MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:11109
Name:SEIZURES, BENIGN FAMILIAL NEONATAL, 1
Definition:
Alternative IDs:DO:DOID:14264
ParentIDs:MESH:D020936
TreeNumbers:C10.228.140.490.370/121200 |C16.614.258/121200
Synonyms:BFNS1 |EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED |SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
Slim Mappings:Infant-newborn disease|Nervous system disease
Reference: MedGen: 121200
MeSH: 121200
OMIM: 121200;
MSeqDR LSDB:  
Genes: KCNQ2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritanceHP:0040283
3 HP:0003623Neonatal onset
4 HP:0002373Febrile seizuresHP:0040283
5 HP:0002266Focal clonic seizures
6 HP:0002069Generalized tonic-clonic seizures
7 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
9 HP:0001425Heterogeneous
10 HP:0001270Motor delayHP:0040283
11 HP:0002411Myokymia
12 HP:0003812Phenotypic variability
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs)478ATP1A3Pathogenic-1RCV001667869; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949194248613742486137AGA42486136-
GRCh37/hg19 20q13.33(chr20:61038552-62907579)3785KCNQ2Likely pathogenic-1RCV001786557; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206103855262907579nana-1-
GRCh37/hg19 20q13.33(chr20:61041481-62680992)3785KCNQ2Likely pathogenic-1RCV001786555; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206104148162680992nana-1-
GRCh37/hg19 20q13.33(chr20:61273854-62907579)3785KCNQ2Likely pathogenic-1RCV001786556; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206127385462907579nana-1-
GRCh37/hg19 20q13.33(chr20:61826780-62660844)3785KCNQ2Likely pathogenic-1RCV001786550; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206182678062660844nana-1-
GRCh37/hg19 20q13.33(chr20:61944468-62104030)3785KCNQ2Likely pathogenic-1RCV001786549; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206194446862104030nana-1-
GRCh37/hg19 20q13.33(chr20:61974574-62129187)3785KCNQ2Likely pathogenic-1RCV001786552; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206197457462129187nana-1-
GRCh37/hg19 20q13.33(chr20:61974574-62078190)3785KCNQ2Likely pathogenic-1RCV001786553; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206197457462078190nana-1-
GRCh37/hg19 20q13.33(chr20:61986847-62055559)3785KCNQ2Likely pathogenic-1RCV001786554; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206198684762055559nana-1-
GRCh37/hg19 20q13.33(chr20:61986847-62224435)3785KCNQ2Likely pathogenic-1RCV001786558; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206198684762224435nana-1-
nsv11975773785KCNQ2Pathogenic-1RCV000678111; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206201580662064474nanadbVar:nssv7487172C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.3(KCNQ2):c.1764-?_*(455_?)del3785KCNQ2Pathogenic-1RCV000678197; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203754262039889nana-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.3(KCNQ2):c.1248-?_*(455_?)del3785KCNQ2Pathogenic-1RCV000678173; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203754262051025nana-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)3785KCNQ2Benign/Likely benignrs587780369RCV000117347|RCV000461909|RCV000678205|RCV000990327; NMedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203800362038003CA20:g.62038003C>AClinGen:CA288935C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)3785KCNQ2Pathogenicrs118192246RCV000678073; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203800662038007GGGGCCC20:g.62038006_62038007insGGCCC-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)3785KCNQ2Pathogenic/Likely pathogenicrs1555850151RCV000678204|RCV000720088|RCV001861357; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Pheno206203801262038013GGGCCCANC_000020.10:g.62038013GCCCA[3]-
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)3785KCNQ2Pathogenicrs118192245RCV000678072|RCV001008092; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202206203801962038019GCGNC_000020.10:g.62038021del-
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)3785KCNQ2Conflicting interpretations of pathogenicityrs12481082RCV000678071|RCV001209553|RCV001582491; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN517202206203805262038052GA20:g.62038052G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)3785KCNQ2Pathogenic-1RCV001004690; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203819162038191GA20:g.62038191G>A-
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)3785KCNQ2Pathogenicrs1555850403RCV000624351; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203822562038238GCTCCTCGTGGTCCAGNC_000020.10:g.62038226_62038239delClinGen:CA658799396C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)3785KCNQ2Benignrs1801475RCV000020987|RCV000082686|RCV000715330|RCV000860235|RCV001703418|RCV001730475; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN169374|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:000206203827762038277TG20:g.62038277T>GClinGen:CA285799,UniProtKB:O43526#VAR_010932C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)3785KCNQ2Pathogenicrs1555850512RCV000678203; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203829762038298GGC20:g.62038297_62038298insC-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs)3785KCNQ2Pathogenicrs2079959227RCV001290204; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203830162038301CGC62038300-
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys)3785KCNQ2Uncertain significancers1449467609RCV000636301|RCV000765491; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206203833862038338GANC_000020.10:g.62038338G>AClinGen:CA409638061C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)3785KCNQ2Benignrs1801471RCV000117346|RCV000576614|RCV000715410|RCV000860332|RCV001650959|RCV001730542; NMedGen:CN169374|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:000206203837862038378AT20:g.62038378A>TClinGen:CA153292C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)3785KCNQ2Pathogenicrs118192244RCV000007814|RCV000187948|RCV000578304|RCV001389321; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206203848962038489CACNC_000020.10:g.62038489delClinGen:CA315556,OMIM:602235.0010
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)3785KCNQ2Uncertain significancers758334927RCV000187946|RCV000545156|RCV000660450; NMedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206203851262038514GAGAG20:g.62038512_62038514delClinGen:CA315553C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)3785KCNQ2Pathogenic-1RCV001004721; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203856762038568CGTC20:g.62038567_62038568del-
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro)3785KCNQ2Uncertain significancers1326189284RCV000768248|RCV001855971; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206203858662038586CGNC_000020.10:g.62038586C>G-
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs)3785KCNQ2Pathogenicrs118192243RCV000678068; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203860162038601GCGNC_000020.10:g.62038601del-
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)3785KCNQ2Conflicting interpretations of pathogenicityrs762130930RCV000990328|RCV001038267|RCV001198062; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206203861962038619GA20:g.62038619G>A-
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs)3785KCNQ2Pathogenicrs1601545088RCV000990329; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203865962038660TTC20:g.62038659_62038660insC-
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs)3785KCNQ2Pathogenicrs118192242RCV000678066|RCV001381683; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206203866062038660TCTNC_000020.10:g.62038660del-
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)3785KCNQ2Pathogenicrs118192241RCV000678065; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203868662038686TATNC_000020.10:g.62038686del-
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg)3785KCNQ2Pathogenicrs118192240RCV000678064; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203870662038706AC20:g.62038706A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1888-3C>T3785KCNQ2Uncertain significancers772971971RCV000386526|RCV000540053|RCV000765492; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206203873162038731GA20:g.62038731G>AClinGen:CA9958203C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.1887+5G>A3785KCNQ2Uncertain significancers777916008RCV000416080|RCV000678201|RCV001313507; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206203976162039761CT20:g.62039761C>TClinGen:CA9958228C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs)3785KCNQ2Pathogenicrs1555851445RCV000678200; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203976762039797CTGCTTCTCCACCTTCCCGAGCCGTCCCATCACNC_000020.10:g.62039771_62039801del-
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)3785KCNQ2Uncertain significancers1555851550RCV000678199|RCV001508893; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202206203987062039870GA20:g.62039870G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser)3785KCNQ2Pathogenicrs118192237RCV000678063; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203988962039889TA20:g.62039889T>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1764-2A>G3785KCNQ2Pathogenicrs118192238RCV000678109; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203989162039891TC20:g.62039891T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1764-6C>A3785KCNQ2Pathogenicrs118192239RCV000678110; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206203989562039895GT20:g.62039895G>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1763+4A>G3785KCNQ2Likely pathogenic-1RCV001786543; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204479962044799TC62044799-
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)3785KCNQ2Pathogenic/Likely pathogenicrs118192235RCV000187921|RCV000416983|RCV000678062|RCV000792605; NMedGen:CN517202|Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204482462044824CT20:g.62044824C>TClinGen:CA315489C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)3785KCNQ2Pathogenicrs118192236RCV000187920|RCV000678061|RCV000636351; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204482562044825GA20:g.62044825G>AClinGen:CA315486C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)3785KCNQ2Likely pathogenicrs1057516123RCV000480958|RCV000678193|RCV001850942; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204483462044834TCNC_000020.10:g.62044834T>CClinGen:CA10654781C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)3785KCNQ2Pathogenicrs118192231RCV000415727; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204488162044882TTAGGGC20:g.62044881_62044882insAGGGCClinGen:CA340675,OMIM:602235.0003C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)3785KCNQ2Likely pathogenic-1RCV001004696; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204490362044903AG20:g.62044903A>G-
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile)3785KCNQ2Likely pathogenic-1RCV001786541; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204490362044903AT62044903-
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)3785KCNQ2Pathogenicrs267607198RCV000007813|RCV000678105|RCV001260874; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201, Orphanet:1949|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204490462044904CA20:g.62044904C>AClinGen:CA129072,UniProtKB:O43526#VAR_026993,OMIM:602235.0007C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)3785KCNQ2Pathogenicrs118192234RCV000187913|RCV000678060|RCV001248564; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204490862044908CT20:g.62044908C>TClinGen:CA315465C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)3785KCNQ2Likely pathogenicrs118192234RCV000678816; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204490862044908CG20:g.62044908C>G-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)3785KCNQ2Conflicting interpretations of pathogenicityrs759584387RCV000187912|RCV000203596|RCV000678185|RCV000706752|RCV001251207; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|Human Phenotype Ontology:HP:0001250,Human Pheno206204490962044909GA20:g.62044909G>AClinGen:CA278566C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)3785KCNQ2Pathogenic/Likely pathogenicrs796052650RCV000187911|RCV000551309|RCV000678183; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204492762044927GANC_000020.10:g.62044927G>AClinGen:CA315462C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly)3785KCNQ2Likely pathogenicrs796052650RCV000211481; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204492762044927GCNC_000020.10:g.62044927G>CClinGen:CA10576253C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)3785KCNQ2Uncertain significancers2080191127RCV001203132|RCV001838424; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204492862044928CT20:g.62044928C>T-
NM_172107.4(KCNQ2):c.1632-1G>T3785KCNQ2Benignrs118192233RCV000678108; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204493562044935CA20:g.62044935C>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1623_1631+5del3785KCNQ2Likely pathogenic-1RCV001786547; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204543662045449CCTCACCACACGGCTC62045435-
NM_172107.4(KCNQ2):c.1631+1G>A3785KCNQ2Pathogenicrs1057516121RCV000428513|RCV000678182; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204544062045440CT20:g.62045440C>TClinGen:CA10654785C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)3785KCNQ2Conflicting interpretations of pathogenicityrs1555853970RCV000578391|RCV001322734; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204545062045450CG20:g.62045450C>GClinGen:CA409645148C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter)3785KCNQ2Pathogenicrs1555853983RCV000678180; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204546362045463TA20:g.62045463T>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs)3785KCNQ2Pathogenicrs1555854036RCV000678059; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204549162045503CAAACTCGCAGGGGCNC_000020.10:g.62045491_62045503del-
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)3785KCNQ2Conflicting interpretations of pathogenicityrs117067974RCV000020972|RCV000117341|RCV000465560|RCV000717320|RCV001703417; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Hum206204552762045527CG20:g.62045527C>GClinGen:CA288924C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1525+1G>A3785KCNQ2Pathogenicrs118192228RCV000534709|RCV000678058; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204625562046255CT20:g.62046255C>TClinGen:CA342470C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)3785KCNQ2Conflicting interpretations of pathogenicityrs375264483RCV000636418|RCV000762355|RCV000765494; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204627662046276GA20:g.62046276G>AClinGen:CA315447C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)3785KCNQ2Benignrs1801545RCV000117340|RCV000576403|RCV000715363|RCV000860487|RCV001610411; NMedGen:CN169374|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:000206204627862046278GC20:g.62046278G>CClinGen:CA153290C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1420G>T (p.Glu474Ter)3785KCNQ2Pathogenicrs368130496RCV001330502|RCV001786475; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206204636162046361CA62046361-
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs)3785KCNQ2Pathogenicrs1057516117RCV000678176; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204636262046363CGACNC_000020.10:g.62046363_62046364del-
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)3785KCNQ2Pathogenic-1RCV001004668|RCV001860566; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204637062046370GA20:g.62046370G>A-
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=)3785KCNQ2Uncertain significancers771845478RCV000765495|RCV000732665|RCV001038432; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206204643462046434GA20:g.62046434G>AClinGen:CA9958468CN169374 not specified;
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)3785KCNQ2Pathogenicrs118192226RCV000020970|RCV000187902|RCV000463586|RCV000720328; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Hum206204643962046439GA20:g.62046439G>AClinGen:CA315443C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1302-1G>C3785KCNQ2Pathogenicrs118192225RCV000678107; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206204648062046480CG20:g.62046480C>G-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)3785KCNQ2Pathogenicrs118192224RCV000678057; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205098562050985GA20:g.62050985G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1247+1G>A3785KCNQ2Pathogenicrs1057516115RCV000678172; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205552962055529CTNC_000020.10:g.62055529C>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)3785KCNQ2Pathogenicrs1060499544RCV000678171; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205554462055546CCGGCNC_000020.10:g.62055544CGG[1]-
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs)3785KCNQ2Pathogenicrs886041339RCV000408251|RCV001004684; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205554862055548CGCNC_000020.10:g.62055553delClinGen:CA10603368
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)3785KCNQ2Uncertain significancers752579642RCV000530666|RCV000660441|RCV001311999; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202206205554862055548GA20:g.62055548G>AClinGen:CA9958554C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1217+2T>G3785KCNQ2Pathogenicrs118192223RCV000678056; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205971862059718AC20:g.62059718A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer)3785KCNQ2Pathogenicrs1057516114RCV000678169; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206205974162059742ACTANC_000020.10:g.62059741CT[1]-
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)3785KCNQ2Pathogenicrs118192222RCV000678055|RCV001253446; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206205974462059745CTTCNC_000020.10:g.62059744_62059745del-
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs)3785KCNQ2Likely pathogenic-1RCV001786540; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206205978262059783GGA62059782-
NM_172107.4(KCNQ2):c.1149-1G>T3785KCNQ2Likely pathogenicrs1600714727RCV000990330|RCV001217211; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206205978962059789CA20:g.62059789C>A-
NM_172107.4(KCNQ2):c.1148+2T>G3785KCNQ2Pathogenicrs118192221RCV000678104; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206269162062691AC20:g.62062691A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)3785KCNQ2Pathogenicrs1057516113RCV000678167; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206271562062715GTGNC_000020.10:g.62062717del-
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter)3785KCNQ2Likely pathogenic-1RCV001786542; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206206271862062718GA62062718-
NM_172107.4(KCNQ2):c.1118+3A>G3785KCNQ2Uncertain significancers1057516112RCV000678166|RCV002058836; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202206206515962065159TC20:g.62065159T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1118+1G>A3785KCNQ2Benignrs397507449RCV000678106; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206516162065161CTNC_000020.10:g.62065161C>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)3785KCNQ2Pathogenic-1RCV000489438|RCV001004707|RCV001070007; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206206518762065187GA20:g.62065187G>AClinGen:CA409651085CN517202 not provided;
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)3785KCNQ2Likely pathogenicrs1185859533RCV001253279; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206519162065191GC20:g.62065191G>C-
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys)3785KCNQ2Pathogenicrs1057516111RCV000678165; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206519562065195TC20:g.62065195T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)3785KCNQ2Pathogenicrs1600732174RCV001009628; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206206520062065200CT20:g.62065200C>T-
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)3785KCNQ2Pathogenicrs118192219RCV000678054|RCV000800574; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206206520462065204GT20:g.62065204G>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)3785KCNQ2Conflicting interpretations of pathogenicityrs118192219RCV001253596|RCV001295143|RCV001587291; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN517202206206520462065204GA20:g.62065204G>A-
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)3785KCNQ2Pathogenicrs1057516110RCV000678164; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206520762065207GA20:g.62065207G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)3785KCNQ2Pathogenicrs118192218RCV000678053; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206522362065223GC20:g.62065223G>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro)3785KCNQ2Pathogenicrs1057516108RCV000678161; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206522662065226AG20:g.62065226A>G-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe)3785KCNQ2Pathogenicrs1057516106RCV000678159|RCV001861356; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206206522962065229GA20:g.62065229G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)3785KCNQ2Likely pathogenicrs1057516106RCV000678158|RCV000853340; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|206206522962065229GC20:g.62065229G>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys)3785KCNQ2Likely pathogenicrs1371059392RCV000990331; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206523062065230GT20:g.62065230G>T-
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)3785KCNQ2Conflicting interpretations of pathogenicityrs2080906453RCV001252032|RCV001799751|RCV001823009; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206206523462065234GA20:g.62065234G>A-
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro)3785KCNQ2Likely pathogenic-1RCV001786539; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206206523562065235TG62065235-
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)3785KCNQ2Pathogenicrs1057516105RCV000678157; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206525062065250AG20:g.62065250A>G-C1852587 121200 Benign familial neonatal seizures 1;
GRCh37/hg19 20q13.33(chr20:62069977-62129187)3785KCNQ2Likely pathogenic-1RCV001786551; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206206997762129187nana-1-
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)3785KCNQ2Pathogenicrs118192217RCV000678052; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206206998562069985AC20:g.62069985A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)3785KCNQ2Pathogenicrs118192216RCV000413623|RCV000678102|RCV000813877; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207000362070003CT20:g.62070003C>TClinGen:CA342542,UniProtKB:O43526#VAR_026992C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)3785KCNQ2Pathogenicrs118192214RCV000678100; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207003462070034GA20:g.62070034G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)3785KCNQ2Likely pathogenic-1RCV001391231; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207004662070046TC62070046-
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe)3785KCNQ2Likely pathogenic-1RCV001800252; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207006562070065CA62070065-
NM_172107.4(KCNQ2):c.928-1G>C3785KCNQ2Pathogenicrs1057516102RCV000678153; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207007462070074CG20:g.62070074C>G-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)3785KCNQ2Pathogenicrs864321707RCV000203598|RCV000545675|RCV000763451|RCV001529826; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207096162070961GANC_000020.10:g.62070961G>AClinGen:CA347954C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)3785KCNQ2Pathogenicrs74315390RCV000007807|RCV000720474|RCV001245227|RCV001564572; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Pheno206207096262070962CT20:g.62070962C>TClinGen:CA340674,UniProtKB:O43526#VAR_010931,OMIM:602235.0002C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)3785KCNQ2Pathogenicrs1131691936RCV000496141|RCV001257437|RCV001526620; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP206207097662070976CTNC_000020.10:g.62070976C>TClinGen:CA409652525C3150986 613720 Early infantile epileptic encephalopathy 7;
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly)3785KCNQ2Pathogenicrs118192211RCV000021015; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207099762070997GCNC_000020.10:g.62070997G>CClinGen:CA342537C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)3785KCNQ2Pathogenicrs397514582RCV000032981|RCV000498787|RCV000678147; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207100962071009CT20:g.62071009C>TClinGen:CA130534,OMIM:602235.0014C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)3785KCNQ2Pathogenicrs28939683RCV000007806; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207102762071027TC20:g.62071027T>CClinGen:CA340673,UniProtKB:O43526#VAR_010930,OMIM:602235.0001C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs)3785KCNQ2Pathogenicrs118192210RCV000678097; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207103062071031TTAC20:g.62071030_62071031insAC-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val)3785KCNQ2Pathogenicrs118192209RCV000678096; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207376362073763CA20:g.62073763C>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)3785KCNQ2Pathogenicrs118192208RCV000187877|RCV000678095|RCV001050636|RCV001267035; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MeSH:D030342,MedGen:C0950123206207376862073768CT20:g.62073768C>TClinGen:CA315395C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr)3785KCNQ2Pathogenicrs777257591RCV000203593; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207380062073800CANC_000020.10:g.62073800C>AClinGen:CA278851C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)3785KCNQ2Conflicting interpretations of pathogenicityrs777257591RCV000853534|RCV001217360; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207380062073800CT20:g.62073800C>T-
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser)3785KCNQ2Pathogenicrs118192207RCV000678094; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207380262073802TC20:g.62073802T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)3785KCNQ2Likely pathogenicrs118192206RCV000678093|RCV001047068; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207382662073826AC20:g.62073826A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter)3785KCNQ2Pathogenicrs74315392RCV000678091; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207383562073835GT20:g.62073835G>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)3785KCNQ2Pathogenicrs118192205RCV000678090; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207384862073848GA20:g.62073848G>AUniProtKB:O43526#VAR_026990C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)3785KCNQ2Conflicting interpretations of pathogenicityrs796052630RCV000187871|RCV000990333; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207385962073859CA20:g.62073859C>AClinGen:CA315380CN169374 not specified;
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)3785KCNQ2Likely pathogenicrs1600767259RCV000990334; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207387662073877GGACC20:g.62073876_62073877insACC-
NM_172107.3(KCNQ2):c.(?_-177)_690+?del3785KCNQ2Pathogenic-1RCV000678112; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207601262103993nana-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)3785KCNQ2Likely pathogenicrs118192204RCV000678089|RCV001226409; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207601862076018GT20:g.62076018G>TUniProtKB:O43526#VAR_026989C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)3785KCNQ2Pathogenic-1RCV001004659; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207603362076034CAGC20:g.62076033_62076034del-
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)3785KCNQ2Likely pathogenic-1RCV001786548; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207603462076034GA62076034-
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn)3785KCNQ2Pathogenicrs1057516090RCV000678135; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207605262076052GT20:g.62076052G>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)3785KCNQ2Conflicting interpretations of pathogenicity-1RCV001004723|RCV001359461|RCV001786424; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207605262076052GA20:g.62076052G>A-
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)3785KCNQ2Uncertain significancers1057516089RCV000678134|RCV001294297; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207605362076053TCNC_000020.10:g.62076053T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro)3785KCNQ2Likely pathogenicrs1057516089RCV000990335; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207605362076053TG20:g.62076053T>G-
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)3785KCNQ2Pathogenic/Likely pathogenicrs28939684RCV000007810|RCV000790713|RCV001851725; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207606262076062GANC_000020.10:g.62076062G>AClinGen:CA245495,UniProtKB:O43526#VAR_010929,OMIM:602235.0005C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)3785KCNQ2Pathogenic/Likely pathogenic-1RCV000032979|RCV000187867|RCV000763452|RCV000698323; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS3083206207606462076064CT20:g.62076064C>TClinGen:CA130528,OMIM:602235.0012C0393706 Early infantile epileptic encephalopathy;
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)3785KCNQ2Pathogenicrs118192203RCV000178400|RCV000187866|RCV000234346|RCV000990336; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207606562076065GANC_000020.10:g.62076065G>AClinGen:CA202848C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)3785KCNQ2Pathogenicrs118192202RCV000678087|RCV001851984; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207606762076067TC20:g.62076067T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)3785KCNQ2Likely pathogenicrs118192201RCV000678086|RCV001221931; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207608062076080TC20:g.62076080T>CUniProtKB:O43526#VAR_026988C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)3785KCNQ2Pathogenic/Likely pathogenicrs118192200RCV000007815|RCV000187863|RCV000678085|RCV000763453|RCV001205287; NMedGen:C3149075|MedGen:CN517202|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C039206207608262076082CT20:g.62076082C>TUniProtKB:O43526#VAR_043819,OMIM:602235.0011,ClinGen:CA118745C3150986 613720 Early infantile epileptic encephalopathy 7;
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)3785KCNQ2Pathogenicrs74315391RCV000007811|RCV000187862|RCV000623725|RCV000678084|RCV000636312; NMedGen:C3149075|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207608362076083GA20:g.62076083G>AClinGen:CA118744,UniProtKB:O43526#VAR_026987,OMIM:602235.0006C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro)3785KCNQ2Likely pathogenicrs1339542565RCV000990337; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207608562076085AG20:g.62076085A>G-
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)3785KCNQ2Pathogenic-1RCV001786544|RCV001824180; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207608562076085AC62076085-
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)3785KCNQ2Conflicting interpretations of pathogenicityrs796052623RCV000187858|RCV000203591|RCV000679892|RCV000802499; NMedGen:CN517202|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207610162076101GA20:g.62076101G>AClinGen:CA278564C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs)3785KCNQ2Pathogenicrs1057516084RCV000678128; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207610862076110CCGT20:g.62076109_62076110del-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)3785KCNQ2Pathogenicrs796052621RCV000187856|RCV000623027|RCV000768251|RCV000807499|RCV001420283; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|206207610962076109CT20:g.62076109C>TClinGen:CA315361C0950123 Inborn genetic diseases;
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)3785KCNQ2Pathogenicrs118192199RCV000678083|RCV001030036|RCV001066784|RCV001092637; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN517202206207611562076115GA20:g.62076115G>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs)3785KCNQ2Pathogenicrs118192198RCV000678082; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207611662076117CCA20:g.62076116_62076117insA-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)3785KCNQ2Likely pathogenicrs1568940442RCV001262250|RCV001786460; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207611862076118GC20:g.62076118G>C-
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)3785KCNQ2Conflicting interpretations of pathogenicityrs796052619RCV001254894|RCV001362099; NMONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207612462076124GA20:g.62076124G>A-
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys)3785KCNQ2Likely pathogenicrs2081363302RCV001257438; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207614062076140GT20:g.62076140G>T-
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)3785KCNQ2Conflicting interpretations of pathogenicityrs1600786349RCV000997805|RCV001068618|RCV001786422; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207614962076149CT20:g.62076149C>T-
NM_172107.4(KCNQ2):c.507_514+10del3785KCNQ2Pathogenicrs2081377258RCV001254916; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207658162076598CCAGGCCTCACCAATCACAC20:g.62076581_62076598del-
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu)3785KCNQ2Pathogenicrs1057516081RCV000678122; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207662962076629CTNC_000020.10:g.62076629C>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg)3785KCNQ2Pathogenicrs1057516080RCV000678121; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207663062076630CT20:g.62076630C>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp)3785KCNQ2Pathogenicrs1057516078RCV000678118; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207664562076645AC20:g.62076645A>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)3785KCNQ2Conflicting interpretations of pathogenicity-1RCV000521018|RCV000760201|RCV001089799|RCV001266450|RCV001291707; NMedGen:CN517202|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Hum206207667562076675GA20:g.62076675G>AClinGen:CA409655455CN517202 not provided;
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)3785KCNQ2Conflicting interpretations of pathogenicityrs1600789325RCV001092638|RCV001215405|RCV001786432; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218; MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207671162076711CT20:g.62076711C>T-
NM_172107.4(KCNQ2):c.388-1_389del3785KCNQ2Pathogenicrs118192196RCV000678080; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207671662076718TTCCTNC_000020.10:g.62076717_62076719del-
NM_172107.4(KCNQ2):c.388-2A>G3785KCNQ2Likely pathogenic-1RCV001843826; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207671962076719TC62076719-
NM_172107.4(KCNQ2):c.388-26G>T3785KCNQ2Benignrs6062939RCV000829926|RCV001730713|RCV001730712; NMedGen:CN517202|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207674362076743CA20:g.62076743C>A-
NM_172107.4(KCNQ2):c.387+1G>T3785KCNQ2Pathogenicrs118192195RCV000678079; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207809962078099CA20:g.62078099C>A-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)3785KCNQ2Conflicting interpretations of pathogenicity-1RCV001786545|RCV001885202; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207810262078102GC62078102-
NM_172107.4(KCNQ2):c.367del (p.Glu123fs)3785KCNQ2Likely pathogenic-1RCV001786546; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218206207812062078120TCT62078119-
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)3785KCNQ2Pathogenic/Likely pathogenicrs118192194RCV000187851|RCV000678078|RCV000692591|RCV000763058|RCV001270883; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949; MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,O206207812262078122GA20:g.62078122G>AClinGen:CA315351C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly)3785KCNQ2Pathogenicrs118192193RCV000678077; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207813162078131TC20:g.62078131T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)3785KCNQ2Pathogenicrs1057516076RCV000678116; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207814762078147TCNC_000020.10:g.62078147T>C-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs)3785KCNQ2Pathogenicrs796052663RCV000187942|RCV000678115; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207815362078154AACANC_000020.10:g.62078154CA[1]ClinGen:CA315546
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)3785KCNQ2Pathogenicrs864321712RCV000203587|RCV000820061; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206207816862078168GA20:g.62078168G>AClinGen:CA347947C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del)3785KCNQ2Pathogenicrs118192191RCV000678075; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207817162078173CAGGC20:g.62078171_62078173del-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.297-2A>G3785KCNQ2Pathogenicrs796052615RCV000187849|RCV000678114; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206207819262078192TC20:g.62078192T>CClinGen:CA315348C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.296+1G>A3785KCNQ2Pathogenicrs118192190RCV000678103; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206210352062103520CT20:g.62103520C>T-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.232del (p.Gln78fs)3785KCNQ2Pathogenicrs118192189RCV000678070; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206210358562103585TGTNC_000020.10:g.62103585del-
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs)3785KCNQ2Pathogenicrs118192188RCV000187949|RCV000678069|RCV001851982; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206210361262103613TTG20:g.62103612_62103613insGClinGen:CA315558C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.197del (p.Lys66fs)3785KCNQ2Pathogenicrs2082235501RCV001194618; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206210362062103620CTC20:g.62103620_62103620del-
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs)3785KCNQ2Pathogenicrs118192187RCV000678088; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949206210374962103752GCCCAGNC_000020.10:g.62103751_62103754del-
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)3785KCNQ2Pathogenicrs118192186RCV000678074|RCV001057270; NMONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206210381562103815AG20:g.62103815A>G-C1852587 121200 Benign familial neonatal seizures 1;
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)3785KCNQ2Pathogenic/Likely pathogenicrs118192185RCV000421973|RCV000678067|RCV000552408; NMedGen:CN517202|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934206210381662103816TC20:g.62103816T>CClinGen:CA342485C1852587 121200 Benign familial neonatal seizures 1;
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