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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Epilepsy, Generalized (D004829)
Parent Node: Seizures, Febrile (D003294)
..Starting node ..Generalized Epilepsy With Febrile Seizures Plus, Type 2 (C565810)
Child Nodes:
Sister Nodes:
..Febrile Convulsions, Familial, 1 (C565162)
..Febrile Convulsions, Familial, 10 (C567218)
..Febrile Convulsions, Familial, 2 (C566541)
..Febrile Convulsions, Familial, 3a (C567820)
..Febrile Convulsions, Familial, 3b (C567821)
..Febrile Convulsions, Familial, 4 (C565788)
..Febrile Convulsions, Familial, 5 (C563762)
..Febrile Convulsions, Familial, 6 (C563764)
..Febrile Convulsions, Familial, 7 (C566929)
..Febrile Convulsions, Familial, 8 (C566975)
..Febrile Convulsions, Familial, 9 (C566901)
..Febrile Seizures Associated with Afebrile Seizures (C565813)
..Generalized Epilepsy with Febrile Seizures Plus (C565808)
..Generalized Epilepsy With Febrile Seizures Plus, 7 (C567827)
..Generalized Epilepsy With Febrile Seizures Plus, Type 1 (C565809)
..Generalized Epilepsy With Febrile Seizures Plus, Type 2 (C565810)
..Generalized Epilepsy With Febrile Seizures Plus, Type 3 (C565811)
..Generalized Epilepsy With Febrile Seizures Plus, Type 4 (C565227)
..Generalized Epilepsy With Febrile Seizures Plus, Type 5 (C565812)
..Generalized Epilepsy With Febrile Seizures Plus, Type 6 (C567371)
..GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 (OMIM:613828)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4551

Name:

Generalized Epilepsy With Febrile Seizures Plus, Type 2

Definition:

Alternative IDs:

OMIM:604403

ParentIDs:

MESH:D003294|MESH:D004829

TreeNumbers:

C10.228.140.490.375/C565810 |C10.228.140.490.650/C565810

Synonyms:

FEB3A, INCLUDED |GEFSP2 |GEFS, Type 2 |GEFS+, TYPE 2;GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED

Slim Mappings:

Nervous system disease

Reference:

MedGen: C565810
MeSH: C565810
OMIM: 604403;

Genes: SCN1A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0010819	Atonic seizure
4	HP:0002069	Bilateral tonic-clonic seizure
5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6	HP:0006813	Focal hemiclonic seizure
7	HP:0002123	Generalized myoclonic seizure
8	HP:0002121	Generalized non-motor (absence) seizure
9	HP:0010818	Generalized tonic seizure
10	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006920.4(SCN1A):c.5764delC (p.Arg1922Glufs)	-1	-	Pathogenic	587780446	RCV000118238;	N	MedGen:C1858673,OMIM:604403	2	166847988	166847988	NM_006920.4:c.5764delC	NP_008851.3:p.Arg1922Glufs	NC_000002.11:g.166847988delG	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.5506delC (p.Leu1836Serfs)	-1	-	Pathogenic	398123599	RCV000176630; RCV000079590;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166848246	166848246	NM_006920.4:c.5506delC	NP_008851.3:p.Leu1836Serfs	NC_000002.11:g.166848246delG	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5108T>C (p.Met1703Thr)	-1	-	Likely pathogenic	121917949	RCV000176631; RCV000079588;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166848644	166848644	NM_006920.4:c.5108T>C	NP_008851.3:p.Met1703Thr	NC_000002.11:g.166848644A>C,NC_000002.11:g.166848644A>G	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5093C>T (p.Thr1698Ile)	-1	-	Pathogenic	121918629	RCV000013754; RCV000013755;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166848659	166848659	NM_006920.4:c.5093C>T	NP_008851.3:p.Thr1698Ile	NC_000002.11:g.166848659G>A	OMIM Allelic Variant:182389.0013,UniProtKB (variants):VAR_029717	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4935C>G (p.Ile1645Met)	-1	-	Pathogenic	121917955	RCV000059433; RCV000013746;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166848817	166848817	NM_006920.4:c.4935C>G	NP_008851.3:p.Ile1645Met	NC_000002.11:g.166848817G>C	OMIM Allelic Variant:182389.0005,UniProtKB (variants):VAR_014273	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.4910G>A (p.Arg1637His)	-1	-	Pathogenic	121918622	RCV000059521; RCV000013742;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166848842	166848842	NM_006920.4:c.4910G>A	NP_008851.3:p.Arg1637His	NC_000002.11:g.166848842C>A,NC_000002.11:g.166848842C>T	OMIM Allelic Variant:182389.0001,UniProtKB (variants):VAR_010111	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4874G>A (p.Arg1625Gln)	-1	-	Likely pathogenic;Pathogenic	121917995	RCV000059431; RCV000176634; RCV000188983;	N	MedGen:C1853372,OMIM:606369; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166848878	166848878	NM_006920.4:c.4874G>A	NP_008851.3:p.Arg1625Gln	NC_000002.11:g.166848878C>T	UniProtKB (variants):VAR_043369	C1853372 606369 Epileptic encephalopathy Lennox-Gastaut type; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided
NM_006920.4(SCN1A):c.4798G>T (p.Val1600Phe)	-1	-	Pathogenic	121918630	RCV000013756; RCV000013757;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166850677	166850677	NM_006920.4:c.4798G>T	NP_008851.3:p.Val1600Phe	NC_000002.11:g.166850677C>A	OMIM Allelic Variant:182389.0014,UniProtKB (variants):VAR_029706	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4411A>C (p.Ile1471Leu)	-1	-	Likely pathogenic	794729200	RCV000184019;	N	MedGen:C1858673,OMIM:604403	2	166854580	166854580	NM_006920.4:c.4411A>C	NP_008851.3:p.Ile1471Leu	NC_000002.11:g.166854580T>G	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.4251+2T>C	-1	-	Pathogenic	398123595	RCV000176178; RCV000079583;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166858980	166858980	NM_006920.4:c.4251+2T>C		NC_000002.11:g.166858980A>G	HGMD:CS1211442	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4250T>C (p.Val1417Ala)	-1	-	Pathogenic	121918627	RCV000059508; RCV000013752;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166858983	166858983	NM_006920.4:c.4250T>C	NP_008851.3:p.Val1417Ala	NC_000002.11:g.166858983A>G	OMIM Allelic Variant:182389.0011,UniProtKB (variants):VAR_029700	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.4186C>T (p.Arg1396Ter)	-1	-	Pathogenic	398123593	RCV000176177; RCV000079581;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166859047	166859047	NM_006920.4:c.4186C>T	NP_008851.3:p.Arg1396Ter	NC_000002.11:g.166859047G>A	HGMD:CM024308	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4024G>C (p.Val1342Leu)	-1	-	Pathogenic	121917954	RCV000059409; RCV000013745;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166859209	166859209	NM_006920.4:c.4024G>C	NP_008851.3:p.Val1342Leu	NC_000002.11:g.166859209C>G	OMIM Allelic Variant:182389.0004,UniProtKB (variants):VAR_014272	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.3776A>C (p.Lys1259Thr)	-1	-	Pathogenic	121918626	RCV000059501; RCV000013751;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166868689	166868689	NM_006920.4:c.3776A>C	NP_008851.3:p.Lys1259Thr	NC_000002.11:g.166868689T>G	OMIM Allelic Variant:182389.0010,UniProtKB (variants):VAR_014271	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_001165963.1(SCN1A):c.3733C>T (p.Arg1245Ter)	-1	-	Pathogenic	727504136	RCV000153888; RCV000153889; RCV000188925;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166868765	166868765	NM_001165963.1:c.3733C>T	NP_001159435.1:p.Arg1245Ter	NC_000002.11:g.166868765G>A	HGMD:CM031739	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3613G>A (p.Glu1205Lys)	-1	-	Likely pathogenic	398123590	RCV000175286; RCV000079575;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166870313	166870313	NM_006920.4:c.3613G>A	NP_008851.3:p.Glu1205Lys	NC_000002.11:g.166870313C>T	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3577T>C (p.Trp1193Arg)	-1	-	Pathogenic	121917930	RCV000059402; RCV000013747;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166870349	166870349	NM_006920.4:c.3577T>C	NP_008851.3:p.Trp1193Arg	NC_000002.11:g.166870349A>G	OMIM Allelic Variant:182389.0006,UniProtKB (variants):VAR_014270	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.2923_2924delCT (p.Phe976Serfs)	6323	SCN1A	Pathogenic	794729207	RCV000184026;	N	MedGen:C1858673,OMIM:604403	2	166893030	166893031	NM_006920.4:c.2923_2924delCT	NP_008851.3:p.Phe976Serfs	NC_000002.11:g.166893030_166893031delAG	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.2803C>T (p.Arg935Cys)	6323	SCN1A	Pathogenic	121918775	RCV000059481; RCV000118240; RCV000189085;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166894396	166894396	NM_006920.4:c.2803C>T	NP_008851.3:p.Arg935Cys	NC_000002.11:g.166894396G>A,NC_000002.11:g.166894396G>T	UniProtKB (variants):VAR_029682	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys)	6323	SCN1A	Likely pathogenic;Pathogenic	121918788	RCV000059475; RCV000153894; RCV000188897;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166894441	166894441	NM_006920.4:c.2758C>T	NP_008851.3:p.Arg920Cys	NC_000002.11:g.166894441G>A	HGMD:CM024303,UniProtKB (variants):VAR_029678	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met)	6323	SCN1A	Pathogenic	121918623	RCV000059471; RCV000013743;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166894608	166894608	NM_006920.4:c.2591C>T	NP_008851.3:p.Thr864Met	NC_000002.11:g.166894608G>A,NC_000002.11:g.166894608G>T	OMIM Allelic Variant:182389.0002,UniProtKB (variants):VAR_010110	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.2557-2A>G	6323	SCN1A	Pathogenic	727504140	RCV000153895; RCV000153896;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166894644	166894644	NM_006920.4:c.2557-2A>G		NC_000002.11:g.166894644T>C	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2584C>T (p.Arg862Ter)	6323	SCN1A	Pathogenic	397514459	RCV000174714; RCV000174713;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166895938	166895938	NM_001165963.1:c.2584C>T	NP_001159435.1:p.Arg862Ter	NC_000002.11:g.166895938G>A,NC_000002.11:g.166895938G>C	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2543G>A (p.Arg848His)	6323	SCN1A	Pathogenic	398123588	RCV000174715; RCV000079567;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166895946	166895946	NM_006920.4:c.2543G>A	NP_008851.3:p.Arg848His	NC_000002.11:g.166895946C>T	HGMD:CM117761	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2420dupT (p.Thr808Hisfs)	6323	SCN1A	Pathogenic	786200989	RCV000153897; RCV000153898;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166896102	166896102	NM_001165963.1:c.2420dupT	NP_001159435.1:p.Thr808Hisfs	NC_000002.11:g.166896102dupA	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2181G>A (p.Trp727Ter)	6323	SCN1A	Pathogenic	786205214	RCV000170444;	N	MedGen:C1858673,OMIM:604403	2	166897942	166897942	NM_006920.4:c.2181G>A	NP_008851.3:p.Trp727Ter	NC_000002.11:g.166897942C>T	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_001165963.1(SCN1A):c.2134C>T (p.Arg712Ter)	6323	SCN1A	Pathogenic	794726730	RCV000174291; RCV000174292; RCV000188886;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166898844	166898844	NM_001165963.1:c.2134C>T	NP_001159435.1:p.Arg712Ter	NC_000002.11:g.166898844G>A	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1837C>T (p.Arg613Ter)	6323	SCN1A	Pathogenic	398123585	RCV000174048; RCV000079562;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166900385	166900385	NM_001165963.1:c.1837C>T	NP_001159435.1:p.Arg613Ter	NC_000002.11:g.166900385G>A	HGMD:CM065453	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1766A>T (p.Asp589Val)	6323	SCN1A	Likely pathogenic	398123584	RCV000174049; RCV000079560;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166900456	166900456	NM_006920.4:c.1766A>T	NP_008851.3:p.Asp589Val	NC_000002.11:g.166900456T>A	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1162delT (p.Tyr388Ilefs)	6323	SCN1A	Pathogenic	398123580	RCV000180210; RCV000079552;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166904145	166904145	NM_006920.4:c.1162delT	NP_008851.3:p.Tyr388Ilefs	NC_000002.11:g.166904145delA	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1029-1G>C	6323	SCN1A	Pathogenic	398123579	RCV000180211; RCV000079550;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403	2	166904279	166904279	NM_006920.4:c.1029-1G>C		NC_000002.11:g.166904279C>G	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.830delG (p.Cys277Leufs)	6323	SCN1A	Pathogenic	794727786	RCV000179375;	N	MedGen:C1858673,OMIM:604403	2	166908363	166908363	NM_006920.4:c.830delG	NP_008851.3:p.Cys277Leufs	NC_000002.11:g.166908363delC	-	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_001165963.1(SCN1A):c.664C>T (p.Arg222Ter)	6323	SCN1A	Pathogenic	121918624	RCV000032604; RCV000150094; RCV000188841;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166909392	166909392	NM_001165963.1:c.664C>T	NP_001159435.1:p.Arg222Ter	NC_000002.11:g.166909392G>A	HGMD:CM013787,OMIM Allelic Variant:182389.0008	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.563A>T (p.Asp188Val)	6323	SCN1A	Pathogenic	121917953	RCV000059448; RCV000013744;	N	MedGen:C1858672,OMIM:604233; MedGen:C1858673,OMIM:604403	2	166911187	166911187	NM_006920.4:c.563A>T	NP_008851.3:p.Asp188Val	NC_000002.11:g.166911187T>A	OMIM Allelic Variant:182389.0003,UniProtKB (variants):VAR_014267	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.434T>C (p.Met145Thr)	6323	SCN1A	Pathogenic	121918631	RCV000013758;	N	MedGen:C1858673,OMIM:604403	2	166912960	166912960	NM_006920.4:c.434T>C	NP_008851.3:p.Met145Thr	NC_000002.11:g.166912960A>G,NC_000002.11:g.166912960A>T	OMIM Allelic Variant:182389.0015,UniProtKB (variants):VAR_025366	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2
NM_006920.4(SCN1A):c.302G>A (p.Arg101Gln)	6323	SCN1A	Pathogenic	121917918	RCV000059400; RCV000150095; RCV000188829;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858673,OMIM:604403; MedGen:CN221809	2	166915161	166915161	NM_006920.4:c.302G>A	NP_008851.3:p.Arg101Gln	NC_000002.11:g.166915161C>T	HGMD:CM044039,UniProtKB (variants):VAR_029661	C1858673 604403 Generalized epilepsy with febrile seizures plus, type 2; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy