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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epilepsy (D004827)
..Starting node ..Epilepsies, Myoclonic (D004831)
Child Nodes:
........Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
........Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
........EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
........Epilepsy, Familial Adult Myoclonic, 3 (C567098)
........Epilepsy, Myoclonic, Benign Adult Familial, Type 1 (C563399)
........Epilepsy, Myoclonic, Benign Adult Familial, Type 2 (C564313)
........Familial encephalopathy with neuroserpin inclusion bodies (C536841)
........Feigenbaum Bergeron Richardson syndrome (C536178)
........Hydroxylysinuria (C565502)
........Myoclonic Epilepsies, Progressive (D020191) 10
........Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
........MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
........Myoclonic Epilepsy, Hartung Type (C563550)
........Myoclonic Epilepsy, Juvenile (D020190)
........Photoparoxysmal Response 3 (C563695)
........Spastic Paraplegia With Myoclonic Epilepsy (C564810)
Sister Nodes:
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Amish Infantile Epilepsy Syndrome (C563799)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Battaglia Neri syndrome (C537662)
..BETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Boudhina Yedes Khiari syndrome (C537939)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Coffin syndrome 1 (C536435)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Epilepsies, Myoclonic (D004831) 26
..Epilepsies, Partial (D004828) 26
..Epilepsy occipital calcifications (C535496)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Benign Neonatal (D020936) 13
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, Generalized (D004829) 27
..EPILEPSY, HOT WATER, 1 (OMIM:613339)
..EPILEPSY, HOT WATER, 2 (OMIM:613340)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Epilepsy, Post-Traumatic (D004834)
..Epilepsy, Reflex (D020195)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Fryns-Aftimos Syndrome (C565258)
..Gurrieri Sammito Bellussi syndrome (C537625)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Hyperekplexia and Epilepsy (C564474)
..Kifafa seizure disorder (C537708)
..Kohlschutter Tonz syndrome (C537213)
..Kuzniecky syndrome (C538091)
..Landau-Kleffner Syndrome (D018887)
..Lennox Gastaut Syndrome (D065768) 1
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Pyridoxine-dependent epilepsy (C536254)
..Ramon Syndrome (C535285)
..Retinal Degeneration and Epilepsy (C564847)
..Rud Syndrome (C535878)
..Sandhaus Ben-Ami syndrome (C537233)
..Seizures (D012640) 40
..Seizures, Febrile (D003294) 21
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Status Epilepticus (D013226) 1
..Wittwer syndrome (C536737)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3850

Name:

Epilepsies, Myoclonic

Definition:

A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).

Alternative IDs:

OMIM:607208

ParentIDs:

MESH:D004827

TreeNumbers:

C10.228.140.490.250

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: D004831
MeSH: D004831
OMIM: 607208;

Genes: SCN1A; SCN9A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0002059	Cerebral atrophy
5	HP:0100704	Cerebral visual impairment
6	HP:0200134	Epileptic encephalopathy
7	HP:0006813	Focal hemiclonic seizure
8	HP:0002384	Focal impaired awareness seizure
9	HP:0002123	Generalized myoclonic seizure
10	HP:0002121	Generalized non-motor (absence) seizure
11	HP:0001263	Global developmental delay
12	HP:0001268	Mental deterioration
13	HP:0001270	Motor delay
14	HP:0005484	Secondary microcephaly
15	HP:0002133	Status epilepticus

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_001165963.1(SCN1A):c.5780G>C (p.Arg1927Thr)	-1	-	Pathogenic	794726737	RCV000180845;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848005	166848005	NM_001165963.1:c.5780G>C	NP_001159435.1:p.Arg1927Thr	NC_000002.11:g.166848005C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5732T>C (p.Ile1911Thr)	-1	-	Likely pathogenic	121917981	RCV000059449; RCV000189020;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848020	166848020	NM_006920.4:c.5732T>C	NP_008851.3:p.Ile1911Thr	NC_000002.11:g.166848020A>G	UniProtKB (variants):VAR_064351	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile)	-1	-	not provided	121918793	RCV000059549;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848059	166848059	NM_006920.4:c.5693C>T	NP_008851.3:p.Thr1898Ile	NC_000002.11:g.166848059G>A	UniProtKB (variants):VAR_029729	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5674C>T (p.Arg1892Ter)	-1	-	Pathogenic	794726739	RCV000180848; RCV000189004;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848111	166848111	NM_001165963.1:c.5674C>T	NP_001159435.1:p.Arg1892Ter	NC_000002.11:g.166848111G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5662C>T (p.Gln1888Ter)	-1	-	Pathogenic	794726845	RCV000180975;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848123	166848123	NM_001165963.1:c.5662C>T	NP_001159435.1:p.Gln1888Ter	NC_000002.11:g.166848123G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5656C>T (p.Arg1886Ter)	-1	-	Pathogenic	779614747	RCV000180864; RCV000189014;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848129	166848129	NM_001165963.1:c.5656C>T	NP_001159435.1:p.Arg1886Ter	NC_000002.11:g.166848129G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5610G>C (p.Glu1870Asp)	-1	-	not provided	121918804	RCV000059547;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848142	166848142	NM_006920.4:c.5610G>C	NP_008851.3:p.Glu1870Asp	NC_000002.11:g.166848142C>G	UniProtKB (variants):VAR_029728	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5522T>C (p.Met1841Thr)	-1	-	Pathogenic	121918783	RCV000180879; RCV000059544;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858672,OMIM:604233	2	166848230	166848230	NM_006920.4:c.5522T>C	NP_008851.3:p.Met1841Thr	NC_000002.11:g.166848230A>G	UniProtKB (variants):VAR_029727	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; C0751122 607208 Severe myoclonic epilepsy in infancy
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_001165963.1(SCN1A):c.5536_5539delAAAC (p.Lys1846Serfs)	-1	-	Pathogenic	794726726	RCV000180834; RCV000189067;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848246	166848249	NM_001165963.1:c.5536_5539delAAAC	NP_001159435.1:p.Lys1846Serfs	NC_000002.11:g.166848246_166848249delGTTT	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5536A>T (p.Lys1846Ter)	-1	-	Pathogenic	372098964	RCV000180812;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848249	166848249	NM_001165963.1:c.5536A>T	NP_001159435.1:p.Lys1846Ter	NC_000002.11:g.166848249T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5515C>G (p.Leu1839Val)	-1	-	Pathogenic	794726801	RCV000180919;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848270	166848270	NM_001165963.1:c.5515C>G	NP_001159435.1:p.Leu1839Val	NC_000002.11:g.166848270G>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5459T>C (p.Phe1820Ser)	-1	-	not provided	121918748	RCV000059543;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848293	166848293	NM_006920.4:c.5459T>C	NP_008851.3:p.Phe1820Ser	NC_000002.11:g.166848293A>G	UniProtKB (variants):VAR_029726	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5470G>T (p.Glu1824Ter)	-1	-	Pathogenic	794726769	RCV000180885;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848315	166848315	NM_001165963.1:c.5470G>T	NP_001159435.1:p.Glu1824Ter	NC_000002.11:g.166848315C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5461C>T (p.Gln1821Ter)	-1	-	Pathogenic	794726781	RCV000180897;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848324	166848324	NM_001165963.1:c.5461C>T	NP_001159435.1:p.Gln1821Ter	NC_000002.11:g.166848324G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5436G>A (p.Trp1812Ter)	-1	-	Pathogenic	863225037	RCV000201173;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848349	166848349	NM_001165963.1:c.5436G>A	NP_001159435.1:p.Trp1812Ter	NC_000002.11:g.166848349C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5389T>C (p.Phe1797Leu)	-1	-	not provided	121918757	RCV000059541;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848363	166848363	NM_006920.4:c.5389T>C	NP_008851.3:p.Phe1797Leu	NC_000002.11:g.166848363A>G	UniProtKB (variants):VAR_029723	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5404G>T (p.Glu1802Ter)	-1	-	Pathogenic	794726780	RCV000180896;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848381	166848381	NM_001165963.1:c.5404G>T	NP_001159435.1:p.Glu1802Ter	NC_000002.11:g.166848381C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5326G>A (p.Glu1776Lys)	-1	-	not provided	121917916	RCV000059447;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848426	166848426	NM_006920.4:c.5326G>A	NP_008851.3:p.Glu1776Lys	NC_000002.11:g.166848426C>T	UniProtKB (variants):VAR_064330	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5349_5352dupGGTC (p.Ile1785Glyfs)	-1	-	Pathogenic	794726741	RCV000180850;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848433	166848436	NM_001165963.1:c.5349_5352dupGGTC	NP_001159435.1:p.Ile1785Glyfs	NC_000002.11:g.166848433_166848436dupGACC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5315C>T (p.Ala1772Val)	-1	-	Pathogenic	121917921	RCV000059446; RCV000189000;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848437	166848437	NM_006920.4:c.5315C>T	NP_008851.3:p.Ala1772Val	NC_000002.11:g.166848437G>A	UniProtKB (variants):VAR_064345	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5314G>A (p.Ala1772Thr)	-1	-	Pathogenic	121917980	RCV000059445; RCV000188999;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848438	166848438	NM_006920.4:c.5314G>A	NP_008851.3:p.Ala1772Thr	NC_000002.11:g.166848438C>T	UniProtKB (variants):VAR_064275	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5313C>G (p.Ile1771Met)	-1	-	Pathogenic	121918763	RCV000059539;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848439	166848439	NM_006920.4:c.5313C>G	NP_008851.3:p.Ile1771Met	NC_000002.11:g.166848439G>A,NC_000002.11:g.166848439G>C	UniProtKB (variants):VAR_064274	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5309A>G (p.Tyr1770Cys)	-1	-	not provided	121918779	RCV000059537;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848443	166848443	NM_006920.4:c.5309A>G	NP_008851.3:p.Tyr1770Cys	NC_000002.11:g.166848443T>C	UniProtKB (variants):VAR_029721	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5306T>C (p.Met1769Thr)	-1	-	not provided	121917952	RCV000059444;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848446	166848446	NM_006920.4:c.5306T>C	NP_008851.3:p.Met1769Thr	NC_000002.11:g.166848446A>G	UniProtKB (variants):VAR_029720	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5334delG (p.Asn1779Thrfs)	-1	-	Pathogenic	794726783	RCV000180899;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848451	166848451	NM_001165963.1:c.5334delG	NP_001159435.1:p.Asn1779Thrfs	NC_000002.11:g.166848451delC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5285C>T (p.Ser1762Phe)	-1	-	not provided	121917951	RCV000059443;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848467	166848467	NM_006920.4:c.5285C>T	NP_008851.3:p.Ser1762Phe	NC_000002.11:g.166848467G>A	UniProtKB (variants):VAR_064329	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5297_5298delTT (p.Phe1766Cysfs)	-1	-	Pathogenic	794726832	RCV000180959;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848487	166848488	NM_001165963.1:c.5297_5298delTT	NP_001159435.1:p.Phe1766Cysfs	NC_000002.11:g.166848487_166848488delAA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5284_5291dupGGAATTTT (p.Phe1764Leufs)	-1	-	Pathogenic	794726814	RCV000180939;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848494	166848501	NM_001165963.1:c.5284_5291dupGGAATTTT	NP_001159435.1:p.Phe1764Leufs	NC_000002.11:g.166848494_166848501dupAAAATTCC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5252G>A (p.Gly1751Glu)	-1	-	not provided	121917950	RCV000059442;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848500	166848500	NM_006920.4:c.5252G>A	NP_008851.3:p.Gly1751Glu	NC_000002.11:g.166848500C>T	UniProtKB (variants):VAR_064328	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5233T>G (p.Cys1745Gly)	-1	-	not provided	121918809	RCV000059535;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848519	166848519	NM_006920.4:c.5233T>G	NP_008851.3:p.Cys1745Gly	NC_000002.11:g.166848519A>C	UniProtKB (variants):VAR_064273	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5264A>G (p.Asp1755Gly)	-1	-	Pathogenic	794726722	RCV000180829;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848521	166848521	NM_001165963.1:c.5264A>G	NP_001159435.1:p.Asp1755Gly	NC_000002.11:g.166848521T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)	-1	-	Pathogenic	794726703	RCV000180805;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848533	166848535	NM_001165963.1:c.5250_5252delCTC	NP_001159435.1:p.Ser1750_Ser1751delinsArg	NC_000002.11:g.166848533_166848535delGAG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5250_5251insGG (p.Ser1751Glyfs)	-1	-	Pathogenic	794726702	RCV000180804;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848534	166848535	NM_001165963.1:c.5250_5251insGG	NP_001159435.1:p.Ser1751Glyfs	NC_000002.11:g.166848534_166848535insCC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5213G>A (p.Gly1738Glu)	-1	-	not provided	121918798	RCV000059534;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848539	166848539	NM_006920.4:c.5213G>A	NP_008851.3:p.Gly1738Glu	NC_000002.11:g.166848539C>T	UniProtKB (variants):VAR_029718	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5222G>A (p.Cys1741Tyr)	-1	-	Pathogenic	794726763	RCV000180878; RCV000188996;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848563	166848563	NM_001165963.1:c.5222G>A	NP_001159435.1:p.Cys1741Tyr	NC_000002.11:g.166848563C>T	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5143T>C (p.Trp1715Arg)	-1	-	not provided	121917979	RCV000059813;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848609	166848609	NM_006920.4:c.5143T>C	NP_008851.3:p.Trp1715Arg	NC_000002.11:g.166848609A>G	UniProtKB (variants):VAR_064272	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5129C>G (p.Thr1710Arg)	-1	-	not provided	121917978	RCV000059441;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848623	166848623	NM_006920.4:c.5129C>G	NP_008851.3:p.Thr1710Arg	NC_000002.11:g.166848623G>C,NC_000002.11:g.166848623G>T	UniProtKB (variants):VAR_064350	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5113T>C (p.Cys1705Arg)	-1	-	Pathogenic	121917926	RCV000059440; RCV000188987;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848639	166848639	NM_006920.4:c.5113T>C	NP_008851.3:p.Cys1705Arg	NC_000002.11:g.166848639A>G	UniProtKB (variants):VAR_064327	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5108T>G (p.Met1703Arg)	-1	-	not provided	121917949	RCV000059439;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848644	166848644	NM_006920.4:c.5108T>G	NP_008851.3:p.Met1703Arg	NC_000002.11:g.166848644A>C,NC_000002.11:g.166848644A>G	UniProtKB (variants):VAR_064326	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.5105G>A (p.Ser1702Asn)	-1	-	not provided	121918816	RCV000059531;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848647	166848647	NM_006920.4:c.5105G>A	NP_008851.3:p.Ser1702Asn	NC_000002.11:g.166848647C>T	UniProtKB (variants):VAR_064325	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.5086T>G (p.Phe1696Val)	-1	-	not provided	121917977	RCV000059438;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848666	166848666	NM_006920.4:c.5086T>G	NP_008851.3:p.Phe1696Val	NC_000002.11:g.166848666A>C	UniProtKB (variants):VAR_064349	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5108A>T (p.Asp1703Val)	-1	-	Pathogenic	794726802	RCV000180920;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848677	166848677	NM_001165963.1:c.5108A>T	NP_001159435.1:p.Asp1703Val	NC_000002.11:g.166848677T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5106T>A (p.Asp1702Glu)	-1	-	Pathogenic	794726804	RCV000180924;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848679	166848679	NM_001165963.1:c.5106T>A	NP_001159435.1:p.Asp1702Glu	NC_000002.11:g.166848679A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5082T>G (p.Tyr1694Ter)	-1	-	Pathogenic	794726748	RCV000180859;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848703	166848703	NM_001165963.1:c.5082T>G	NP_001159435.1:p.Tyr1694Ter	NC_000002.11:g.166848703A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5048A>G (p.Tyr1683Cys)	-1	-	not provided	121918777	RCV000059530;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848704	166848704	NM_006920.4:c.5048A>G	NP_008851.3:p.Tyr1683Cys	NC_000002.11:g.166848704T>C	UniProtKB (variants):VAR_029713	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5042T>C (p.Phe1681Ser)	-1	-	not provided	121918778	RCV000059529;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848710	166848710	NM_006920.4:c.5042T>C	NP_008851.3:p.Phe1681Ser	NC_000002.11:g.166848710A>G	UniProtKB (variants):VAR_029716	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5063G>T (p.Gly1688Val)	-1	-	Pathogenic	794726851	RCV000180982;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848722	166848722	NM_001165963.1:c.5063G>T	NP_001159435.1:p.Gly1688Val	NC_000002.11:g.166848722C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.5021C>A (p.Ala1674Asp)	-1	-	not provided	121918744	RCV000059527;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848731	166848731	NM_006920.4:c.5021C>A	NP_008851.3:p.Ala1674Asp	NC_000002.11:g.166848731G>A,NC_000002.11:g.166848731G>T	UniProtKB (variants):VAR_029714	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4987G>C (p.Gly1663Arg)	-1	-	not provided	121918792	RCV000059526;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848765	166848765	NM_006920.4:c.4987G>C	NP_008851.3:p.Gly1663Arg	NC_000002.11:g.166848765C>G	UniProtKB (variants):VAR_029712	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5014A>C (p.Asn1672His)	-1	-	Pathogenic	794726740	RCV000180849;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848771	166848771	NM_001165963.1:c.5014A>C	NP_001159435.1:p.Asn1672His	NC_000002.11:g.166848771T>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5010_5013delGTTT (p.Phe1671Thrfs)	-1	-	Pathogenic	794726754	RCV000180866; RCV000189065;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848772	166848775	NM_001165963.1:c.5010_5013delGTTT	NP_001159435.1:p.Phe1671Thrfs	NC_000002.11:g.166848772_166848775delAAAC	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4973C>A (p.Ala1658Glu)	-1	-	Pathogenic	397514458	RCV000022764;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848779	166848779	NM_006920.4:c.4973C>A	NP_008851.3:p.Ala1658Glu	NC_000002.11:g.166848779G>T	OMIM Allelic Variant:182389.0023	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5003C>G (p.Pro1668Arg)	-1	-	Pathogenic	794726698	RCV000180799;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848782	166848782	NM_001165963.1:c.5003C>G	NP_001159435.1:p.Pro1668Arg	NC_000002.11:g.166848782G>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.5003delC (p.Pro1668Leufs)	-1	-	Pathogenic	794726758	RCV000180871;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848782	166848782	NM_001165963.1:c.5003delC	NP_001159435.1:p.Pro1668Leufs	NC_000002.11:g.166848782delG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4969C>G (p.Pro1657Ala)	-1	-	not provided	121917948	RCV000059436;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848783	166848783	NM_006920.4:c.4969C>G	NP_008851.3:p.Pro1657Ala	NC_000002.11:g.166848783G>C	UniProtKB (variants):VAR_029711	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe)	-1	-	Pathogenic	794726760	RCV000180874;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848788	166848788	NM_001165963.1:c.4997C>T	NP_001159435.1:p.Ser1666Phe	NC_000002.11:g.166848788G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4993_4996dupATGT (p.Ser1666Tyrfs)	-1	-	Pathogenic	794726819	RCV000180944;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848789	166848792	NM_001165963.1:c.4993_4996dupATGT	NP_001159435.1:p.Ser1666Tyrfs	NC_000002.11:g.166848789_166848792dupACAT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4958T>A (p.Met1653Lys)	-1	-	not provided	121918765	RCV000059525;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848794	166848794	NM_006920.4:c.4958T>A	NP_008851.3:p.Met1653Lys	NC_000002.11:g.166848794A>T	UniProtKB (variants):VAR_064271	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4985C>T (p.Ala1662Val)	-1	-	Pathogenic	794726839	RCV000180967;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848800	166848800	NM_001165963.1:c.4985C>T	NP_001159435.1:p.Ala1662Val	NC_000002.11:g.166848800G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4949T>C (p.Phe1650Ser)	-1	-	not provided	121918797	RCV000059524;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848803	166848803	NM_006920.4:c.4949T>C	NP_008851.3:p.Phe1650Ser	NC_000002.11:g.166848803A>G	UniProtKB (variants):VAR_029710	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4940C>G (p.Thr1647Arg)	-1	-	not provided	121917922	RCV000059435;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848812	166848812	NM_006920.4:c.4940C>G	NP_008851.3:p.Thr1647Arg	NC_000002.11:g.166848812G>A,NC_000002.11:g.166848812G>C	UniProtKB (variants):VAR_064323	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4940C>T (p.Thr1647Met)	-1	-	Pathogenic	121917922	RCV000059523;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848812	166848812	NM_006920.4:c.4940C>T	NP_008851.3:p.Thr1647Met	NC_000002.11:g.166848812G>A,NC_000002.11:g.166848812G>C	UniProtKB (variants):VAR_064270	C0751122 607208 Severe myoclonic epilepsy in infancy
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.4909C>T (p.Arg1637Cys)	-1	-	Pathogenic	121918791	RCV000059520;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848843	166848843	NM_006920.4:c.4909C>T	NP_008851.3:p.Arg1637Cys	NC_000002.11:g.166848843G>A	UniProtKB (variants):VAR_029708	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4901G>A (p.Arg1634Gln)	-1	-	Pathogenic	121917976	RCV000059432; RCV000188986;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848851	166848851	NM_006920.4:c.4901G>A	NP_008851.3:p.Arg1634Gln	NC_000002.11:g.166848851C>G,NC_000002.11:g.166848851C>T	UniProtKB (variants):VAR_064269	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4934G>C (p.Arg1645Pro)	-1	-	Pathogenic	121917976	RCV000180961;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848851	166848851	NM_001165963.1:c.4934G>C	NP_001159435.1:p.Arg1645Pro	NC_000002.11:g.166848851C>G,NC_000002.11:g.166848851C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4933C>T (p.Arg1645Ter)	-1	-	Pathogenic	794726759	RCV000180873;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848852	166848852	NM_001165963.1:c.4933C>T	NP_001159435.1:p.Arg1645Ter	NC_000002.11:g.166848852G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4906C>T (p.Arg1636Ter)	-1	-	Pathogenic	199727342	RCV000180823; RCV000188982;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848879	166848879	NM_001165963.1:c.4906C>T	NP_001159435.1:p.Arg1636Ter	NC_000002.11:g.166848879G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4861C>T (p.Pro1621Ser)	-1	-	not provided	121918755	RCV000059518;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848891	166848891	NM_006920.4:c.4861C>T	NP_008851.3:p.Pro1621Ser	NC_000002.11:g.166848891G>A	UniProtKB (variants):VAR_029707	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4855G>A (p.Val1619Met)	-1	-	Likely pathogenic	121917914	RCV000059430; RCV000188981;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166848897	166848897	NM_006920.4:c.4855G>A	NP_008851.3:p.Val1619Met	NC_000002.11:g.166848897C>T	UniProtKB (variants):VAR_064321	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4879_4883dupAAGTA (p.Tyr1628Terfs)	-1	-	Pathogenic	794726701	RCV000180803;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166848902	166848906	NM_001165963.1:c.4879_4883dupAAGTA	NP_001159435.1:p.Tyr1628Terfs	NC_000002.11:g.166848902_166848906dupTACTT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4801G>A (p.Val1601Ile)	-1	-	not provided	121918808	RCV000059517;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850674	166850674	NM_006920.4:c.4801G>A	NP_008851.3:p.Val1601Ile	NC_000002.11:g.166850674C>T	UniProtKB (variants):VAR_064267	C0751122 607208 Severe myoclonic epilepsy in infancy
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_001165963.1(SCN1A):c.4829_4830dupTG (p.Val1611Trpfs)	-1	-	Pathogenic	794726850	RCV000180981;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850678	166850679	NM_001165963.1:c.4829_4830dupTG	NP_001159435.1:p.Val1611Trpfs	NC_000002.11:g.166850678_166850679dupCA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4823delA (p.Asp1608Valfs)	-1	-	Pathogenic	794726785	RCV000180901;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850685	166850685	NM_001165963.1:c.4823delA	NP_001159435.1:p.Asp1608Valfs	NC_000002.11:g.166850685delT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4789G>T (p.Asp1597Tyr)	-1	-	Pathogenic	121917915	RCV000059428;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850686	166850686	NM_006920.4:c.4789G>T	NP_008851.3:p.Asp1597Tyr	NC_000002.11:g.166850686C>A	UniProtKB (variants):VAR_064320	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4811G>A (p.Trp1604Ter)	-1	-	Pathogenic	794726800	RCV000180918;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850697	166850697	NM_001165963.1:c.4811G>A	NP_001159435.1:p.Trp1604Ter	NC_000002.11:g.166850697C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4766T>G (p.Val1589Gly)	-1	-	Pathogenic	764037830	RCV000180954;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850742	166850742	NM_001165963.1:c.4766T>G	NP_001159435.1:p.Val1589Gly	NC_000002.11:g.166850742A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4729T>C (p.Cys1577Arg)	-1	-	Pathogenic	121917919	RCV000059426; RCV000188974;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166850746	166850746	NM_006920.4:c.4729T>C	NP_008851.3:p.Cys1577Arg	NC_000002.11:g.166850746A>G	UniProtKB (variants):VAR_064319	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4724G>A (p.Gly1575Glu)	-1	-	Pathogenic	121918742	RCV000059516;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850751	166850751	NM_006920.4:c.4724G>A	NP_008851.3:p.Gly1575Glu	NC_000002.11:g.166850751C>T	UniProtKB (variants):VAR_064266	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4611_4645dup35 (p.Ile1549Thrfs)	-1	-	Pathogenic	794726757	RCV000180870;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850863	166850897	NM_001165963.1:c.4611_4645dup35	NP_001159435.1:p.Ile1549Thrfs	NC_000002.11:g.166850863_166850897dup35	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4600A>G (p.Ile1534Val)	-1	-	not provided	121917975	RCV000059425;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166850875	166850875	NM_006920.4:c.4600A>G	NP_008851.3:p.Ile1534Val	NC_000002.11:g.166850875T>C	UniProtKB (variants):VAR_064265	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4573C>T (p.Arg1525Ter)	-1	-	Pathogenic	794726752	RCV000180863; RCV000188962;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166852531	166852531	NM_001165963.1:c.4573C>T	NP_001159435.1:p.Arg1525Ter	NC_000002.11:g.166852531G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4554delA (p.Lys1518Asnfs)	-1	-	Pathogenic	794726825	RCV000180950;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852550	166852550	NM_001165963.1:c.4554delA	NP_001159435.1:p.Lys1518Asnfs	NC_000002.11:g.166852550delT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4549A>T (p.Lys1517Ter)	-1	-	Pathogenic	794726835	RCV000180963;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852555	166852555	NM_001165963.1:c.4549A>T	NP_001159435.1:p.Lys1517Ter	NC_000002.11:g.166852555T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4514C>T (p.Ser1505Leu)	-1	-	Uncertain significance	139300715	RCV000209885;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852557	166852557	NM_006920.4:c.4514C>T	NP_008851.3:p.Ser1505Leu		-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4547C>G (p.Ser1516Trp)	-1	-	Pathogenic	139300715	RCV000180875;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852557	166852557	NM_001165963.1:c.4547C>G	NP_001159435.1:p.Ser1516Trp	NC_000002.11:g.166852557G>C,NC_000002.11:g.166852557G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4508T>C (p.Leu1503Ser)	-1	-	not provided	121918764	RCV000059514;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852563	166852563	NM_006920.4:c.4508T>C	NP_008851.3:p.Leu1503Ser	NC_000002.11:g.166852563A>G	UniProtKB (variants):VAR_064264	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4477-2A>G	-1	-	Pathogenic	863225036	RCV000201155;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166852629	166852629	NM_001165963.1:c.4477-2A>G		NC_000002.11:g.166852629T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4476+1A>G	-1	-	Pathogenic	796053014	RCV000201073; RCV000188953;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166854547	166854547	NM_001165963.1:c.4476+1A>G		NC_000002.11:g.166854547T>A,NC_000002.11:g.166854547T>C	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4391T>C (p.Leu1464Ser)	-1	-	not provided	121917947	RCV000059422;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854600	166854600	NM_006920.4:c.4391T>C	NP_008851.3:p.Leu1464Ser	NC_000002.11:g.166854600A>G	UniProtKB (variants):VAR_064317	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4412C>T (p.Ser1471Phe)	-1	-	Pathogenic	794726809	RCV000180931;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854612	166854612	NM_001165963.1:c.4412C>T	NP_001159435.1:p.Ser1471Phe	NC_000002.11:g.166854612G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4375G>T (p.Gly1459Trp)	-1	-	not provided	121917924	RCV000059421;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854616	166854616	NM_006920.4:c.4375G>T	NP_008851.3:p.Gly1459Trp	NC_000002.11:g.166854616C>A	UniProtKB (variants):VAR_064316	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4355T>C (p.Phe1452Ser)	-1	-	not provided	121917946	RCV000059420;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854636	166854636	NM_006920.4:c.4355T>C	NP_008851.3:p.Phe1452Ser	NC_000002.11:g.166854636A>G	UniProtKB (variants):VAR_029704	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4352A>G (p.Tyr1451Cys)	-1	-	Pathogenic	121917962	RCV000059419; RCV000188952;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166854639	166854639	NM_006920.4:c.4352A>G	NP_008851.3:p.Tyr1451Cys	NC_000002.11:g.166854639T>C	UniProtKB (variants):VAR_043365	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4348C>A (p.Leu1450Ile)	-1	-	not provided	121918772	RCV000059513;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854643	166854643	NM_006920.4:c.4348C>A	NP_008851.3:p.Leu1450Ile	NC_000002.11:g.166854643G>T	UniProtKB (variants):VAR_029703	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4319C>T (p.Pro1440Leu)	-1	-	not provided	121917945	RCV000059418;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854672	166854672	NM_006920.4:c.4319C>T	NP_008851.3:p.Pro1440Leu	NC_000002.11:g.166854672G>A	UniProtKB (variants):VAR_064315	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4351C>A (p.Pro1451Thr)	-1	-	Pathogenic	794726696	RCV000180797;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854673	166854673	NM_001165963.1:c.4351C>A	NP_001159435.1:p.Pro1451Thr	NC_000002.11:g.166854673G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4316A>G (p.Gln1439Arg)	-1	-	not provided	121918790	RCV000059512;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854675	166854675	NM_006920.4:c.4316A>G	NP_008851.3:p.Gln1439Arg	NC_000002.11:g.166854675T>C	UniProtKB (variants):VAR_029702	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4315C>A (p.Gln1439Lys)	-1	-	not provided	121918806	RCV000059511;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166854676	166854676	NM_006920.4:c.4315C>A	NP_008851.3:p.Gln1439Lys	NC_000002.11:g.166854676G>T	UniProtKB (variants):VAR_064263	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4338+4A>C	-1	-	Pathogenic	794726734	RCV000180842;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856229	166856229	NM_001165963.1:c.4338+4A>C		NC_000002.11:g.166856229T>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4288G>C (p.Ala1430Pro)	-1	-	not provided	121917974	RCV000059417;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856250	166856250	NM_006920.4:c.4288G>C	NP_008851.3:p.Ala1430Pro	NC_000002.11:g.166856250C>G	UniProtKB (variants):VAR_064348	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4302G>A (p.Trp1434Ter)	-1	-	Pathogenic	794726699	RCV000180800;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856269	166856269	NM_001165963.1:c.4302G>A	NP_001159435.1:p.Trp1434Ter	NC_000002.11:g.166856269C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4267T>C (p.Trp1423Arg)	-1	-	not provided	121918789	RCV000059510;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856271	166856271	NM_006920.4:c.4267T>C	NP_008851.3:p.Trp1423Arg	NC_000002.11:g.166856271A>G	UniProtKB (variants):VAR_029701	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4265G>A (p.Gly1422Glu)	-1	-	Pathogenic	121918741	RCV000059509;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856273	166856273	NM_006920.4:c.4265G>A	NP_008851.3:p.Gly1422Glu	NC_000002.11:g.166856273C>T	UniProtKB (variants):VAR_064261	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4264G>A (p.Gly1422Arg)	-1	-	not provided	121917908	RCV000059416;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166856274	166856274	NM_006920.4:c.4264G>A	NP_008851.3:p.Gly1422Arg	NC_000002.11:g.166856274C>G,NC_000002.11:g.166856274C>T	UniProtKB (variants):VAR_064262	C0751122 607208 Severe myoclonic epilepsy in infancy
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.4244T>G (p.Leu1415Arg)	-1	-	not provided	121917944	RCV000059415;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166858989	166858989	NM_006920.4:c.4244T>G	NP_008851.3:p.Leu1415Arg	NC_000002.11:g.166858989A>C	UniProtKB (variants):VAR_064314	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4266T>A (p.Tyr1422Ter)	-1	-	Pathogenic	863225035	RCV000201009;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859000	166859000	NM_001165963.1:c.4266T>A	NP_001159435.1:p.Tyr1422Ter	NC_000002.11:g.166859000A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4232A>G (p.Tyr1411Cys)	-1	-	not provided	121917913	RCV000059414;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859001	166859001	NM_006920.4:c.4232A>G	NP_008851.3:p.Tyr1411Cys	NC_000002.11:g.166859001T>C	UniProtKB (variants):VAR_064313	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4244_4245delTT (p.Phe1415Terfs)	-1	-	Pathogenic	794726705	RCV000180808;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859021	166859022	NM_001165963.1:c.4244_4245delTT	NP_001159435.1:p.Phe1415Terfs	NC_000002.11:g.166859021_166859022delAA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4207A>T (p.Asn1403Tyr)	-1	-	not provided	121917925	RCV000059413;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859026	166859026	NM_006920.4:c.4207A>T	NP_008851.3:p.Asn1403Tyr	NC_000002.11:g.166859026T>A	UniProtKB (variants):VAR_064312	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4191G>A (p.Trp1397Ter)	-1	-	Pathogenic	794727337	RCV000176175;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859042	166859042	NM_006920.4:c.4191G>A	NP_008851.3:p.Trp1397Ter	NC_000002.11:g.166859042C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4223G>A (p.Trp1408Ter)	-1	-	Pathogenic	794726784	RCV000180900;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859043	166859043	NM_001165963.1:c.4223G>A	NP_001159435.1:p.Trp1408Ter	NC_000002.11:g.166859043C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
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_001165963.1(SCN1A):c.4188C>A (p.Cys1396Ter)	-1	-	Pathogenic	794726745	RCV000180855;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859078	166859078	NM_001165963.1:c.4188C>A	NP_001159435.1:p.Cys1396Ter	NC_000002.11:g.166859078G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4153T>G (p.Cys1385Gly)	-1	-	not provided	121917987	RCV000059412;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859080	166859080	NM_006920.4:c.4153T>G	NP_008851.3:p.Cys1385Gly	NC_000002.11:g.166859080A>C	UniProtKB (variants):VAR_064260	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4135G>A (p.Val1379Met)	-1	-	Pathogenic	121917986	RCV000059411;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859098	166859098	NM_006920.4:c.4135G>A	NP_008851.3:p.Val1379Met	NC_000002.11:g.166859098C>G,NC_000002.11:g.166859098C>T	UniProtKB (variants):VAR_029699	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4168G>C (p.Val1390Leu)	-1	-	Pathogenic	121917986	RCV000180970;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859098	166859098	NM_001165963.1:c.4168G>C	NP_001159435.1:p.Val1390Leu	NC_000002.11:g.166859098C>G,NC_000002.11:g.166859098C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4068T>A (p.Asn1356Lys)	-1	-	not provided	121918760	RCV000059507;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859165	166859165	NM_006920.4:c.4068T>A	NP_008851.3:p.Asn1356Lys	NC_000002.11:g.166859165A>T	UniProtKB (variants):VAR_064259	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4088T>A (p.Ile1363Asn)	-1	-	Pathogenic	794726707	RCV000180810;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859178	166859178	NM_001165963.1:c.4088T>A	NP_001159435.1:p.Ile1363Asn	NC_000002.11:g.166859178A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4086C>G (p.Ser1362Arg)	-1	-	Pathogenic	794726779	RCV000180895;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859180	166859180	NM_001165963.1:c.4086C>G	NP_001159435.1:p.Ser1362Arg	NC_000002.11:g.166859180G>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4040G>C (p.Trp1347Ser)	-1	-	not provided	121917961	RCV000059410;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859193	166859193	NM_006920.4:c.4040G>C	NP_008851.3:p.Trp1347Ser	NC_000002.11:g.166859193C>G	UniProtKB (variants):VAR_043363	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.4031T>C (p.Leu1344Pro)	-1	-	not provided	121918776	RCV000059505;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859202	166859202	NM_006920.4:c.4031T>C	NP_008851.3:p.Leu1344Pro	NC_000002.11:g.166859202A>G	UniProtKB (variants):VAR_029697	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4055T>C (p.Leu1352Pro)	-1	-	Pathogenic	794726821	RCV000180946;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859211	166859211	NM_001165963.1:c.4055T>C	NP_001159435.1:p.Leu1352Pro	NC_000002.11:g.166859211A>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4044G>A (p.Met1348Ile)	-1	-	Pathogenic	794726822	RCV000180947;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859222	166859222	NM_001165963.1:c.4044G>A	NP_001159435.1:p.Met1348Ile	NC_000002.11:g.166859222C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.4016C>T (p.Ala1339Val)	-1	-	Pathogenic	794726789	RCV000180905;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859250	166859250	NM_001165963.1:c.4016C>T	NP_001159435.1:p.Ala1339Val	NC_000002.11:g.166859250G>A,NC_000002.11:g.166859250G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3970G>A (p.Val1324Met)	-1	-	Pathogenic	121917960	RCV000059408;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166859263	166859263	NM_006920.4:c.3970G>A	NP_008851.3:p.Val1324Met	NC_000002.11:g.166859263C>T	UniProtKB (variants):VAR_043362	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3969+2451G>C	-1	-	Uncertain significance	869312684	RCV000209951;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166863778	166863778	NM_006920.4:c.3969+2451G>C		NC_000002.11:g.166863778C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3985C>T (p.Arg1329Ter)	-1	-	Pathogenic	796053004	RCV000201135; RCV000188938;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166866246	166866246	NM_001165963.1:c.3985C>T	NP_001159435.1:p.Arg1329Ter	NC_000002.11:g.166866246G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3943G>C (p.Ala1315Pro)	-1	-	not provided	121918803	RCV000059504;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166866255	166866255	NM_006920.4:c.3943G>C	NP_008851.3:p.Ala1315Pro	NC_000002.11:g.166866255C>G	UniProtKB (variants):VAR_029698	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3970_3971dupCT (p.Arg1325Terfs)	-1	-	Pathogenic	794726723	RCV000180830;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166866260	166866261	NM_001165963.1:c.3970_3971dupCT	NP_001159435.1:p.Arg1325Terfs	NC_000002.11:g.166866260_166866261dupAG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp)	-1	-	Uncertain significance	121917910	RCV000059407; RCV000118242; RCV000188828;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374; MedGen:CN221809	2	166866307	166866307	NM_006920.4:c.3891A>T	NP_008851.3:p.Glu1297Asp	NC_000002.11:g.166866307T>A	HGMD:CM093375,UniProtKB (variants):VAR_064257	CN221809 not provided; CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3899C>G (p.Thr1300Arg)	-1	-	Pathogenic	146878122	RCV000180922;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166866332	166866332	NM_001165963.1:c.3899C>G	NP_001159435.1:p.Thr1300Arg	NC_000002.11:g.166866332G>A,NC_000002.11:g.166866332G>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3880-2A>G	-1	-	Pathogenic	794726816	RCV000180941;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166866353	166866353	NM_001165963.1:c.3880-2A>G		NC_000002.11:g.166866353T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3879+1G>T	-1	-	Pathogenic	794726700	RCV000180801;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868618	166868618	NM_001165963.1:c.3879+1G>T		NC_000002.11:g.166868618C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3827T>C (p.Leu1276Pro)	-1	-	Pathogenic	121918740	RCV000059502;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868638	166868638	NM_006920.4:c.3827T>C	NP_008851.3:p.Leu1276Pro	NC_000002.11:g.166868638A>G	UniProtKB (variants):VAR_064256	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3858G>A (p.Trp1286Ter)	-1	-	Pathogenic	794726853	RCV000180985;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868640	166868640	NM_001165963.1:c.3858G>A	NP_001159435.1:p.Trp1286Ter	NC_000002.11:g.166868640C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3852delG (p.Trp1284Cysfs)	-1	-	Pathogenic	863225034	RCV000201064;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868646	166868646	NM_001165963.1:c.3852delG	NP_001159435.1:p.Trp1284Cysfs	NC_000002.11:g.166868646delC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3828T>A (p.Tyr1276Ter)	-1	-	Pathogenic	794726731	RCV000180839;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868670	166868670	NM_001165963.1:c.3828T>A	NP_001159435.1:p.Tyr1276Ter	NC_000002.11:g.166868670A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3821A>C (p.Tyr1274Ser)	-1	-	Pathogenic	794726852	RCV000180984;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868677	166868677	NM_001165963.1:c.3821A>C	NP_001159435.1:p.Tyr1274Ser	NC_000002.11:g.166868677T>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val)	-1	-	Pathogenic	794726841	RCV000180969;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868680	166868680	NM_001165963.1:c.3818C>T	NP_001159435.1:p.Ala1273Val	NC_000002.11:g.166868680G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs)	-1	-	Pathogenic	794726709	RCV000180813;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868686	166868696	NM_001165963.1:c.3802_3812delCTTCTAAAATG	NP_001159435.1:p.Leu1268Glyfs	NC_000002.11:g.166868686_166868696delCATTTTAGAAG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3761T>C (p.Leu1254Pro)	-1	-	not provided	121918794	RCV000059500;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868704	166868704	NM_006920.4:c.3761T>C	NP_008851.3:p.Leu1254Pro	NC_000002.11:g.166868704A>G	UniProtKB (variants):VAR_029695	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3756C>G (p.Phe1252Leu)	-1	-	not provided	121918752	RCV000059499;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868709	166868709	NM_006920.4:c.3756C>G	NP_008851.3:p.Phe1252Leu	NC_000002.11:g.166868709G>C	UniProtKB (variants):VAR_029694	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3745A>C (p.Thr1249Pro)	-1	-	Pathogenic	121918739	RCV000059498; RCV000188929;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166868720	166868720	NM_006920.4:c.3745A>C	NP_008851.3:p.Thr1249Pro	NC_000002.11:g.166868720T>G	UniProtKB (variants):VAR_064255	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3763G>C (p.Ala1255Pro)	-1	-	Pathogenic	777939538	RCV000180832;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868735	166868735	NM_001165963.1:c.3763G>C	NP_001159435.1:p.Ala1255Pro	NC_000002.11:g.166868735C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3757G>T (p.Glu1253Ter)	-1	-	Pathogenic	794726817	RCV000180942;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868741	166868741	NM_001165963.1:c.3757G>T	NP_001159435.1:p.Glu1253Ter	NC_000002.11:g.166868741C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3701G>A (p.Arg1234Gln)	-1	-	Pathogenic	121917912	RCV000059406; RCV000188926;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166868764	166868764	NM_006920.4:c.3701G>A	NP_008851.3:p.Arg1234Gln	NC_000002.11:g.166868764C>T	UniProtKB (variants):VAR_064311	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
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_001165963.1(SCN1A):c.3730C>T (p.Gln1244Ter)	-1	-	Pathogenic	794726727	RCV000180836;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868768	166868768	NM_001165963.1:c.3730C>T	NP_001159435.1:p.Gln1244Ter	NC_000002.11:g.166868768G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3726_3727insAT (p.Asp1243Metfs)	-1	-	Pathogenic	794726706	RCV000180809;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868771	166868772	NM_001165963.1:c.3726_3727insAT	NP_001159435.1:p.Asp1243Metfs	NC_000002.11:g.166868771_166868772insAT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=)	-1	-	Benign	36031496	RCV000030433; RCV000079576;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374	2	166868775	166868775	NM_001165964.1:c.3639T>C	NP_001159436.1:p.Tyr1213=	NC_000002.11:g.166868775A>G	-	CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp)	-1	-	Uncertain significance	121917973	RCV000059405; RCV000153890; RCV000188924;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374; MedGen:CN221809	2	166868784	166868784	NM_006920.4:c.3681A>C	NP_008851.3:p.Glu1227Asp	NC_000002.11:g.166868784T>G	HGMD:CM072009,UniProtKB (variants):VAR_043361	CN221809 not provided; CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3706G>C (p.Ala1236Pro)	-1	-	Pathogenic	794726770	RCV000180886;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166868792	166868792	NM_001165963.1:c.3706G>C	NP_001159435.1:p.Ala1236Pro	NC_000002.11:g.166868792C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3705+2T>A	-1	-	Pathogenic	794726735	RCV000180843;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870252	166870252	NM_001165963.1:c.3705+2T>A		NC_000002.11:g.166870252A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3705+1G>A	-1	-	Pathogenic	794726744	RCV000180854;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870253	166870253	NM_001165963.1:c.3705+1G>A		NC_000002.11:g.166870253C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3671delT (p.Leu1224Argfs)	-1	-	Pathogenic	869312670	RCV000209833;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870254	166870255	NM_006920.4:c.3671delT	NP_008851.3:p.Leu1224Argfs	NC_000002.11:g.166870255delA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3664G>C (p.Gly1222Arg)	-1	-	not provided	121917911	RCV000059404;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870262	166870262	NM_006920.4:c.3664G>C	NP_008851.3:p.Gly1222Arg	NC_000002.11:g.166870262C>G	UniProtKB (variants):VAR_029693	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3660T>A (p.Ser1220Arg)	-1	-	not provided	121918746	RCV000059496;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870266	166870266	NM_006920.4:c.3660T>A	NP_008851.3:p.Ser1220Arg	NC_000002.11:g.166870266A>G,NC_000002.11:g.166870266A>T	UniProtKB (variants):VAR_029692	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3659G>C (p.Ser1220Thr)	-1	-	not provided	121918800	RCV000059495;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870267	166870267	NM_006920.4:c.3659G>C	NP_008851.3:p.Ser1220Thr	NC_000002.11:g.166870267C>G	UniProtKB (variants):VAR_064310	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3661G>C (p.Glu1221Gln)	-1	-	Pathogenic	794726854	RCV000180987;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870298	166870298	NM_001165963.1:c.3661G>C	NP_001159435.1:p.Glu1221Gln	NC_000002.11:g.166870298C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3657G>A (p.Trp1219Ter)	-1	-	Pathogenic	863225033	RCV000201129;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870302	166870302	NM_001165963.1:c.3657G>A	NP_001159435.1:p.Trp1219Ter	NC_000002.11:g.166870302C>T	-	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_001165963.1(SCN1A):c.3637C>T (p.Arg1213Ter)	-1	-	Pathogenic	794726710	RCV000180814; RCV000189082;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166870322	166870322	NM_001165963.1:c.3637C>T	NP_001159435.1:p.Arg1213Ter	NC_000002.11:g.166870322G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3596C>A (p.Thr1199Lys)	-1	-	Pathogenic	121918738	RCV000059494;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870330	166870330	NM_006920.4:c.3596C>A	NP_008851.3:p.Thr1199Lys	NC_000002.11:g.166870330G>T	UniProtKB (variants):VAR_064254	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.3587T>C (p.Leu1196Pro)	-1	-	not provided	121917963	RCV000059403;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870339	166870339	NM_006920.4:c.3587T>C	NP_008851.3:p.Leu1196Pro	NC_000002.11:g.166870339A>G	UniProtKB (variants):VAR_043360	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3615G>A (p.Trp1205Ter)	-1	-	Pathogenic	794726720	RCV000180826;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166870344	166870344	NM_001165963.1:c.3615G>A	NP_001159435.1:p.Trp1205Ter	NC_000002.11:g.166870344C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3550+1G>A	-1	-	Pathogenic	794726836	RCV000180964;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166872116	166872116	NM_001165963.1:c.3550+1G>A		NC_000002.11:g.166872116C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3487delG (p.Val1163Terfs)	-1	-	Pathogenic	794726774	RCV000180890;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166872180	166872180	NM_001165963.1:c.3487delG	NP_001159435.1:p.Val1163Terfs	NC_000002.11:g.166872180delC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3477delC (p.Ile1159Metfs)	-1	-	Pathogenic	794726729	RCV000180838;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166872190	166872190	NM_001165963.1:c.3477delC	NP_001159435.1:p.Ile1159Metfs	NC_000002.11:g.166872190delG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3455C>A (p.Ser1152Ter)	-1	-	Pathogenic	794726728	RCV000180837;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166872212	166872212	NM_001165963.1:c.3455C>A	NP_001159435.1:p.Ser1152Ter	NC_000002.11:g.166872212G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3439G>T (p.Glu1147Ter)	-1	-	Pathogenic	794726733	RCV000180841;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166872228	166872228	NM_001165963.1:c.3439G>T	NP_001159435.1:p.Glu1147Ter	NC_000002.11:g.166872228C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3306C>A (p.Tyr1102Ter)	-1	-	Pathogenic	863225032	RCV000201200;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166892681	166892681	NM_001165963.1:c.3306C>A	NP_001159435.1:p.Tyr1102Ter	NC_000002.11:g.166892681G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3106C>T (p.Gln1036Ter)	-1	-	Pathogenic	542420576	RCV000180930;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166892881	166892881	NM_001165963.1:c.3106C>T	NP_001159435.1:p.Gln1036Ter	NC_000002.11:g.166892881G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3062_3066delAAGGA (p.Lys1021Serfs)	6323	SCN1A	Pathogenic	794726756	RCV000180868;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166892921	166892925	NM_001165963.1:c.3062_3066delAAGGA	NP_001159435.1:p.Lys1021Serfs	NC_000002.11:g.166892921_166892925delTCCTT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2999A>T (p.Asn1000Ile)	6323	SCN1A	not provided	121918759	RCV000059489;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166892955	166892955	NM_006920.4:c.2999A>T	NP_008851.3:p.Asn1000Ile	NC_000002.11:g.166892955T>A	UniProtKB (variants):VAR_029689	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.3017delA (p.Asp1006Valfs)	6323	SCN1A	Pathogenic	794726813	RCV000180935;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166892970	166892970	NM_001165963.1:c.3017delA	NP_001159435.1:p.Asp1006Valfs	NC_000002.11:g.166892970delT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu)	6323	SCN1A	Pathogenic;Uncertain significance	794726746	RCV000180857; RCV000188906;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374	2	166893002	166893002	NM_001165963.1:c.2985T>G	NP_001159435.1:p.Phe995Leu	NC_000002.11:g.166893002A>C	-	CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2980_2981delTC (p.Ser994Ilefs)	6323	SCN1A	Pathogenic	794726830	RCV000180957;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166893006	166893007	NM_001165963.1:c.2980_2981delTC	NP_001159435.1:p.Ser994Ilefs	NC_000002.11:g.166893006_166893007delGA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2923C>T (p.Leu975Phe)	6323	SCN1A	Pathogenic	121918625	RCV000032605;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166893031	166893031	NM_006920.4:c.2923C>T	NP_008851.3:p.Leu975Phe	NC_000002.11:g.166893031G>A	OMIM Allelic Variant:182389.0009,UniProtKB (variants):VAR_014268	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2921A>T (p.Asn974Ile)	6323	SCN1A	not provided	121918747	RCV000059488;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166893033	166893033	NM_006920.4:c.2921A>T	NP_008851.3:p.Asn974Ile	NC_000002.11:g.166893033T>A	UniProtKB (variants):VAR_029688	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2915T>C (p.Val972Ala)	6323	SCN1A	not provided	121918756	RCV000059487;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166893039	166893039	NM_006920.4:c.2915T>C	NP_008851.3:p.Val972Ala	NC_000002.11:g.166893039A>G	UniProtKB (variants):VAR_029687	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2946+1_2946+2delGT	6323	SCN1A	Pathogenic	794726714	RCV000180818;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894284	166894285	NM_001165963.1:c.2946+1_2946+2delGT		NC_000002.11:g.166894284_166894285delAC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2946+1G>T	6323	SCN1A	Pathogenic	794726772	RCV000180888; RCV000188902;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166894285	166894285	NM_001165963.1:c.2946+1G>T		NC_000002.11:g.166894285C>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2946delG (p.Val983Serfs)	6323	SCN1A	Pathogenic	794726715	RCV000180819;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894286	166894286	NM_001165963.1:c.2946delG	NP_001159435.1:p.Val983Serfs	NC_000002.11:g.166894286delC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2936G>A (p.Gly979Glu)	6323	SCN1A	Pathogenic	794726842	RCV000180972;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894296	166894296	NM_001165963.1:c.2936G>A	NP_001159435.1:p.Gly979Glu	NC_000002.11:g.166894296C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2902G>A (p.Gly968Arg)	6323	SCN1A	not provided	121918754	RCV000059486;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894297	166894297	NM_006920.4:c.2902G>A	NP_008851.3:p.Gly968Arg	NC_000002.11:g.166894297C>T	UniProtKB (variants):VAR_029686	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2929G>A (p.Val977Met)	6323	SCN1A	Pathogenic	794726828	RCV000180955;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894303	166894303	NM_001165963.1:c.2929G>A	NP_001159435.1:p.Val977Met	NC_000002.11:g.166894303C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2903G>T (p.Cys968Phe)	6323	SCN1A	Pathogenic	794726823	RCV000180948;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894329	166894329	NM_001165963.1:c.2903G>T	NP_001159435.1:p.Cys968Phe	NC_000002.11:g.166894329C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2879T>G (p.Met960Arg)	6323	SCN1A	Pathogenic	794726708	RCV000180811;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894353	166894353	NM_001165963.1:c.2879T>G	NP_001159435.1:p.Met960Arg	NC_000002.11:g.166894353A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2845A>G (p.Met949Val)	6323	SCN1A	not provided	121918750	RCV000059485;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894354	166894354	NM_006920.4:c.2845A>G	NP_008851.3:p.Met949Val	NC_000002.11:g.166894354T>C	UniProtKB (variants):VAR_029685	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2869_2878delTGGGACTGTA (p.Asp958Argfs)	6323	SCN1A	Pathogenic	794726808	RCV000180929;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894354	166894363	NM_001165963.1:c.2869_2878delTGGGACTGTA	NP_001159435.1:p.Asp958Argfs	NC_000002.11:g.166894354_166894363delTACAGTCCCA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2876G>A (p.Cys959Tyr)	6323	SCN1A	Pathogenic	794726716	RCV000180820;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894356	166894356	NM_001165963.1:c.2876G>A	NP_001159435.1:p.Cys959Tyr	NC_000002.11:g.166894356C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2842T>C (p.Cys948Arg)	6323	SCN1A	not provided	121918796	RCV000059484;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894357	166894357	NM_006920.4:c.2842T>C	NP_008851.3:p.Cys948Arg	NC_000002.11:g.166894357A>G	UniProtKB (variants):VAR_029684	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2837G>T (p.Trp946Leu)	6323	SCN1A	not provided	121917917	RCV000059397;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894362	166894362	NM_006920.4:c.2837G>T	NP_008851.3:p.Trp946Leu	NC_000002.11:g.166894362C>A	UniProtKB (variants):VAR_064308	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2827G>A (p.Glu943Lys)	6323	SCN1A	not provided	121918786	RCV000059483;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894372	166894372	NM_006920.4:c.2827G>A	NP_008851.3:p.Glu943Lys	NC_000002.11:g.166894372C>T	UniProtKB (variants):VAR_064253	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2821T>G (p.Trp941Gly)	6323	SCN1A	Pathogenic	121918737	RCV000059482;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894378	166894378	NM_006920.4:c.2821T>G	NP_008851.3:p.Trp941Gly	NC_000002.11:g.166894378A>C	UniProtKB (variants):VAR_064252	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2816G>A (p.Gly939Glu)	6323	SCN1A	not provided	121917972	RCV000059396;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894383	166894383	NM_006920.4:c.2816G>A	NP_008851.3:p.Gly939Glu	NC_000002.11:g.166894383C>T	UniProtKB (variants):VAR_064251	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2804G>A (p.Arg935His)	6323	SCN1A	Pathogenic	121917971	RCV000059395;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894395	166894395	NM_006920.4:c.2804G>A	NP_008851.3:p.Arg935His	NC_000002.11:g.166894395C>G,NC_000002.11:g.166894395C>T	UniProtKB (variants):VAR_029683	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2837G>C (p.Arg946Pro)	6323	SCN1A	Pathogenic	121917971	RCV000180835;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894395	166894395	NM_001165963.1:c.2837G>C	NP_001159435.1:p.Arg946Pro	NC_000002.11:g.166894395C>G,NC_000002.11:g.166894395C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2803C>A (p.Arg935Ser)	6323	SCN1A	not provided	121918775	RCV000059480;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894396	166894396	NM_006920.4:c.2803C>A	NP_008851.3:p.Arg935Ser	NC_000002.11:g.166894396G>A,NC_000002.11:g.166894396G>T	UniProtKB (variants):VAR_057995	C0751122 607208 Severe myoclonic epilepsy in infancy
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.2800T>C (p.Phe934Leu)	6323	SCN1A	not provided	121917970	RCV000059394;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894399	166894399	NM_006920.4:c.2800T>C	NP_008851.3:p.Phe934Leu	NC_000002.11:g.166894399A>G	UniProtKB (variants):VAR_064250	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2798T>C (p.Val933Ala)	6323	SCN1A	not provided	121917969	RCV000059479;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894401	166894401	NM_006920.4:c.2798T>C	NP_008851.3:p.Val933Ala	NC_000002.11:g.166894401A>G	UniProtKB (variants):VAR_029681	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2792T>C (p.Leu931Pro)	6323	SCN1A	not provided	121917943	RCV000059393;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894407	166894407	NM_006920.4:c.2792T>C	NP_008851.3:p.Leu931Pro	NC_000002.11:g.166894407A>G	UniProtKB (variants):VAR_064307	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2784C>G (p.His928Gln)	6323	SCN1A	not provided	121918795	RCV000059478;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894415	166894415	NM_006920.4:c.2784C>G	NP_008851.3:p.His928Gln	NC_000002.11:g.166894415G>C	UniProtKB (variants):VAR_029680	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2782C>T (p.His928Tyr)	6323	SCN1A	Pathogenic	121918736	RCV000059477;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894417	166894417	NM_006920.4:c.2782C>T	NP_008851.3:p.His928Tyr	NC_000002.11:g.166894417G>A	UniProtKB (variants):VAR_064248	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2769G>C (p.Met923Ile)	6323	SCN1A	not provided	121918774	RCV000059476;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894430	166894430	NM_006920.4:c.2769G>C	NP_008851.3:p.Met923Ile	NC_000002.11:g.166894430C>G	UniProtKB (variants):VAR_029679	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2792G>C (p.Arg931Pro)	6323	SCN1A	Likely pathogenic;Pathogenic	794726718	RCV000180915; RCV000189084;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166894440	166894440	NM_001165963.1:c.2792G>C	NP_001159435.1:p.Arg931Pro	NC_000002.11:g.166894440C>G,NC_000002.11:g.166894440C>T	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2792G>A (p.Arg931His)	6323	SCN1A	Pathogenic	794726718	RCV000180822;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894440	166894440	NM_001165963.1:c.2792G>A	NP_001159435.1:p.Arg931His	NC_000002.11:g.166894440C>G,NC_000002.11:g.166894440C>T	-	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_001165963.1(SCN1A):c.2780G>T (p.Cys927Phe)	6323	SCN1A	Pathogenic	794726811	RCV000180933;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894452	166894452	NM_001165963.1:c.2780G>T	NP_001159435.1:p.Cys927Phe	NC_000002.11:g.166894452C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2728C>A (p.Gln910Lys)	6323	SCN1A	Pathogenic	794726721	RCV000180827;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894504	166894504	NM_001165963.1:c.2728C>A	NP_001159435.1:p.Gln910Lys	NC_000002.11:g.166894504G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2672T>G (p.Phe891Cys)	6323	SCN1A	not provided	121918787	RCV000059472;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894527	166894527	NM_006920.4:c.2672T>G	NP_008851.3:p.Phe891Cys	NC_000002.11:g.166894527A>C	UniProtKB (variants):VAR_029677	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2690T>C (p.Leu897Ser)	6323	SCN1A	Pathogenic	794726761	RCV000180876;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894542	166894542	NM_001165963.1:c.2690T>C	NP_001159435.1:p.Leu897Ser	NC_000002.11:g.166894542A>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2678T>A (p.Leu893Ter)	6323	SCN1A	Pathogenic	794726815	RCV000180940;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894554	166894554	NM_001165963.1:c.2678T>A	NP_001159435.1:p.Leu893Ter	NC_000002.11:g.166894554A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2591C>A (p.Thr864Lys)	6323	SCN1A	not provided	121918623	RCV000059470;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894608	166894608	NM_006920.4:c.2591C>A	NP_008851.3:p.Thr864Lys	NC_000002.11:g.166894608G>A,NC_000002.11:g.166894608G>T	UniProtKB (variants):VAR_064247	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2615C>A (p.Ser872Tyr)	6323	SCN1A	Pathogenic	794726786	RCV000180902;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894617	166894617	NM_001165963.1:c.2615C>A	NP_001159435.1:p.Ser872Tyr	NC_000002.11:g.166894617G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2603delA (p.Lys868Serfs)	6323	SCN1A	Pathogenic	794726787	RCV000180903;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894629	166894629	NM_001165963.1:c.2603delA	NP_001159435.1:p.Lys868Serfs	NC_000002.11:g.166894629delT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2593C>T (p.Arg865Ter)	6323	SCN1A	Pathogenic	794726697	RCV000180798;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166894639	166894639	NM_001165963.1:c.2593C>T	NP_001159435.1:p.Arg865Ter	NC_000002.11:g.166894639G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
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.2589+3A>T	6323	SCN1A	Pathogenic	794726775	RCV000180891; RCV000188876;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166895930	166895930	NM_001165963.1:c.2589+3A>T		NC_000002.11:g.166895930T>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2588T>G (p.Leu863Trp)	6323	SCN1A	Pathogenic	794726712	RCV000180816;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895934	166895934	NM_001165963.1:c.2588T>G	NP_001159435.1:p.Leu863Trp	NC_000002.11:g.166895934A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln)	6323	SCN1A	Pathogenic	121918785	RCV000059469;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895937	166895937	NM_006920.4:c.2552G>A	NP_008851.3:p.Arg851Gln	NC_000002.11:g.166895937C>T	UniProtKB (variants):VAR_064246	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2551C>G (p.Arg851Gly)	6323	SCN1A	Pathogenic	397514459	RCV000022765;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895938	166895938	NM_006920.4:c.2551C>G	NP_008851.3:p.Arg851Gly	NC_000002.11:g.166895938G>A,NC_000002.11:g.166895938G>C	OMIM Allelic Variant:182389.0024	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.2537A>G (p.Glu846Gly)	6323	SCN1A	Pathogenic	794726794	RCV000180911;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895985	166895985	NM_001165963.1:c.2537A>G	NP_001159435.1:p.Glu846Gly	NC_000002.11:g.166895985T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2503G>A (p.Glu835Lys)	6323	SCN1A	not provided	121917942	RCV000059391;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895986	166895986	NM_006920.4:c.2503G>A	NP_008851.3:p.Glu835Lys	NC_000002.11:g.166895986C>T	UniProtKB (variants):VAR_064305	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2523_2524delGC (p.Leu842Terfs)	6323	SCN1A	Pathogenic	794726738	RCV000180847;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166895998	166895999	NM_001165963.1:c.2523_2524delGC	NP_001159435.1:p.Leu842Terfs	NC_000002.11:g.166895998_166895999delGC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2479T>G (p.Tyr827Asp)	6323	SCN1A	Pathogenic	794726805	RCV000180925;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166896043	166896043	NM_001165963.1:c.2479T>G	NP_001159435.1:p.Tyr827Asp	NC_000002.11:g.166896043A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2402C>G (p.Thr801Arg)	6323	SCN1A	not provided	121917941	RCV000059390;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166896087	166896087	NM_006920.4:c.2402C>G	NP_008851.3:p.Thr801Arg	NC_000002.11:g.166896087G>C	UniProtKB (variants):VAR_064304	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2389A>T (p.Thr797Ser)	6323	SCN1A	not provided	121918758	RCV000059467;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166896100	166896100	NM_006920.4:c.2389A>T	NP_008851.3:p.Thr797Ser	NC_000002.11:g.166896100T>A	UniProtKB (variants):VAR_029676	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_001165963.1(SCN1A):c.2353A>G (p.Met785Val)	6323	SCN1A	Pathogenic	767045134	RCV000180869;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897803	166897803	NM_001165963.1:c.2353A>G	NP_001159435.1:p.Met785Val	NC_000002.11:g.166897803T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.2315T>C (p.Leu772Pro)	6323	SCN1A	not provided	121917968	RCV000059387;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897808	166897808	NM_006920.4:c.2315T>C	NP_008851.3:p.Leu772Pro	NC_000002.11:g.166897808A>G	UniProtKB (variants):VAR_064245	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2318_2319insT (p.Ile774Hisfs)	6323	SCN1A	Pathogenic	794726820	RCV000180945;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897837	166897838	NM_001165963.1:c.2318_2319insT	NP_001159435.1:p.Ile774Hisfs	NC_000002.11:g.166897837_166897838insA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2303C>T (p.Pro768Leu)	6323	SCN1A	Pathogenic	794726766	RCV000180882;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897853	166897853	NM_001165963.1:c.2303C>T	NP_001159435.1:p.Pro768Leu	NC_000002.11:g.166897853G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2299_2302dupGACC (p.Pro768Argfs)	6323	SCN1A	Pathogenic	794726750	RCV000180861;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897854	166897857	NM_001165963.1:c.2299_2302dupGACC	NP_001159435.1:p.Pro768Argfs	NC_000002.11:g.166897854_166897857dupGGTC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2261G>T (p.Trp754Leu)	6323	SCN1A	Pathogenic	794726743	RCV000180853;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897895	166897895	NM_001165963.1:c.2261G>T	NP_001159435.1:p.Trp754Leu	NC_000002.11:g.166897895C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2213G>T (p.Trp738Leu)	6323	SCN1A	Pathogenic	794726742	RCV000180852;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897943	166897943	NM_001165963.1:c.2213G>T	NP_001159435.1:p.Trp738Leu	NC_000002.11:g.166897943C>A,NC_000002.11:g.166897943C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2213G>A (p.Trp738Ter)	6323	SCN1A	Pathogenic	794726742	RCV000180923;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166897943	166897943	NM_001165963.1:c.2213G>A	NP_001159435.1:p.Trp738Ter	NC_000002.11:g.166897943C>A,NC_000002.11:g.166897943C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2176+3T>A	6323	SCN1A	Pathogenic	794726795	RCV000180912;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166898799	166898799	NM_001165963.1:c.2176+3T>A		NC_000002.11:g.166898799A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
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.2100delC (p.Met701Trpfs)	6323	SCN1A	Pathogenic	794726806	RCV000180926;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166898878	166898878	NM_001165963.1:c.2100delC	NP_001159435.1:p.Met701Trpfs	NC_000002.11:g.166898878delG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.2071A>T (p.Lys691Ter)	6323	SCN1A	Pathogenic	794726747	RCV000180858;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166898907	166898907	NM_001165963.1:c.2071A>T	NP_001159435.1:p.Lys691Ter	NC_000002.11:g.166898907T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1970C>T (p.Pro657Leu)	6323	SCN1A	Pathogenic	794726838	RCV000180966;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900252	166900252	NM_001165963.1:c.1970C>T	NP_001159435.1:p.Pro657Leu	NC_000002.11:g.166900252G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1876A>G (p.Ser626Gly)	6323	SCN1A	Pathogenic	121917990	RCV000180909; RCV000059384;	N	MedGen:C0014548,SNOMED CT:19598007; MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900346	166900346	NM_006920.4:c.1876A>G	NP_008851.3:p.Ser626Gly	NC_000002.11:g.166900346T>C	UniProtKB (variants):VAR_043358	C0014548 Generalized epilepsy; 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_001165963.1(SCN1A):c.1834C>T (p.Arg612Ter)	6323	SCN1A	Pathogenic	794726778	RCV000180894;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900388	166900388	NM_001165963.1:c.1834C>T	NP_001159435.1:p.Arg612Ter	NC_000002.11:g.166900388G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1811G>A (p.Arg604His)	6323	SCN1A	Benign;Likely benign	121918769	RCV000059465; RCV000079561; RCV000198066;	N	MedGen:C0393706, Orphanet:ORPHA1934; MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374	2	166900411	166900411	NM_006920.4:c.1811G>A	NP_008851.3:p.Arg604His	NC_000002.11:g.166900411C>T	HGMD:CM093056,UniProtKB (variants):VAR_064244	C0393706 Early infantile epileptic encephalopathy; CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1804G>T (p.Glu602Ter)	6323	SCN1A	Pathogenic	794726834	RCV000180962;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900418	166900418	NM_001165963.1:c.1804G>T	NP_001159435.1:p.Glu602Ter	NC_000002.11:g.166900418C>A	-	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_001165963.1(SCN1A):c.1738C>T (p.Arg580Ter)	6323	SCN1A	Pathogenic	794726736	RCV000180844;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900484	166900484	NM_001165963.1:c.1738C>T	NP_001159435.1:p.Arg580Ter	NC_000002.11:g.166900484G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1667delT (p.Leu556Cysfs)	6323	SCN1A	Pathogenic	794726704	RCV000180807;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166900555	166900555	NM_001165963.1:c.1667delT	NP_001159435.1:p.Leu556Cysfs	NC_000002.11:g.166900555delA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1662+3A>G	6323	SCN1A	Pathogenic	794726773	RCV000180889;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166901550	166901550	NM_001165963.1:c.1662+3A>G		NC_000002.11:g.166901550T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1662+1G>T	6323	SCN1A	Pathogenic	794726749	RCV000180860;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166901552	166901552	NM_001165963.1:c.1662+1G>T		NC_000002.11:g.166901552C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1659dupC (p.Gln554Profs)	6323	SCN1A	Pathogenic	794726717	RCV000180821;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166901556	166901556	NM_001165963.1:c.1659dupC	NP_001159435.1:p.Gln554Profs	NC_000002.11:g.166901556dupG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1624C>T (p.Arg542Ter)	6323	SCN1A	Pathogenic	138877187	RCV000180802; RCV000188870;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166901591	166901591	NM_001165963.1:c.1624C>T	NP_001159435.1:p.Arg542Ter	NC_000002.11:g.166901591G>A	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1516C>T (p.Gln506Ter)	6323	SCN1A	Pathogenic	794726790	RCV000180906;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166901699	166901699	NM_001165963.1:c.1516C>T	NP_001159435.1:p.Gln506Ter	NC_000002.11:g.166901699G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1439_1442delCAGA (p.Asp481Alafs)	6323	SCN1A	Pathogenic	794726829	RCV000180956;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166901773	166901776	NM_001165963.1:c.1439_1442delCAGA	NP_001159435.1:p.Asp481Alafs	NC_000002.11:g.166901773_166901776delTCTG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1345G>T (p.Glu449Ter)	6323	SCN1A	Pathogenic	794726807	RCV000180928;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903312	166903312	NM_001165963.1:c.1345G>T	NP_001159435.1:p.Glu449Ter	NC_000002.11:g.166903312C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1301delT (p.Leu434Trpfs)	6323	SCN1A	Pathogenic	794726810	RCV000180932;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903356	166903356	NM_001165963.1:c.1301delT	NP_001159435.1:p.Leu434Trpfs	NC_000002.11:g.166903356delA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1276T>A (p.Tyr426Asn)	6323	SCN1A	not provided	121917940	RCV000059383;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903381	166903381	NM_006920.4:c.1276T>A	NP_008851.3:p.Tyr426Asn	NC_000002.11:g.166903381A>T	UniProtKB (variants):VAR_029673	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1265T>C (p.Val422Ala)	6323	SCN1A	Pathogenic	121917989	RCV000180872;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903392	166903392	NM_001165963.1:c.1265T>C	NP_001159435.1:p.Val422Ala	NC_000002.11:g.166903392A>G,NC_000002.11:g.166903392A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1259C>T (p.Ala420Val)	6323	SCN1A	Pathogenic	794726826	RCV000180952;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903398	166903398	NM_001165963.1:c.1259C>T	NP_001159435.1:p.Ala420Val	NC_000002.11:g.166903398G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1237T>A (p.Tyr413Asn)	6323	SCN1A	not provided	121917967	RCV000059381;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903420	166903420	NM_006920.4:c.1237T>A	NP_008851.3:p.Tyr413Asn	NC_000002.11:g.166903420A>T	UniProtKB (variants):VAR_064243	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe)	6323	SCN1A	Pathogenic;Uncertain significance	121918768	RCV000059463; RCV000180562;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166903441	166903441	NM_006920.4:c.1216G>T	NP_008851.3:p.Val406Phe	NC_000002.11:g.166903441C>A	UniProtKB (variants):VAR_064242	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=)	6323	SCN1A	Benign;Likely benign	7580482	RCV000030430; RCV000079554;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN169374	2	166903445	166903445	NM_001165963.1:c.1212A>G	NP_001159435.1:p.Val404=	NC_000002.11:g.166903445T>C	-	CN169374 not specified; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1207T>C (p.Phe403Leu)	6323	SCN1A	not provided	121917966	RCV000059380;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903450	166903450	NM_006920.4:c.1207T>C	NP_008851.3:p.Phe403Leu	NC_000002.11:g.166903450A>G	UniProtKB (variants):VAR_064303	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1199T>A (p.Met400Lys)	6323	SCN1A	Pathogenic	794726725	RCV000180833;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903458	166903458	NM_001165963.1:c.1199T>A	NP_001159435.1:p.Met400Lys	NC_000002.11:g.166903458A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1197_1198delCA (p.Met400Aspfs)	6323	SCN1A	Pathogenic	794726818	RCV000180943;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903459	166903460	NM_001165963.1:c.1197_1198delCA	NP_001159435.1:p.Met400Aspfs	NC_000002.11:g.166903459_166903460delTG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1183_1184delGC (p.Ala395Trpfs)	6323	SCN1A	Pathogenic	794726776	RCV000180892;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903473	166903474	NM_001165963.1:c.1183_1184delGC	NP_001159435.1:p.Ala395Trpfs	NC_000002.11:g.166903473_166903474delGC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1182_1183insA (p.Ala395Serfs)	6323	SCN1A	Pathogenic	794726777	RCV000180893;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903474	166903475	NM_001165963.1:c.1182_1183insA	NP_001159435.1:p.Ala395Serfs	NC_000002.11:g.166903474_166903475insT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1178G>A (p.Arg393His)	6323	SCN1A	Pathogenic	121917927	RCV000059378; RCV000188863;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166903479	166903479	NM_006920.4:c.1178G>A	NP_008851.3:p.Arg393His	NC_000002.11:g.166903479C>T	UniProtKB (variants):VAR_029672	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1177C>A (p.Arg393Ser)	6323	SCN1A	not provided	121917929	RCV000059376;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166903480	166903480	NM_006920.4:c.1177C>A	NP_008851.3:p.Arg393Ser	NC_000002.11:g.166903480G>A,NC_000002.11:g.166903480G>T	UniProtKB (variants):VAR_064302	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1177C>T (p.Arg393Cys)	6323	SCN1A	Pathogenic	121917929	RCV000059377; RCV000188854;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166903480	166903480	NM_006920.4:c.1177C>T	NP_008851.3:p.Arg393Cys	NC_000002.11:g.166903480G>A,NC_000002.11:g.166903480G>T	UniProtKB (variants):VAR_043355	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1170+1G>T	6323	SCN1A	Pathogenic	794726765	RCV000180881;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904136	166904136	NM_001165963.1:c.1170+1G>T		NC_000002.11:g.166904136C>A	-	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.1149C>G (p.Phe383Leu)	6323	SCN1A	not provided	121917939	RCV000059375;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904158	166904158	NM_006920.4:c.1149C>G	NP_008851.3:p.Phe383Leu	NC_000002.11:g.166904158G>C	UniProtKB (variants):VAR_064301	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1146C>A (p.Asp382Glu)	6323	SCN1A	Pathogenic	794726753	RCV000180865;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904161	166904161	NM_001165963.1:c.1146C>A	NP_001159435.1:p.Asp382Glu	NC_000002.11:g.166904161G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1136T>A (p.Met379Lys)	6323	SCN1A	Pathogenic	794726732	RCV000180840;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904171	166904171	NM_001165963.1:c.1136T>A	NP_001159435.1:p.Met379Lys	NC_000002.11:g.166904171A>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln)	6323	SCN1A	Likely pathogenic;Pathogenic	121917957	RCV000180936; RCV000059374; RCV000188861;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:C1858672,OMIM:604233; MedGen:CN221809	2	166904177	166904177	NM_006920.4:c.1130G>A	NP_008851.3:p.Arg377Gln	NC_000002.11:g.166904177C>T	UniProtKB (variants):VAR_043354	C1858672 604233 Generalized epilepsy with febrile seizures plus, type 1; CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1129C>T (p.Arg377Ter)	6323	SCN1A	Pathogenic	794726799	RCV000180917;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904178	166904178	NM_001165963.1:c.1129C>T	NP_001159435.1:p.Arg377Ter	NC_000002.11:g.166904178G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1118delT (p.Leu373Cysfs)	6323	SCN1A	Pathogenic	794726695	RCV000180796;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904189	166904189	NM_001165963.1:c.1118delT	NP_001159435.1:p.Leu373Cysfs	NC_000002.11:g.166904189delA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1096_1115del20 (p.Asp366Phefs)	6323	SCN1A	Pathogenic	794726792	RCV000180908;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904192	166904211	NM_001165963.1:c.1096_1115del20	NP_001159435.1:p.Asp366Phefs	NC_000002.11:g.166904192_166904211del20	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1098T>A (p.Asp366Glu)	6323	SCN1A	not provided	121917958	RCV000059373;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904209	166904209	NM_006920.4:c.1098T>A	NP_008851.3:p.Asp366Glu	NC_000002.11:g.166904209A>T	UniProtKB (variants):VAR_043353	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser)	6323	SCN1A	Pathogenic	794726713	RCV000180817;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904231	166904231	NM_001165963.1:c.1076A>G	NP_001159435.1:p.Asn359Ser	NC_000002.11:g.166904231T>A,NC_000002.11:g.166904231T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1072C>A (p.Pro358Thr)	6323	SCN1A	not provided	121917923	RCV000059372;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904235	166904235	NM_006920.4:c.1072C>A	NP_008851.3:p.Pro358Thr	NC_000002.11:g.166904235G>A,NC_000002.11:g.166904235G>T	UniProtKB (variants):VAR_064300	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1072C>T (p.Pro358Ser)	6323	SCN1A	Pathogenic	121917923	RCV000180825;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904235	166904235	NM_001165963.1:c.1072C>T	NP_001159435.1:p.Pro358Ser	NC_000002.11:g.166904235G>A,NC_000002.11:g.166904235G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1066A>G (p.Arg356Gly)	6323	SCN1A	not provided	121917920	RCV000059371;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904241	166904241	NM_006920.4:c.1066A>G	NP_008851.3:p.Arg356Gly	NC_000002.11:g.166904241T>C	UniProtKB (variants):VAR_064299	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1055_1056delTG (p.Val352Glufs)	6323	SCN1A	Pathogenic	794726767	RCV000180883;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904251	166904252	NM_001165963.1:c.1055_1056delTG	NP_001159435.1:p.Val352Glufs	NC_000002.11:g.166904251_166904252delCA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1048A>G (p.Met350Val)	6323	SCN1A	Pathogenic	794726768	RCV000180884;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904259	166904259	NM_001165963.1:c.1048A>G	NP_001159435.1:p.Met350Val	NC_000002.11:g.166904259T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1046A>G (p.Tyr349Cys)	6323	SCN1A	Pathogenic	794726844	RCV000180974;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904261	166904261	NM_001165963.1:c.1046A>G	NP_001159435.1:p.Tyr349Cys	NC_000002.11:g.166904261T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1033T>C (p.Cys345Arg)	6323	SCN1A	Pathogenic	794726782	RCV000180898;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166904274	166904274	NM_001165963.1:c.1033T>C	NP_001159435.1:p.Cys345Arg	NC_000002.11:g.166904274A>G	-	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_001165963.1(SCN1A):c.1028+1G>T	6323	SCN1A	Pathogenic	863225030	RCV000201025;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905395	166905395	NM_001165963.1:c.1028+1G>T		NC_000002.11:g.166905395C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.1028G>A (p.Gly343Asp)	6323	SCN1A	not provided	121918753	RCV000059461;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905396	166905396	NM_006920.4:c.1028G>A	NP_008851.3:p.Gly343Asp	NC_000002.11:g.166905396C>T	UniProtKB (variants):VAR_029671	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1025C>T (p.Ala342Val)	6323	SCN1A	Pathogenic	794726797	RCV000180914;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905399	166905399	NM_001165963.1:c.1025C>T	NP_001159435.1:p.Ala342Val	NC_000002.11:g.166905399G>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1024G>T (p.Ala342Ser)	6323	SCN1A	Pathogenic	794726843	RCV000180973;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905400	166905400	NM_001165963.1:c.1024G>T	NP_001159435.1:p.Ala342Ser	NC_000002.11:g.166905400C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.1007G>A (p.Cys336Tyr)	6323	SCN1A	Pathogenic	794726798	RCV000180916;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905417	166905417	NM_001165963.1:c.1007G>A	NP_001159435.1:p.Cys336Tyr	NC_000002.11:g.166905417C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.992dupT (p.Leu331Phefs)	6323	SCN1A	Pathogenic	863225038	RCV000201079;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905432	166905432	NM_001165963.1:c.992dupT	NP_001159435.1:p.Leu331Phefs	NC_000002.11:g.166905432dupA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.965G>T (p.Arg322Ile)	6323	SCN1A	not provided	121917928	RCV000059460;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166905459	166905459	NM_006920.4:c.965G>T	NP_008851.3:p.Arg322Ile	NC_000002.11:g.166905459C>A	UniProtKB (variants):VAR_064298	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.965-1G>A	6323	SCN1A	Pathogenic	794726824	RCV000180949; RCV000188853;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166905460	166905460	NM_001165963.1:c.965-1G>A		NC_000002.11:g.166905460C>T	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.964+14T>G	6323	SCN1A	Pathogenic	794726837	RCV000180965;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908215	166908215	NM_001165963.1:c.964+14T>G		NC_000002.11:g.166908215A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.930_931dupTG (p.Glu311Valfs)	6323	SCN1A	Pathogenic	794726846	RCV000180976;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908262	166908263	NM_001165963.1:c.930_931dupTG	NP_001159435.1:p.Glu311Valfs	NC_000002.11:g.166908262_166908263dupCA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.896_905delATTATAATGG (p.Asn299Ilefs)	6323	SCN1A	Pathogenic	794726788	RCV000180904;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908288	166908297	NM_001165963.1:c.896_905delATTATAATGG	NP_001159435.1:p.Asn299Ilefs	NC_000002.11:g.166908288_166908297delCCATTATAAT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.890C>T (p.Thr297Ile)	6323	SCN1A	not provided	121918771	RCV000059555;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908303	166908303	NM_006920.4:c.890C>T	NP_008851.3:p.Thr297Ile	NC_000002.11:g.166908303G>A	UniProtKB (variants):VAR_029670	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.838T>C (p.Trp280Arg)	6323	SCN1A	Pathogenic	121917938	RCV000059459;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908355	166908355	NM_006920.4:c.838T>C	NP_008851.3:p.Trp280Arg	NC_000002.11:g.166908355A>G	UniProtKB (variants):VAR_029669	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.826A>C (p.Lys276Gln)	6323	SCN1A	Pathogenic	794726847	RCV000180977;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908367	166908367	NM_001165963.1:c.826A>C	NP_001159435.1:p.Lys276Gln	NC_000002.11:g.166908367T>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.825_826insGTATA (p.Lys276Valfs)	6323	SCN1A	Pathogenic	794726812	RCV000180934;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908367	166908368	NM_001165963.1:c.825_826insGTATA	NP_001159435.1:p.Lys276Valfs	NC_000002.11:g.166908367_166908368insTATAC	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.793G>T (p.Gly265Trp)	6323	SCN1A	not provided	121918749	RCV000059554;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908400	166908400	NM_006920.4:c.793G>T	NP_008851.3:p.Gly265Trp	NC_000002.11:g.166908400C>A	UniProtKB (variants):VAR_029668	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.777C>A (p.Ser259Arg)	6323	SCN1A	Pathogenic	121918735	RCV000059553;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908416	166908416	NM_006920.4:c.777C>A	NP_008851.3:p.Ser259Arg	NC_000002.11:g.166908416G>T	UniProtKB (variants):VAR_064240	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg)	6323	SCN1A	Likely pathogenic;Pathogenic	794726771	RCV000180887; RCV000188845;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166908424	166908424	NM_001165963.1:c.769T>C	NP_001159435.1:p.Cys257Arg	NC_000002.11:g.166908424A>G	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.755T>A (p.Ile252Asn)	6323	SCN1A	not provided	121918780	RCV000059552;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908438	166908438	NM_006920.4:c.755T>A	NP_008851.3:p.Ile252Asn	NC_000002.11:g.166908438A>T	UniProtKB (variants):VAR_029667	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.751delA (p.Met251Terfs)	6323	SCN1A	Pathogenic	794726751	RCV000180862;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908442	166908442	NM_001165963.1:c.751delA	NP_001159435.1:p.Met251Terfs	NC_000002.11:g.166908442delT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.747T>G (p.Asp249Glu)	6323	SCN1A	Pathogenic	773407463	RCV000180938;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908446	166908446	NM_001165963.1:c.747T>G	NP_001159435.1:p.Asp249Glu	NC_000002.11:g.166908446A>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.728C>A (p.Ser243Tyr)	6323	SCN1A	Pathogenic	794726755	RCV000180867;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908465	166908465	NM_001165963.1:c.728C>A	NP_001159435.1:p.Ser243Tyr	NC_000002.11:g.166908465G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.716C>T (p.Ala239Val)	6323	SCN1A	not provided	121917909	RCV000059457;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908477	166908477	NM_006920.4:c.716C>T	NP_008851.3:p.Ala239Val	NC_000002.11:g.166908477G>A	UniProtKB (variants):VAR_064239	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.715G>A (p.Ala239Thr)	6323	SCN1A	Pathogenic	121917985	RCV000059456;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166908478	166908478	NM_006920.4:c.715G>A	NP_008851.3:p.Ala239Thr	NC_000002.11:g.166908478C>T	UniProtKB (variants):VAR_043352	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.694+5G>C	6323	SCN1A	Pathogenic;Uncertain significance	727504142	RCV000180927; RCV000153902;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166909357	166909357	NM_001165963.1:c.694+5G>C		NC_000002.11:g.166909357C>G	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.680T>G (p.Ile227Ser)	6323	SCN1A	Pathogenic	121917937	RCV000059455; RCV000188842;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166909376	166909376	NM_006920.4:c.680T>G	NP_008851.3:p.Ile227Ser	NC_000002.11:g.166909376A>C	UniProtKB (variants):VAR_029666	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.677C>T (p.Thr226Met)	6323	SCN1A	Pathogenic	121917984	RCV000059454; RCV000188843;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166909379	166909379	NM_006920.4:c.677C>T	NP_008851.3:p.Thr226Met	NC_000002.11:g.166909379G>A,NC_000002.11:g.166909379G>C	UniProtKB (variants):VAR_043351	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.675G>C (p.Lys225Asn)	6323	SCN1A	Pathogenic	794726719	RCV000180824;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166909381	166909381	NM_001165963.1:c.675G>C	NP_001159435.1:p.Lys225Asn	NC_000002.11:g.166909381C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
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_001165963.1(SCN1A):c.659_662delTTCT (p.Val220Alafs)	6323	SCN1A	Pathogenic	794726724	RCV000180831;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166909394	166909397	NM_001165963.1:c.659_662delTTCT	NP_001159435.1:p.Val220Alafs	NC_000002.11:g.166909394_166909397delAGAA	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.650C>A (p.Thr217Lys)	6323	SCN1A	not provided	121917936	RCV000059453;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166909406	166909406	NM_006920.4:c.650C>A	NP_008851.3:p.Thr217Lys	NC_000002.11:g.166909406G>T	UniProtKB (variants):VAR_064297	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.602+3A>C	6323	SCN1A	Pathogenic	794726833	RCV000180960;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911145	166911145	NM_001165963.1:c.602+3A>C		NC_000002.11:g.166911145T>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.602+1G>T	6323	SCN1A	Pathogenic	794726827	RCV000180953;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911147	166911147	NM_001165963.1:c.602+1G>T		NC_000002.11:g.166911147C>A,NC_000002.11:g.166911147C>G,NC_000002.11:g.166911147	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.602+1G>A	6323	SCN1A	Pathogenic	794726827	RCV000178154; RCV000188832;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166911147	166911147	NM_001165963.1:c.602+1G>A		NC_000002.11:g.166911147C>A,NC_000002.11:g.166911147C>G,NC_000002.11:g.166911147	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.474_602del129 (p.Thr160_Tyr202del)	6323	SCN1A	Pathogenic	-1	RCV000180828;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911148	166911276	NM_001165963.1:c.474_602del129	NP_001159435.1:p.Thr160_Tyr202del		-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.596C>G (p.Thr199Arg)	6323	SCN1A	not provided	121917983	RCV000059452;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911154	166911154	NM_006920.4:c.596C>G	NP_008851.3:p.Thr199Arg	NC_000002.11:g.166911154G>C	UniProtKB (variants):VAR_064347	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.580G>A (p.Asp194Asn)	6323	SCN1A	not provided	121917935	RCV000059451;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911170	166911170	NM_006920.4:c.580G>A	NP_008851.3:p.Asp194Asn	NC_000002.11:g.166911170C>T	UniProtKB (variants):VAR_064238	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.571A>T (p.Asn191Tyr)	6323	SCN1A	not provided	121918762	RCV000059550;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911179	166911179	NM_006920.4:c.571A>T	NP_008851.3:p.Asn191Tyr	NC_000002.11:g.166911179T>A	UniProtKB (variants):VAR_064237	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.568T>C (p.Trp190Arg)	6323	SCN1A	Pathogenic	121918773	RCV000059548;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911182	166911182	NM_006920.4:c.568T>C	NP_008851.3:p.Trp190Arg	NC_000002.11:g.166911182A>G	UniProtKB (variants):VAR_029665	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.530G>A (p.Gly177Glu)	6323	SCN1A	not provided	121918770	RCV000059538;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911220	166911220	NM_006920.4:c.530G>A	NP_008851.3:p.Gly177Glu	NC_000002.11:g.166911220C>A,NC_000002.11:g.166911220C>T	UniProtKB (variants):VAR_029664	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.530G>T (p.Gly177Val)	6323	SCN1A	Pathogenic	121918770	RCV000180856;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911220	166911220	NM_001165963.1:c.530G>T	NP_001159435.1:p.Gly177Val	NC_000002.11:g.166911220C>A,NC_000002.11:g.166911220C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.523G>A (p.Ala175Thr)	6323	SCN1A	not provided	121918767	RCV000059536;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911227	166911227	NM_006920.4:c.523G>A	NP_008851.3:p.Ala175Thr	NC_000002.11:g.166911227C>T	UniProtKB (variants):VAR_064236	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.512T>A (p.Ile171Lys)	6323	SCN1A	not provided	121918766	RCV000059532;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911238	166911238	NM_006920.4:c.512T>A	NP_008851.3:p.Ile171Lys	NC_000002.11:g.166911238A>T	UniProtKB (variants):VAR_064235	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.484A>C (p.Thr162Pro)	6323	SCN1A	not provided	121917934	RCV000059429;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166911266	166911266	NM_006920.4:c.484A>C	NP_008851.3:p.Thr162Pro	NC_000002.11:g.166911266T>G	UniProtKB (variants):VAR_064296	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.473+1G>C	6323	SCN1A	Pathogenic	794726840	RCV000180968;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166912920	166912920	NM_001165963.1:c.473+1G>C		NC_000002.11:g.166912920C>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.384_473del90 (p.Leu129_Glu158del)	6323	SCN1A	Pathogenic	-1	RCV000180986;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166912921	166913010	NM_001165963.1:c.384_473del90	NP_001159435.1:p.Leu129_Glu158del		-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.433A>G (p.Met145Val)	6323	SCN1A	Pathogenic	794726849	RCV000180980;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166912961	166912961	NM_001165963.1:c.433A>G	NP_001159435.1:p.Met145Val	NC_000002.11:g.166912961T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.384-1C>G	6323	SCN1A	Pathogenic	794726764	RCV000180880;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166913011	166913011	NM_001165963.1:c.384-1C>G		NC_000002.11:g.166913011G>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.383+1A>G	6323	SCN1A	Pathogenic	794726803	RCV000180921;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915079	166915079	NM_001165963.1:c.383+1A>G		NC_000002.11:g.166915079T>C	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.380A>T (p.His127Leu)	6323	SCN1A	Pathogenic	794726831	RCV000180958;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915083	166915083	NM_001165963.1:c.380A>T	NP_001159435.1:p.His127Leu	NC_000002.11:g.166915083T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.371T>A (p.Ile124Asn)	6323	SCN1A	not provided	121918761	RCV000059497;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915092	166915092	NM_006920.4:c.371T>A	NP_008851.3:p.Ile124Asn	NC_000002.11:g.166915092A>T	UniProtKB (variants):VAR_064234	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.354G>C (p.Arg118Ser)	6323	SCN1A	not provided	121917959	RCV000059401;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915109	166915109	NM_006920.4:c.354G>C	NP_008851.3:p.Arg118Ser	NC_000002.11:g.166915109C>G	UniProtKB (variants):VAR_043350	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.337C>A (p.Pro113Thr)	6323	SCN1A	Pathogenic	794726711	RCV000180815; RCV000188831;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002; MedGen:CN221809	2	166915126	166915126	NM_001165963.1:c.337C>A	NP_001159435.1:p.Pro113Thr	NC_000002.11:g.166915126G>T	-	CN221809 not provided; C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.335C>T (p.Thr112Ile)	6323	SCN1A	not provided	121918745	RCV000059492;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915128	166915128	NM_006920.4:c.335C>T	NP_008851.3:p.Thr112Ile	NC_000002.11:g.166915128G>A	UniProtKB (variants):VAR_029663	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.323T>C (p.Leu108Pro)	6323	SCN1A	Pathogenic	794726793	RCV000180910;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915140	166915140	NM_001165963.1:c.323T>C	NP_001159435.1:p.Leu108Pro	NC_000002.11:g.166915140A>G	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.308G>T (p.Ser103Ile)	6323	SCN1A	Pathogenic	760361423	RCV000180851;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915155	166915155	NM_001165963.1:c.308G>T	NP_001159435.1:p.Ser103Ile	NC_000002.11:g.166915155C>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.307A>G (p.Ser103Gly)	6323	SCN1A	not provided	121918743	RCV000059491;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915156	166915156	NM_006920.4:c.307A>G	NP_008851.3:p.Ser103Gly	NC_000002.11:g.166915156T>C	UniProtKB (variants):VAR_029662	C0751122 607208 Severe myoclonic epilepsy in infancy
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
NM_006920.4(SCN1A):c.301C>T (p.Arg101Trp)	6323	SCN1A	Pathogenic	121917965	RCV000059399;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915162	166915162	NM_006920.4:c.301C>T	NP_008851.3:p.Arg101Trp	NC_000002.11:g.166915162G>A	UniProtKB (variants):VAR_064233	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.289_292delAAGG (p.Lys97Profs)	6323	SCN1A	Pathogenic	794726796	RCV000180913;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915171	166915174	NM_001165963.1:c.289_292delAAGG	NP_001159435.1:p.Lys97Profs	NC_000002.11:g.166915171_166915174delCCTT	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.272T>C (p.Ile91Thr)	6323	SCN1A	Pathogenic	121918734	RCV000059474;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915191	166915191	NM_006920.4:c.272T>C	NP_008851.3:p.Ile91Thr	NC_000002.11:g.166915191A>G	UniProtKB (variants):VAR_064232	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser)	6323	SCN1A	Pathogenic	121918733	RCV000059473;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166915194	166915194	NM_006920.4:c.269T>C	NP_008851.3:p.Phe90Ser	NC_000002.11:g.166915194A>G	UniProtKB (variants):VAR_064231	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.264+5G>C	6323	SCN1A	Pathogenic	794726762	RCV000180877;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929863	166929863	NM_001165963.1:c.264+5G>C		NC_000002.11:g.166929863C>G,NC_000002.11:g.166929863C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.264+5G>A	6323	SCN1A	Pathogenic	794726762	RCV000201121;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929863	166929863	NM_001165963.1:c.264+5G>A		NC_000002.11:g.166929863C>G,NC_000002.11:g.166929863C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys)	6323	SCN1A	not provided	121917964	RCV000059392;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929881	166929881	NM_006920.4:c.251A>G	NP_008851.3:p.Tyr84Cys	NC_000002.11:g.166929881T>C	UniProtKB (variants):VAR_043349	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.249C>A (p.Tyr83Ter)	6323	SCN1A	Pathogenic	863225031	RCV000201161;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929883	166929883	NM_001165963.1:c.249C>A	NP_001159435.1:p.Tyr83Ter	NC_000002.11:g.166929883G>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.235G>C (p.Asp79His)	6323	SCN1A	not provided	121917982	RCV000059389;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929897	166929897	NM_006920.4:c.235G>C	NP_008851.3:p.Asp79His	NC_000002.11:g.166929897C>G	UniProtKB (variants):VAR_064346	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.234G>T (p.Glu78Asp)	6323	SCN1A	not provided	121917933	RCV000059388;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929898	166929898	NM_006920.4:c.234G>T	NP_008851.3:p.Glu78Asp	NC_000002.11:g.166929898C>A	UniProtKB (variants):VAR_029660	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_006920.4(SCN1A):c.187T>C (p.Phe63Leu)	6323	SCN1A	not provided	121917907	RCV000059385;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929945	166929945	NM_006920.4:c.187T>C	NP_008851.3:p.Phe63Leu	NC_000002.11:g.166929945A>G	UniProtKB (variants):VAR_064230	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.185delC (p.Pro62Hisfs)	6323	SCN1A	Pathogenic	794726791	RCV000180907;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166929947	166929947	NM_001165963.1:c.185delC	NP_001159435.1:p.Pro62Hisfs	NC_000002.11:g.166929947delG	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.121A>T (p.Lys41Ter)	6323	SCN1A	Pathogenic	764444350	RCV000180846;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166930011	166930011	NM_001165963.1:c.121A>T	NP_001159435.1:p.Lys41Ter	NC_000002.11:g.166930011T>A	-	C0751122 607208 Severe myoclonic epilepsy in infancy
NM_001165963.1(SCN1A):c.70G>A (p.Ala24Thr)	6323	SCN1A	Pathogenic	794726848	RCV000180979;	N	MedGen:C0751122,OMIM:607208,SNOMED CT:230437002	2	166930062	166930062	NM_001165963.1:c.70G>A	NP_001159435.1:p.Ala24Thr	NC_000002.11:g.166930062C>T	-	C0751122 607208 Severe myoclonic epilepsy in infancy