dominant nocturnal frontal lobe epilepsy [RCV003779239] Chr8:27471008 [GRCh38]
Chr8:27328525 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
NM_000742.4(CHRNA2):c.718T>C (p.Tyr240His) single nucleotide variant not provided [RCV003436827] Chr8:27463725 [GRCh38]
Chr8:27321242 [GRCh37]
Chr8:8p21.2
uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_000742.4(CHRNA2):c.422G>A (p.Trp141Ter) single nucleotide variant not provided [RCV003436828] Chr8:27467256 [GRCh38]
Chr8:27324773 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1350G>T (p.Lys450Asn) single nucleotide variant not specified [RCV003489690] Chr8:27463093 [GRCh38]
Chr8:27320610 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003811961] Chr8:27463655 [GRCh38]
Chr8:27321172 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583232] Chr8:27467250 [GRCh38]
Chr8:27324767 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583269] Chr8:27469858 [GRCh38]
Chr8:27327375 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583306] Chr8:27469981 [GRCh38]
Chr8:27327498 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583266] Chr8:27463749..27463757 [GRCh38]
Chr8:27321266..27321274 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583434] Chr8:27469786 [GRCh38]
Chr8:27327303 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.449+16G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583594] Chr8:27467213 [GRCh38]
Chr8:27324730 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.894G>C (p.Thr298=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003855104] Chr8:27463549 [GRCh38]
Chr8:27321066 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1029C>A (p.Ile343=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583661] Chr8:27463414 [GRCh38]
Chr8:27320931 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.411T>A (p.Ser137=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583995] Chr8:27467267 [GRCh38]
Chr8:27324784 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583623] Chr8:27463450 [GRCh38]
Chr8:27320967 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer) duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583725] Chr8:27463297..27463298 [GRCh38]
Chr8:27320814..27320815 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.363C>G (p.Arg121=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583405] Chr8:27467315 [GRCh38]
Chr8:27324832 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583895] Chr8:27471030 [GRCh38]
Chr8:27328547 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.618T>C (p.Tyr206=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583464] Chr8:27463825 [GRCh38]
Chr8:27321342 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003850005] Chr8:27463490 [GRCh38]
Chr8:27321007 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583888] Chr8:27463168 [GRCh38]
Chr8:27320685 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.564C>T (p.Thr188=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583442] Chr8:27463879 [GRCh38]
Chr8:27321396 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1332T>A (p.Ser444=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583443] Chr8:27463111 [GRCh38]
Chr8:27320628 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1037C>T (p.Thr346Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583702] Chr8:27463406 [GRCh38]
Chr8:27320923 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1346C>G (p.Pro449Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583241] Chr8:27463097 [GRCh38]
Chr8:27320614 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583948] Chr8:27471035 [GRCh38]
Chr8:27328552 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003583989] Chr8:27461651 [GRCh38]
Chr8:27319168 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003819215] Chr8:27467308 [GRCh38]
Chr8:27324825 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003862007]|Inborn genetic diseases [RCV004614562] Chr8:27467317 [GRCh38]
Chr8:27324834 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12
pathogenic
NM_000742.4(CHRNA2):c.915G>A (p.Leu305=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746716] Chr8:27463528 [GRCh38]
Chr8:27321045 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746834] Chr8:27469924 [GRCh38]
Chr8:27327441 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3
pathogenic
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746082] Chr8:27463818 [GRCh38]
Chr8:27321335 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1050C>T (p.Leu350=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747057] Chr8:27463393 [GRCh38]
Chr8:27320910 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746241] Chr8:27462983 [GRCh38]
Chr8:27320500 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746289] Chr8:27463827..27463840 [GRCh38]
Chr8:27321344..27321357 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.559G>A (p.Val187Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746392] Chr8:27463884 [GRCh38]
Chr8:27321401 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746476] Chr8:27463887 [GRCh38]
Chr8:27321404 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746422] Chr8:27463200 [GRCh38]
Chr8:27320717 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1441C>A (p.Arg481=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003867969] Chr8:27463002 [GRCh38]
Chr8:27320519 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000742.4(CHRNA2):c.1221C>T (p.Asn407=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746959] Chr8:27463222 [GRCh38]
Chr8:27320739 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1306C>T (p.Leu436Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747039] Chr8:27463137 [GRCh38]
Chr8:27320654 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.220G>A (p.Ala74Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747241] Chr8:27469835 [GRCh38]
Chr8:27327352 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.332T>C (p.Leu111Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747244] Chr8:27469342 [GRCh38]
Chr8:27326859 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000742.4(CHRNA2):c.747C>T (p.Ala249=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747436] Chr8:27463696 [GRCh38]
Chr8:27321213 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.74-6T>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747397] Chr8:27469987 [GRCh38]
Chr8:27327504 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003860557] Chr8:27469336 [GRCh38]
Chr8:27326853 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1465-6C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747647] Chr8:27461760 [GRCh38]
Chr8:27319277 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1
pathogenic
NM_000742.4(CHRNA2):c.106del (p.Ala36fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746051] Chr8:27469949 [GRCh38]
Chr8:27327466 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746056] Chr8:27467314 [GRCh38]
Chr8:27324831 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746168] Chr8:27467256..27467265 [GRCh38]
Chr8:27324773..27324782 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746455] Chr8:27469963 [GRCh38]
Chr8:27327480 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.450-1G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746456] Chr8:27463994 [GRCh38]
Chr8:27321511 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.295-8del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746334] Chr8:27469387 [GRCh38]
Chr8:27326904 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1464+12T>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746880] Chr8:27462967 [GRCh38]
Chr8:27320484 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.15T>C (p.Cys5=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746921] Chr8:27471044 [GRCh38]
Chr8:27328561 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746748] Chr8:27461749..27461751 [GRCh38]
Chr8:27319266..27319268 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.981C>T (p.Leu327=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746796] Chr8:27463462 [GRCh38]
Chr8:27320979 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.543C>T (p.Ser181=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746816] Chr8:27463900 [GRCh38]
Chr8:27321417 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746775] Chr8:27463170 [GRCh38]
Chr8:27320687 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747567] Chr8:27463184 [GRCh38]
Chr8:27320701 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.978G>A (p.Pro326=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747579] Chr8:27463465 [GRCh38]
Chr8:27320982 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.339+5G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747590] Chr8:27469330 [GRCh38]
Chr8:27326847 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.35C>T (p.Thr12Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746826] Chr8:27471024 [GRCh38]
Chr8:27328541 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.213C>T (p.Asn71=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746861] Chr8:27469842 [GRCh38]
Chr8:27327359 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746761] Chr8:27467286 [GRCh38]
Chr8:27324803 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747610]|CHRNA2-related disorder [RCV004723458] Chr8:27467241 [GRCh38]
Chr8:27324758 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.154G>A (p.Gly52Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747020] Chr8:27469901 [GRCh38]
Chr8:27327418 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747325] Chr8:27469778 [GRCh38]
Chr8:27327295 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1482G>A (p.Lys494=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003747380] Chr8:27461737 [GRCh38]
Chr8:27319254 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.288C>G (p.Ile96Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746240] Chr8:27469767 [GRCh38]
Chr8:27327284 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003746252] Chr8:27469798 [GRCh38]
Chr8:27327315 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.633C>T (p.Ile211=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003863952] Chr8:27463810 [GRCh38]
Chr8:27321327 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.450-15C>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV003847769] Chr8:27464008 [GRCh38]
Chr8:27321525 [GRCh37]
Chr8:8p21.2
likely benign
NM_000742.4(CHRNA2):c.1270G>T (p.Ala424Ser) single nucleotide variant Inborn genetic diseases [RCV004441471] Chr8:27463173 [GRCh38]
Chr8:27320690 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.511G>C (p.Val171Leu) single nucleotide variant Inborn genetic diseases [RCV004441472] Chr8:27463932 [GRCh38]
Chr8:27321449 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.815T>A (p.Leu272His) single nucleotide variant not provided [RCV004547071] Chr8:27463628 [GRCh38]
Chr8:27321145 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1529T>C (p.Ile510Thr) single nucleotide variant CHRNA2-related disorder [RCV003931491] Chr8:27461690 [GRCh38]
Chr8:27319207 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.763G>A (p.Val255Ile) single nucleotide variant Inborn genetic diseases [RCV004610480] Chr8:27463680 [GRCh38]
Chr8:27321197 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.772G>T (p.Ala258Ser) single nucleotide variant Inborn genetic diseases [RCV004610482] Chr8:27463671 [GRCh38]
Chr8:27321188 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.773C>A (p.Ala258Asp) single nucleotide variant Inborn genetic diseases [RCV004610484] Chr8:27463670 [GRCh38]
Chr8:27321187 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.10:g.(?_27319146)_(27328575_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV004583304] Chr8:27319146..27328575 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1523T>C (p.Phe508Ser) single nucleotide variant not provided [RCV004592386] Chr8:27461696 [GRCh38]
Chr8:27319213 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.763G>T (p.Val255Phe) single nucleotide variant not provided [RCV004573101] Chr8:27463680 [GRCh38]
Chr8:27321197 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.770A>T (p.Tyr257Phe) single nucleotide variant Inborn genetic diseases [RCV004610481] Chr8:27463673 [GRCh38]
Chr8:27321190 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.654G>C (p.Gln218His) single nucleotide variant Inborn genetic diseases [RCV004610478] Chr8:27463789 [GRCh38]
Chr8:27321306 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1471G>A (p.Glu491Lys) single nucleotide variant not provided [RCV004770693] Chr8:27461748 [GRCh38]
Chr8:27319265 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.527dup (p.Ala177fs) duplication not provided [RCV004763064]   uncertain significance
NM_000742.4(CHRNA2):c.194_195del (p.His65fs) microsatellite not provided [RCV004768277] Chr8:27469860..27469861 [GRCh38]
Chr8:27327377..27327378 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.754T>A (p.Tyr252Asn) single nucleotide variant not provided [RCV004774787] Chr8:27463689 [GRCh38]
Chr8:27321206 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_000742.4(CHRNA2):c.1564C>T (p.Pro522Ser) single nucleotide variant not provided [RCV004775225] Chr8:27461655 [GRCh38]
Chr8:27319172 [GRCh37]
Chr8:8p21.2
uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
597068021GWAS1164095_Hfamily history of Alzheimer’s disease QTL GWAS1164095 (human)0.000004family history of Alzheimer’s disease82746233027462331Human
597133459GWAS1229533_Hmemory performance QTL GWAS1229533 (human)0.000008memory performance82746238827462389Human
597043986GWAS1140060_Hsmoking status measurement QTL GWAS1140060 (human)1e-10smoking status measurement82747925027479251Human
597122450GWAS1218524_Hlung cancer QTL GWAS1218524 (human)3e-15lung cancer82746238827462389Human
597094256GWAS1190330_Hschizophrenia QTL GWAS1190330 (human)0.0000002schizophrenia82747050427470505Human
597140603GWAS1236677_HX-24309 measurement QTL GWAS1236677 (human)3e-17X-24309 measurement82747083727470838Human
597256693GWAS1352767_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1352767 (human)0.000003Alzheimer disease, gastroesophageal reflux disease82747360227473603Human
596984474GWAS1103993_Hmemory performance QTL GWAS1103993 (human)0.000008memory performance82746238827462389Human
597068066GWAS1164140_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1164140 (human)5e-08Alzheimer disease, family history of Alzheimer’s disease82747257927472580Human
597068067GWAS1164141_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1164141 (human)1e-10Alzheimer disease, family history of Alzheimer’s disease82746233027462331Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
597160365GWAS1256439_H3-methoxytyrosine measurement QTL GWAS1256439 (human)0.0000093-methoxytyrosine measurement82747342027473421Human
597133420GWAS1229494_Hmemory performance QTL GWAS1229494 (human)0.000006memory performance82746238827462389Human
597215875GWAS1311949_Hcigarettes per day measurement QTL GWAS1311949 (human)9e-09cigarettes per day measurement82747658127476582Human
597207108GWAS1303182_Hprotein measurement QTL GWAS1303182 (human)1e-09protein measurement82747257927472580Human
597030792GWAS1126866_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1126866 (human)3e-09Alzheimer disease, family history of Alzheimer’s disease82746545727465458Human
596989387GWAS1108906_Hmemory performance QTL GWAS1108906 (human)0.000006memory performance82746238827462389Human

Markers in Region
D8S131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,336,710 - 27,336,852UniSTSGRCh37
GRCh37827,336,714 - 27,336,854UniSTSGRCh37
GRCh37827,348,166 - 27,348,312UniSTSGRCh37
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
805 1467 1926 1366 4515 1331 1647 326 1407 225 1741 4505 4379 4 3373 504 1309 1155 103 1

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
  XM_054359683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359685 (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

Ensembl Acc Id: ENST00000240132   ⟹   ENSP00000240132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,461,603 - 27,478,851 (-)Ensembl
Ensembl Acc Id: ENST00000407991   ⟹   ENSP00000385026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,459,756 - 27,479,261 (-)Ensembl
Ensembl Acc Id: ENST00000518712   ⟹   ENSP00000430856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,469,812 - 27,478,929 (-)Ensembl
Ensembl Acc Id: ENST00000520208   ⟹   ENSP00000430994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,471,002 - 27,479,857 (-)Ensembl
Ensembl Acc Id: ENST00000520600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,460,576 - 27,467,517 (-)Ensembl
Ensembl Acc Id: ENST00000520650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,471,140 - 27,479,291 (-)Ensembl
Ensembl Acc Id: ENST00000520933   ⟹   ENSP00000429616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,461,098 - 27,479,013 (-)Ensembl
Ensembl Acc Id: ENST00000521921   ⟹   ENSP00000429953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,469,905 - 27,475,502 (-)Ensembl
Ensembl Acc Id: ENST00000522008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,463,628 - 27,469,408 (-)Ensembl
Ensembl Acc Id: ENST00000523695   ⟹   ENSP00000430612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,461,098 - 27,479,214 (-)Ensembl
Ensembl Acc Id: ENST00000524096   ⟹   ENSP00000430422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,469,349 - 27,479,883 (-)Ensembl
Ensembl Acc Id: ENST00000637241   ⟹   ENSP00000490690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,463,391 - 27,479,261 (-)Ensembl
Ensembl Acc Id: ENST00000637361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
RefSeq Acc Id: XM_047421312   ⟹   XP_047277268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
RefSeq Acc Id: XM_047421313   ⟹   XP_047277269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,459,756 - 27,479,261 (-)NCBI
RefSeq Acc Id: XM_054359683   ⟹   XP_054215658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
RefSeq Acc Id: XM_054359684   ⟹   XP_054215659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,737,110 - 27,756,611 (-)NCBI
RefSeq Acc Id: XM_054359685   ⟹   XP_054215660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,737,110 - 27,756,814 (-)NCBI
RefSeq Acc Id: NP_000733   ⟸   NM_000742
- Peptide Label: isoform 1 precursor
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269384   ⟸   NM_001282455
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0X1KG79 (UniProtKB/TrEMBL)
- 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:
Ensembl Acc Id: ENSP00000240132   ⟸   ENST00000240132
Ensembl Acc Id: ENSP00000430856   ⟸   ENST00000518712
Ensembl Acc Id: ENSP00000490690   ⟸   ENST00000637241
Ensembl Acc Id: ENSP00000430994   ⟸   ENST00000520208
Ensembl Acc Id: ENSP00000429616   ⟸   ENST00000520933
Ensembl Acc Id: ENSP00000429953   ⟸   ENST00000521921
Ensembl Acc Id: ENSP00000430612   ⟸   ENST00000523695
Ensembl Acc Id: ENSP00000430422   ⟸   ENST00000524096
Ensembl Acc Id: ENSP00000385026   ⟸   ENST00000407991
RefSeq Acc Id: XP_047277269   ⟸   XM_047421313
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277267   ⟸   XM_047421311
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277268   ⟸   XM_047421312
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215660   ⟸   XM_054359685
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215658   ⟸   XM_054359683
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215659   ⟸   XM_054359684
- Peptide Label: isoform X1
- UniProtKB: Q15822 (UniProtKB/Swiss-Prot),   J3KMY9 (UniProtKB/Swiss-Prot),   B4DK19 (UniProtKB/Swiss-Prot),   A8KAX3 (UniProtKB/Swiss-Prot),   Q9HAQ3 (UniProtKB/Swiss-Prot),   A0A0X1KG79 (UniProtKB/TrEMBL)
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1956 AgrOrtholog
COSMIC CHRNA2 COSMIC
Ensembl Genes ENSG00000120903 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000240132 ENTREZGENE
  ENST00000240132.7 UniProtKB/Swiss-Prot
  ENST00000407991 ENTREZGENE
  ENST00000407991.3 UniProtKB/Swiss-Prot
  ENST00000518712.5 UniProtKB/TrEMBL
  ENST00000520208.1 UniProtKB/TrEMBL
  ENST00000520933.7 UniProtKB/TrEMBL
  ENST00000521921.5 UniProtKB/TrEMBL
  ENST00000523695.5 UniProtKB/TrEMBL
  ENST00000524096.5 UniProtKB/TrEMBL
  ENST00000637241.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120903 GTEx