MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Hereditary Sensory and Autonomic Neuropathies (D009477)
..Starting node
..expand
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)

       Child Nodes:



 Sister Nodes: 
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCervical hypertrichosis neuropathy (C537956)
..expandDysautonomia, Familial (D004402) Child1
..expandHamanishi Ueba Tsuji syndrome (C535624)
..expandHereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
..expandNeuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8850
Name:NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
Definition:
Alternative IDs:DO:DOID:0070155
ParentIDs:MESH:D009477
TreeNumbers:C10.500.250/201300 |C10.574.500.493/201300 |C10.668.829.800.175/201300 |C16.131.666.310/201300 |C16.320.400.415/201300
Synonyms:ACROOSTEOLYSIS, GIACCAI TYPE |ACROOSTEOLYSIS, NEUROGENIC |HSAN2A |HSAN IIA |HSN2A |HSN IIA |MORVAN DISEASE |NEUROPATHY, CONGENITAL SENSORY |NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE |NEUROPATHY, HEREDITARY SENSORY, TYPE IIA |NEUROPATHY, PROGRES
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 201300
MeSH: 201300
OMIM: 201300;
MSeqDR LSDB:  
Genes: WNK1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006121Acral ulceration leading to autoamputation of digits
3 HP:0003593Infantile onset
4 HP:0001939Abnormality of metabolism/homeostasis
5 HP:0000478Abnormality of the eye
NAMDC:  Ophthalmologic
6 HP:0000970Anhidrosis
7 HP:0001284Areflexia
8 HP:0000762Decreased nerve conduction velocity
9 HP:0003380Decreased number of peripheral myelinated nerve fibers
10 HP:0003448Decreased sensory nerve conduction velocity
11 HP:0000224Decreased taste sensation
12 HP:0001069Episodic hyperhidrosis
13 HP:0008872Feeding difficulties in infancy
14 HP:0001842Foot acroosteolysis
15 HP:0002020Gastroesophageal reflux
16 HP:0001290Generalized hypotonia
17 HP:0001265Hyporeflexia
18 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
19 HP:0009771Osteolytic defects of the phalanges of the hand
20 HP:0002661Painless fractures due to injury
21 HP:0001818Paronychia
22 HP:0009830Peripheral neuropathy
23 HP:0003677Slow progression
Disease Causing ClinVar Variants
<
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.11:g.(?_165946660)_(167168266_?)del-1CSRNP3;GALNT3;SCN1A;SCN2A;SCN3Conflicting interpretations of pathogenicity-1RCV001362895|RCV001381177|RCV001387893|RCV001390921|RCV001871956; NMedGen:CN517202|MONDO:MONDO:0011904,MedGen:C1843140,OMIM:607745, Orphanet:140927, Orphanet:306; MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721, Orphanet:1934|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,O2165946660167168266-1-
NC_000002.12:g.(?_165090130)_(166311776_?)dup-1GALNT3;CSRNP3;SCN1A;SCN2A;SCN3Uncertain significance-1RCV001032318|RCV001365121|RCV001324549|RCV001300704; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721, Orphanet:1934; MONDO:MONDO:0011904,MedGen:C1843140,OMIM:607745, Orphanet:140927, Orphanet:306|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Or2165946640167168286-1-
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs)547KIF1APathogenicrs587778798RCV000023086|RCV000056120; NMONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97022416575282416575292:g.241657528_241657529insGClinGen:CA345210,OMIM:601255.0003C2752089 201300 Hereditary sensory and autonomic neuropathy type IIA;
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)547KIF1AUncertain significancers199574770RCV000236636|RCV000719157|RCV000764388|RCV001068459; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C539383022416585062416585062:g.241658506C>TClinGen:CA2207170CN169374 not specified;
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)547KIF1AUncertain significancers369839651RCV001196137|RCV002491594; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:22416585322416585322:g.241658532C>T-
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)547KIF1AConflicting interpretations of pathogenicityrs376658420RCV000517273|RCV000639790|RCV000764391|RCV000718224; NMedGen:CN517202|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MON2241659257241659257NC_000002.11:g.241659257C>TClinGen:CA2207239C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)547KIF1AConflicting interpretations of pathogenicityrs200141437RCV000195190|RCV000513801|RCV000538003|RCV000764392|RCV001262253; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,2241659285241659285NC_000002.11:g.241659285C>TClinGen:CA209849C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)547KIF1AConflicting interpretations of pathogenicityrs377032453RCV000639789|RCV000764393|RCV001143357|RCV001334235|RCV001811132|RCV002334103; NMONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:001363422416593032416593032:g.241659303C>TClinGen:CA2207251C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)547KIF1AUncertain significance-1RCV001822820|RCV001869777|RCV002478060; NMedGen:CN169374|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MON2241660449241660449241660449-
NM_001244008.2(KIF1A):c.4537C>G (p.Leu1513Val)547KIF1AUncertain significancers2045537723RCV001196311; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97022416620012416620012:g.241662001G>C-
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=)547KIF1ALikely benign-1RCV001474585|RCV002350973|RCV002495706; NMONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orp2241666333241666333241666333-
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)547KIF1AUncertain significancers368577433RCV000547002|RCV001195845|RCV002497122; NMONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:00124762241680765241680765NC_000002.11:g.241680765G>AClinGen:CA2207706C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.3640+12C>T547KIF1AConflicting interpretations of pathogenicityrs1403885809RCV001196026|RCV002069277; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:61425522416823342416823342:g.241682334G>A-
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln)547KIF1AUncertain significance-1RCV001560921|RCV002495894; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:1010102241682377241682377241682377-
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)547KIF1AConflicting interpretations of pathogenicityrs35698242RCV000213625|RCV000540329|RCV000764395|RCV000718021|RCV001847946|RCV002247667; NMedGen:CN517202|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MON22416834492416834492:g.241683449A>GClinGen:CA2207781C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.3064-13C>T547KIF1AConflicting interpretations of pathogenicityrs779347174RCV001198619|RCV002071853; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:61425522416856072416856072:g.241685607G>A-
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)547KIF1APathogenicrs587778791RCV000023085|RCV000056104|RCV000639798; NMONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:22416967542416967542:g.241696754_241696754delClinGen:CA345189,OMIM:601255.0002C2752089 201300 Hereditary sensory and autonomic neuropathy type IIA;
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His)547KIF1AUncertain significancers373042822RCV000639802|RCV000764398|RCV001310792; NMONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213, Orphanet:970; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:001247622417126472417126472:g.241712647C>TClinGen:CA2208546C3280168 614213 Hereditary sensory and autonomic neuropathy type IIC;
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)547KIF1APathogenic/Likely pathogenicrs879253888RCV000236491|RCV000623278|RCV000763486|RCV000995795|RCV001857794; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357, Orphanet:101010; MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013634,MedGen:C328016822417231942417231942:g.241723194G>AClinGen:CA10584198,OMIM:601255.0012C0950123 Inborn genetic diseases;
NM_001244008.2(KIF1A):c.653A>G (p.His218Arg)547KIF1APathogenic-1RCV002250075; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702241724473241724473241724473-
NM_001244008.2(KIF1A):c.527C>T (p.Pro176Leu)547KIF1AUncertain significancers2054754659RCV001196327; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97022417258332417258332:g.241725833G>A-
NM_001244008.2(KIF1A):c.393C>A (p.Asn131Lys)547KIF1AUncertain significancers35139906RCV001197891; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97022417267042417267042:g.241726704G>T-
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)54463RETREG1Benign/Likely benignrs34432513RCV000290526|RCV000431969|RCV000545765|RCV002482894; NMONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115, Orphanet:970|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115, Orphanet:970516475209164752095:g.16475209G>CClinGen:CA341801,UniProtKB:Q9H6L5#VAR_032422C0020072 Hereditary sensory and autonomic neuropathy type II;
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr)54463RETREG1Uncertain significancers370636928RCV000814148|RCV002478894; NMedGen:CN517202|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115, Orphanet:970; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970516478964164789645:g.16478964C>G-
NC_000002.11:g.(?_166929868)_(167056374_?)dup-1SCN1A;SCN1A-AS1;SCN9AUncertain significance-1RCV000708260|RCV001338734; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872166929868167056374-C0393706 Early infantile epileptic encephalopathy;
NC_000002.11:g.(?_166897721)_(167163604_?)dup-1SCN1A;SCN9AUncertain significance-1RCV001916373|RCV001940048; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19342166897721167163604-1-
NC_000002.12:g.(?_166195185)_(166204464_?)del6335SCN9AUncertain significance-1RCV000466638; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167051695167060974-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NC_000002.11:g.(?_167055172)_(167060984_?)del6335SCN9APathogenic-1RCV001387896; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055172167060984-1-
NM_001365536.1(SCN9A):c.5963A>G (p.Lys1988Arg)6335SCN9AUncertain significancers780795130RCV001219905; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670551861670551862:g.167055186T>C-
NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly)6335SCN9AUncertain significancers200785571RCV000526962|RCV002358559; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167055193167055193NC_000002.11:g.167055193T>CClinGen:CA1943590C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5953G>A (p.Glu1985Lys)6335SCN9AUncertain significancers777230063RCV001035188; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670551961670551962:g.167055196C>T-
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg)6335SCN9AConflicting interpretations of pathogenicityrs201640210RCV000728376|RCV001080041; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670552001670552002:g.167055200G>CClinGen:CA1943593C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)6335SCN9AUncertain significancers770802841RCV000647781|RCV000765520; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|6 conditions2167055201167055201NC_000002.11:g.167055201C>AClinGen:CA1943594C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)6335SCN9AConflicting interpretations of pathogenicityrs199822303RCV000800311|RCV001134340|RCV001134341|RCV001134342|RCV001508456|RCV002352354; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or21670552041670552042:g.167055204T>A-
NM_001365536.1(SCN9A):c.5929G>A (p.Glu1977Lys)6335SCN9AUncertain significancers1553472666RCV000815546; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670552201670552202:g.167055220C>T-
NM_001365536.1(SCN9A):c.5928G>A (p.Lys1976=)6335SCN9ALikely benign-1RCV001501972; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055221167055221167055221-
NM_001365536.1(SCN9A):c.5926A>G (p.Lys1976Glu)6335SCN9AUncertain significancers1034452097RCV000475552; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055223167055223NC_000002.11:g.167055223T>CClinGen:CA16610253C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5923G>C (p.Glu1975Gln)6335SCN9AUncertain significancers1693322530RCV001220823; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670552261670552262:g.167055226C>G-
NM_001365536.1(SCN9A):c.5921C>T (p.Thr1974Ile)6335SCN9AUncertain significancers1693322753RCV001309502; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055228167055228167055228-
NM_001365536.1(SCN9A):c.5918G>C (p.Arg1973Thr)6335SCN9AUncertain significance-1RCV002026498; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055231167055231167055231-
NM_001365536.1(SCN9A):c.5916C>T (p.Asp1972=)6335SCN9ALikely benignrs1553472678RCV000528956; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055233167055233NC_000002.11:g.167055233G>AClinGen:CA429977508C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5915A>G (p.Asp1972Gly)6335SCN9AUncertain significance-1RCV001967147; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055234167055234167055234-
NM_001365536.1(SCN9A):c.5910A>T (p.Glu1970Asp)6335SCN9AUncertain significance-1RCV001967939; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055239167055239167055239-
NM_001365536.1(SCN9A):c.5904_5906dup (p.Tyr1969Ter)6335SCN9AUncertain significancers1574690079RCV000796288; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670552421670552432:g.167055242_167055243insTAT-
NM_001365536.1(SCN9A):c.5907T>C (p.Tyr1969=)6335SCN9ALikely benign-1RCV001396245; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055242167055242167055242-
NM_001365536.1(SCN9A):c.5906A>G (p.Tyr1969Cys)6335SCN9AUncertain significance-1RCV001881051; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055243167055243167055243-
NM_001365536.1(SCN9A):c.5897_5900dup (p.Lys1968fs)6335SCN9AUncertain significancers1060502049RCV000464133; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055248167055249NC_000002.11:g.167055250_167055253dupClinGen:CA16610254C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5901G>C (p.Glu1967Asp)6335SCN9AUncertain significance-1RCV001871180; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055248167055248167055248-
NM_001365536.1(SCN9A):c.5899G>T (p.Glu1967Ter)6335SCN9AUncertain significance-1RCV001373458; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055250167055250167055250-
NM_001365536.1(SCN9A):c.5880T>C (p.Ser1960=)6335SCN9ALikely benignrs773385236RCV000862501; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670552691670552692:g.167055269A>G-
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)6335SCN9ALikely pathogenicrs1060502047RCV000467475; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055273167055273NC_000002.11:g.167055273T>GClinGen:CA16610170C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5873_5874del (p.Ser1957_Tyr1958insTer)6335SCN9AUncertain significancers778976900RCV001054017; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670552751670552762:g.167055275_167055276del-
NM_001365536.1(SCN9A):c.5873A>G (p.Tyr1958Cys)6335SCN9AUncertain significance-1RCV001957711; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055276167055276167055276-
NM_001365536.1(SCN9A):c.5868T>A (p.Pro1956=)6335SCN9ALikely benign-1RCV001491783; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055281167055281167055281-
NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile)6335SCN9AUncertain significancers1222885641RCV001174605|RCV001300847; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670552911670552912:g.167055291G>A-
NM_001365536.1(SCN9A):c.5852C>A (p.Ser1951Tyr)6335SCN9AUncertain significance-1RCV002303852; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055297167055297167055297-
NM_001365536.1(SCN9A):c.5850A>C (p.Ser1950=)6335SCN9ALikely benign-1RCV001446441; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055299167055299167055299-
NM_001365536.1(SCN9A):c.5840_5842dup (p.Asp1947dup)6335SCN9AUncertain significancers1422307721RCV001049718; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553061670553072:g.167055306_167055307insCAT-
NM_001365536.1(SCN9A):c.5841T>C (p.Asp1947=)6335SCN9ALikely benign-1RCV002154998; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055308167055308167055308-
NM_001365536.1(SCN9A):c.5839G>C (p.Asp1947His)6335SCN9AUncertain significancers1553472744RCV000647789; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670553101670553102:g.167055310C>GClinGen:CA349051379C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5836dup (p.Thr1946fs)6335SCN9AUncertain significancers1558938569RCV001040742; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553121670553132:g.167055312_167055313insT-
NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg)6335SCN9AUncertain significancers760097843RCV001229269|RCV002356983|RCV002497779; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0009459,M21670553121670553122:g.167055312G>C-
NM_001365536.1(SCN9A):c.5834A>G (p.Lys1945Arg)6335SCN9AUncertain significancers1558938578RCV000698271; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553151670553152:g.167055315T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)6335SCN9AUncertain significancers371454107RCV000525486|RCV000765521; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions21670553291670553292:g.167055329G>CClinGen:CA349051423C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5820C>T (p.Asn1940=)6335SCN9ALikely benign-1RCV002188300; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055329167055329167055329-
NM_001365536.1(SCN9A):c.5817G>T (p.Glu1939Asp)6335SCN9AUncertain significancers1060502051RCV000464843; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055332167055332NC_000002.11:g.167055332C>AClinGen:CA16610173C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5815G>A (p.Glu1939Lys)6335SCN9AUncertain significancers752262872RCV000806998|RCV002352389; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670553341670553342:g.167055334C>T-
NM_001365536.1(SCN9A):c.5799T>C (p.Ala1933=)6335SCN9ALikely benign-1RCV001423052; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055350167055350167055350-
NM_001365536.1(SCN9A):c.5796G>A (p.Met1932Ile)6335SCN9AUncertain significancers1693330912RCV001346478; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055353167055353167055353-
NM_001365536.1(SCN9A):c.5795T>C (p.Met1932Thr)6335SCN9AUncertain significancers1021905006RCV001036012; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553541670553542:g.167055354A>G-
NM_001365536.1(SCN9A):c.5792A>T (p.Asp1931Val)6335SCN9AUncertain significancers1693331271RCV001069244; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553571670553572:g.167055357T>A-
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His)6335SCN9AConflicting interpretations of pathogenicityrs200410805RCV000516721|RCV000727314|RCV001085887|RCV002350138; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167055358167055358NC_000002.11:g.167055358C>GClinGen:CA1943614C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5791G>T (p.Asp1931Tyr)6335SCN9AUncertain significancers200410805RCV001048732; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553581670553582:g.167055358C>A-
NM_001365536.1(SCN9A):c.5783A>G (p.Asn1928Ser)6335SCN9AUncertain significancers1412831204RCV000797294; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670553661670553662:g.167055366T>C-
NM_001365536.1(SCN9A):c.5771A>G (p.Asp1924Gly)6335SCN9AUncertain significancers1693332752RCV001314663; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055378167055378167055378-
NM_001365536.1(SCN9A):c.5768A>T (p.Asp1923Val)6335SCN9AUncertain significancers1467666059RCV001339177; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055381167055381167055381-
NM_001365536.1(SCN9A):c.5766A>G (p.Arg1922=)6335SCN9ALikely benign-1RCV002074867; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055383167055383167055383-
NM_001365536.1(SCN9A):c.5763C>G (p.Asp1921Glu)6335SCN9AUncertain significancers1693333716RCV001049288; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553861670553862:g.167055386G>C-
NM_001365536.1(SCN9A):c.5762A>T (p.Asp1921Val)6335SCN9AUncertain significancers910761183RCV001038617; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553871670553872:g.167055387T>A-
NM_001365536.1(SCN9A):c.5758G>A (p.Gly1920Arg)6335SCN9AUncertain significancers373922665RCV000806852; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670553911670553912:g.167055391C>T-
NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr)6335SCN9AUncertain significancers200876442RCV000080040|RCV000647782|RCV001329017; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670553991670553992:g.167055399A>GClinGen:CA221954C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5746_5749delinsAACT (p.Tyr1916_Ile1917delinsAsnLeu)6335SCN9AUncertain significancers1553472800RCV000558045; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055400167055403NC_000002.11:g.167055400_167055403delinsAGTTClinGen:CA658657117C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5748C>T (p.Tyr1916=)6335SCN9ALikely benign-1RCV001502229; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055401167055401167055401-
NM_001365536.1(SCN9A):c.5745A>C (p.Ile1915=)6335SCN9ALikely benign-1RCV002202553; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055404167055404167055404-
NM_001365536.1(SCN9A):c.5741G>A (p.Ser1914Asn)6335SCN9AUncertain significance-1RCV002022496; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055408167055408167055408-
NM_001365536.1(SCN9A):c.5735_5739del (p.Ile1912fs)6335SCN9AUncertain significancers768125863RCV001053101; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554101670554142:g.167055410_167055414del-
NM_001365536.1(SCN9A):c.5734A>G (p.Ile1912Val)6335SCN9AUncertain significancers1693336186RCV001204550; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554151670554152:g.167055415T>C-
NM_001365536.1(SCN9A):c.5727C>A (p.Val1909=)6335SCN9ALikely benign-1RCV002114313; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055422167055422167055422-
NM_001365536.1(SCN9A):c.5725G>A (p.Val1909Ile)6335SCN9AUncertain significancers1693337035RCV001220168; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554241670554242:g.167055424C>T-
NM_001365536.1(SCN9A):c.5724T>C (p.Asn1908=)6335SCN9ALikely benign-1RCV001439035; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055425167055425167055425-
NM_001365536.1(SCN9A):c.5710C>T (p.Arg1904Cys)6335SCN9AUncertain significancers372083483RCV000706818; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055439167055439NC_000002.11:g.167055439G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5710C>A (p.Arg1904Ser)6335SCN9AUncertain significancers372083483RCV001224612; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554391670554392:g.167055439G>T-
NM_001365536.1(SCN9A):c.5709C>T (p.Tyr1903=)6335SCN9ALikely benign-1RCV002196658; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055440167055440167055440-
NM_001365536.1(SCN9A):c.5708A>G (p.Tyr1903Cys)6335SCN9AUncertain significancers1693338494RCV001301656; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055441167055441167055441-
NM_001365536.1(SCN9A):c.5705G>A (p.Arg1902His)6335SCN9AUncertain significancers180949263RCV000816210|RCV002345868; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670554441670554442:g.167055444C>T-
NM_001365536.1(SCN9A):c.5705G>T (p.Arg1902Leu)6335SCN9AUncertain significance-1RCV001872163; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055444167055444167055444-
NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys)6335SCN9AConflicting interpretations of pathogenicityrs200956485RCV000647756|RCV001329016; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554451670554452:g.167055445G>AClinGen:CA1943632C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5699A>T (p.Tyr1900Phe)6335SCN9AUncertain significancers201796657RCV000532866|RCV001755862|RCV002350328; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C09501232167055450167055450NC_000002.11:g.167055450T>AClinGen:CA1943633C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5697T>C (p.Ala1899=)6335SCN9ALikely benignrs1338674674RCV000875946|RCV001413031; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554521670554522:g.167055452A>G-
NM_001365536.1(SCN9A):c.5696C>T (p.Ala1899Val)6335SCN9AUncertain significance-1RCV002044021; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055453167055453167055453-
NM_001365536.1(SCN9A):c.5693G>A (p.Arg1898His)6335SCN9AUncertain significance-1RCV001993541; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055456167055456167055456-
NM_001365536.1(SCN9A):c.5692C>T (p.Arg1898Cys)6335SCN9AUncertain significancers577823520RCV000811790; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670554571670554572:g.167055457G>A-
NM_001365536.1(SCN9A):c.5692C>A (p.Arg1898Ser)6335SCN9AUncertain significance-1RCV002026725|RCV002346306; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167055457167055457167055457-
NM_001365536.1(SCN9A):c.5681C>G (p.Thr1894Ser)6335SCN9AUncertain significancers1264234784RCV000802884|RCV001592992; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554681670554682:g.167055468G>C-
NM_001365536.1(SCN9A):c.5675C>A (p.Ser1892Tyr)6335SCN9AUncertain significancers746965222RCV000814673|RCV002345862; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670554741670554742:g.167055474G>T-
NM_001365536.1(SCN9A):c.5671G>A (p.Val1891Met)6335SCN9AUncertain significance-1RCV001367986; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055478167055478167055478-
NM_001365536.1(SCN9A):c.5668G>T (p.Asp1890Tyr)6335SCN9AUncertain significance-1RCV001878485; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055481167055481167055481-
NM_001365536.1(SCN9A):c.5664A>G (p.Gln1888=)6335SCN9ALikely benignrs367719041RCV000866158; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554851670554852:g.167055485T>C-
NM_001365536.1(SCN9A):c.5657G>A (p.Arg1886Gln)6335SCN9AUncertain significancers774488202RCV000554288; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670554921670554922:g.167055492C>TClinGen:CA1943642C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5656C>T (p.Arg1886Trp)6335SCN9AUncertain significance-1RCV001958346; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055493167055493167055493-
NM_001365536.1(SCN9A):c.5649A>G (p.Thr1883=)6335SCN9ALikely benignrs1574691120RCV000941739|RCV001472019; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670555001670555002:g.167055500T>C-
NM_001365536.1(SCN9A):c.5636C>G (p.Pro1879Arg)6335SCN9AUncertain significancers1574691128RCV000800027; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670555131670555132:g.167055513G>C-
NM_001365536.1(SCN9A):c.5634A>T (p.Glu1878Asp)6335SCN9AUncertain significancers1693343500RCV001230524; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670555151670555152:g.167055515T>A-
NM_001365536.1(SCN9A):c.5626T>C (p.Ser1876Pro)6335SCN9AUncertain significancers1255439531RCV001306214; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055523167055523167055523-
NM_001365536.1(SCN9A):c.5620A>G (p.Lys1874Glu)6335SCN9AUncertain significancers1553472893RCV001048348; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670555291670555292:g.167055529T>C-
NM_001365536.1(SCN9A):c.5615C>T (p.Pro1872Leu)6335SCN9AUncertain significancers879254298RCV000235306|RCV000647754; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670555341670555342:g.167055534G>AClinGen:CA10584156C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5602A>C (p.Met1868Leu)6335SCN9AUncertain significancers776299330RCV001057466; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670555471670555472:g.167055547T>G-
NM_001365536.1(SCN9A):c.5588T>A (p.Met1863Lys)6335SCN9AUncertain significancers201561928RCV001050166; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670555611670555612:g.167055561A>T-
NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)6335SCN9AUncertain significancers201561928RCV001198008|RCV001242219|RCV001751362; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670555611670555612:g.167055561A>G-
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)6335SCN9AConflicting interpretations of pathogenicityrs199572382RCV000826990|RCV001088977|RCV001128822|RCV001135810|RCV001135811; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,O21670555631670555632:g.167055563C>T-
NM_001365536.1(SCN9A):c.5579G>A (p.Arg1860His)6335SCN9AUncertain significance-1RCV001362067; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055570167055570167055570-
NM_001365536.1(SCN9A):c.5578C>T (p.Arg1860Cys)6335SCN9AUncertain significance-1RCV001366694|RCV001751724; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167055571167055571167055571-
NM_001365536.1(SCN9A):c.5573C>T (p.Ser1858Phe)6335SCN9AUncertain significance-1RCV001363507; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055576167055576167055576-
NM_001365536.1(SCN9A):c.5568_5569delinsTT (p.Met1856_Asp1857delinsIleTyr)6335SCN9AUncertain significancers1693346843RCV001243752; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055580167055581NC_000002.11:g.167055580_167055581delinsAA-
NM_001365536.1(SCN9A):c.5560G>A (p.Gly1854Arg)6335SCN9AUncertain significance-1RCV001360330; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055589167055589167055589-
NM_001365536.1(SCN9A):c.5556G>T (p.Glu1852Asp)6335SCN9AUncertain significancers1693347992RCV001316617; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055593167055593167055593-
NM_001365536.1(SCN9A):c.5555A>G (p.Glu1852Gly)6335SCN9AUncertain significancers201483184RCV000555370; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055594167055594NC_000002.11:g.167055594T>CClinGen:CA349052358C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5555A>C (p.Glu1852Ala)6335SCN9AUncertain significancers201483184RCV000707304|RCV001729693; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:97021670555941670555942:g.167055594T>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5542C>T (p.Arg1848Cys)6335SCN9AUncertain significancers1381335907RCV000806688; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670556071670556072:g.167055607G>A-
NM_001365536.1(SCN9A):c.5542C>G (p.Arg1848Gly)6335SCN9AUncertain significancers1381335907RCV001212762; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556071670556072:g.167055607G>C-
NM_001365536.1(SCN9A):c.5542C>A (p.Arg1848Ser)6335SCN9AUncertain significance-1RCV001980948|RCV002307824; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167055607167055607167055607-
NM_001365536.1(SCN9A):c.5508C>A (p.Ile1836=)6335SCN9ALikely benignrs747340707RCV000647813|RCV002343330; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167055641167055641NC_000002.11:g.167055641G>TClinGen:CA429977225C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5504G>A (p.Arg1835Gln)6335SCN9AUncertain significancers769295581RCV001309980; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055645167055645167055645-
NM_001365536.1(SCN9A):c.5503C>T (p.Arg1835Trp)6335SCN9AUncertain significancers200608140RCV000805568; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670556461670556462:g.167055646G>A-
NM_001365536.1(SCN9A):c.5496T>C (p.Ser1832=)6335SCN9ALikely benign-1RCV002097173; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055653167055653167055653-
NM_001365536.1(SCN9A):c.5493T>G (p.Val1831=)6335SCN9ALikely benignrs1261742033RCV000954058|RCV001439884; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556561670556562:g.167055656A>C-
NM_001365536.1(SCN9A):c.5492T>C (p.Val1831Ala)6335SCN9AUncertain significancers1693352141RCV001211993|RCV002348696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670556571670556572:g.167055657A>G-
NM_001365536.1(SCN9A):c.5492T>G (p.Val1831Gly)6335SCN9AUncertain significance-1RCV001365822; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055657167055657167055657-
NM_001365536.1(SCN9A):c.5491G>T (p.Val1831Phe)6335SCN9AUncertain significancers200196731RCV001217435; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556581670556582:g.167055658C>A-
NM_001365536.1(SCN9A):c.5487C>A (p.Pro1829=)6335SCN9ALikely benignrs751325279RCV000933058|RCV001501454; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556621670556622:g.167055662G>T-
NM_001365536.1(SCN9A):c.5477T>G (p.Met1826Arg)6335SCN9AUncertain significance-1RCV001919828; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055672167055672167055672-
NM_001365536.1(SCN9A):c.5474C>A (p.Ala1825Asp)6335SCN9AUncertain significance-1RCV001983912; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055675167055675167055675-
NM_001365536.1(SCN9A):c.5469C>T (p.Leu1823=)6335SCN9ALikely benign-1RCV002088218; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055680167055680167055680-
NM_001365536.1(SCN9A):c.5467C>T (p.Leu1823Phe)6335SCN9AUncertain significancers752580340RCV001049445; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556821670556822:g.167055682G>A-
NM_001365536.1(SCN9A):c.5456A>T (p.Asn1819Ile)6335SCN9AUncertain significancers778928947RCV001210579; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670556931670556932:g.167055693T>A-
NM_001365536.1(SCN9A):c.5456A>G (p.Asn1819Ser)6335SCN9AUncertain significancers778928947RCV001304167; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055693167055693167055693-
NM_001365536.1(SCN9A):c.5446G>A (p.Ala1816Thr)6335SCN9AUncertain significancers1574691835RCV000792376; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670557031670557032:g.167055703C>T-
NM_001365536.1(SCN9A):c.5443A>C (p.Ile1815Leu)6335SCN9AUncertain significance-1RCV002048076; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055706167055706167055706-
NM_001365536.1(SCN9A):c.5437C>T (p.Leu1813Phe)6335SCN9AUncertain significancers1558939435RCV000695359; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670557121670557122:g.167055712G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5425C>G (p.Leu1809Val)6335SCN9AUncertain significancers199954555RCV000700523|RCV000788893; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167055724167055724NC_000002.11:g.167055724G>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5408_5409del (p.Leu1802_Ser1803insTer)6335SCN9AUncertain significancers945489250RCV001345756; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055740167055741167055739-
NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys)6335SCN9AUncertain significancers372311962RCV000691878|RCV002499233; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or21670557411670557412:g.167055741G>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5404C>T (p.Leu1802Phe)6335SCN9AUncertain significance-1RCV001367101; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055745167055745167055745-
NM_001365536.1(SCN9A):c.5403A>T (p.Lys1801Asn)6335SCN9AUncertain significancers748702835RCV000541499; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055746167055746NC_000002.11:g.167055746T>AClinGen:CA1943684C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5402A>C (p.Lys1801Thr)6335SCN9AUncertain significance-1RCV001909557; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055747167055747167055747-
NM_001365536.1(SCN9A):c.5393A>C (p.Glu1798Ala)6335SCN9AUncertain significancers200745478RCV001337298; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055756167055756167055756-
NM_001365536.1(SCN9A):c.5389A>C (p.Ile1797Leu)6335SCN9AUncertain significance-1RCV001903416; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055760167055760167055760-
NM_001365536.1(SCN9A):c.5376T>A (p.Asp1792Glu)6335SCN9AUncertain significancers1479850648RCV001205065; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670557731670557732:g.167055773A>T-
NM_001365536.1(SCN9A):c.5374G>A (p.Asp1792Asn)6335SCN9AUncertain significance-1RCV001996582; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055775167055775167055775-
NM_001365536.1(SCN9A):c.5374G>T (p.Asp1792Tyr)6335SCN9AUncertain significance-1RCV001986133; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055775167055775167055775-
NM_001365536.1(SCN9A):c.5373C>T (p.Pro1791=)6335SCN9ALikely benign-1RCV001422885; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055776167055776167055776-
NM_001365536.1(SCN9A):c.5371C>A (p.Pro1791Thr)6335SCN9AUncertain significancers1693360658RCV001221469|RCV001815517; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670557781670557782:g.167055778G>T-
NM_001365536.1(SCN9A):c.5369A>T (p.Asp1790Val)6335SCN9AUncertain significance-1RCV001912824; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055780167055780167055780-
NM_001365536.1(SCN9A):c.5363A>G (p.Lys1788Arg)6335SCN9AUncertain significancers1391662990RCV001217683; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670557861670557862:g.167055786T>C-
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)6335SCN9APathogenicrs1553473041RCV000526746; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055798167055798NC_000002.11:g.167055798delClinGen:CA658657118C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5350G>C (p.Glu1784Gln)6335SCN9AUncertain significancers1358961500RCV001246683; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670557991670557992:g.167055799C>G-
NM_001365536.1(SCN9A):c.5349T>C (p.Tyr1783=)6335SCN9ALikely benignrs199696636RCV000647826|RCV002343333; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167055800167055800NC_000002.11:g.167055800A>GClinGen:CA1943689C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5348A>G (p.Tyr1783Cys)6335SCN9AUncertain significance-1RCV001372579; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055801167055801167055801-
NM_001365536.1(SCN9A):c.5345T>C (p.Phe1782Ser)6335SCN9AUncertain significancers1693362825RCV001213332; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670558041670558042:g.167055804A>G-
NM_001365536.1(SCN9A):c.5338G>A (p.Glu1780Lys)6335SCN9AUncertain significancers1266432360RCV001338437; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055811167055811167055811-
NM_001365536.1(SCN9A):c.5334C>T (p.Asp1778=)6335SCN9ALikely benignrs201196474RCV000647805|RCV002343329; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167055815167055815NC_000002.11:g.167055815G>AClinGen:CA1943692C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5329G>A (p.Asp1777Asn)6335SCN9AUncertain significancers1398450641RCV001201753; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670558201670558202:g.167055820C>T-
NM_001365536.1(SCN9A):c.5324G>A (p.Ser1775Asn)6335SCN9AUncertain significance-1RCV002024265; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055825167055825167055825-
NM_001365536.1(SCN9A):c.5322G>C (p.Leu1774=)6335SCN9ALikely benign-1RCV002078504; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055827167055827167055827-
NM_001365536.1(SCN9A):c.5318C>T (p.Pro1773Leu)6335SCN9AUncertain significancers1693364869RCV001050939; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670558311670558312:g.167055831G>A-
NM_001365536.1(SCN9A):c.5316A>C (p.Glu1772Asp)6335SCN9AUncertain significancers1553473075RCV000552783; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670558331670558332:g.167055833T>GClinGen:CA349053608C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5304A>G (p.Glu1768=)6335SCN9ALikely benign-1RCV001399377; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055845167055845167055845-
NM_001365536.1(SCN9A):c.5291G>C (p.Ser1764Thr)6335SCN9AUncertain significance-1RCV001939194; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055858167055858167055858-
NM_001365536.1(SCN9A):c.5278C>T (p.Leu1760=)6335SCN9ALikely benign-1RCV002217533; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055871167055871167055871-
NM_001365536.1(SCN9A):c.5277A>G (p.Ile1759Met)6335SCN9AUncertain significancers1574692415RCV000813456; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670558721670558722:g.167055872T>C-
NM_001365536.1(SCN9A):c.5276T>G (p.Ile1759Arg)6335SCN9AUncertain significance-1RCV001360969; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055873167055873167055873-
NM_001365536.1(SCN9A):c.5272G>A (p.Val1758Ile)6335SCN9AUncertain significancers1574692435RCV000805855|RCV002336637; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670558771670558772:g.167055877C>T-
NM_001365536.1(SCN9A):c.5270C>T (p.Ala1757Val)6335SCN9AUncertain significance-1RCV001359172; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055879167055879167055879-
NM_001365536.1(SCN9A):c.5267T>C (p.Ile1756Thr)6335SCN9AUncertain significance-1RCV001367321; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055882167055882167055882-
NM_001365536.1(SCN9A):c.5261T>C (p.Met1754Thr)6335SCN9AUncertain significancers1574692455RCV000800464; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670558881670558882:g.167055888A>G-
NM_001365536.1(SCN9A):c.5258A>C (p.Asn1753Thr)6335SCN9AUncertain significancers1693368310RCV001047043; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670558911670558912:g.167055891T>G-
NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=)6335SCN9ALikely benign-1RCV001406731; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055893167055893167055893-
NM_001365536.1(SCN9A):c.5256G>C (p.Val1752=)6335SCN9ALikely benign-1RCV001494047; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055893167055893167055893-
NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)6335SCN9ABenign/Likely benignrs200636760RCV000876914|RCV002495324; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO21670559041670559042:g.167055904G>A-
NM_001365536.1(SCN9A):c.5245C>G (p.Leu1749Val)6335SCN9AUncertain significance-1RCV001973659; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055904167055904167055904-
NM_001365536.1(SCN9A):c.5235C>A (p.Ile1745=)6335SCN9AConflicting interpretations of pathogenicityrs794727440RCV000176735|RCV002056953; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670559141670559142:g.167055914G>TClinGen:CA242769CN169374 not specified;
NM_001365536.1(SCN9A):c.5220T>C (p.Phe1740=)6335SCN9ALikely benignrs200817449RCV000943495|RCV001464049; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670559291670559292:g.167055929A>G-
NM_001365536.1(SCN9A):c.5216A>G (p.Tyr1739Cys)6335SCN9AUncertain significancers1289136487RCV000803942; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670559331670559332:g.167055933T>C-
NM_001365536.1(SCN9A):c.5212T>G (p.Phe1738Val)6335SCN9AUncertain significancers763972874RCV000647779|RCV002334171; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167055937167055937NC_000002.11:g.167055937A>CClinGen:CA1943711C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5207G>C (p.Gly1736Ala)6335SCN9AUncertain significancers776586182RCV000434741|RCV000702888; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670559421670559422:g.167055942C>GClinGen:CA1943712C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5198C>T (p.Pro1733Leu)6335SCN9AUncertain significance-1RCV001908159; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055951167055951167055951-
NM_001365536.1(SCN9A):c.5197C>T (p.Pro1733Ser)6335SCN9AUncertain significancers751682235RCV000527550; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055952167055952NC_000002.11:g.167055952G>AClinGen:CA1943716C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5187C>G (p.Asp1729Glu)6335SCN9AUncertain significancers202208945RCV001234302; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670559621670559622:g.167055962G>C-
NM_001365536.1(SCN9A):c.5182G>A (p.Gly1728Arg)6335SCN9AUncertain significancers1553473134RCV001240114; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670559671670559672:g.167055967C>T-
NM_001365536.1(SCN9A):c.5176G>T (p.Val1726Phe)6335SCN9AUncertain significancers1161512007RCV000647769; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055973167055973NC_000002.11:g.167055973C>AClinGen:CA349054382C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5171G>C (p.Ser1724Thr)6335SCN9AUncertain significance-1RCV002297410; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055978167055978167055978-
NM_001365536.1(SCN9A):c.5168G>T (p.Gly1723Val)6335SCN9AUncertain significance-1RCV001933493; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167055981167055981167055981-
NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser)6335SCN9AUncertain significancers201264153RCV001216710|RCV001508457|RCV001329015; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670559851670559852:g.167055985G>A-
NM_001365536.1(SCN9A):c.5161C>A (p.His1721Asn)6335SCN9AUncertain significancers372887865RCV000647750; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055988167055988NC_000002.11:g.167055988G>TClinGen:CA1943719C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5158G>T (p.Val1720Phe)6335SCN9AUncertain significancers1303872643RCV000695352; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670559911670559912:g.167055991C>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5157A>T (p.Lys1719Asn)6335SCN9AUncertain significancers749848631RCV001046435|RCV002473177; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221670559921670559922:g.167055992T>A-
NM_001365536.1(SCN9A):c.5152A>G (p.Lys1718Glu)6335SCN9AUncertain significancers199806034RCV000469647; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167055997167055997NC_000002.11:g.167055997T>CClinGen:CA1943723C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5149C>G (p.Pro1717Ala)6335SCN9AUncertain significancers1693375833RCV001237712; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670560001670560002:g.167056000G>C-
NM_001365536.1(SCN9A):c.5146G>A (p.Asp1716Asn)6335SCN9AUncertain significancers1693375977RCV001342148|RCV001773682; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167056003167056003167056003-
NM_001365536.1(SCN9A):c.5144G>A (p.Cys1715Tyr)6335SCN9AUncertain significancers1314852955RCV000692142; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056005167056005NC_000002.11:g.167056005C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5142C>T (p.Asp1714=)6335SCN9ALikely benign-1RCV001492567; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056007167056007167056007-
NM_001365536.1(SCN9A):c.5141A>C (p.Asp1714Ala)6335SCN9AUncertain significancers938958211RCV001313759; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056008167056008167056008-
NM_001365536.1(SCN9A):c.5140G>A (p.Asp1714Asn)6335SCN9AUncertain significancers200733722RCV000549310|RCV001764587|RCV002341405; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN517202|MeSH:D030342,MedGen:C09501232167056009167056009NC_000002.11:g.167056009C>TClinGen:CA1943724C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5139C>A (p.Pro1713=)6335SCN9ALikely benign-1RCV001459285; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056010167056010167056010-
NM_001365536.1(SCN9A):c.5112_5123del (p.Ala1705_Leu1708del)6335SCN9AUncertain significance-1RCV001992506; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056026167056037167056025-
NM_001365536.1(SCN9A):c.5111T>A (p.Leu1704Gln)6335SCN9AUncertain significance-1RCV002300243; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056038167056038167056038-
NM_001365536.1(SCN9A):c.5110C>T (p.Leu1704=)6335SCN9ALikely benign-1RCV002157753; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056039167056039167056039-
NM_001365536.1(SCN9A):c.5109G>A (p.Leu1703=)6335SCN9ALikely benign-1RCV002155703; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056040167056040167056040-
NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter)6335SCN9APathogenic-1RCV001380256; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056049167056049167056049-
NM_001365536.1(SCN9A):c.5096G>T (p.Gly1699Val)6335SCN9AUncertain significancers761880427RCV001050130; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670560531670560532:g.167056053C>A-
NM_001365536.1(SCN9A):c.5096G>A (p.Gly1699Asp)6335SCN9AUncertain significance-1RCV001966642; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056053167056053167056053-
NM_001365536.1(SCN9A):c.5087C>A (p.Thr1696Asn)6335SCN9AUncertain significancers1693379308RCV001226245; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670560621670560622:g.167056062G>T-
NM_001365536.1(SCN9A):c.5086A>T (p.Thr1696Ser)6335SCN9AUncertain significancers879254140RCV000236789|RCV001232842; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670560631670560632:g.167056063T>AClinGen:CA10584160CN169374 not specified;
NM_001365536.1(SCN9A):c.5086A>G (p.Thr1696Ala)6335SCN9AUncertain significancers879254140RCV001059472; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670560631670560632:g.167056063T>C-
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs)6335SCN9APathogenicrs1320568689RCV001236101; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670560671670560672:g.167056067_167056067del-
NM_001365536.1(SCN9A):c.5049C>T (p.Thr1683=)6335SCN9ALikely benign-1RCV001496174; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056100167056100167056100-
NM_001365536.1(SCN9A):c.5030A>T (p.Asp1677Val)6335SCN9AUncertain significancers1553473210RCV000517571|RCV000534246; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056119167056119NC_000002.11:g.167056119T>AClinGen:CA349054875C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5028T>C (p.Asn1676=)6335SCN9ALikely benignrs1553473212RCV000528625|RCV002350326; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167056121167056121NC_000002.11:g.167056121A>GClinGen:CA429977730C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5019T>C (p.Asp1673=)6335SCN9ALikely benignrs752918053RCV000647821|RCV002343332; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167056130167056130NC_000002.11:g.167056130A>GClinGen:CA1943735C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5018A>G (p.Asp1673Gly)6335SCN9AUncertain significance-1RCV001369710; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056131167056131167056131-
NM_001365536.1(SCN9A):c.5018A>C (p.Asp1673Ala)6335SCN9AUncertain significance-1RCV001359532; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056131167056131167056131-
NM_001365536.1(SCN9A):c.5015A>G (p.Glu1672Gly)6335SCN9AUncertain significancers200042812RCV001308452|RCV002341618; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167056134167056134167056134-
NM_001365536.1(SCN9A):c.5010A>G (p.Lys1670=)6335SCN9ALikely benignrs764559105RCV000456172|RCV002341093; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167056139167056139NC_000002.11:g.167056139T>CClinGen:CA1943737C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter)6335SCN9APathogenic/Likely pathogenic-1RCV002035247|RCV002334967; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167056141167056141167056141-
NM_001365536.1(SCN9A):c.5004T>A (p.Tyr1668Ter)6335SCN9APathogenic-1RCV001381126; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056145167056145167056145-
NM_001365536.1(SCN9A):c.5004T>G (p.Tyr1668Ter)6335SCN9APathogenic-1RCV001939451; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056145167056145167056145-
NM_001365536.1(SCN9A):c.5003A>G (p.Tyr1668Cys)6335SCN9AUncertain significance-1RCV001960030; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056146167056146167056146-
NM_001365536.1(SCN9A):c.4994A>G (p.Asn1665Ser)6335SCN9AUncertain significance-1RCV002000534; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056155167056155167056155-
NM_001365536.1(SCN9A):c.4991C>A (p.Ser1664Tyr)6335SCN9AUncertain significance-1RCV001961789; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056158167056158167056158-
NM_001365536.1(SCN9A):c.4987A>G (p.Met1663Val)6335SCN9AUncertain significancers757798263RCV000696916; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670561621670561622:g.167056162T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4986A>G (p.Gly1662=)6335SCN9ALikely benign-1RCV001427610; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056163167056163167056163-
NM_001365536.1(SCN9A):c.4974C>T (p.Tyr1658=)6335SCN9ALikely benignrs757858235RCV000865710|RCV001481228; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670561751670561752:g.167056175G>A-
NM_001365536.1(SCN9A):c.4968C>T (p.Phe1656=)6335SCN9ALikely benignrs779521437RCV000548949|RCV002341404; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670561811670561812:g.167056181G>AClinGen:CA1943743C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4967T>C (p.Phe1656Ser)6335SCN9AUncertain significancers1693386075RCV001236166; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670561821670561822:g.167056182A>G-
NM_001365536.1(SCN9A):c.4965G>T (p.Met1655Ile)6335SCN9AUncertain significancers200166620RCV000235894|RCV000802970; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056184167056184NC_000002.11:g.167056184C>AClinGen:CA10584161CN169374 not specified;
NM_001365536.1(SCN9A):c.4965G>A (p.Met1655Ile)6335SCN9AUncertain significancers200166620RCV000703478; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056184167056184NC_000002.11:g.167056184C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4959G>T (p.Leu1653=)6335SCN9ALikely benignrs768193278RCV000941729|RCV001493152; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670561901670561902:g.167056190C>A-
NM_001365536.1(SCN9A):c.4953C>G (p.Leu1651=)6335SCN9ALikely benignrs776545037RCV000713175|RCV002060892|RCV002343587; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167056196167056196NC_000002.11:g.167056196G>C-
NM_001365536.1(SCN9A):c.4951C>A (p.Leu1651Ile)6335SCN9AUncertain significancers1693387033RCV001063874; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670561981670561982:g.167056198G>T-
NM_001365536.1(SCN9A):c.4950G>C (p.Leu1650=)6335SCN9ALikely benign-1RCV001447654; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056199167056199167056199-
NM_001365536.1(SCN9A):c.4947C>T (p.Leu1649=)6335SCN9ALikely benign-1RCV001454248; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056202167056202167056202-
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=)6335SCN9AConflicting interpretations of pathogenicityrs747837371RCV000369808|RCV001469643|RCV002338850; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670562081670562082:g.167056208G>AClinGen:CA1943747CN169374 not specified;
NM_001365536.1(SCN9A):c.4935T>C (p.Phe1645=)6335SCN9ALikely benign-1RCV001440415; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056214167056214167056214-
NM_001365536.1(SCN9A):c.4932G>A (p.Leu1644=)6335SCN9ALikely benign-1RCV001494791; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056217167056217167056217-
NM_001365536.1(SCN9A):c.4930T>C (p.Leu1644=)6335SCN9ALikely benign-1RCV001470683; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056219167056219167056219-
NM_001365536.1(SCN9A):c.4929G>C (p.Ala1643=)6335SCN9ALikely benign-1RCV001414305; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056220167056220167056220-
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)6335SCN9AConflicting interpretations of pathogenicityrs199550149RCV000118310|RCV000240565|RCV001131480|RCV001086623|RCV001131479|RCV001131481|RCV002336258; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:00094521670562261670562262:g.167056226A>GClinGen:CA155139C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4923T>G (p.Leu1641=)6335SCN9ALikely benign-1RCV001494831; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056226167056226167056226-
NM_001365536.1(SCN9A):c.4901T>C (p.Leu1634Pro)6335SCN9AUncertain significancers1352376274RCV000804635; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670562481670562482:g.167056248A>G-
NM_001365536.1(SCN9A):c.4900C>T (p.Leu1634Phe)6335SCN9AUncertain significance-1RCV002011136; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056249167056249167056249-
NM_001365536.1(SCN9A):c.4896G>T (p.Thr1632=)6335SCN9ALikely benign-1RCV002130683; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056253167056253167056253-
NM_001365536.1(SCN9A):c.4892G>T (p.Arg1631Leu)6335SCN9AUncertain significancers201079869RCV000489681|RCV000697748|RCV002341157; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670562571670562572:g.167056257C>AClinGen:CA1943754C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4891C>T (p.Arg1631Cys)6335SCN9AUncertain significancers202155356RCV001039914; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670562581670562582:g.167056258G>A-
NM_001365536.1(SCN9A):c.4885G>A (p.Gly1629Arg)6335SCN9AUncertain significance-1RCV001998710; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056264167056264167056264-
NM_001365536.1(SCN9A):c.4884G>A (p.Lys1628=)6335SCN9ALikely benign-1RCV002109153; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056265167056265167056265-
NM_001365536.1(SCN9A):c.4881A>G (p.Ala1627=)6335SCN9ALikely benign-1RCV001493675; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056268167056268167056268-
NM_001365536.1(SCN9A):c.4879G>A (p.Ala1627Thr)6335SCN9AUncertain significancers1574693695RCV000817886; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670562701670562702:g.167056270C>T-
NM_001365536.1(SCN9A):c.4877G>C (p.Gly1626Ala)6335SCN9AUncertain significancers200364146RCV000534185; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167056272167056272NC_000002.11:g.167056272C>GClinGen:CA1943756C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4875A>G (p.Lys1625=)6335SCN9ALikely benign-1RCV002165036; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056274167056274167056274-
NM_001365536.1(SCN9A):c.4869_4870delinsGA (p.Val1624Ile)6335SCN9AUncertain significancers1553473301RCV000647762; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167056279167056280NC_000002.11:g.167056279_167056280delinsTCClinGen:CA658795949C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4866T>A (p.Arg1622=)6335SCN9ALikely benign-1RCV001496901; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056283167056283167056283-
NM_001365536.1(SCN9A):c.4863A>C (p.Leu1621=)6335SCN9ALikely benign-1RCV001487248; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056286167056286167056286-
NM_001365536.1(SCN9A):c.4856G>A (p.Arg1619Gln)6335SCN9AUncertain significancers142201175RCV001973891; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056293167056293167056293-
NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter)6335SCN9APathogenic-1RCV001388675|RCV001780365; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167056294167056294167056294-
NM_001365536.1(SCN9A):c.4848G>A (p.Arg1616=)6335SCN9ALikely benignrs1574693824RCV000936777|RCV001450265; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670563011670563012:g.167056301C>T-
NM_001365536.1(SCN9A):c.4847G>C (p.Arg1616Thr)6335SCN9AUncertain significancers754670164RCV001206696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670563021670563022:g.167056302C>G-
NM_001365536.1(SCN9A):c.4838G>A (p.Arg1613His)6335SCN9AUncertain significance-1RCV001369620; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056311167056311167056311-
NM_001365536.1(SCN9A):c.4836C>A (p.Ile1612=)6335SCN9ALikely benign-1RCV002184507; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056313167056313167056313-
NM_001365536.1(SCN9A):c.4836C>T (p.Ile1612=)6335SCN9ALikely benign-1RCV002189392; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056313167056313167056313-
NM_001365536.1(SCN9A):c.4832T>C (p.Val1611Ala)6335SCN9AUncertain significance-1RCV001958164; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056317167056317167056317-
NM_001365536.1(SCN9A):c.4829G>A (p.Arg1610Gln)6335SCN9AUncertain significancers1693395478RCV001231573; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670563201670563202:g.167056320C>T-
NM_001365536.1(SCN9A):c.4828C>T (p.Arg1610Ter)6335SCN9APathogenic-1RCV002012270; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056321167056321167056321-
NM_001365536.1(SCN9A):c.4827C>T (p.Phe1609=)6335SCN9ALikely benignrs760606370RCV000560293|RCV002341403; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167056322167056322NC_000002.11:g.167056322G>AClinGen:CA1943770C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4824G>T (p.Leu1608=)6335SCN9ALikely benign-1RCV001500340; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056325167056325167056325-
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)6335SCN9AUncertain significancers200470541RCV000118309|RCV000459242|RCV000765522|RCV001270089|RCV002336257; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670563291670563292:g.167056329G>AClinGen:CA231506C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs)6335SCN9APathogenicrs1693396597RCV001241449; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670563301670563302:g.167056330_167056330del-
NM_001365536.1(SCN9A):c.4819A>C (p.Thr1607Pro)6335SCN9AUncertain significance-1RCV002037390; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056330167056330167056330-
NM_001365536.1(SCN9A):c.4810G>C (p.Val1604Leu)6335SCN9AUncertain significance-1RCV001949822; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056339167056339167056339-
NM_001365536.1(SCN9A):c.4775-47_4803dup6335SCN9AUncertain significancers1693397438RCV001318840; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056345167056346167056345-
NM_001365536.1(SCN9A):c.4799A>G (p.Glu1600Gly)6335SCN9AUncertain significancers375946140RCV000823762; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670563501670563502:g.167056350T>C-
NM_001365536.1(SCN9A):c.4796T>C (p.Ile1599Thr)6335SCN9AUncertain significance-1RCV002028378; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056353167056353167056353-
NM_001365536.1(SCN9A):c.4795A>G (p.Ile1599Val)6335SCN9AUncertain significancers1055143422RCV001202812; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670563541670563542:g.167056354T>C-
NM_001365536.1(SCN9A):c.4794G>A (p.Leu1598=)6335SCN9ALikely benignrs1574694057RCV000976180|RCV001858600; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670563551670563552:g.167056355C>T-
NM_001365536.1(SCN9A):c.4792T>C (p.Leu1598=)6335SCN9ALikely benign-1RCV002078766; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056357167056357167056357-
NM_001365536.1(SCN9A):c.4790A>G (p.Asp1597Gly)6335SCN9AUncertain significance-1RCV001925045; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056359167056359167056359-
NM_001365536.1(SCN9A):c.4781T>G (p.Phe1594Cys)6335SCN9AUncertain significancers1693399734RCV001202696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670563681670563682:g.167056368A>C-
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr)6335SCN9AUncertain significancers754401649RCV001056658|RCV001535457; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Orph21670563711670563712:g.167056371A>G-
NM_001365536.1(SCN9A):c.4775-4A>G6335SCN9ALikely benign-1RCV001403842; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056378167056378167056378-
NM_001365536.1(SCN9A):c.4775-10C>T6335SCN9ALikely benign-1RCV002072758; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056384167056384167056384-
NM_001365536.1(SCN9A):c.4775-11T>C6335SCN9ALikely benign-1RCV002095645; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167056385167056385167056385-
NM_001365536.1(SCN9A):c.4774+19C>A6335SCN9ALikely benign-1RCV002133358; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060446167060446167060446-
NM_001365536.1(SCN9A):c.4774+16_4774+17delinsAC6335SCN9ALikely benign-1RCV002127978; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060448167060449167060448-
NM_001365536.1(SCN9A):c.4774+12del6335SCN9ALikely benign-1RCV002120219; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060453167060453167060452-
NM_001365536.1(SCN9A):c.4771G>A (p.Val1591Ile)6335SCN9AUncertain significance-1RCV001959846; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060468167060468167060468-
NM_001365536.1(SCN9A):c.4768A>C (p.Ile1590Leu)6335SCN9AUncertain significance-1RCV001968600; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060471167060471167060471-
NM_001365536.1(SCN9A):c.4767C>T (p.Ser1589=)6335SCN9ALikely benignrs200690956RCV000647825|RCV001477615|RCV002334172; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670604721670604722:g.167060472G>AClinGen:CA1943794C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4760T>C (p.Ile1587Thr)6335SCN9AUncertain significancers1338654503RCV001229084; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670604791670604792:g.167060479A>G-
NM_001365536.1(SCN9A):c.4756G>T (p.Val1586Leu)6335SCN9AUncertain significancers1192423407RCV001338245; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060483167060483167060483-
NM_001365536.1(SCN9A):c.4753G>A (p.Val1585Ile)6335SCN9AUncertain significance-1RCV002000518; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060486167060486167060486-
NM_001365536.1(SCN9A):c.4750G>T (p.Val1584Leu)6335SCN9AUncertain significance-1RCV002020192; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060489167060489167060489-
NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer)6335SCN9APathogenic-1RCV001383082; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060495167060496167060495-
NM_001365536.1(SCN9A):c.4739T>G (p.Ile1580Ser)6335SCN9AUncertain significancers1307977305RCV000707482; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605001670605002:g.167060500A>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4735A>G (p.Asn1579Asp)6335SCN9AUncertain significancers755887452RCV001067816; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605041670605042:g.167060504T>C-
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter)6335SCN9APathogenic/Likely pathogenicrs200070962RCV000604892|RCV000802734; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605061670605062:g.167060506C>TClinGen:CA59788871C0027889 Hereditary sensory and autonomic neuropathy;
NM_001365536.1(SCN9A):c.4728A>G (p.Val1576=)6335SCN9ALikely benign-1RCV001489415; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060511167060511167060511-
NM_001365536.1(SCN9A):c.4727T>C (p.Val1576Ala)6335SCN9AUncertain significance-1RCV001370567; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060512167060512167060512-
NM_001365536.1(SCN9A):c.4727T>G (p.Val1576Gly)6335SCN9AUncertain significance-1RCV001952400; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060512167060512167060512-
NM_001365536.1(SCN9A):c.4720T>G (p.Phe1574Val)6335SCN9AUncertain significance-1RCV001369304; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060519167060519167060519-
NM_001365536.1(SCN9A):c.4713C>T (p.His1571=)6335SCN9ALikely benign-1RCV002158059; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060526167060526167060526-
NM_001365536.1(SCN9A):c.4711C>A (p.His1571Asn)6335SCN9AUncertain significance-1RCV002016637; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060528167060528167060528-
NM_001365536.1(SCN9A):c.4710A>G (p.Arg1570=)6335SCN9ALikely benign-1RCV002206067; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060529167060529167060529-
NM_001365536.1(SCN9A):c.4707C>T (p.Leu1569=)6335SCN9ALikely benignrs745837064RCV000866608; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605321670605322:g.167060532G>A-
NM_001365536.1(SCN9A):c.4704C>T (p.Ser1568=)6335SCN9ALikely benignrs1299193372RCV000545473|RCV002341402; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670605351670605352:g.167060535G>AClinGen:CA429977442C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4702T>A (p.Ser1568Thr)6335SCN9AUncertain significance-1RCV002031384; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060537167060537167060537-
NM_001365536.1(SCN9A):c.4701C>T (p.Ile1567=)6335SCN9ALikely benignrs201067234RCV000534843|RCV002341401; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670605381670605382:g.167060538G>AClinGen:CA1943804C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4699A>G (p.Ile1567Val)6335SCN9AUncertain significancers1558944954RCV000704695; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060540167060540NC_000002.11:g.167060540T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4699A>T (p.Ile1567Phe)6335SCN9AUncertain significancers1558944954RCV001218888; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605401670605402:g.167060540T>A-
NM_001365536.1(SCN9A):c.4686T>C (p.Cys1562=)6335SCN9ALikely benignrs201655242RCV000934406|RCV001427010; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605531670605532:g.167060553A>G-
NM_001365536.1(SCN9A):c.4685G>A (p.Cys1562Tyr)6335SCN9AUncertain significancers770005392RCV001049117; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605541670605542:g.167060554C>T-
NM_001365536.1(SCN9A):c.4677T>C (p.Thr1559=)6335SCN9ALikely benignrs773380999RCV000862957|RCV001400957; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670605621670605622:g.167060562A>G-
NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=)6335SCN9ALikely benign-1RCV001448401|RCV001796500; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167060571167060571167060571-
NM_001365536.1(SCN9A):c.4668C>G (p.Ile1556Met)6335SCN9AUncertain significance-1RCV001994030; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060571167060571167060571-
NM_001365536.1(SCN9A):c.4665A>C (p.Ile1555=)6335SCN9ALikely benign-1RCV001392090; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060574167060574167060574-
NM_001365536.1(SCN9A):c.4663A>G (p.Ile1555Val)6335SCN9AUncertain significance-1RCV001371583; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060576167060576167060576-
NM_001365536.1(SCN9A):c.4658T>A (p.Val1553Asp)6335SCN9AUncertain significance-1RCV002022170; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060581167060581167060581-
NM_001365536.1(SCN9A):c.4658T>C (p.Val1553Ala)6335SCN9AUncertain significance-1RCV002051256; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060581167060581167060581-
NM_001365536.1(SCN9A):c.4656G>A (p.Val1552=)6335SCN9AUncertain significance-1RCV001359347; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060583167060583167060583-
NM_001365536.1(SCN9A):c.4656G>T (p.Val1552=)6335SCN9ALikely benign-1RCV001426685; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060583167060583167060583-
NM_001365536.1(SCN9A):c.4654G>A (p.Val1552Met)6335SCN9AUncertain significance-1RCV001364563; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060585167060585167060585-
NM_001365536.1(SCN9A):c.4652A>G (p.Asn1551Ser)6335SCN9AUncertain significance-1RCV001959975; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060587167060587167060587-
NM_001365536.1(SCN9A):c.4645_4646inv (p.Trp1549Gln)6335SCN9AUncertain significance-1RCV001950742|RCV002334947; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167060593167060594167060593-
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)6335SCN9ABenign/Likely benignrs202084411RCV000219331|RCV000307783|RCV000415823|RCV001086552|RCV001134461|RCV001134462|RCV002338694; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008172167060594167060594NC_000002.11:g.167060594A>GClinGen:CA1943813C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4645T>A (p.Trp1549Arg)6335SCN9ALikely benign-1RCV001493286; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060594167060594167060594-
NM_001365536.1(SCN9A):c.4644T>C (p.Tyr1548=)6335SCN9ALikely benign-1RCV001464213; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060595167060595167060595-
NM_001365536.1(SCN9A):c.4643A>G (p.Tyr1548Cys)6335SCN9AUncertain significance-1RCV002001296; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060596167060596167060596-
NM_001365536.1(SCN9A):c.4636G>A (p.Val1546Ile)6335SCN9AUncertain significancers1693674665RCV001322140; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060603167060603167060603-
NM_001365536.1(SCN9A):c.4629_4631delinsAGA (p.Met1543_Thr1544delinsIleAsp)6335SCN9AUncertain significancers1693675341RCV001243232; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167060608167060610NC_000002.11:g.167060608_167060610delinsTCT-
NM_001365536.1(SCN9A):c.4630A>C (p.Thr1544Pro)6335SCN9AUncertain significancers1228583442RCV001295332; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060609167060609167060609-
NM_001365536.1(SCN9A):c.4630A>G (p.Thr1544Ala)6335SCN9AUncertain significance-1RCV001883904; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060609167060609167060609-
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)6335SCN9AUncertain significancers200328637RCV000790200|RCV000797678; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670606101670606102:g.167060610C>T-
NM_001365536.1(SCN9A):c.4628T>A (p.Met1543Lys)6335SCN9AUncertain significance-1RCV002299600; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060611167060611167060611-
NM_001365536.1(SCN9A):c.4624C>T (p.His1542Tyr)6335SCN9AUncertain significancers1337886698RCV001065878; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606151670606152:g.167060615G>A-
NM_001365536.1(SCN9A):c.4621C>A (p.Gln1541Lys)6335SCN9AUncertain significancers1064796825RCV000481260|RCV000556379; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606181670606182:g.167060618G>TClinGen:CA16617321C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4618A>T (p.Ser1540Cys)6335SCN9AUncertain significancers202145429RCV001339750; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060621167060621167060621-
NM_001365536.1(SCN9A):c.4614T>C (p.Gly1538=)6335SCN9ALikely benignrs1250627204RCV000872333|RCV001492564; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606251670606252:g.167060625A>G-
NM_001365536.1(SCN9A):c.4598T>G (p.Met1533Arg)6335SCN9AUncertain significancers1201035224RCV001219492; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606411670606412:g.167060641A>C-
NM_001365536.1(SCN9A):c.4598T>C (p.Met1533Thr)6335SCN9AUncertain significance-1RCV001974398; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060641167060641167060641-
NM_001365536.1(SCN9A):c.4595T>C (p.Met1532Thr)6335SCN9AUncertain significancers1266662220RCV001048883; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606441670606442:g.167060644A>G-
NM_001365536.1(SCN9A):c.4593C>A (p.Thr1531=)6335SCN9ALikely benign-1RCV001421629; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060646167060646167060646-
NM_001365536.1(SCN9A):c.4585A>G (p.Met1529Val)6335SCN9AUncertain significance-1RCV001899712; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060654167060654167060654-
NM_001365536.1(SCN9A):c.4575C>G (p.Ile1525Met)6335SCN9AUncertain significancers961831587RCV001299806; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060664167060664167060664-
NM_001365536.1(SCN9A):c.4570C>T (p.Leu1524Phe)6335SCN9AUncertain significance-1RCV001954554; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060669167060669167060669-
NM_001365536.1(SCN9A):c.4567G>A (p.Val1523Ile)6335SCN9AUncertain significance-1RCV001982785; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060672167060672167060672-
NM_001365536.1(SCN9A):c.4563C>A (p.Ile1521=)6335SCN9ALikely benign-1RCV001500998; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060676167060676167060676-
NM_001365536.1(SCN9A):c.4561A>G (p.Ile1521Val)6335SCN9AUncertain significancers1301426130RCV000647751; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167060678167060678NC_000002.11:g.167060678T>CClinGen:CA349057892C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4545A>G (p.Gln1515=)6335SCN9ALikely benignrs1298398772RCV000871275|RCV001398767; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670606941670606942:g.167060694T>C-
NM_001365536.1(SCN9A):c.4537A>G (p.Thr1513Ala)6335SCN9AUncertain significance-1RCV001890877; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060702167060702167060702-
NM_001365536.1(SCN9A):c.4533A>G (p.Leu1511=)6335SCN9AConflicting interpretations of pathogenicityrs545627123RCV000997293|RCV001476105; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670607061670607062:g.167060706T>C-
NM_001365536.1(SCN9A):c.4523T>C (p.Ile1508Thr)6335SCN9AUncertain significancers1359777832RCV001327333; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060716167060716167060716-
NM_001365536.1(SCN9A):c.4522A>G (p.Ile1508Val)6335SCN9AUncertain significancers1268484614RCV001208015; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670607171670607172:g.167060717T>C-
NM_001365536.1(SCN9A):c.4512C>T (p.Ile1504=)6335SCN9ALikely benign-1RCV002219314; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060727167060727167060727-
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs)6335SCN9APathogenicrs1693682030RCV001209835; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670607291670607292:g.167060729_167060729del-
NM_001365536.1(SCN9A):c.4504-8C>A6335SCN9ALikely benign-1RCV002193022; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060743167060743167060743-
NM_001365536.1(SCN9A):c.4504-15_4504-10del6335SCN9AUncertain significance-1RCV002022218; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060745167060750167060744-
NM_001365536.1(SCN9A):c.4504-19T>C6335SCN9ALikely benign-1RCV002159471; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060754167060754167060754-
NM_001365536.1(SCN9A):c.4503+19C>G6335SCN9ALikely benign-1RCV002181573; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060851167060851167060851-
NM_001365536.1(SCN9A):c.4503+3dup6335SCN9ALikely benignrs759871579RCV000867245; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670608601670608612:g.167060860_167060861insT-
NM_001365536.1(SCN9A):c.4503+10T>A6335SCN9ALikely benign-1RCV002191493; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060860167060860167060860-
NM_001365536.1(SCN9A):c.4503+9del6335SCN9ALikely benignrs759871579RCV000871505|RCV001484161; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670608611670608612:g.167060861_167060861del-
NM_001365536.1(SCN9A):c.4503+8A>T6335SCN9ALikely benign-1RCV001419718; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060862167060862167060862-
NM_001365536.1(SCN9A):c.4503+5A>G6335SCN9AUncertain significancers757433463RCV000546380; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167060865167060865NC_000002.11:g.167060865T>CClinGen:CA1943850C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4503+1G>T6335SCN9AConflicting interpretations of pathogenicityrs746241591RCV000236300|RCV000694025|RCV002327156; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670608691670608692:g.167060869C>AClinGen:CA1943852C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4503+1G>A6335SCN9ALikely pathogenicrs746241591RCV000703027; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670608691670608692:g.167060869C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4503G>C (p.Gly1501=)6335SCN9AUncertain significance-1RCV001910799; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060870167060870167060870-
NM_001365536.1(SCN9A):c.4502G>A (p.Gly1501Glu)6335SCN9AUncertain significancers934276496RCV000804577; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670608711670608712:g.167060871C>T-
NM_001365536.1(SCN9A):c.4496G>A (p.Arg1499Gln)6335SCN9AUncertain significancers372320353RCV000794891; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670608771670608772:g.167060877C>T-
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter)6335SCN9AConflicting interpretations of pathogenicityrs187558439RCV000236436|RCV000697878|RCV001838994|RCV001838995; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,O2167060878167060878NC_000002.11:g.167060878G>AClinGen:CA1943855C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4480C>G (p.Gln1494Glu)6335SCN9AUncertain significancers201750475RCV000647775; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167060893167060893NC_000002.11:g.167060893G>CClinGen:CA1943859C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4477C>G (p.Pro1493Ala)6335SCN9AUncertain significance-1RCV001914856; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060896167060896167060896-
NM_001365536.1(SCN9A):c.4452A>C (p.Ala1484=)6335SCN9ALikely benign-1RCV001405736; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060921167060921167060921-
NM_001365536.1(SCN9A):c.4451C>A (p.Ala1484Glu)6335SCN9AUncertain significancers1693695985RCV001231666; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670609221670609222:g.167060922G>T-
NM_001365536.1(SCN9A):c.4449T>C (p.Asn1483=)6335SCN9ALikely benign-1RCV002189911; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060924167060924167060924-
NM_001365536.1(SCN9A):c.4444_4446del (p.Tyr1482del)6335SCN9AUncertain significancers752874418RCV001058409; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670609271670609292:g.167060927_167060929del-
NM_001365536.1(SCN9A):c.4434G>A (p.Gln1478=)6335SCN9ALikely benign-1RCV002082443; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060939167060939167060939-
NM_001365536.1(SCN9A):c.4430A>T (p.Glu1477Val)6335SCN9AUncertain significancers1553474386RCV000532360; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167060943167060943NC_000002.11:g.167060943T>AClinGen:CA349058361C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4428A>C (p.Glu1476Asp)6335SCN9AUncertain significancers200501298RCV000797091; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670609451670609452:g.167060945T>G-
NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)6335SCN9ALikely pathogenicrs1574706911RCV000986922; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670609461670609492:g.167060946_167060949del-
NM_001365536.1(SCN9A):c.4416C>T (p.Ile1472=)6335SCN9ALikely benign-1RCV001396370; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060957167060957167060957-
NM_001365536.1(SCN9A):c.4413C>T (p.Asp1471=)6335SCN9AConflicting interpretations of pathogenicityrs727504144RCV000153912|RCV001087392|RCV002326879; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670609601670609602:g.167060960G>AClinGen:CA234893CN169374 not specified;
NM_001365536.1(SCN9A):c.4406G>A (p.Gly1469Asp)6335SCN9AUncertain significance-1RCV001997309; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060967167060967167060967-
NM_001365536.1(SCN9A):c.4401T>C (p.Leu1467=)6335SCN9ALikely benign-1RCV002140839; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060972167060972167060972-
NM_001365536.1(SCN9A):c.4399-1C>T6335SCN9ALikely pathogenicrs1283839545RCV000793027; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670609751670609752:g.167060975G>A-
NM_001365536.1(SCN9A):c.4399-6_4399-3del6335SCN9AConflicting interpretations of pathogenicity-1RCV001421553|RCV001839043; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontol2167060977167060980167060976-
NM_001365536.1(SCN9A):c.4399-5T>G6335SCN9ALikely benign-1RCV002159356; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060979167060979167060979-
NM_001365536.1(SCN9A):c.4399-6C>A6335SCN9AConflicting interpretations of pathogenicityrs1553474406RCV000543902|RCV001453251|RCV002330933; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167060980167060980NC_000002.11:g.167060980G>TClinGen:CA658657119C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4399-10G>A6335SCN9ALikely benign-1RCV001417097; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060984167060984167060984-
NM_001365536.1(SCN9A):c.4399-17_4399-16insA6335SCN9ABenignrs569037217RCV000245241|RCV002058129; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167060990167060991NC_000002.11:g.167060990_167060991insTClinGen:CA1943877CN169374 not specified;
NC_000002.11:g.(?_167083067)_(167089982_?)del6335SCN9AUncertain significance-1RCV001916534; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083067167089982-1-
NM_001365536.1(SCN9A):c.4398+7A>G6335SCN9ALikely benignrs1574756110RCV000935790|RCV001484749; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670830701670830702:g.167083070T>C-
NM_001365536.1(SCN9A):c.4398+2T>C6335SCN9ALikely pathogenic-1RCV001379376; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083075167083075167083075-
NM_001365536.1(SCN9A):c.4388A>G (p.Gln1463Arg)6335SCN9AUncertain significancers201802776RCV001065635; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670830871670830872:g.167083087T>C-
NM_001365536.1(SCN9A):c.4374T>C (p.Asp1458=)6335SCN9ALikely benign-1RCV001465803; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083101167083101167083101-
NM_001365536.1(SCN9A):c.4373A>G (p.Asp1458Gly)6335SCN9AUncertain significance-1RCV001920238; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083102167083102167083102-
NM_001365536.1(SCN9A):c.4370T>C (p.Ile1457Thr)6335SCN9AUncertain significancers1694849428RCV001200255|RCV001296362; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670831051670831052:g.167083105A>G-
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)6335SCN9AUncertain significancers1362318488RCV000533535|RCV000765523; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|6 conditions2167083107167083107NC_000002.11:g.167083107G>CClinGen:CA349061886C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=)6335SCN9ALikely benign-1RCV001418912; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083107167083107167083107-
NM_001365536.1(SCN9A):c.4365C>T (p.Val1455=)6335SCN9ALikely benign-1RCV001425136; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083110167083110167083110-
NM_001365536.1(SCN9A):c.4364T>A (p.Val1455Asp)6335SCN9AUncertain significancers201049763RCV001343844; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083111167083111167083111-
NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr)6335SCN9AUncertain significancers1558963758RCV000700943|RCV001759396; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670831171670831172:g.167083117A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)6335SCN9ABenign/Likely benignrs201145311RCV000176475|RCV000468766|RCV001721110; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670831191670831192:g.167083119G>AClinGen:CA201950C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4354T>C (p.Phe1452Leu)6335SCN9AUncertain significance-1RCV001884620; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083121167083121167083121-
NM_001365536.1(SCN9A):c.4331G>A (p.Gly1444Glu)6335SCN9AUncertain significance-1RCV001968729; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083144167083144167083144-
NM_001365536.1(SCN9A):c.4317C>T (p.Val1439=)6335SCN9ALikely benignrs766643885RCV000868659; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670831581670831582:g.167083158G>A-
NM_001365536.1(SCN9A):c.4307A>C (p.Tyr1436Ser)6335SCN9AUncertain significancers1574756439RCV000801141; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670831681670831682:g.167083168T>G-
NM_001365536.1(SCN9A):c.4305T>G (p.Ile1435Met)6335SCN9AConflicting interpretations of pathogenicityrs200479892RCV000647748|RCV002060763; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221670831701670831702:g.167083170A>CClinGen:CA1943897C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4297A>C (p.Met1433Leu)6335SCN9AUncertain significance-1RCV001360727; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083178167083178167083178-
NM_001365536.1(SCN9A):c.4293C>T (p.Leu1431=)6335SCN9ALikely benignrs777397007RCV000539941|RCV002330932; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670831821670831822:g.167083182G>AClinGen:CA1943900C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4289G>A (p.Ser1430Asn)6335SCN9AUncertain significancers201479177RCV000235275|RCV000817874; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083186167083186NC_000002.11:g.167083186C>TClinGen:CA1943901CN169374 not specified;
NM_001365536.1(SCN9A):c.4285T>C (p.Tyr1429His)6335SCN9AUncertain significance-1RCV002301606; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083190167083190167083190-
NM_001365536.1(SCN9A):c.4277A>C (p.Lys1426Thr)6335SCN9AUncertain significance-1RCV002022034; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083198167083198167083198-
NM_001365536.1(SCN9A):c.4275C>A (p.Pro1425=)6335SCN9ALikely benignrs202040787RCV000936776; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670832001670832002:g.167083200G>T-
NM_001365536.1(SCN9A):c.4261-3T>C6335SCN9AUncertain significancers773953311RCV000500531|RCV000525375|RCV002329202; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167083217167083217NC_000002.11:g.167083217A>GClinGen:CA1943903C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4261-7T>G6335SCN9ALikely benign-1RCV001473909; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083221167083221167083221-
NM_001365536.1(SCN9A):c.4261-11A>T6335SCN9ALikely benign-1RCV002173311; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083225167083225167083225-
NM_001365536.1(SCN9A):c.4261-13G>C6335SCN9ALikely benign-1RCV001550104|RCV002072033; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167083227167083227167083227-
NM_001365536.1(SCN9A):c.4260T>C (p.Asn1420=)6335SCN9AUncertain significance-1RCV002044002; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084180167084180167084180-
NM_001365536.1(SCN9A):c.4258A>C (p.Asn1420His)6335SCN9AUncertain significancers1232902921RCV000822128; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670841821670841822:g.167084182T>G-
NM_001365536.1(SCN9A):c.4245A>C (p.Ala1415=)6335SCN9ALikely benign-1RCV001417339; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084195167084195167084195-
NM_001365536.1(SCN9A):c.4244C>T (p.Ala1415Val)6335SCN9AUncertain significancers1694897462RCV001306295; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084196167084196167084196-
NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr)6335SCN9AUncertain significancers1694897566RCV001198857; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670841971670841972:g.167084197C>T-
NM_001365536.1(SCN9A):c.4228A>T (p.Ile1410Phe)6335SCN9AUncertain significancers199996056RCV001317748|RCV001508458|RCV002329274; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C09501232167084212167084212167084212-
NM_001365536.1(SCN9A):c.4227G>A (p.Thr1409=)6335SCN9ALikely benignrs970261148RCV000647807|RCV001444837|RCV002331228; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670842131670842132:g.167084213C>TClinGen:CA59809692C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4226C>T (p.Thr1409Met)6335SCN9AUncertain significancers200763228RCV000647797|RCV002331227; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167084214167084214NC_000002.11:g.167084214G>AClinGen:CA1943920C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4211C>T (p.Thr1404Ile)6335SCN9AUncertain significance-1RCV001948979; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084229167084229167084229-
NM_001365536.1(SCN9A):c.4209A>G (p.Ala1403=)6335SCN9ALikely benignrs1553478842RCV000555999; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167084231167084231NC_000002.11:g.167084231T>CClinGen:CA429898779C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4207-5T>A6335SCN9AUncertain significancers1694899287RCV001236663; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670842381670842382:g.167084238A>T-
NM_001365536.1(SCN9A):c.4207-5T>C6335SCN9ALikely benign-1RCV001410655; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084238167084238167084238-
NM_001365536.1(SCN9A):c.4207-8T>C6335SCN9ALikely benign-1RCV001462001; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084241167084241167084241-
NM_001365536.1(SCN9A):c.4207-13G>A6335SCN9ALikely benign-1RCV002162950; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167084246167084246167084246-
NM_001365536.1(SCN9A):c.4206+18T>C6335SCN9ALikely benign-1RCV002185816; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085183167085183167085183-
NM_001365536.1(SCN9A):c.4206+12A>G6335SCN9ALikely benign-1RCV002208109; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085189167085189167085189-
NM_001365536.1(SCN9A):c.4206+11C>T6335SCN9ALikely benign-1RCV002124298; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085190167085190167085190-
NM_001365536.1(SCN9A):c.4206+9C>T6335SCN9ALikely benign-1RCV001407731; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085192167085192167085192-
NM_001365536.1(SCN9A):c.4206+6del6335SCN9AUncertain significance-1RCV001806622|RCV001885253; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085195167085195167085194-
NM_001365536.1(SCN9A):c.4206+3A>G6335SCN9AUncertain significancers1694951853RCV001295178|RCV002327634; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167085198167085198167085198-
NM_001365536.1(SCN9A):c.4205T>C (p.Val1402Ala)6335SCN9AUncertain significancers200266532RCV000465069; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167085202167085202NC_000002.11:g.167085202A>GClinGen:CA1943933C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4197G>A (p.Leu1399=)6335SCN9AConflicting interpretations of pathogenicityrs201258222RCV000598007|RCV001458311|RCV002331010; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670852101670852102:g.167085210C>TClinGen:CA1943934CN169374 not specified;
NM_001365536.1(SCN9A):c.4195_4196del (p.Leu1399fs)6335SCN9APathogenic-1RCV001881264; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085211167085212167085210-
NM_001365536.1(SCN9A):c.4190T>C (p.Leu1397Pro)6335SCN9AUncertain significancers1553479077RCV000539720; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670852171670852172:g.167085217A>GClinGen:CA349063220C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4189C>A (p.Leu1397Ile)6335SCN9AUncertain significancers199800370RCV000647783; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167085218167085218NC_000002.11:g.167085218G>TClinGen:CA59810203C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4184G>A (p.Gly1395Asp)6335SCN9AUncertain significancers764682998RCV000699277|RCV002282336; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN16937421670852231670852232:g.167085223C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4184G>T (p.Gly1395Val)6335SCN9AUncertain significance-1RCV001870754; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085223167085223167085223-
NM_001365536.1(SCN9A):c.4177G>A (p.Gly1393Arg)6335SCN9AUncertain significancers200371160RCV000431693|RCV001052598; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852301670852302:g.167085230C>TClinGen:CA1943936CN517202 not provided;
NM_001365536.1(SCN9A):c.4176C>T (p.Val1392=)6335SCN9ABenign/Likely benignrs558455181RCV000524857|RCV002330931; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167085231167085231NC_000002.11:g.167085231G>AClinGen:CA1943937C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4174G>A (p.Val1392Ile)6335SCN9AUncertain significancers1694953349RCV001067056; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852331670852332:g.167085233C>T-
NM_001365536.1(SCN9A):c.4171A>G (p.Asn1391Asp)6335SCN9AUncertain significance-1RCV001896001; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085236167085236167085236-
NM_001365536.1(SCN9A):c.4170T>C (p.Asp1390=)6335SCN9ALikely benign-1RCV001502168; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085237167085237167085237-
NM_001365536.1(SCN9A):c.4164C>T (p.Asn1388=)6335SCN9ALikely benign-1RCV001489574; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085243167085243167085243-
NM_001365536.1(SCN9A):c.4163A>G (p.Asn1388Ser)6335SCN9AUncertain significancers923385288RCV001313696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085244167085244167085244-
NM_001365536.1(SCN9A):c.4157A>G (p.Lys1386Arg)6335SCN9AUncertain significance-1RCV001929723; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085250167085250167085250-
NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln)6335SCN9AUncertain significancers199902747RCV000997294|RCV001041147; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852511670852512:g.167085251T>G-
NM_001365536.1(SCN9A):c.4148A>G (p.Lys1383Arg)6335SCN9AUncertain significancers779536952RCV000194859|RCV000551270; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852591670852592:g.167085259T>CClinGen:CA209307C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4147A>G (p.Lys1383Glu)6335SCN9AUncertain significancers746847417RCV001070974; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852601670852602:g.167085260T>C-
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)6335SCN9AConflicting interpretations of pathogenicityrs200610689RCV000540930|RCV001128931|RCV001128930|RCV001128932; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or2167085264167085264NC_000002.11:g.167085264T>CClinGen:CA59810250C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4142G>A (p.Arg1381Gln)6335SCN9AUncertain significancers202050216RCV000701982; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670852651670852652:g.167085265C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4140G>A (p.Val1380=)6335SCN9ALikely benignrs1553479103RCV000647803|RCV002325287; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167085267167085267NC_000002.11:g.167085267C>TClinGen:CA429899129C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4139T>C (p.Val1380Ala)6335SCN9AUncertain significancers113161460RCV000703482; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085268167085268NC_000002.11:g.167085268A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)6335SCN9AUncertain significancers1413202256RCV001062488|RCV001535657; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Orph21670852791670852792:g.167085279A>G-
NM_001365536.1(SCN9A):c.4122G>A (p.Met1374Ile)6335SCN9AUncertain significancers759465659RCV000821268; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670852851670852852:g.167085285C>T-
NM_001365536.1(SCN9A):c.4120A>C (p.Met1374Leu)6335SCN9AUncertain significancers888969159RCV001320317; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085287167085287167085287-
NM_001365536.1(SCN9A):c.4117C>T (p.Leu1373Phe)6335SCN9AUncertain significancers772369756RCV001242057; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670852901670852902:g.167085290G>A-
NM_001365536.1(SCN9A):c.4112T>C (p.Phe1371Ser)6335SCN9AUncertain significancers1694956942RCV001326763; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085295167085295167085295-
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)6335SCN9AConflicting interpretations of pathogenicityrs199673396RCV000346265|RCV001081052|RCV002321958; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670852971670852972:g.167085297A>GClinGen:CA1943949C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4105G>A (p.Glu1369Lys)6335SCN9AUncertain significancers1298235055RCV001344360; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085302167085302167085302-
NM_001365536.1(SCN9A):c.4104C>T (p.Ser1368=)6335SCN9ALikely benign-1RCV002128155; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085303167085303167085303-
NM_001365536.1(SCN9A):c.4102T>C (p.Ser1368Pro)6335SCN9AUncertain significance-1RCV001969639; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085305167085305167085305-
NM_001365536.1(SCN9A):c.4100G>A (p.Arg1367His)6335SCN9AConflicting interpretations of pathogenicityrs200566017RCV000686026|RCV002325356; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670853071670853072:g.167085307C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4093C>G (p.Pro1365Ala)6335SCN9AUncertain significancers1694958415RCV001244516; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670853141670853142:g.167085314G>C-
NM_001365536.1(SCN9A):c.4089A>G (p.Gln1363=)6335SCN9AUncertain significancers201364115RCV000822872; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670853181670853182:g.167085318T>C-
NM_001365536.1(SCN9A):c.4082C>A (p.Ala1361Glu)6335SCN9AUncertain significance-1RCV001964496; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085325167085325167085325-
NM_001365536.1(SCN9A):c.4077T>C (p.Phe1359=)6335SCN9ALikely benignrs1205678504RCV000762062|RCV001088559; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167085330167085330NC_000002.11:g.167085330A>G-
NM_001365536.1(SCN9A):c.4076T>C (p.Phe1359Ser)6335SCN9AUncertain significance-1RCV002297464; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085331167085331167085331-
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln)6335SCN9AConflicting interpretations of pathogenicityrs200163716RCV000176293|RCV000647757|RCV002321697; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670853341670853342:g.167085334C>TClinGen:CA242197C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4073G>C (p.Arg1358Pro)6335SCN9AUncertain significancers200163716RCV000810230|RCV002325578; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670853341670853342:g.167085334C>G-
NM_001365536.1(SCN9A):c.4070C>T (p.Ser1357Leu)6335SCN9AUncertain significance-1RCV001362469|RCV002377516; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167085337167085337167085337-
NM_001365536.1(SCN9A):c.4066G>T (p.Gly1356Trp)6335SCN9AUncertain significancers1574761622RCV000813819; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670853411670853412:g.167085341C>A-
NM_001365536.1(SCN9A):c.4063G>A (p.Asp1355Asn)6335SCN9AUncertain significancers1458573948RCV001313719; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085344167085344167085344-
NM_001365536.1(SCN9A):c.4062A>G (p.Thr1354=)6335SCN9ALikely benign-1RCV001413114; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085345167085345167085345-
NM_001365536.1(SCN9A):c.4059C>T (p.Thr1353=)6335SCN9ALikely benign-1RCV001490475; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085348167085348167085348-
NM_001365536.1(SCN9A):c.4055A>C (p.Asn1352Thr)6335SCN9AUncertain significancers1553479173RCV000547361; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167085352167085352NC_000002.11:g.167085352T>GClinGen:CA349063911C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4054A>G (p.Asn1352Asp)6335SCN9AUncertain significancers1694962022RCV001317333; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085353167085353167085353-
NM_001365536.1(SCN9A):c.4047G>A (p.Glu1349=)6335SCN9ALikely benign-1RCV001457503; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085360167085360167085360-
NM_001365536.1(SCN9A):c.4046A>T (p.Glu1349Val)6335SCN9AUncertain significancers1694962515RCV001313820; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085361167085361167085361-
NM_001365536.1(SCN9A):c.4043A>G (p.Tyr1348Cys)6335SCN9AUncertain significancers587780456RCV000118306|RCV001053070|RCV002354302; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670853641670853642:g.167085364T>CClinGen:CA231503CN517202 not provided;
NM_001365536.1(SCN9A):c.4040T>C (p.Phe1347Ser)6335SCN9AUncertain significancers1694963049RCV001229669; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670853671670853672:g.167085367A>G-
NM_001365536.1(SCN9A):c.4037A>G (p.Lys1346Arg)6335SCN9AUncertain significance-1RCV002040664; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085370167085370167085370-
NM_001365536.1(SCN9A):c.4035C>A (p.Gly1345=)6335SCN9ALikely benign-1RCV002108301; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085372167085372167085372-
NM_001365536.1(SCN9A):c.4025T>C (p.Leu1342Ser)6335SCN9AUncertain significance-1RCV001923198; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085382167085382167085382-
NM_001365536.1(SCN9A):c.4021A>C (p.Asn1341His)6335SCN9AUncertain significancers777811075RCV000537306; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167085386167085386NC_000002.11:g.167085386T>GClinGen:CA1943962C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4009A>C (p.Ile1337Leu)6335SCN9AConflicting interpretations of pathogenicityrs543167736RCV000520985|RCV000558811; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670853981670853982:g.167085398T>GClinGen:CA1943964C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4008C>T (p.Ser1336=)6335SCN9ALikely benign-1RCV002190336; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085399167085399167085399-
NM_001365536.1(SCN9A):c.4006A>G (p.Ser1336Gly)6335SCN9AUncertain significancers1694964953RCV001302862; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085401167085401167085401-
NM_001365536.1(SCN9A):c.4005C>G (p.Phe1335Leu)6335SCN9AUncertain significance-1RCV002304860; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085402167085402167085402-
NM_001365536.1(SCN9A):c.3997C>T (p.Leu1333=)6335SCN9ALikely benignrs1553479207RCV000647822|RCV002358850; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670854101670854102:g.167085410G>AClinGen:CA429899377C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3997C>G (p.Leu1333Val)6335SCN9AUncertain significance-1RCV002298203; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085410167085410167085410-
NM_001365536.1(SCN9A):c.3996G>T (p.Trp1332Cys)6335SCN9AUncertain significancers1553479210RCV001316173; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085411167085411167085411-
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter)6335SCN9APathogenicrs1553479216RCV000623974|RCV001208470; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670854121670854122:g.167085412C>TClinGen:CA349064370C0950123 Inborn genetic diseases;
NM_001365536.1(SCN9A):c.3989T>C (p.Ile1330Thr)6335SCN9AUncertain significance-1RCV002299486; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085418167085418167085418-
NM_001365536.1(SCN9A):c.3975A>G (p.Leu1325=)6335SCN9ALikely benignrs199988325RCV000549423|RCV002377128; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670854321670854322:g.167085432T>CClinGen:CA1943968C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3971T>C (p.Val1324Ala)6335SCN9AUncertain significancers765757819RCV001239965; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670854361670854362:g.167085436A>G-
NM_001365536.1(SCN9A):c.3964A>G (p.Met1322Val)6335SCN9AUncertain significancers563367690RCV001302656; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085443167085443167085443-
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)6335SCN9APathogenicrs121908913RCV000006731|RCV000691966|RCV001090456; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221670854791670854792:g.167085479C>AClinGen:CA118149,OMIM:603415.0011C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile)6335SCN9ALikely pathogenic-1RCV002015958; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167085479167085479167085479-
NM_001365536.1(SCN9A):c.3925-2A>G6335SCN9ALikely pathogenicrs532631248RCV001067705; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670854841670854842:g.167085484T>C-
NM_001365536.1(SCN9A):c.3925-4C>T6335SCN9ALikely benignrs1574762082RCV000983435; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670854861670854862:g.167085486G>A-
NM_001365536.1(SCN9A):c.3924+17C>T6335SCN9ALikely benign-1RCV002155153; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089833167089833167089833-
NC_000002.11:g.(?_167089840)_(167089982_?)del6335SCN9AUncertain significance-1RCV001980632; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089840167089982-1-
NM_001365536.1(SCN9A):c.3924+1G>C6335SCN9ALikely pathogenic-1RCV002028518; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089849167089849167089849-
NM_001365536.1(SCN9A):c.3923G>A (p.Arg1308Lys)6335SCN9AUncertain significancers1695178401RCV001236901; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670898511670898512:g.167089851C>T-
NM_001365536.1(SCN9A):c.3921G>A (p.Met1307Ile)6335SCN9AUncertain significancers1388858062RCV001234863; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670898531670898532:g.167089853C>T-
NM_001365536.1(SCN9A):c.3903A>G (p.Leu1301=)6335SCN9ALikely benign-1RCV001417027; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089871167089871167089871-
NM_001365536.1(SCN9A):c.3895A>G (p.Arg1299Gly)6335SCN9AUncertain significancers1553480088RCV000697611; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089879167089879NC_000002.11:g.167089879T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3894A>G (p.Leu1298=)6335SCN9ALikely benign-1RCV002138639; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089880167089880167089880-
NM_001365536.1(SCN9A):c.3884T>C (p.Leu1295Ser)6335SCN9AUncertain significancers1295607627RCV001241115; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670898901670898902:g.167089890A>G-
NM_001365536.1(SCN9A):c.3883T>G (p.Leu1295Val)6335SCN9AUncertain significance-1RCV001893613|RCV002361196; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167089891167089891167089891-
NM_001365536.1(SCN9A):c.3881C>T (p.Ala1294Val)6335SCN9AUncertain significance-1RCV002022418; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089893167089893167089893-
NM_001365536.1(SCN9A):c.3878G>C (p.Arg1293Thr)6335SCN9AUncertain significance-1RCV002040313; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089896167089896167089896-
NM_001365536.1(SCN9A):c.3871A>G (p.Thr1291Ala)6335SCN9AUncertain significancers1173515969RCV001326194; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089903167089903167089903-
NM_001365536.1(SCN9A):c.3869G>A (p.Arg1290Gln)6335SCN9AUncertain significancers368396027RCV001065098|RCV002365757; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670899051670899052:g.167089905C>T-
NM_001365536.1(SCN9A):c.3869G>C (p.Arg1290Pro)6335SCN9AUncertain significance-1RCV001965895; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089905167089905167089905-
NM_001365536.1(SCN9A):c.3868C>T (p.Arg1290Trp)6335SCN9AUncertain significancers763423536RCV000546049; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167089906167089906NC_000002.11:g.167089906G>AClinGen:CA1943989C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3856A>G (p.Ile1286Val)6335SCN9AUncertain significance-1RCV001870830; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089918167089918167089918-
NM_001365536.1(SCN9A):c.3855C>T (p.Pro1285=)6335SCN9ALikely benign-1RCV001406299; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089919167089919167089919-
NM_001365536.1(SCN9A):c.3845A>T (p.Asp1282Val)6335SCN9AUncertain significance-1RCV001971097; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089929167089929167089929-
NM_001365536.1(SCN9A):c.3840C>T (p.Tyr1280=)6335SCN9ALikely benign-1RCV001451400; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089934167089934167089934-
NM_001365536.1(SCN9A):c.3839A>G (p.Tyr1280Cys)6335SCN9AUncertain significancers200153808RCV000692540; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089935167089935NC_000002.11:g.167089935T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3838T>A (p.Tyr1280Asn)6335SCN9AUncertain significance-1RCV001983978; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089936167089936167089936-
NM_001365536.1(SCN9A):c.3827A>T (p.Asn1276Ile)6335SCN9AUncertain significancers1574771511RCV000803835; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670899471670899472:g.167089947T>A-
NM_001365536.1(SCN9A):c.3826A>G (p.Asn1276Asp)6335SCN9AUncertain significancers1695183254RCV001322318; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089948167089948167089948-
NM_001365536.1(SCN9A):c.3823G>T (p.Ala1275Ser)6335SCN9AUncertain significance-1RCV001968053; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089951167089951167089951-
NM_001365536.1(SCN9A):c.3818del (p.Thr1272_Leu1273insTer)6335SCN9APathogenic-1RCV001971830; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089956167089956167089955-
NM_001365536.1(SCN9A):c.3810G>T (p.Leu1270Phe)6335SCN9AUncertain significancers988494694RCV001227560; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670899641670899642:g.167089964C>A-
NM_001365536.1(SCN9A):c.3809T>C (p.Leu1270Ser)6335SCN9AUncertain significance-1RCV002012706; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089965167089965167089965-
NM_001365536.1(SCN9A):c.3802-3T>C6335SCN9AUncertain significancers375571381RCV001065438; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670899751670899752:g.167089975A>G-
NM_001365536.1(SCN9A):c.3802-13del6335SCN9ALikely benignrs747729984RCV000482524|RCV002056785; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167089985167089985NC_000002.11:g.167089985delClinGen:CA1943995CN169374 not specified;
NM_001365536.1(SCN9A):c.3796_3801+23del6335SCN9ALikely pathogenic-1RCV002024904; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094581167094609167094580-
NM_001365536.1(SCN9A):c.3801+1G>A6335SCN9APathogenic-1RCV001391018; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094603167094603167094603-
NM_001365536.1(SCN9A):c.3800A>C (p.Asp1267Ala)6335SCN9AUncertain significancers200023796RCV000802907; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670946051670946052:g.167094605T>G-
NM_001365536.1(SCN9A):c.3795T>A (p.Ile1265=)6335SCN9AUncertain significance-1RCV001370271; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094610167094610167094610-
NM_001365536.1(SCN9A):c.3793A>G (p.Ile1265Val)6335SCN9AUncertain significance-1RCV002296765; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094612167094612167094612-
NM_001365536.1(SCN9A):c.3781C>T (p.Leu1261=)6335SCN9ALikely benignrs1574780648RCV000928443|RCV001491905; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670946241670946242:g.167094624G>A-
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter)6335SCN9APathogenicrs1553481071RCV001049862; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670946251670946252:g.167094625C>T-
NM_001365536.1(SCN9A):c.3776G>T (p.Cys1259Phe)6335SCN9AUncertain significance-1RCV001367510; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094629167094629167094629-
NM_001365536.1(SCN9A):c.3759T>C (p.Tyr1253=)6335SCN9AConflicting interpretations of pathogenicityrs201640757RCV000732360|RCV001085790|RCV002343331; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670946461670946462:g.167094646A>GClinGen:CA1944013C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3741A>T (p.Ala1247=)6335SCN9ALikely benign-1RCV001406616; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094664167094664167094664-
NM_001365536.1(SCN9A):c.3738A>C (p.Ile1246=)6335SCN9ALikely benign-1RCV001412893; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094667167094667167094667-
NM_001365536.1(SCN9A):c.3737T>G (p.Ile1246Arg)6335SCN9AUncertain significancers1273642586RCV001308906; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094668167094668167094668-
NM_001365536.1(SCN9A):c.3722T>C (p.Met1241Thr)6335SCN9AUncertain significancers200123848RCV000647744; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167094683167094683NC_000002.11:g.167094683A>GClinGen:CA59813655C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3712A>G (p.Ile1238Val)6335SCN9AUncertain significancers1558973382RCV001318225; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094693167094693167094693-
NM_001365536.1(SCN9A):c.3702T>C (p.Thr1234=)6335SCN9ALikely benign-1RCV002111001; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094703167094703167094703-
NM_001365536.1(SCN9A):c.3701C>T (p.Thr1234Ile)6335SCN9AUncertain significance-1RCV001967797; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094704167094704167094704-
NM_001365536.1(SCN9A):c.3690C>G (p.Asp1230Glu)6335SCN9AUncertain significance-1RCV001359408; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094715167094715167094715-
NM_001365536.1(SCN9A):c.3678G>A (p.Leu1226=)6335SCN9ALikely benign-1RCV002113580; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094727167094727167094727-
NM_001365536.1(SCN9A):c.3664A>T (p.Ile1222Phe)6335SCN9AUncertain significancers1695407830RCV001301895; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094741167094741167094741-
NM_001365536.1(SCN9A):c.3641T>C (p.Ile1214Thr)6335SCN9AUncertain significance-1RCV002034078; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094764167094764167094764-
NM_001365536.1(SCN9A):c.3628-7T>C6335SCN9ALikely benign-1RCV002129944; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167094784167094784167094784-
NM_001365536.1(SCN9A):c.3627+17C>A6335SCN9ALikely benign-1RCV002124203; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167098995167098995167098995-
NM_001365536.1(SCN9A):c.3627+8A>G6335SCN9ALikely benign-1RCV002159133; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099004167099004167099004-
NM_001365536.1(SCN9A):c.3619G>T (p.Gly1207Cys)6335SCN9AUncertain significancers775143721RCV001351470; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099020167099020167099020-
NM_001365536.1(SCN9A):c.3617G>A (p.Ser1206Asn)6335SCN9AUncertain significance-1RCV001926221; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099022167099022167099022-
NM_001365536.1(SCN9A):c.3612C>T (p.Leu1204=)6335SCN9ALikely benignrs1408476498RCV000976979|RCV001464521; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670990271670990272:g.167099027G>A-
NM_001365536.1(SCN9A):c.3610C>T (p.Leu1204Phe)6335SCN9AUncertain significance-1RCV002042321; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099029167099029167099029-
NM_001365536.1(SCN9A):c.3599T>A (p.Leu1200His)6335SCN9AUncertain significancers1342493346RCV001047881|RCV001811629; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670990401670990402:g.167099040A>T-
NM_001365536.1(SCN9A):c.3598C>T (p.Leu1200Phe)6335SCN9AUncertain significancers201233540RCV000494000|RCV001315626; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670990411670990412:g.167099041G>AClinGen:CA59814600CN169374 not specified;
NM_001365536.1(SCN9A):c.3597C>A (p.Val1199=)6335SCN9ALikely benignrs775344750RCV000474551|RCV002341092; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670990421670990422:g.167099042G>TClinGen:CA16610193C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3597C>T (p.Val1199=)6335SCN9ALikely benign-1RCV002188094; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099042167099042167099042-
NM_001365536.1(SCN9A):c.3587G>A (p.Ser1196Asn)6335SCN9AUncertain significance-1RCV002010604; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099052167099052167099052-
NM_001365536.1(SCN9A):c.3579G>T (p.Trp1193Cys)6335SCN9AUncertain significancers1433542348RCV001237818; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670990601670990602:g.167099060C>A-
NM_001365536.1(SCN9A):c.3576T>C (p.Ser1192=)6335SCN9ALikely benign-1RCV002205752; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099063167099063167099063-
NM_001365536.1(SCN9A):c.3575G>A (p.Ser1192Asn)6335SCN9AUncertain significance-1RCV001370252; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099064167099064167099064-
NM_001365536.1(SCN9A):c.3573C>T (p.His1191=)6335SCN9ALikely benignrs375710841RCV000616191|RCV002066836; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670990661670990662:g.167099066G>AClinGen:CA1944028CN169374 not specified;
NM_001365536.1(SCN9A):c.3566T>G (p.Val1189Gly)6335SCN9AUncertain significancers761337631RCV001064414; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670990731670990732:g.167099073A>C-
NM_001365536.1(SCN9A):c.3561G>C (p.Lys1187Asn)6335SCN9AUncertain significancers199791077RCV000647777; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167099078167099078NC_000002.11:g.167099078C>GClinGen:CA1944030C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3542T>A (p.Ile1181Asn)6335SCN9AUncertain significance-1RCV001979431; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099097167099097167099097-
NM_001365536.1(SCN9A):c.3541A>G (p.Ile1181Val)6335SCN9AUncertain significance-1RCV001901392; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099098167099098167099098-
NM_001365536.1(SCN9A):c.3540C>T (p.Asn1180=)6335SCN9ALikely benignrs766241126RCV000444490|RCV001414447|RCV002451029; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670990991670990992:g.167099099G>AClinGen:CA1944033CN169374 not specified;
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)6335SCN9AUncertain significancers750269576RCV000518358|RCV000765524|RCV001203277; NMedGen:CN169374|6 conditions|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721670991011670991012:g.167099101T>CClinGen:CA1944034CN169374 not specified;
NM_001365536.1(SCN9A):c.3518G>T (p.Gly1173Val)6335SCN9AUncertain significance-1RCV001948820; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099121167099121167099121-
NM_001365536.1(SCN9A):c.3514T>C (p.Ser1172Pro)6335SCN9AUncertain significance-1RCV002029102|RCV002458979; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167099125167099125167099125-
NM_001365536.1(SCN9A):c.3512A>G (p.Glu1171Gly)6335SCN9AUncertain significance-1RCV001863738; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099127167099127167099127-
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)6335SCN9AConflicting interpretations of pathogenicityrs73019664RCV000118301|RCV000517300|RCV001083679|RCV002453434; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321670991301670991302:g.167099130A>GClinGen:CA231500C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)6335SCN9AConflicting interpretations of pathogenicityrs151241025RCV000175432|RCV000460904|RCV001086465|RCV002460053; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321670991331670991332:g.167099133T>GClinGen:CA201453C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3502G>T (p.Val1168Phe)6335SCN9AUncertain significancers1467872202RCV000532110; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670991371670991372:g.167099137C>AClinGen:CA349070643C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3501A>G (p.Gln1167=)6335SCN9AConflicting interpretations of pathogenicityrs1553482109RCV000647767|RCV002460102; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167099138167099138NC_000002.11:g.167099138T>CClinGen:CA429901405C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3492A>C (p.Ser1164=)6335SCN9ALikely benign-1RCV002142887; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099147167099147167099147-
NM_001365536.1(SCN9A):c.3489C>A (p.Phe1163Leu)6335SCN9AUncertain significancers1695618661RCV001325665; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099150167099150167099150-
NM_001365536.1(SCN9A):c.3489C>T (p.Phe1163=)6335SCN9ALikely benign-1RCV001421400; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099150167099150167099150-
NM_001365536.1(SCN9A):c.3484A>T (p.Arg1162Trp)6335SCN9AUncertain significance-1RCV001870671|RCV002458683; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167099155167099155167099155-
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)6335SCN9AConflicting interpretations of pathogenicityrs759003928RCV000541916|RCV000778570|RCV001129049|RCV001129048|RCV001811060|RCV002252165|RCV002456195; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MON21670991571670991572:g.167099157C>TClinGen:CA1944039C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3481_3482inv (p.Trp1161Gln)6335SCN9AUncertain significance-1RCV001888788; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167099157167099158167099157-
NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)6335SCN9ABenignrs6746030RCV000020514|RCV000713170|RCV001079293; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021670991581670991582:g.167099158A>.ClinGen:CA341939C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)6335SCN9ABenignrs6746030RCV001513087|RCV001726204|RCV001807278|RCV001807280|RCV001807279|RCV001811006; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C18336621670991581670991582:g.167099158A>GClinGen:CA1944040CN169374 not specified;
NM_001365536.1(SCN9A):c.3478G>A (p.Val1160Ile)6335SCN9AUncertain significancers1369161781RCV001218091|RCV001760205; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221670991611670991612:g.167099161C>T-
NM_001365536.1(SCN9A):c.3472+15del6335SCN9ALikely benign-1RCV002209045; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108260167108260167108259-
NM_001365536.1(SCN9A):c.3472+7C>A6335SCN9ALikely benignrs1458073270RCV000531901|RCV001400596; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167108268167108268NC_000002.11:g.167108268G>TClinGen:CA537512266C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3472+6A>C6335SCN9AUncertain significance-1RCV002036226; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108269167108269167108269-
NM_001365536.1(SCN9A):c.3467C>T (p.Thr1156Ile)6335SCN9ALikely benignrs765515813RCV000461004; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167108280167108280NC_000002.11:g.167108280G>AClinGen:CA1944054C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3456G>A (p.Glu1152=)6335SCN9ALikely benign-1RCV001407284; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108291167108291167108291-
NM_001365536.1(SCN9A):c.3452C>A (p.Pro1151Gln)6335SCN9AUncertain significancers375969631RCV000685430; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108295167108295NC_000002.11:g.167108295G>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys)6335SCN9AUncertain significancers367794835RCV000553461|RCV001549631|RCV001824824|RCV002330930; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN517202|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0024309,MedGen:C2752082167108299167108299NC_000002.11:g.167108299C>TClinGen:CA1944058C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3446A>G (p.Asp1149Gly)6335SCN9AUncertain significancers1696051198RCV001039752; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083011671083012:g.167108301T>C-
NM_001365536.1(SCN9A):c.3445G>T (p.Asp1149Tyr)6335SCN9AUncertain significancers199859971RCV001201738; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083021671083022:g.167108302C>A-
NM_001365536.1(SCN9A):c.3445G>A (p.Asp1149Asn)6335SCN9AUncertain significancers199859971RCV001206375; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083021671083022:g.167108302C>T-
NM_001365536.1(SCN9A):c.3440A>C (p.Asn1147Thr)6335SCN9AUncertain significance-1RCV002015754; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108307167108307167108307-
NM_001365536.1(SCN9A):c.3433C>T (p.Pro1145Ser)6335SCN9AUncertain significancers1696052082RCV001205309; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083141671083142:g.167108314G>A-
NM_001365536.1(SCN9A):c.3416AAG[1] (p.Glu1140del)6335SCN9AUncertain significancers1185000025RCV001233004; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671083261671083282:g.167108326_167108328del-
NM_001365536.1(SCN9A):c.3420A>T (p.Glu1140Asp)6335SCN9AUncertain significancers201049193RCV001235775; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671083271671083272:g.167108327T>A-
NM_001365536.1(SCN9A):c.3413_3415del (p.Gly1138del)6335SCN9AUncertain significance-1RCV001359195|RCV002456540; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167108332167108334167108331-
NM_001365536.1(SCN9A):c.3412G>A (p.Gly1138Arg)6335SCN9AUncertain significancers748920376RCV000690229; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108335167108335NC_000002.11:g.167108335C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3411A>C (p.Glu1137Asp)6335SCN9AUncertain significance-1RCV002299315; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108336167108336167108336-
NM_001365536.1(SCN9A):c.3400_3405dup (p.Leu1134_Pro1135dup)6335SCN9AUncertain significancers749806397RCV000549835; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167108341167108342NC_000002.11:g.167108345_167108350dupClinGen:CA1944066C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3406G>A (p.Gly1136Arg)6335SCN9AUncertain significancers774128928RCV000805487; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671083411671083412:g.167108341C>T-
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)6335SCN9AConflicting interpretations of pathogenicityrs184563685RCV000723918|RCV001085612|RCV002453504; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671083441671083442:g.167108344G>AClinGen:CA234896C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)6335SCN9AConflicting interpretations of pathogenicityrs200160858RCV000249295|RCV000527962|RCV001132739|RCV001132741|RCV001132740|RCV001824712|RCV002450776; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Or21671083451671083452:g.167108345C>AClinGen:CA1944069C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3398C>T (p.Pro1133Leu)6335SCN9AUncertain significance-1RCV002039831|RCV002458652; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167108349167108349167108349-
NM_001365536.1(SCN9A):c.3397C>G (p.Pro1133Ala)6335SCN9AUncertain significancers761748478RCV000797447; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671083501671083502:g.167108350G>C-
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile)6335SCN9AUncertain significancers765384427RCV000821630|RCV001132742|RCV001136145|RCV001136146; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Or21671083591671083592:g.167108359C>T-
NM_001365536.1(SCN9A):c.3381C>T (p.Cys1127=)6335SCN9ALikely benign-1RCV001429230; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108366167108366167108366-
NM_001365536.1(SCN9A):c.3380G>A (p.Cys1127Tyr)6335SCN9AUncertain significancers766904425RCV001202050; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083671671083672:g.167108367C>T-
NM_001365536.1(SCN9A):c.3372C>T (p.Ser1124=)6335SCN9ALikely benign-1RCV001415031; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108375167108375167108375-
NM_001365536.1(SCN9A):c.3367A>G (p.Ser1123Gly)6335SCN9AUncertain significancers199565207RCV001307860; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108380167108380167108380-
NM_001365536.1(SCN9A):c.3365C>T (p.Ser1122Leu)6335SCN9AUncertain significance-1RCV001943821; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108382167108382167108382-
NM_001365536.1(SCN9A):c.3362G>C (p.Arg1121Pro)6335SCN9ALikely benignrs74401238RCV000466349; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167108385167108385NC_000002.11:g.167108385C>GClinGen:CA1944078C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)6335SCN9AConflicting interpretations of pathogenicityrs190664764RCV000175302|RCV000224392|RCV001084262; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671083861671083862:g.167108386G>AClinGen:CA201381C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3352-1G>A6335SCN9APathogenic-1RCV001993168; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108396167108396167108396-
NM_001365536.1(SCN9A):c.3352-16G>A6335SCN9ALikely benign-1RCV002103090; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167108411167108411167108411-
NM_001365536.1(SCN9A):c.3351+16A>G6335SCN9ALikely benign-1RCV002133100; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128893167128893167128893-
NM_001365536.1(SCN9A):c.3351+5G>A6335SCN9AUncertain significancers200211419RCV000808590; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671289041671289042:g.167128904C>T-
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)6335SCN9AUncertain significancers200817435RCV000175172|RCV000540284|RCV000655985|RCV001198858|RCV002453614; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|Me21671289111671289112:g.167128911C>AClinGen:CA240877C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3345C>A (p.Ser1115Arg)6335SCN9AUncertain significancers767904709RCV000695909; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128915167128915NC_000002.11:g.167128915G>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3341A>T (p.Tyr1114Phe)6335SCN9AUncertain significancers1697032154RCV001297117; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128919167128919167128919-
NM_001365536.1(SCN9A):c.3335G>T (p.Ser1112Ile)6335SCN9AUncertain significance-1RCV002028381; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128925167128925167128925-
NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala)6335SCN9AUncertain significancers753287730RCV001307632|RCV002486202; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Or2167128928167128928167128928-
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly)6335SCN9AUncertain significance-1RCV001362225|RCV001535686; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Orph2167128928167128928167128928-
NM_001365536.1(SCN9A):c.3331G>C (p.Asp1111His)6335SCN9AUncertain significancers756907635RCV001213362; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671289291671289292:g.167128929C>G-
NM_001365536.1(SCN9A):c.3330G>A (p.Ser1110=)6335SCN9ALikely benign-1RCV001409509; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128930167128930167128930-
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu)6335SCN9AConflicting interpretations of pathogenicityrs145258166RCV000726838|RCV001083029|RCV002455939; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671289311671289312:g.167128931G>AClinGen:CA1944100C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3327T>C (p.Asp1109=)6335SCN9ALikely benign-1RCV001454534; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128933167128933167128933-
NM_001365536.1(SCN9A):c.3314A>C (p.Glu1105Ala)6335SCN9AUncertain significancers1697034776RCV001053595; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671289461671289462:g.167128946T>G-
NM_001365536.1(SCN9A):c.3307G>A (p.Ala1103Thr)6335SCN9AUncertain significance-1RCV001879653; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128953167128953167128953-
NM_001365536.1(SCN9A):c.3305A>G (p.Asn1102Ser)6335SCN9AUncertain significance-1RCV001358887; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128955167128955167128955-
NM_001365536.1(SCN9A):c.3302T>G (p.Met1101Arg)6335SCN9ALikely benignrs200866100RCV000647802; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167128958167128958NC_000002.11:g.167128958A>CClinGen:CA1944102C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3302T>A (p.Met1101Lys)6335SCN9AUncertain significancers200866100RCV001052365; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671289581671289582:g.167128958A>T-
NM_001365536.1(SCN9A):c.3301A>G (p.Met1101Val)6335SCN9AUncertain significance-1RCV001732893|RCV001882798|RCV002324171; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167128959167128959167128959-
NM_001365536.1(SCN9A):c.3289G>A (p.Asp1097Asn)6335SCN9AUncertain significancers768654039RCV000521825|RCV001319877; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671289711671289712:g.167128971C>TClinGen:CA1944104CN169374 not specified;
NM_001365536.1(SCN9A):c.3289G>T (p.Asp1097Tyr)6335SCN9AUncertain significancers768654039RCV001315296|RCV002447335; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167128971167128971167128971-
NM_001365536.1(SCN9A):c.3288C>T (p.Ser1096=)6335SCN9ABenign/Likely benignrs749337119RCV000551826|RCV002448750; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167128972167128972NC_000002.11:g.167128972G>AClinGen:CA1944106C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3287C>A (p.Ser1096Tyr)6335SCN9AUncertain significance-1RCV002007993; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128973167128973167128973-
NM_001365536.1(SCN9A):c.3285A>C (p.Glu1095Asp)6335SCN9AUncertain significancers200635145RCV000536942; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167128975167128975NC_000002.11:g.167128975T>GClinGen:CA349072701C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3285A>G (p.Glu1095=)6335SCN9ALikely benign-1RCV001440633; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128975167128975167128975-
NM_001365536.1(SCN9A):c.3284A>T (p.Glu1095Val)6335SCN9AUncertain significancers201189589RCV000647795; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671289761671289762:g.167128976T>AClinGen:CA59791068C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3282G>A (p.Gly1094=)6335SCN9ALikely benign-1RCV001453639; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128978167128978167128978-
NM_001365536.1(SCN9A):c.3274G>A (p.Ala1092Thr)6335SCN9AUncertain significance-1RCV002011522; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128986167128986167128986-
NM_001365536.1(SCN9A):c.3271A>G (p.Ile1091Val)6335SCN9AUncertain significancers202212176RCV000518430|RCV000647760; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128989167128989NC_000002.11:g.167128989T>CClinGen:CA1944109C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3266T>A (p.Val1089Glu)6335SCN9AUncertain significance-1RCV001985997; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128994167128994167128994-
NM_001365536.1(SCN9A):c.3266T>C (p.Val1089Ala)6335SCN9AUncertain significance-1RCV002295419; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167128994167128994167128994-
NM_001365536.1(SCN9A):c.3259G>A (p.Val1087Met)6335SCN9AUncertain significance-1RCV001921808; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129001167129001167129001-
NM_001365536.1(SCN9A):c.3253C>T (p.Leu1085Phe)6335SCN9AUncertain significancers761185337RCV001346643; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129007167129007167129007-
NM_001365536.1(SCN9A):c.3247C>T (p.Pro1083Ser)6335SCN9AUncertain significancers199815092RCV001315549; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129013167129013167129013-
NM_001365536.1(SCN9A):c.3247C>G (p.Pro1083Ala)6335SCN9AUncertain significance-1RCV001988464; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129013167129013167129013-
NM_001365536.1(SCN9A):c.3235T>G (p.Phe1079Val)6335SCN9AUncertain significancers1697040054RCV001300307; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129025167129025167129025-
NM_001365536.1(SCN9A):c.3234A>G (p.Ser1078=)6335SCN9ALikely benign-1RCV001483059; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129026167129026167129026-
NM_001365536.1(SCN9A):c.3234A>C (p.Ser1078=)6335SCN9ALikely benign-1RCV002217495; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129026167129026167129026-
NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=)6335SCN9ALikely benignrs200393050RCV000647816|RCV001720094|RCV002446675; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671290321671290322:g.167129032A>TClinGen:CA1944116C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3222T>C (p.Ser1074=)6335SCN9ALikely benign-1RCV002089393; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129038167129038167129038-
NM_001365536.1(SCN9A):c.3221G>T (p.Ser1074Ile)6335SCN9AUncertain significancers779723663RCV001318825; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129039167129039167129039-
NM_001365536.1(SCN9A):c.3217G>A (p.Asp1073Asn)6335SCN9AConflicting interpretations of pathogenicityrs201389358RCV000647755|RCV002325286; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167129043167129043NC_000002.11:g.167129043C>TClinGen:CA1944120C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3216A>C (p.Glu1072Asp)6335SCN9AUncertain significancers1553486652RCV000647771; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167129044167129044NC_000002.11:g.167129044T>GClinGen:CA349073119C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3212T>G (p.Met1071Arg)6335SCN9AUncertain significancers781223783RCV000701362; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129048167129048NC_000002.11:g.167129048A>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3212T>A (p.Met1071Lys)6335SCN9AUncertain significancers781223783RCV001351761; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129048167129048167129048-
NM_001365536.1(SCN9A):c.3209T>C (p.Leu1070Ser)6335SCN9AUncertain significancers199583108RCV000686122; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129051167129051NC_000002.11:g.167129051A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3207C>T (p.His1069=)6335SCN9ALikely benignrs200689065RCV000438278|RCV000862396|RCV001721336|RCV002323637; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671290531671290532:g.167129053G>AClinGen:CA1944125CN169374 not specified;
NM_001365536.1(SCN9A):c.3206A>C (p.His1069Pro)6335SCN9AUncertain significancers1157028159RCV000688071; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129054167129054NC_000002.11:g.167129054T>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3206A>G (p.His1069Arg)6335SCN9AUncertain significance-1RCV001884053; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129054167129054167129054-
NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs)6335SCN9ALikely pathogenicrs1574843584RCV000986923; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671290561671290562:g.167129056_167129056del-
NM_001365536.1(SCN9A):c.3183_3199del (p.Phe1062fs)6335SCN9APathogenic-1RCV001880283; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129061167129077167129060-
NM_001365536.1(SCN9A):c.3196G>A (p.Val1066Met)6335SCN9AUncertain significance-1RCV002018201; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129064167129064167129064-
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)6335SCN9AConflicting interpretations of pathogenicityrs111674454RCV000118299|RCV000733530|RCV001079748|RCV002321597; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671290651671290652:g.167129065G>AClinGen:CA155122C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3194G>A (p.Ser1065Asn)6335SCN9AUncertain significancers1697044092RCV001344916; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129066167129066167129066-
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter)6335SCN9APathogenicrs1553486684RCV001051216; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671290731671290732:g.167129073C>A-
NM_001365536.1(SCN9A):c.3174A>T (p.Lys1058Asn)6335SCN9AUncertain significance-1RCV001920711; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129086167129086167129086-
NM_001365536.1(SCN9A):c.3172A>C (p.Lys1058Gln)6335SCN9AUncertain significance-1RCV001960146; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129088167129088167129088-
NM_001365536.1(SCN9A):c.3169G>A (p.Asp1057Asn)6335SCN9AUncertain significance-1RCV001978758|RCV002307801; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167129091167129091167129091-
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)6335SCN9AConflicting interpretations of pathogenicityrs200560768RCV000476670|RCV001131849|RCV001131848|RCV001131847|RCV002323791; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orpha2167129093167129093NC_000002.11:g.167129093T>CClinGen:CA1944130C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3163G>A (p.Glu1055Lys)6335SCN9AUncertain significancers1553486703RCV001315099; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129097167129097167129097-
NM_001365536.1(SCN9A):c.3162G>C (p.Lys1054Asn)6335SCN9AUncertain significancers774486736RCV001216526|RCV002322051; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671290981671290982:g.167129098C>G-
NM_001365536.1(SCN9A):c.3160A>C (p.Lys1054Gln)6335SCN9AUncertain significancers1553486706RCV001060150; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671291001671291002:g.167129100T>G-
NM_001365536.1(SCN9A):c.3158T>C (p.Leu1053Pro)6335SCN9AUncertain significancers1281773674RCV000699833; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671291021671291022:g.167129102A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe)6335SCN9AUncertain significancers374531355RCV000175171|RCV000692804|RCV002321690; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671291031671291032:g.167129103G>AClinGen:CA240874C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3153T>C (p.Asn1051=)6335SCN9ALikely benign-1RCV001419239; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129107167129107167129107-
NM_001365536.1(SCN9A):c.3145G>A (p.Gly1049Ser)6335SCN9AUncertain significancers749888741RCV001323128; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129115167129115167129115-
NM_001365536.1(SCN9A):c.3143A>C (p.Lys1048Thr)6335SCN9AUncertain significance-1RCV002014114; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129117167129117167129117-
NM_001365536.1(SCN9A):c.3141C>T (p.Ser1047=)6335SCN9ALikely benignrs1046258167RCV000916000|RCV001408252; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671291191671291192:g.167129119G>A-
NM_001365536.1(SCN9A):c.3140G>A (p.Ser1047Asn)6335SCN9AUncertain significance-1RCV001960930; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129120167129120167129120-
NM_001365536.1(SCN9A):c.3138G>T (p.Met1046Ile)6335SCN9AUncertain significancers1553486730RCV000537875; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671291221671291222:g.167129122C>AClinGen:CA349073661C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3136A>G (p.Met1046Val)6335SCN9AUncertain significancers1697049272RCV001343696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129124167129124167129124-
NM_001365536.1(SCN9A):c.3131C>G (p.Ala1044Gly)6335SCN9AUncertain significancers1558998755RCV000690559; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129129167129129NC_000002.11:g.167129129G>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3130G>C (p.Ala1044Pro)6335SCN9AUncertain significance-1RCV001880633; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129130167129130167129130-
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile)6335SCN9AUncertain significancers757989638RCV000559422|RCV001131850|RCV001131851|RCV001131852|RCV002324017; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Or2167129135167129135NC_000002.11:g.167129135G>AClinGen:CA1944133C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3123T>A (p.His1041Gln)6335SCN9AUncertain significancers1478449852RCV000702890; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129137167129137NC_000002.11:g.167129137A>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3121C>A (p.His1041Asn)6335SCN9AUncertain significancers200163274RCV000647752; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167129139167129139NC_000002.11:g.167129139G>TClinGen:CA59791493C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3121C>G (p.His1041Asp)6335SCN9AUncertain significance-1RCV002002869|RCV002324427; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167129139167129139167129139-
NM_001365536.1(SCN9A):c.3120C>G (p.Asn1040Lys)6335SCN9AUncertain significancers766012083RCV001220982; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671291401671291402:g.167129140G>C-
NM_001365536.1(SCN9A):c.3096del (p.Lys1033fs)6335SCN9APathogenic-1RCV001939247; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129164167129164167129163-
NM_001365536.1(SCN9A):c.3089T>C (p.Leu1030Pro)6335SCN9AConflicting interpretations of pathogenicityrs200958860RCV000706571|RCV002442536; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167129171167129171NC_000002.11:g.167129171A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3088C>T (p.Leu1030=)6335SCN9ALikely benign-1RCV001435190; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129172167129172167129172-
NM_001365536.1(SCN9A):c.3085G>T (p.Asp1029Tyr)6335SCN9AUncertain significance-1RCV001915258; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129175167129175167129175-
NM_001365536.1(SCN9A):c.3080C>G (p.Ala1027Gly)6335SCN9AUncertain significancers1574844017RCV000818025; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671291801671291802:g.167129180G>C-
NM_001365536.1(SCN9A):c.3080C>T (p.Ala1027Val)6335SCN9AUncertain significance-1RCV001975386; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129180167129180167129180-
NM_001365536.1(SCN9A):c.3080C>A (p.Ala1027Glu)6335SCN9AUncertain significance-1RCV002042174; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129180167129180167129180-
NM_001365536.1(SCN9A):c.3076C>A (p.Gln1026Lys)6335SCN9AUncertain significance-1RCV002030861|RCV002443069; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167129184167129184167129184-
NM_001365536.1(SCN9A):c.3075A>T (p.Arg1025Ser)6335SCN9AUncertain significancers778873872RCV001046696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671291851671291852:g.167129185T>A-
NM_001365536.1(SCN9A):c.3074G>T (p.Arg1025Ile)6335SCN9AUncertain significance-1RCV001916188; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129186167129186167129186-
NM_001365536.1(SCN9A):c.3072A>G (p.Ile1024Met)6335SCN9AUncertain significance-1RCV001900350; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129188167129188167129188-
NM_001365536.1(SCN9A):c.3065G>T (p.Arg1022Met)6335SCN9AUncertain significance-1RCV001925103; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129195167129195167129195-
NM_001365536.1(SCN9A):c.3064A>T (p.Arg1022Trp)6335SCN9AUncertain significancers780201476RCV001243675; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671291961671291962:g.167129196T>A-
NM_001365536.1(SCN9A):c.3056A>G (p.Lys1019Arg)6335SCN9AUncertain significancers201979706RCV000647763|RCV002440337; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167129204167129204NC_000002.11:g.167129204T>CClinGen:CA1944145C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)6335SCN9AConflicting interpretations of pathogenicityrs147623238RCV000657119|RCV001079212|RCV002436062; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671292091671292092:g.167129209C>GClinGen:CA1944146C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3044C>G (p.Ser1015Cys)6335SCN9AUncertain significancers372016328RCV001240133; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671292161671292162:g.167129216G>C-
NM_001365536.1(SCN9A):c.3038C>T (p.Ala1013Val)6335SCN9AUncertain significancers202153871RCV000686170; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671292221671292222:g.167129222G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3038C>A (p.Ala1013Glu)6335SCN9AUncertain significancers202153871RCV001318141|RCV001760391; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167129222167129222167129222-
NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=)6335SCN9AConflicting interpretations of pathogenicityrs200375962RCV000603655|RCV000693710|RCV002438578; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671292241671292242:g.167129224T>CClinGen:CA1944150C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3032T>C (p.Leu1011Pro)6335SCN9AUncertain significance-1RCV001994110; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129228167129228167129228-
NM_001365536.1(SCN9A):c.3031C>A (p.Leu1011Ile)6335SCN9AUncertain significancers765781370RCV001319897; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129229167129229167129229-
NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val)6335SCN9AUncertain significancers375510818RCV000658271|RCV001210899; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671292321671292322:g.167129232T>C-CN517202 not provided;
NM_001365536.1(SCN9A):c.3024_3026del (p.Glu1008_Phe1009delinsAsp)6335SCN9AUncertain significancers1235363863RCV001054655; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671292341671292362:g.167129234_167129236del-
NM_001365536.1(SCN9A):c.3025T>C (p.Phe1009Leu)6335SCN9AUncertain significancers1028951676RCV001294888; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129235167129235167129235-
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)6335SCN9AConflicting interpretations of pathogenicityrs121908910RCV000006728|RCV000559164|RCV001559739; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221671292411671292412:g.167129241G>AClinGen:CA118140,OMIM:603415.0008C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3019C>G (p.Arg1007Gly)6335SCN9AUncertain significance-1RCV001921372; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129241167129241167129241-
NM_001365536.1(SCN9A):c.3015C>T (p.Thr1005=)6335SCN9ALikely benign-1RCV001416383; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129245167129245167129245-
NM_001365536.1(SCN9A):c.3014C>A (p.Thr1005Asn)6335SCN9AUncertain significancers200155076RCV001060481|RCV002436639; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671292461671292462:g.167129246G>T-
NM_001365536.1(SCN9A):c.3009A>G (p.Lys1003=)6335SCN9ALikely benign-1RCV001424086; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129251167129251167129251-
NM_001365536.1(SCN9A):c.3007A>G (p.Lys1003Glu)6335SCN9AUncertain significance-1RCV001363575; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129253167129253167129253-
NM_001365536.1(SCN9A):c.3004G>A (p.Val1002Met)6335SCN9AUncertain significancers4369876RCV001338561; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129256167129256167129256-
NM_001365536.1(SCN9A):c.3003T>C (p.Tyr1001=)6335SCN9ALikely benignrs886038521RCV000253876|RCV000928886|RCV001463552|RCV002436084; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167129257167129257NC_000002.11:g.167129257A>GClinGen:CA10586790CN169374 not specified;
NM_001365536.1(SCN9A):c.2996T>C (p.Ile999Thr)6335SCN9AUncertain significance-1RCV001892187; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129264167129264167129264-
NM_001365536.1(SCN9A):c.2995A>G (p.Ile999Val)6335SCN9AUncertain significance-1RCV001989158; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129265167129265167129265-
NM_001365536.1(SCN9A):c.2994A>C (p.Gly998=)6335SCN9ALikely benignrs1574844351RCV000976299|RCV001484790; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671292661671292662:g.167129266T>G-
NM_001365536.1(SCN9A):c.2991G>T (p.Lys997Asn)6335SCN9AUncertain significancers747287072RCV001213244|RCV002436821; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671292691671292692:g.167129269C>A-
NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer)6335SCN9APathogenic-1RCV001382889; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129275167129276167129275-
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs)6335SCN9APathogenicrs1574844397RCV000820787; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671292761671292762:g.167129276_167129277insG-
NM_001365536.1(SCN9A):c.2975T>C (p.Val992Ala)6335SCN9AUncertain significancers1057524814RCV000429418|RCV001249706|RCV001344028; NMedGen:CN517202||MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671292851671292852:g.167129285A>GClinGen:CA16603954CN169374 not specified;
NM_001365536.1(SCN9A):c.2975T>G (p.Val992Gly)6335SCN9AUncertain significancers1057524814RCV001211077; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671292851671292852:g.167129285A>C-
NM_001365536.1(SCN9A):c.2973A>G (p.Ala991=)6335SCN9ALikely benign-1RCV001401762; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129287167129287167129287-
NM_001365536.1(SCN9A):c.2969T>C (p.Ile990Thr)6335SCN9AUncertain significance-1RCV001363181; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129291167129291167129291-
NM_001365536.1(SCN9A):c.2968A>G (p.Ile990Val)6335SCN9AUncertain significancers1354458914RCV001225099|RCV002436875; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671292921671292922:g.167129292T>C-
NM_001365536.1(SCN9A):c.2966A>G (p.Gln989Arg)6335SCN9AUncertain significancers1697061166RCV001319574; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129294167129294167129294-
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)6335SCN9AConflicting interpretations of pathogenicityrs201430964RCV000713169|RCV001080759|RCV002436253; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671292961671292962:g.167129296G>AClinGen:CA1944159C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2960A>G (p.Asn987Ser)6335SCN9AUncertain significance-1RCV001948659; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129300167129300167129300-
NM_001365536.1(SCN9A):c.2952T>C (p.Asp984=)6335SCN9ALikely benign-1RCV001454811; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129308167129308167129308-
NM_001365536.1(SCN9A):c.2931A>G (p.Thr977=)6335SCN9ALikely benign-1RCV001450400; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129329167129329167129329-
NM_001365536.1(SCN9A):c.2930C>G (p.Thr977Arg)6335SCN9AUncertain significancers1369602144RCV000647749|RCV001766396; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN5172022167129330167129330NC_000002.11:g.167129330G>CClinGen:CA349074841C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2924A>G (p.Asn975Ser)6335SCN9AUncertain significancers576744283RCV000544354; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671293361671293362:g.167129336T>CClinGen:CA1944164C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2922C>A (p.Asp974Glu)6335SCN9AUncertain significancers368691761RCV000694527; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129338167129338NC_000002.11:g.167129338G>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2915G>A (p.Ser972Asn)6335SCN9AUncertain significance-1RCV001373825; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129345167129345167129345-
NM_001365536.1(SCN9A):c.2909C>T (p.Ser970Leu)6335SCN9AUncertain significance-1RCV002033177; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129351167129351167129351-
NM_001365536.1(SCN9A):c.2906G>C (p.Ser969Thr)6335SCN9AUncertain significance-1RCV002039750; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129354167129354167129354-
NM_001365536.1(SCN9A):c.2901A>G (p.Leu967=)6335SCN9ALikely benign-1RCV001495272; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129359167129359167129359-
NM_001365536.1(SCN9A):c.2893G>T (p.Ala965Ser)6335SCN9AUncertain significance-1RCV002009544; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129367167129367167129367-
NM_001365536.1(SCN9A):c.2880A>C (p.Leu960=)6335SCN9ALikely benign-1RCV001407018; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129380167129380167129380-
NM_001365536.1(SCN9A):c.2877C>A (p.Val959=)6335SCN9ALikely benign-1RCV002096117; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129383167129383167129383-
NM_001365536.1(SCN9A):c.2876T>A (p.Val959Asp)6335SCN9AUncertain significance-1RCV001908252; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129384167129384167129384-
NM_001365536.1(SCN9A):c.2875-6_2875-5delinsG6335SCN9AUncertain significancers1558999342RCV000700623|RCV002440507; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167129390167129391NC_000002.11:g.167129390_167129391delinsC-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2875-6A>T6335SCN9ALikely benign-1RCV002165996; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129391167129391167129391-
NM_001365536.1(SCN9A):c.2875-13C>T6335SCN9ALikely benign-1RCV002152909; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129398167129398167129398-
NM_001365536.1(SCN9A):c.2875-20C>G6335SCN9ALikely benign-1RCV002135480; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167129405167129405167129405-
NM_001365536.1(SCN9A):c.2874+20T>C6335SCN9ALikely benign-1RCV002132554; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133473167133473167133473-
NM_001365536.1(SCN9A):c.2874+13del6335SCN9ABenignrs200434162RCV000268373|RCV000272306|RCV000308433|RCV000323457|RCV002057586; NMedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0800207,MedGen:C3276706|MedGen:CN239438|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36382167133480167133480NC_000002.11:g.167133480delClinGen:CA10612806C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2874+11_2874+13del6335SCN9ALikely benign-1RCV002496215; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970; MONDO:MONDO:0008179,MedGen:C1833661,O2167133480167133482NC_000002.11:g.167133480_167133482del-
NM_001365536.1(SCN9A):c.2874+12G>T6335SCN9ALikely benign-1RCV001529286|RCV002070358; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133481167133481167133481-
NM_001365536.1(SCN9A):c.2874+11A>T6335SCN9ALikely benign-1RCV002203536; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133482167133482167133482-
NM_001365536.1(SCN9A):c.2874+4T>C6335SCN9AUncertain significancers372584040RCV000733429|RCV001039392|RCV002440578; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167133489167133489NC_000002.11:g.167133489A>G-
NM_001365536.1(SCN9A):c.2859C>T (p.Val953=)6335SCN9ALikely benign-1RCV002114818; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133508167133508167133508-
NM_001365536.1(SCN9A):c.2858T>G (p.Val953Gly)6335SCN9AUncertain significance-1RCV002047974; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133509167133509167133509-
NM_001365536.1(SCN9A):c.2855T>C (p.Met952Thr)6335SCN9AUncertain significancers201069557RCV001039433; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671335121671335122:g.167133512A>G-
NM_001365536.1(SCN9A):c.2854A>C (p.Met952Leu)6335SCN9AUncertain significance-1RCV001945628; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133513167133513167133513-
NM_001365536.1(SCN9A):c.2853C>T (p.Val951=)6335SCN9ALikely benignrs764006250RCV000555268|RCV002438458; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167133514167133514NC_000002.11:g.167133514G>AClinGen:CA59794461C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2853C>G (p.Val951=)6335SCN9ABenign/Likely benignrs764006250RCV000540675|RCV002438457; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671335141671335142:g.167133514G>CClinGen:CA1944194C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2834T>C (p.Leu945Pro)6335SCN9AUncertain significancers751656218RCV000814691; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671335331671335332:g.167133533A>G-
NM_001365536.1(SCN9A):c.2829G>A (p.Met943Ile)6335SCN9AUncertain significance-1RCV001926738; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133538167133538167133538-
NM_001365536.1(SCN9A):c.2828T>C (p.Met943Thr)6335SCN9AUncertain significancers1574851227RCV000803535; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671335391671335392:g.167133539A>G-
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)6335SCN9ABenign/Likely benignrs12478318RCV000080038|RCV000399125|RCV000461431|RCV000986924|RCV001129274|RCV000992914|RCV001129275; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,O21671335401671335402:g.167133540T>GClinVar:441531,ClinGen:CA147603,OMIM:603415.0025C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2824G>A (p.Ala942Thr)6335SCN9AUncertain significancers376303259RCV000698161; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133543167133543NC_000002.11:g.167133543C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2823A>T (p.Gln941His)6335SCN9AUncertain significance-1RCV002050240; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133544167133544167133544-
NM_001365536.1(SCN9A):c.2816C>T (p.Ala939Val)6335SCN9AUncertain significancers1697266313RCV001234644; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671335511671335512:g.167133551G>A-
NM_001365536.1(SCN9A):c.2815G>A (p.Ala939Thr)6335SCN9AUncertain significancers1064793264RCV000483958|RCV001851140; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671335521671335522:g.167133552C>TClinGen:CA16617322CN169374 not specified;
NM_001365536.1(SCN9A):c.2815G>T (p.Ala939Ser)6335SCN9AUncertain significance-1RCV001904705; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133552167133552167133552-
NM_001365536.1(SCN9A):c.2814C>T (p.Val938=)6335SCN9ALikely benign-1RCV001407523; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133553167133553167133553-
NM_001365536.1(SCN9A):c.2807T>C (p.Met936Thr)6335SCN9AUncertain significance-1RCV001880311; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133560167133560167133560-
NM_001365536.1(SCN9A):c.2800G>A (p.Asp934Asn)6335SCN9AUncertain significancers756279972RCV001309552; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133567167133567167133567-
NM_001365536.1(SCN9A):c.2800G>T (p.Asp934Tyr)6335SCN9AUncertain significance-1RCV001943376; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133567167133567167133567-
NM_001365536.1(SCN9A):c.2796G>C (p.Met932Ile)6335SCN9AUncertain significance-1RCV001968722; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133571167133571167133571-
NM_001365536.1(SCN9A):c.2795T>C (p.Met932Thr)6335SCN9AUncertain significance-1RCV001872960; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133572167133572167133572-
NM_001365536.1(SCN9A):c.2792C>T (p.Thr931Ile)6335SCN9AUncertain significancers1299624986RCV000809410; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671335751671335752:g.167133575G>A-
NM_001365536.1(SCN9A):c.2781G>A (p.Glu927=)6335SCN9ALikely benign-1RCV002165093; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133586167133586167133586-
NM_001365536.1(SCN9A):c.2779G>A (p.Glu927Lys)6335SCN9AUncertain significancers202097398RCV000699374; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671335881671335882:g.167133588C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2767G>A (p.Val923Met)6335SCN9AUncertain significancers746356598RCV001071205|RCV002436689; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671336001671336002:g.167133600C>T-
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)6335SCN9AConflicting interpretations of pathogenicityrs199653503RCV000264476|RCV000725858|RCV001082809|RCV002436115; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671336011671336012:g.167133601G>AClinGen:CA1944207C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2765G>A (p.Arg922His)6335SCN9AUncertain significancers1697269216RCV001228875|RCV002451537; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671336021671336022:g.167133602C>T-
NM_001365536.1(SCN9A):c.2764C>T (p.Arg922Cys)6335SCN9AUncertain significancers774848595RCV001037995; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671336031671336032:g.167133603G>A-
NM_001365536.1(SCN9A):c.2757T>A (p.Ile919=)6335SCN9AUncertain significancers1574851414RCV000800283; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671336101671336102:g.167133610A>T-
NM_001365536.1(SCN9A):c.2754_2756del (p.Ile919del)6335SCN9AUncertain significance-1RCV001903819; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133611167133613167133610-
NM_001365536.1(SCN9A):c.2734G>A (p.Asp912Asn)6335SCN9AUncertain significance-1RCV001884132; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133633167133633167133633-
NM_001365536.1(SCN9A):c.2733C>T (p.Asn911=)6335SCN9ABenign/Likely benignrs201560403RCV000530374|RCV002431671; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671336341671336342:g.167133634G>AClinGen:CA1944211C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2732A>C (p.Asn911Thr)6335SCN9AUncertain significancers1697270208RCV001347834; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133635167133635167133635-
NM_001365536.1(SCN9A):c.2727C>T (p.His909=)6335SCN9ALikely benign-1RCV001443465; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133640167133640167133640-
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter)6335SCN9APathogenicrs794729216RCV000184036|RCV001836638|RCV001852381; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orp21671336441671336442:g.167133644C>TClinGen:CA203854C1855739 243000 Indifference to pain, congenital, autosomal recessive;
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)6335SCN9APathogenicrs1024152367RCV001208223|RCV001528173; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:97021671336471671336472:g.167133647C>T-
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)6335SCN9AConflicting interpretations of pathogenicityrs202152511RCV000479461|RCV000700015|RCV001535622; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0009459,MedGen:C18557321671336481671336482:g.167133648G>AClinGen:CA1944214C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2718A>G (p.Pro906=)6335SCN9ALikely benign-1RCV001404021; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133649167133649167133649-
NM_001365536.1(SCN9A):c.2712G>A (p.Thr904=)6335SCN9ALikely benignrs200494981RCV000435563|RCV000868537|RCV002429461; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671336551671336552:g.167133655C>TClinGen:CA1944215CN169374 not specified;
NM_001365536.1(SCN9A):c.2711C>T (p.Thr904Met)6335SCN9AUncertain significancers201432813RCV000822245; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671336561671336562:g.167133656G>A-
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer)6335SCN9APathogenicrs1697271674RCV001219445; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671336581671336582:g.167133658_167133658del-
NM_001365536.1(SCN9A):c.2699A>G (p.Asn900Ser)6335SCN9AUncertain significance-1RCV001921268; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133668167133668167133668-
NM_001365536.1(SCN9A):c.2698A>C (p.Asn900His)6335SCN9AUncertain significancers1697272320RCV001236500; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671336691671336692:g.167133669T>G-
NM_001365536.1(SCN9A):c.2693A>G (p.Lys898Arg)6335SCN9AUncertain significance-1RCV002046935; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133674167133674167133674-
NM_001365536.1(SCN9A):c.2691C>T (p.Cys897=)6335SCN9ALikely benignrs1060504427RCV000466520|RCV001461619; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167133676167133676NC_000002.11:g.167133676G>AClinGen:CA16610178C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2683T>C (p.Cys895Arg)6335SCN9AUncertain significance-1RCV001954049; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133684167133684167133684-
NM_001365536.1(SCN9A):c.2678A>G (p.Lys893Arg)6335SCN9AUncertain significancers1000128305RCV001214781; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671336891671336892:g.167133689T>C-
NM_001365536.1(SCN9A):c.2676C>T (p.Tyr892=)6335SCN9ALikely benignrs980034038RCV000877533; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671336911671336912:g.167133691G>A-
NM_001365536.1(SCN9A):c.2670G>A (p.Lys890=)6335SCN9ALikely benign-1RCV002116656; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133697167133697167133697-
NM_001365536.1(SCN9A):c.2667dup (p.Lys890Ter)6335SCN9APathogenic-1RCV001389492; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133699167133700167133699-
NM_001365536.1(SCN9A):c.2664T>G (p.Phe888Leu)6335SCN9AUncertain significance-1RCV002018290; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133703167133703167133703-
NM_001365536.1(SCN9A):c.2658G>A (p.Gln886=)6335SCN9ALikely benign-1RCV001447751; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133709167133709167133709-
NM_001365536.1(SCN9A):c.2652C>T (p.Gly884=)6335SCN9AUncertain significancers779391896RCV001056433; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337151671337152:g.167133715G>A-
NM_001365536.1(SCN9A):c.2650G>A (p.Gly884Ser)6335SCN9AUncertain significancers202177070RCV000808134; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671337171671337172:g.167133717C>T-
NM_001365536.1(SCN9A):c.2649C>T (p.Val883=)6335SCN9AConflicting interpretations of pathogenicityrs200618289RCV000321143|RCV001088990|RCV002450809; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671337181671337182:g.167133718G>AClinGen:CA1944225CN169374 not specified;
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)6335SCN9AUncertain significancers369148683RCV001325319|RCV002493700; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Or2167133720167133720167133720-
NM_001365536.1(SCN9A):c.2647G>A (p.Val883Ile)6335SCN9AUncertain significance-1RCV002036656; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133720167133720167133720-
NM_001365536.1(SCN9A):c.2634C>T (p.Phe878=)6335SCN9ALikely benignrs188678956RCV000435382|RCV000877209|RCV002436271; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671337331671337332:g.167133733G>AClinGen:CA1944228CN169374 not specified;
NM_001365536.1(SCN9A):c.2633T>C (p.Phe878Ser)6335SCN9AUncertain significancers1559002945RCV000702412; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133734167133734NC_000002.11:g.167133734A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2630T>G (p.Val877Gly)6335SCN9AUncertain significancers1697275496RCV001052183; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337371671337372:g.167133737A>C-
NM_001365536.1(SCN9A):c.2629G>A (p.Val877Ile)6335SCN9AUncertain significance-1RCV001365557; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133738167133738167133738-
NM_001365536.1(SCN9A):c.2628C>T (p.Ile876=)6335SCN9ALikely benign-1RCV001407315; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133739167133739167133739-
NM_001365536.1(SCN9A):c.2626A>G (p.Ile876Val)6335SCN9AUncertain significancers1417358362RCV000803016; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671337411671337412:g.167133741T>C-
NM_001365536.1(SCN9A):c.2620G>T (p.Ala874Ser)6335SCN9AUncertain significancers80356477RCV001061174; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337471671337472:g.167133747C>A-
NM_001365536.1(SCN9A):c.2619G>A (p.Leu873=)6335SCN9ALikely benign-1RCV002162421; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133748167133748167133748-
NM_001365536.1(SCN9A):c.2616G>A (p.Val872=)6335SCN9ALikely benignrs1574851774RCV000874082; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337511671337512:g.167133751C>T-
NM_001365536.1(SCN9A):c.2613A>G (p.Leu871=)6335SCN9ABenignrs200568637RCV000877395; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337541671337542:g.167133754T>C-
NM_001365536.1(SCN9A):c.2601T>A (p.Gly867=)6335SCN9ABenignrs199787949RCV000877396; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337661671337662:g.167133766A>T-
NM_001365536.1(SCN9A):c.2599G>C (p.Gly867Arg)6335SCN9AUncertain significancers1697277352RCV001325215; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133768167133768167133768-
NM_001365536.1(SCN9A):c.2596C>G (p.Leu866Val)6335SCN9AUncertain significancers1697277459RCV001061900; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337711671337712:g.167133771G>C-
NM_001365536.1(SCN9A):c.2595T>A (p.Ala865=)6335SCN9ALikely benignrs1574851833RCV000935595|RCV001439509; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337721671337722:g.167133772A>T-
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs)6335SCN9APathogenicrs753900410RCV000697073; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671337901671337902:g.167133790_167133790del-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2561T>C (p.Met854Thr)6335SCN9AUncertain significancers944479997RCV001306234; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133806167133806167133806-
NM_001365536.1(SCN9A):c.2556G>A (p.Leu852=)6335SCN9ALikely benignrs754155029RCV000647812|RCV002458117; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167133811167133811NC_000002.11:g.167133811C>TClinGen:CA1944238C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2554T>C (p.Leu852=)6335SCN9ALikely benignrs1261810400RCV000934770; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671338131671338132:g.167133813A>G-
NM_001365536.1(SCN9A):c.2541A>C (p.Lys847Asn)6335SCN9AUncertain significance-1RCV002046029; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133826167133826167133826-
NM_001365536.1(SCN9A):c.2539A>G (p.Lys847Glu)6335SCN9AUncertain significance-1RCV001907673; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133828167133828167133828-
NM_001365536.1(SCN9A):c.2530_2531delinsCG (p.Lys844Arg)6335SCN9AUncertain significance-1RCV002021213; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133836167133837167133836-
NM_001365536.1(SCN9A):c.2525T>G (p.Val842Gly)6335SCN9AUncertain significance-1RCV001901987; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133842167133842167133842-
NM_001365536.1(SCN9A):c.2522G>A (p.Arg841Gln)6335SCN9AUncertain significancers754483219RCV001225631; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671338451671338452:g.167133845C>T-
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter)6335SCN9APathogenicrs780673293RCV000506153|RCV001385121; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671338461671338462:g.167133846G>AClinGen:CA1944248CN169374 not specified;
NM_001365536.1(SCN9A):c.2518-1G>T6335SCN9ALikely pathogenic-1RCV001959572; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133850167133850167133850-
NM_001365536.1(SCN9A):c.2518-12A>G6335SCN9ALikely benign-1RCV001994885; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133861167133861167133861-
NM_001365536.1(SCN9A):c.2517+1G>C6335SCN9ALikely pathogenic-1RCV001376830; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134649167134649167134649-
NM_001365536.1(SCN9A):c.2517G>T (p.Leu839=)6335SCN9AConflicting interpretations of pathogenicityrs766730954RCV001266112|RCV001880109; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671346501671346502:g.167134650C>A-
NM_001365536.1(SCN9A):c.2507C>A (p.Ser836Ter)6335SCN9APathogenic-1RCV002004971; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134660167134660167134660-
NM_001365536.1(SCN9A):c.2504G>A (p.Arg835Gln)6335SCN9AUncertain significance-1RCV001508460|RCV001865943; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134663167134663167134663-
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter)6335SCN9APathogenicrs1329907808RCV000808846; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671346641671346642:g.167134664G>A-
NM_001365536.1(SCN9A):c.2490A>C (p.Gly830=)6335SCN9ALikely benign-1RCV002112860; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134677167134677167134677-
NM_001365536.1(SCN9A):c.2482G>A (p.Val828Met)6335SCN9AUncertain significance-1RCV001899352; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134685167134685167134685-
NM_001365536.1(SCN9A):c.2481T>C (p.Asp827=)6335SCN9ALikely benign-1RCV002149913; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134686167134686167134686-
NM_001365536.1(SCN9A):c.2477C>T (p.Ala826Val)6335SCN9AUncertain significance-1RCV002303145; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134690167134690167134690-
NM_001365536.1(SCN9A):c.2475A>G (p.Leu825=)6335SCN9ALikely benignrs1574853488RCV000982827|RCV001485772; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671346921671346922:g.167134692T>C-
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val)6335SCN9AUncertain significance-1RCV001699754|RCV001866267; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134700167134700167134700-
NM_001365536.1(SCN9A):c.2465A>C (p.Glu822Ala)6335SCN9AUncertain significancers755799553RCV000697021; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671347021671347022:g.167134702T>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs)6335SCN9APathogenicrs766212849RCV000527936|RCV000680094; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:97021671347091671347132:g.167134709_167134713delClinGen:CA1944269C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2440C>T (p.Leu814Phe)6335SCN9AUncertain significancers550245159RCV000700044; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134727167134727NC_000002.11:g.167134727G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2440C>G (p.Leu814Val)6335SCN9AUncertain significancers550245159RCV001066280; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671347271671347272:g.167134727G>C-
NM_001365536.1(SCN9A):c.2438G>A (p.Ser813Asn)6335SCN9AUncertain significancers372823438RCV001300093; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134729167134729167134729-
NM_001365536.1(SCN9A):c.2432T>C (p.Phe811Ser)6335SCN9AUncertain significancers182018126RCV000705002; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671347351671347352:g.167134735A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter)6335SCN9APathogenicrs769971743RCV000694550; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134743167134743NC_000002.11:g.167134743C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2422T>C (p.Trp808Arg)6335SCN9AUncertain significancers147639592RCV000593430|RCV000689705; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671347451671347452:g.167134745A>GClinGen:CA1944278C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2417T>C (p.Val806Ala)6335SCN9AUncertain significancers1174260601RCV000801714; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671347501671347502:g.167134750A>G-
NM_001365536.1(SCN9A):c.2411T>G (p.Phe804Cys)6335SCN9AUncertain significance-1RCV001973233; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134756167134756167134756-
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=)6335SCN9ABenign/Likely benignrs142219317RCV000301644|RCV000647809|RCV002450829; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671347581671347582:g.167134758A>GClinGen:CA1944279C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter)6335SCN9APathogenic-1RCV001390706; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134758167134758167134758-
NM_001365536.1(SCN9A):c.2405A>G (p.Glu802Gly)6335SCN9AUncertain significancers1697325250RCV001347830; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134762167134762167134762-
NM_001365536.1(SCN9A):c.2400A>G (p.Pro800=)6335SCN9AConflicting interpretations of pathogenicityrs774717311RCV000538862|RCV002456194; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671347671671347672:g.167134767T>CClinGen:CA1944281C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2391C>A (p.Ala797=)6335SCN9ALikely benign-1RCV001446539; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134776167134776167134776-
NM_001365536.1(SCN9A):c.2387T>C (p.Ile796Thr)6335SCN9AUncertain significance-1RCV001371933|RCV001773731; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167134780167134780167134780-
NM_001365536.1(SCN9A):c.2372T>C (p.Met791Thr)6335SCN9AUncertain significance-1RCV002046163; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134795167134795167134795-
NM_001365536.1(SCN9A):c.2365G>A (p.Ala789Thr)6335SCN9AUncertain significancers1060502052RCV000473467|RCV001508461; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN5172022167134802167134802NC_000002.11:g.167134802C>TClinGen:CA16610197C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2363C>T (p.Ala788Val)6335SCN9AUncertain significance-1RCV001978046; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134804167134804167134804-
NM_001365536.1(SCN9A):c.2354G>T (p.Gly785Val)6335SCN9AUncertain significance-1RCV002014717; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134813167134813167134813-
NM_001365536.1(SCN9A):c.2352T>C (p.Thr784=)6335SCN9ALikely benignrs1574853796RCV000975935|RCV001398490; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671348151671348152:g.167134815A>G-
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)6335SCN9AUncertain significancers200624920RCV000235887|RCV000240437|RCV000765525|RCV001336522|RCV002444935; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671348161671348162:g.167134816G>CClinGen:CA1944283C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser)6335SCN9AUncertain significancers554539624RCV000812155|RCV002495132; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026; MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Or21671348191671348192:g.167134819A>G-
NM_001365536.1(SCN9A):c.2344-2A>G6335SCN9ALikely pathogenic-1RCV002006442; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134825167134825167134825-
NM_001365536.1(SCN9A):c.2344-15A>G6335SCN9ALikely benign-1RCV002177539; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167134838167134838167134838-
NM_001365536.1(SCN9A):c.2344-20A>T6335SCN9ABenign/Likely benignrs199905079RCV000428916|RCV001702457|RCV002061508; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671348431671348432:g.167134843T>AClinGen:CA1944287CN169374 not specified;
NM_001365536.1(SCN9A):c.2343+18T>C6335SCN9ALikely benign-1RCV002078748; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136849167136849167136849-
NM_001365536.1(SCN9A):c.2343+17G>A6335SCN9ABenign-1RCV002132143; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136850167136850167136850-
NM_001365536.1(SCN9A):c.2343+13T>C6335SCN9ALikely benign-1RCV002210132; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136854167136854167136854-
NM_001365536.1(SCN9A):c.2343+9C>T6335SCN9ALikely benignrs190068937RCV000867221; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671368581671368582:g.167136858G>A-
NM_001365536.1(SCN9A):c.2343+4A>G6335SCN9AUncertain significance-1RCV002009133; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136863167136863167136863-
NM_001365536.1(SCN9A):c.2343G>A (p.Leu781=)6335SCN9AUncertain significancers1284534189RCV001298313; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136867167136867167136867-
NM_001365536.1(SCN9A):c.2342T>C (p.Leu781Ser)6335SCN9AUncertain significancers1553488743RCV001215178; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671368681671368682:g.167136868A>G-
NM_001365536.1(SCN9A):c.2339A>G (p.Asn780Ser)6335SCN9AUncertain significancers1060502048RCV000477516; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167136871167136871NC_000002.11:g.167136871T>CClinGen:CA16610280C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2334A>G (p.Ile778Met)6335SCN9AUncertain significance-1RCV001987777; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136876167136876167136876-
NM_001365536.1(SCN9A):c.2330C>T (p.Ala777Val)6335SCN9AUncertain significancers749482425RCV001317111|RCV001815538; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167136880167136880167136880-
NM_001365536.1(SCN9A):c.2326C>T (p.Leu776Phe)6335SCN9AUncertain significancers771120873RCV000704510; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136884167136884NC_000002.11:g.167136884G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2325A>G (p.Val775=)6335SCN9ALikely benign-1RCV002112958; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136885167136885167136885-
NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer)6335SCN9APathogenicrs1553488759RCV000550441; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671368861671368872:g.167136886_167136887insCATTTTTGAATTCCTCAGTClinGen:CA658657114C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2316C>A (p.Phe772Leu)6335SCN9AUncertain significancers774613581RCV000701283; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136894167136894NC_000002.11:g.167136894G>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2316C>T (p.Phe772=)6335SCN9ALikely benign-1RCV001476871; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136894167136894167136894-
NM_001365536.1(SCN9A):c.2311G>A (p.Glu771Lys)6335SCN9AUncertain significancers946496831RCV001349628|RCV002447430; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167136899167136899167136899-
NM_001365536.1(SCN9A):c.2308G>A (p.Glu770Lys)6335SCN9AUncertain significance-1RCV001962589; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136902167136902167136902-
NM_001365536.1(SCN9A):c.2304G>A (p.Met768Ile)6335SCN9AUncertain significancers201736678RCV000239913|RCV001509166|RCV002446483; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671369061671369062:g.167136906C>TClinGen:CA1944301C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2303T>A (p.Met768Lys)6335SCN9AUncertain significance-1RCV001908946; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136907167136907167136907-
NM_001365536.1(SCN9A):c.2302A>G (p.Met768Val)6335SCN9AUncertain significancers1574856821RCV000796189; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671369081671369082:g.167136908T>C-
NM_001365536.1(SCN9A):c.2300C>A (p.Pro767Gln)6335SCN9AUncertain significancers978208178RCV001243835; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671369101671369102:g.167136910G>T-
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)6335SCN9AUncertain significancers199715588RCV000519445|RCV000647796|RCV002448576; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671369111671369112:g.167136911G>TClinGen:CA1944302C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser)6335SCN9AUncertain significancers199715588RCV001197769; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671369111671369112:g.167136911G>A-
NM_001365536.1(SCN9A):c.2295C>T (p.His765=)6335SCN9ALikely benign-1RCV001502602; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136915167136915167136915-
NM_001365536.1(SCN9A):c.2287A>G (p.Met763Val)6335SCN9AUncertain significancers200612128RCV001215645; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671369231671369232:g.167136923T>C-
NM_001365536.1(SCN9A):c.2286T>C (p.Ala762=)6335SCN9ALikely benign-1RCV001426270; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136924167136924167136924-
NM_001365536.1(SCN9A):c.2282T>A (p.Met761Lys)6335SCN9AUncertain significancers1553488787RCV000528563; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671369281671369282:g.167136928A>TClinGen:CA349079558C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2277A>G (p.Leu759=)6335SCN9ALikely benign-1RCV001424231|RCV002227274; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN5172022167136933167136933167136933-
NM_001365536.1(SCN9A):c.2277A>T (p.Leu759Phe)6335SCN9AUncertain significance-1RCV001964335; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136933167136933167136933-
NM_001365536.1(SCN9A):c.2271C>T (p.Asn757=)6335SCN9ALikely benign-1RCV001453021; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136939167136939167136939-
NM_001365536.1(SCN9A):c.2270A>G (p.Asn757Ser)6335SCN9AUncertain significancers1434787082RCV000647759; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167136940167136940NC_000002.11:g.167136940T>CClinGen:CA349079586C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2258G>T (p.Cys753Phe)6335SCN9AUncertain significancers376502773RCV001318507|RCV002431908; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167136952167136952167136952-
NM_001365536.1(SCN9A):c.2258G>A (p.Cys753Tyr)6335SCN9AUncertain significancers376502773RCV001321371; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136952167136952167136952-
NM_001365536.1(SCN9A):c.2246C>T (p.Ala749Val)6335SCN9AUncertain significance-1RCV001904291; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167136964167136964167136964-
NM_001365536.1(SCN9A):c.2242C>G (p.Leu748Val)6335SCN9AUncertain significancers764893083RCV001312633|RCV002267104; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167136968167136968167136968-
NM_001365536.1(SCN9A):c.2240A>C (p.Asp747Ala)6335SCN9AUncertain significancers201744417RCV001053026; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671369701671369702:g.167136970T>G-
NM_001365536.1(SCN9A):c.2222T>G (p.Val741Gly)6335SCN9AUncertain significancers1559006108RCV000693906; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671369881671369882:g.167136988A>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met)6335SCN9AUncertain significancers375688386RCV000726385|RCV000806907|RCV002429233; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671369901671369902:g.167136990A>CClinGen:CA1944308CN169374 not specified;
NM_001365536.1(SCN9A):c.2205G>C (p.Lys735Asn)6335SCN9AUncertain significancers373052263RCV000647794; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167137005167137005NC_000002.11:g.167137005C>GClinGen:CA1944310C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2204del (p.Lys735fs)6335SCN9APathogenic-1RCV001380109; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137006167137006167137005-
NM_001365536.1(SCN9A):c.2202A>G (p.Lys734=)6335SCN9ALikely benign-1RCV002214052; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137008167137008167137008-
NM_001365536.1(SCN9A):c.2201A>G (p.Lys734Arg)6335SCN9AUncertain significancers1697431230RCV001345361; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137009167137009167137009-
NM_001365536.1(SCN9A):c.2185T>C (p.Tyr729His)6335SCN9AUncertain significancers749350764RCV000805005; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671370251671370252:g.167137025A>G-
NM_001365536.1(SCN9A):c.2168T>A (p.Ile723Asn)6335SCN9AUncertain significancers1697433577RCV001234832; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671370421671370422:g.167137042A>T-
NM_001365536.1(SCN9A):c.2166G>C (p.Leu722Phe)6335SCN9AUncertain significancers772492538RCV000697253|RCV001311224|RCV002422537; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671370441671370442:g.167137044C>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2163C>A (p.Phe721Leu)6335SCN9AUncertain significancers1574857195RCV000793150; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671370471671370472:g.167137047G>T-
NM_001365536.1(SCN9A):c.2161T>G (p.Phe721Val)6335SCN9AUncertain significancers201266701RCV001341201|RCV002419003; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167137049167137049167137049-
NM_001365536.1(SCN9A):c.2158A>C (p.Lys720Gln)6335SCN9AUncertain significancers1281170744RCV001050628|RCV002416381; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671370521671370522:g.167137052T>G-
NM_001365536.1(SCN9A):c.2155C>T (p.His719Tyr)6335SCN9AUncertain significancers1482628642RCV001039724; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370551671370552:g.167137055G>A-
NM_001365536.1(SCN9A):c.2153C>A (p.Ala718Glu)6335SCN9AUncertain significance-1RCV001928338; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137057167137057167137057-
NM_001365536.1(SCN9A):c.2152G>A (p.Ala718Thr)6335SCN9AUncertain significancers1209373152RCV001231145; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671370581671370582:g.167137058C>T-
NM_001365536.1(SCN9A):c.2150T>C (p.Phe717Ser)6335SCN9AUncertain significancers776026470RCV000698289; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370601671370602:g.167137060A>G-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2148A>T (p.Arg716Ser)6335SCN9AUncertain significance-1RCV001370972; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137062167137062167137062-
NM_001365536.1(SCN9A):c.2147G>A (p.Arg716Lys)6335SCN9AUncertain significancers1559006316RCV000695708; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137063167137063NC_000002.11:g.167137063C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=)6335SCN9AConflicting interpretations of pathogenicity-1RCV001442364|RCV002276518; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167137064167137064167137064-
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter)6335SCN9APathogenicrs1057518162RCV000414021|RCV000647773; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370691671370692:g.167137069C>TClinGen:CA16042407C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2137T>A (p.Trp713Arg)6335SCN9AUncertain significancers200879772RCV000698305; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370731671370732:g.167137073A>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2135C>T (p.Pro712Leu)6335SCN9AUncertain significancers867106113RCV000442466|RCV001371704|RCV002418244; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671370751671370752:g.167137075G>AClinGen:CA16603177CN517202 not provided;
NM_001365536.1(SCN9A):c.2133A>C (p.Pro711=)6335SCN9ALikely benignrs1574857355RCV000893097|RCV001457312; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370771671370772:g.167137077T>G-
NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr)6335SCN9AUncertain significancers201709980RCV000470604|RCV001198009; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167137081167137081NC_000002.11:g.167137081C>TClinGen:CA1944324C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2128T>C (p.Cys710Arg)6335SCN9AUncertain significancers766287092RCV000528338; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671370821671370822:g.167137082A>GClinGen:CA1944325C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2112_2114del (p.Glu705del)6335SCN9AUncertain significancers1304184879RCV001067492; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671370961671370982:g.167137096_167137098del-
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter)6335SCN9APathogenicrs779327684RCV000549923; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167137100167137101NC_000002.11:g.167137102dupClinGen:CA59796737C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2105-8dup6335SCN9ABenign-1RCV002117915; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137112167137113167137112-
NM_001365536.1(SCN9A):c.2105-14C>A6335SCN9ALikely benign-1RCV002076781; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167137119167137119167137119-
NM_001365536.1(SCN9A):c.2104+5G>C6335SCN9AUncertain significancers200386296RCV001035512; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671381841671381842:g.167138184C>G-
NM_001365536.1(SCN9A):c.2104+4T>G6335SCN9AUncertain significancers367569684RCV001244796; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671381851671381852:g.167138185A>C-
NM_001365536.1(SCN9A):c.2097T>C (p.Thr699=)6335SCN9ALikely benign-1RCV002143840; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138196167138196167138196-
NM_001365536.1(SCN9A):c.2086T>C (p.Leu696=)6335SCN9ALikely benign-1RCV002220243; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138207167138207167138207-
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met)6335SCN9AUncertain significancers199588089RCV000647766|RCV000727145|RCV002418042|RCV002479944; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0009459,Med2167138208167138208NC_000002.11:g.167138208T>CClinGen:CA1944342C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2080A>G (p.Ser694Gly)6335SCN9AUncertain significance-1RCV001373277; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138213167138213167138213-
NM_001365536.1(SCN9A):c.2074A>G (p.Arg692Gly)6335SCN9AUncertain significance-1RCV001944213; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138219167138219167138219-
NM_001365536.1(SCN9A):c.2073T>G (p.Ser691Arg)6335SCN9AUncertain significancers1697496394RCV001038341|RCV002285436; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221671382201671382202:g.167138220A>C-
NM_001365536.1(SCN9A):c.2063G>A (p.Arg688Lys)6335SCN9AUncertain significancers372147847RCV000809187; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671382301671382302:g.167138230C>T-
NM_001365536.1(SCN9A):c.2063G>C (p.Arg688Thr)6335SCN9AUncertain significancers372147847RCV001204849; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671382301671382302:g.167138230C>G-
NM_001365536.1(SCN9A):c.2061G>C (p.Gln687His)6335SCN9AUncertain significancers1245649359RCV001060512; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671382321671382322:g.167138232C>G-
NM_001365536.1(SCN9A):c.2053C>T (p.Leu685Phe)6335SCN9AUncertain significancers1559007508RCV000687573; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138240167138240NC_000002.11:g.167138240G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2052C>T (p.Asn684=)6335SCN9ALikely benign-1RCV001451162; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138241167138241167138241-
NM_001365536.1(SCN9A):c.2048C>T (p.Pro683Leu)6335SCN9AUncertain significance-1RCV001900223; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138245167138245167138245-
NM_001365536.1(SCN9A):c.2047C>G (p.Pro683Ala)6335SCN9AUncertain significancers200805909RCV000647768; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167138246167138246NC_000002.11:g.167138246G>CClinGen:CA1944352C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2038C>G (p.Leu680Val)6335SCN9AUncertain significancers369396806RCV000705961; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138255167138255NC_000002.11:g.167138255G>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2036T>C (p.Met679Thr)6335SCN9AUncertain significance-1RCV001360076; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138257167138257167138257-
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs)6335SCN9APathogenicrs1574859556RCV000813927; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671382601671382602:g.167138260_167138260del-
NM_001365536.1(SCN9A):c.2032G>A (p.Asp678Asn)6335SCN9AUncertain significance-1RCV001954377; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138261167138261167138261-
NM_001365536.1(SCN9A):c.2028A>G (p.Ser676=)6335SCN9ALikely benign-1RCV002099561; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138265167138265167138265-
NM_001365536.1(SCN9A):c.2020C>T (p.Leu674Phe)6335SCN9AUncertain significance-1RCV001902502; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138273167138273167138273-
NM_001365536.1(SCN9A):c.2018A>G (p.Tyr673Cys)6335SCN9AUncertain significancers1433498013RCV000647784; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167138275167138275NC_000002.11:g.167138275T>CClinGen:CA349081236C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2017T>C (p.Tyr673His)6335SCN9AUncertain significance-1RCV001920715; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138276167138276167138276-
NM_001365536.1(SCN9A):c.2016C>T (p.Ser672=)6335SCN9ALikely benign-1RCV002173131; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138277167138277167138277-
NM_001365536.1(SCN9A):c.2008_2010del (p.Cys670del)6335SCN9AUncertain significancers1697500605RCV001349092; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138283167138285167138282-
NM_001365536.1(SCN9A):c.2009G>A (p.Cys670Tyr)6335SCN9AUncertain significancers1295530014RCV001308265; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138284167138284167138284-
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)6335SCN9AConflicting interpretations of pathogenicityrs200374987RCV000535303|RCV000765526|RCV000729429|RCV002420489; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions|MedGen:CN517202|MeSH:D030342,MedGen:C09501232167138287167138287NC_000002.11:g.167138287C>TClinGen:CA1944360C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2006G>T (p.Arg669Leu)6335SCN9AUncertain significance-1RCV001371799; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138287167138287167138287-
NM_001365536.1(SCN9A):c.2005C>T (p.Arg669Cys)6335SCN9AConflicting interpretations of pathogenicityrs200174262RCV000523022|RCV000704306|RCV002420307; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671382881671382882:g.167138288G>AClinGen:CA1944361C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2004G>T (p.Arg668Ser)6335SCN9AUncertain significancers200970256RCV000521779|RCV000690911; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671382891671382892:g.167138289C>AClinGen:CA1944362C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn)6335SCN9AUncertain significancers369989247RCV000795381|RCV001132096|RCV001133027|RCV001132095; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orpha21671382951671382952:g.167138295C>G-
NM_001365536.1(SCN9A):c.1993C>T (p.His665Tyr)6335SCN9AUncertain significancers375720286RCV001214552; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671383001671383002:g.167138300G>A-
NM_001365536.1(SCN9A):c.1989A>G (p.Gln663=)6335SCN9ALikely benign-1RCV002074638; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138304167138304167138304-
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met)6335SCN9AUncertain significancers200965749RCV000546296|RCV000655987|RCV002413369; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MeSH:D030342,MedGen:C095012321671383141671383142:g.167138314G>AClinGen:CA1944370C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1975-12dup6335SCN9ABenignrs35888674RCV000153919|RCV000240418|RCV000261491|RCV000274450|RCV000301438|RCV000314398|RCV000370831|RCV000353924|RCV000408317|RCV000490270|RCV000713168|RCV000986926; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:C0002768|MONDO:MONDO:0000032,MedGen:CN2393821671383201671383212:g.167138320_167138321insAClinGen:CA180418C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1975-12_1975-5dup6335SCN9ALikely benignrs35888674RCV000535939; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671383201671383212:g.167138320_167138321insAAAAAAAAClinGen:CA658657115C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1975-12_1975-11dup6335SCN9ALikely benignrs35888674RCV000863352; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671383201671383212:g.167138320_167138321insAA-
NM_001365536.1(SCN9A):c.1975-3del6335SCN9ABenign/Likely benignrs35888674RCV000174521|RCV000239857|RCV000273163|RCV000331824|RCV000323975|RCV000325888|RCV000382735|RCV000384003|RCV000286093; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:CN239438|MONDO:MONDO:0018214,MedGen:C35028021671383211671383212:g.167138321_167138321delClinGen:CA201031C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1975-8T>A6335SCN9AConflicting interpretations of pathogenicityrs752961542RCV000358449|RCV000726560|RCV001088956; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671383261671383262:g.167138326A>TClinGen:CA1944372CN169374 not specified;
NM_001365536.1(SCN9A):c.1975-9T>G6335SCN9ALikely benign-1RCV001458833; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138327167138327167138327-
NM_001365536.1(SCN9A):c.1975-12_1975-11insA6335SCN9ALikely benign-1RCV002216978; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138329167138330167138329-
NM_001365536.1(SCN9A):c.1975-12T>C6335SCN9ALikely benign-1RCV002177798; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138330167138330167138330-
NM_001365536.1(SCN9A):c.1975-16T>C6335SCN9ALikely benign-1RCV002103248; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138334167138334167138334-
NM_001365536.1(SCN9A):c.1975-17A>G6335SCN9ALikely benign-1RCV002120359; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167138335167138335167138335-
NM_001365536.1(SCN9A):c.1956G>C (p.Lys652Asn)6335SCN9ALikely benign-1RCV002220085; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167140981167140981167140981-
NM_001365536.1(SCN9A):c.1940A>T (p.Glu647Val)6335SCN9AUncertain significancers754455081RCV000822298; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671409971671409972:g.167140997T>A-
NM_001365536.1(SCN9A):c.1922A>G (p.Asn641Ser)6335SCN9AUncertain significancers375858685RCV000647786; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671410151671410152:g.167141015T>CClinGen:CA1944398C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)6335SCN9AConflicting interpretations of pathogenicityrs121908918RCV000006738|RCV000557785|RCV001535456|RCV002408454; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642,Orp21671410161671410162:g.167141016T>AClinGen:CA118164,UniProtKB:Q15858#VAR_064604,OMIM:603415.0018C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1914G>A (p.Met638Ile)6335SCN9AUncertain significancers1680907702RCV001053676; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671410231671410232:g.167141023C>T-
NM_001365536.1(SCN9A):c.1912A>C (p.Met638Leu)6335SCN9AUncertain significancers746665802RCV000821304|RCV002408980; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671410251671410252:g.167141025T>G-
NM_001365536.1(SCN9A):c.1905A>G (p.Ser635=)6335SCN9ALikely benign-1RCV001483116; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141032167141032167141032-
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter)6335SCN9APathogenicrs1411870484RCV000647776; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167141033167141033NC_000002.11:g.167141033G>CClinGen:CA349082766C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1904C>T (p.Ser635Leu)6335SCN9AUncertain significancers1411870484RCV000687050; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141033167141033NC_000002.11:g.167141033G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1901G>A (p.Arg634His)6335SCN9AUncertain significancers774510851RCV000220638|RCV000647758; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671410361671410362:g.167141036C>TClinGen:CA1944406C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1901G>T (p.Arg634Leu)6335SCN9AUncertain significancers774510851RCV000542956; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167141036167141036NC_000002.11:g.167141036C>AClinGen:CA59799292C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1900C>T (p.Arg634Cys)6335SCN9AUncertain significancers371543591RCV000686484; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141037167141037NC_000002.11:g.167141037G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1891G>T (p.Val631Phe)6335SCN9AUncertain significancers767605658RCV001313280; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141046167141046167141046-
NM_001365536.1(SCN9A):c.1890G>T (p.Leu630=)6335SCN9ALikely benignrs752930812RCV000904871; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671410471671410472:g.167141047C>A-
NM_001365536.1(SCN9A):c.1890G>A (p.Leu630=)6335SCN9AUncertain significancers752930812RCV001305796; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141047167141047167141047-
NM_001365536.1(SCN9A):c.1883T>C (p.Val628Ala)6335SCN9AUncertain significance-1RCV001995200; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141054167141054167141054-
NM_001365536.1(SCN9A):c.1876G>C (p.Gly626Arg)6335SCN9AUncertain significancers764566980RCV000791700; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671410611671410612:g.167141061C>G-
NM_001365536.1(SCN9A):c.1875C>T (p.Asn625=)6335SCN9ALikely benign-1RCV001415230; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141062167141062167141062-
NM_001365536.1(SCN9A):c.1866G>A (p.Val622=)6335SCN9ALikely benign-1RCV001393698; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141071167141071167141071-
NM_001365536.1(SCN9A):c.1859G>A (p.Ser620Asn)6335SCN9AUncertain significance-1RCV001924011; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141078167141078167141078-
NM_001365536.1(SCN9A):c.1856A>C (p.His619Pro)6335SCN9AUncertain significancers757910184RCV000533374|RCV002413587; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671410811671410812:g.167141081T>GClinGen:CA1944416C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1848G>A (p.Gly616=)6335SCN9ALikely benign-1RCV002138471; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141089167141089167141089-
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)6335SCN9AUncertain significancers201338643RCV000544928|RCV000655988|RCV001535614|RCV001557778|RCV002413370|RCV002475989; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:00081721671410911671410912:g.167141091C>TClinGen:CA1944418C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1845C>T (p.Asn615=)6335SCN9ALikely benignrs199827752RCV000867261; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671410921671410922:g.167141092G>A-
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser)6335SCN9AUncertain significancers780995899RCV000785869|RCV001216997; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671410931671410932:g.167141093T>C-
NM_001365536.1(SCN9A):c.1841T>G (p.Val614Gly)6335SCN9AUncertain significancers1574864151RCV000822878; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671410961671410962:g.167141096A>C-
NM_001365536.1(SCN9A):c.1829C>T (p.Pro610Leu)6335SCN9AUncertain significancers201499827RCV001215691; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671411081671411082:g.167141108G>A-
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)6335SCN9ABenign/Likely benignrs41268673RCV000020511|RCV000118296|RCV000314793|RCV000474864|RCV000713167|RCV001136466|RCV001136467; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN169374|MedGen:CN239438|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MO21671411091671411092:g.167141109G>TClinGen:CA155119C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1826C>T (p.Pro609Leu)6335SCN9AUncertain significancers1298846957RCV001321899|RCV001751619; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167141111167141111167141111-
NM_001365536.1(SCN9A):c.1820G>T (p.Arg607Met)6335SCN9AUncertain significancers373097296RCV000798046; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671411171671411172:g.167141117C>A-
NM_001365536.1(SCN9A):c.1818T>G (p.Ser606Arg)6335SCN9AUncertain significancers202141567RCV000685306; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141119167141119NC_000002.11:g.167141119A>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1818T>C (p.Ser606=)6335SCN9ALikely benignrs202141567RCV000915226|RCV001492296; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671411191671411192:g.167141119A>G-
NM_001365536.1(SCN9A):c.1815C>T (p.Ala605=)6335SCN9ALikely benign-1RCV001406183; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141122167141122167141122-
NM_001365536.1(SCN9A):c.1806C>G (p.Ile602Met)6335SCN9AUncertain significance-1RCV001365197; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141131167141131167141131-
NM_001365536.1(SCN9A):c.1805T>A (p.Ile602Asn)6335SCN9AUncertain significance-1RCV002018866; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141132167141132167141132-
NM_001365536.1(SCN9A):c.1804A>C (p.Ile602Leu)6335SCN9AUncertain significance-1RCV002303307; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141133167141133167141133-
NM_001365536.1(SCN9A):c.1795A>C (p.Ser599Arg)6335SCN9AUncertain significance-1RCV002297586; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141142167141142167141142-
NM_001365536.1(SCN9A):c.1792C>T (p.Arg598Cys)6335SCN9AUncertain significancers200065703RCV001036458; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671411451671411452:g.167141145G>A-
NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)6335SCN9AUncertain significancers200821646RCV000456843|RCV002411460; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167141147167141147NC_000002.11:g.167141147C>TClinGen:CA1944432C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1789C>G (p.Arg597Gly)6335SCN9AUncertain significancers1448265143RCV000819124; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671411481671411482:g.167141148G>C-
NM_001365536.1(SCN9A):c.1788G>A (p.Glu596=)6335SCN9ALikely benign-1RCV002101872; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141149167141149167141149-
NM_001365536.1(SCN9A):c.1776C>T (p.His592=)6335SCN9ALikely benign-1RCV001430605; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141161167141161167141161-
NM_001365536.1(SCN9A):c.1771C>A (p.Pro591Thr)6335SCN9AUncertain significance-1RCV001936275; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141166167141166167141166-
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs)6335SCN9APathogenicrs775868908RCV000805408; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671411681671411712:g.167141168_167141171del-
NM_001365536.1(SCN9A):c.1757G>A (p.Gly586Asp)6335SCN9AUncertain significancers1574864414RCV000997297|RCV001215613; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671411801671411802:g.167141180C>T-
NM_001365536.1(SCN9A):c.1756G>A (p.Gly586Ser)6335SCN9AUncertain significancers754646586RCV001239224|RCV001760258; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221671411811671411812:g.167141181C>T-
NM_001365536.1(SCN9A):c.1755G>A (p.Arg585=)6335SCN9ALikely benignrs201643504RCV000869168; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671411821671411822:g.167141182C>T-
NM_001365536.1(SCN9A):c.1754G>A (p.Arg585Lys)6335SCN9AUncertain significancers747765478RCV000696765; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141183167141183NC_000002.11:g.167141183C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys)6335SCN9AUncertain significancers201391809RCV000647793|RCV001336520|RCV002397277; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167141193167141193NC_000002.11:g.167141193C>TClinGen:CA1944440C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1729A>G (p.Ile577Val)6335SCN9AUncertain significancers201137237RCV000458615; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167141208167141208NC_000002.11:g.167141208T>CClinGen:CA16610198C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1726A>G (p.Ser576Gly)6335SCN9AUncertain significancers202090277RCV000647764|RCV001558683|RCV002397276; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671412111671412112:g.167141211T>CClinGen:CA1944441C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1721A>G (p.Glu574Gly)6335SCN9AUncertain significancers1697654822RCV001343661; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141216167141216167141216-
NM_001365536.1(SCN9A):c.1716T>C (p.Asp572=)6335SCN9ALikely benign-1RCV002139566; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141221167141221167141221-
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn)6335SCN9AUncertain significancers747040987RCV000460554|RCV000730081|RCV001002628; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|MedGen:CN16937421671412231671412232:g.167141223C>TClinGen:CA1944444C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1699G>A (p.Glu567Lys)6335SCN9AUncertain significance-1RCV001915029; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141238167141238167141238-
NM_001365536.1(SCN9A):c.1695A>G (p.Gly565=)6335SCN9ALikely benignrs1574864584RCV000866383|RCV001468344; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671412421671412422:g.167141242T>C-
NM_001365536.1(SCN9A):c.1692A>G (p.Ile564Met)6335SCN9AUncertain significance-1RCV001892640; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141245167141245167141245-
NM_001365536.1(SCN9A):c.1691T>C (p.Ile564Thr)6335SCN9AUncertain significancers777036338RCV001071755; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671412461671412462:g.167141246A>G-
NM_001365536.1(SCN9A):c.1684A>G (p.Arg562Gly)6335SCN9AUncertain significancers765529902RCV001217327; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671412531671412532:g.167141253T>C-
NM_001365536.1(SCN9A):c.1678_1679insCT (p.Arg560fs)6335SCN9APathogenic-1RCV001911206; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141258167141259167141258-
NM_001365536.1(SCN9A):c.1678A>C (p.Arg560=)6335SCN9ALikely benign-1RCV002142240; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141259167141259167141259-
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser)6335SCN9AUncertain significancers201569378RCV000492905|RCV000647785|RCV001001938|RCV002413359; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN169374|MeSH:D030342,MedGen:C095012321671412621671412622:g.167141262C>TClinGen:CA1944450C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1665T>C (p.Phe555=)6335SCN9ALikely benign-1RCV001484360; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141272167141272167141272-
NM_001365536.1(SCN9A):c.1660C>A (p.Leu554Ile)6335SCN9AUncertain significancers201994523RCV000222473|RCV000541246|RCV002399800; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671412771671412772:g.167141277G>TClinGen:CA1944454C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1659T>G (p.Ser553Arg)6335SCN9AUncertain significance-1RCV001944005; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141278167141278167141278-
NM_001365536.1(SCN9A):c.1658G>A (p.Ser553Asn)6335SCN9AUncertain significancers971476486RCV001068769; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671412791671412792:g.167141279C>T-
NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg)6335SCN9AUncertain significancers200192044RCV000219509|RCV000526375|RCV002399799; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671412871671412872:g.167141287G>CClinGen:CA1944455C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1643G>A (p.Arg548Gln)6335SCN9AUncertain significancers201247595RCV000555619|RCV002404513; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671412941671412942:g.167141294C>TClinGen:CA1944458C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)6335SCN9APathogenicrs1057518900RCV000414858|RCV000824563|RCV002263668; NHuman Phenotype Ontology:HP:0003404,Human Phenotype Ontology:HP:0007021,MedGen:C0344307|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167141295167141295NC_000002.11:g.167141295G>AClinGen:CA16043378C0344307 Pain insensitivity;
NM_001365536.1(SCN9A):c.1640G>T (p.Arg547Met)6335SCN9AUncertain significance-1RCV002016458; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141297167141297167141297-
NM_001365536.1(SCN9A):c.1626C>G (p.Ser542=)6335SCN9ALikely benignrs745771046RCV000869574; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671413111671413112:g.167141311G>C-
NM_001365536.1(SCN9A):c.1622G>A (p.Gly541Asp)6335SCN9AUncertain significancers545101943RCV000808250; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671413151671413152:g.167141315C>T-
NM_001365536.1(SCN9A):c.1618C>T (p.Arg540Cys)6335SCN9ALikely benignrs200568743RCV000703557; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141319167141319NC_000002.11:g.167141319G>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1614C>A (p.Ser538Arg)6335SCN9AUncertain significance-1RCV002048173; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141323167141323167141323-
NM_001365536.1(SCN9A):c.1614C>T (p.Ser538=)6335SCN9ALikely benign-1RCV002178963; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141323167141323167141323-
NM_001365536.1(SCN9A):c.1611C>T (p.Leu537=)6335SCN9ALikely benign-1RCV001468048; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141326167141326167141326-
NM_001365536.1(SCN9A):c.1607C>T (p.Pro536Leu)6335SCN9AUncertain significance-1RCV001942470; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141330167141330167141330-
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)6335SCN9AUncertain significancers201354321RCV000647800|RCV000757742|RCV000765527|RCV001809733; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN517202|6 conditions|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167141333167141333NC_000002.11:g.167141333G>AClinGen:CA1944468C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1603T>G (p.Ser535Ala)6335SCN9AUncertain significancers774903062RCV000540771|RCV001764586; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221671413341671413342:g.167141334A>CClinGen:CA1944469C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1603-21dup6335SCN9ABenign/Likely benignrs200430382RCV000266043|RCV000318934|RCV000357336|RCV000358460|RCV002057587; NMedGen:CN239438|MONDO:MONDO:0800207,MedGen:C3276706|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363821671413471671413482:g.167141347_167141348insAClinGen:CA1944472C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1603-13A>T6335SCN9ALikely benign-1RCV002115351; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141347167141347167141347-
NM_001365536.1(SCN9A):c.1603-14T>A6335SCN9ALikely benign-1RCV002177677; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141348167141348167141348-
NM_001365536.1(SCN9A):c.1602+5C>T6335SCN9AUncertain significancers1553490266RCV000647792; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671428411671428412:g.167142841G>AClinGen:CA658795952C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1602+5del6335SCN9AUncertain significancers1488594635RCV000701118|RCV002397451; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671428411671428412:g.167142841_167142841del-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1602+1G>A6335SCN9ALikely pathogenic-1RCV001970422; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142845167142845167142845-
NM_001365536.1(SCN9A):c.1598A>G (p.Asn533Ser)6335SCN9AUncertain significancers199847980RCV000647761|RCV002397275; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167142850167142850NC_000002.11:g.167142850T>CClinGen:CA1944490C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1595C>G (p.Pro532Arg)6335SCN9AUncertain significancers1416039322RCV000647801; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167142853167142853NC_000002.11:g.167142853G>CClinGen:CA349084182C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1587G>A (p.Leu529=)6335SCN9ALikely benign-1RCV002163349; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142861167142861167142861-
NM_001365536.1(SCN9A):c.1585T>C (p.Leu529=)6335SCN9ALikely benign-1RCV001496540; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142863167142863167142863-
NM_001365536.1(SCN9A):c.1585T>A (p.Leu529Met)6335SCN9AUncertain significance-1RCV001935769; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142863167142863167142863-
NM_001365536.1(SCN9A):c.1583G>C (p.Arg528Thr)6335SCN9AUncertain significancers1403714469RCV001070352; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671428651671428652:g.167142865C>G-
NM_001365536.1(SCN9A):c.1583G>A (p.Arg528Lys)6335SCN9AUncertain significancers1403714469RCV001303834; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142865167142865167142865-
NM_001365536.1(SCN9A):c.1581G>A (p.Lys527=)6335SCN9ALikely benignrs1212310519RCV000647808|RCV002397278; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671428671671428672:g.167142867C>TClinGen:CA429978273C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1574A>G (p.His525Arg)6335SCN9AUncertain significance-1RCV002021766; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142874167142874167142874-
NM_001365536.1(SCN9A):c.1568G>A (p.Arg523Gln)6335SCN9AUncertain significancers548357583RCV001067907; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671428801671428802:g.167142880C>T-
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter)6335SCN9APathogenicrs202211795RCV001046300|RCV001509167; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221671428811671428812:g.167142881G>A-
NM_001365536.1(SCN9A):c.1566G>A (p.Arg522=)6335SCN9ALikely benignrs1340370507RCV000526193|RCV002404512; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167142882167142882NC_000002.11:g.167142882C>TClinGen:CA429978290C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1558G>C (p.Gly520Arg)6335SCN9AUncertain significancers1553490304RCV000647778; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167142890167142890NC_000002.11:g.167142890C>GClinGen:CA349084351C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)6335SCN9AConflicting interpretations of pathogenicityrs187453572RCV000290806|RCV000348148|RCV000277449|RCV000468717|RCV000388718|RCV000723961|RCV000781948|RCV001332206|RCV002399622; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0800207,MedGen:C3276706|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; M21671428931671428932:g.167142893C>TClinGen:CA239538,UniProtKB:Q15858#VAR_064603C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1554C>T (p.Val518=)6335SCN9AConflicting interpretations of pathogenicityrs201054032RCV000647823|RCV001086408|RCV002397279; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671428941671428942:g.167142894G>AClinGen:CA1944494C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1552G>T (p.Val518Phe)6335SCN9AUncertain significancers201905993RCV001040064; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671428961671428962:g.167142896C>A-
NM_001365536.1(SCN9A):c.1549G>A (p.Gly517Ser)6335SCN9AUncertain significancers200333606RCV000547767; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167142899167142899NC_000002.11:g.167142899C>TClinGen:CA59800619C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1516G>A (p.Glu506Lys)6335SCN9AUncertain significance-1RCV001917265; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142932167142932167142932-
NM_001365536.1(SCN9A):c.1515A>G (p.Ser505=)6335SCN9ALikely benign-1RCV001396995; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142933167142933167142933-
NM_001365536.1(SCN9A):c.1512A>G (p.Glu504=)6335SCN9ALikely benign-1RCV002113847; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142936167142936167142936-
NM_001365536.1(SCN9A):c.1504A>G (p.Lys502Glu)6335SCN9AUncertain significancers1553490349RCV000796177; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671429441671429442:g.167142944T>C-
NM_001365536.1(SCN9A):c.1503G>A (p.Ser501=)6335SCN9ALikely benignrs766468627RCV000863545; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671429451671429452:g.167142945C>T-
NM_001365536.1(SCN9A):c.1502C>A (p.Ser501Ter)6335SCN9APathogenic-1RCV001989985; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142946167142946167142946-
NM_001365536.1(SCN9A):c.1497del (p.Lys499fs)6335SCN9APathogenic-1RCV001866387; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142951167142951167142950-
NM_001365536.1(SCN9A):c.1488T>C (p.Asp496=)6335SCN9ALikely benign-1RCV002199022; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142960167142960167142960-
NM_001365536.1(SCN9A):c.1483G>C (p.Gly495Arg)6335SCN9AUncertain significancers1442081933RCV001210334; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671429651671429652:g.167142965C>G-
NM_001365536.1(SCN9A):c.1480A>G (p.Lys494Glu)6335SCN9AUncertain significancers1553490377RCV000702986; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142968167142968NC_000002.11:g.167142968T>C-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1470T>A (p.Ser490Arg)6335SCN9AUncertain significance-1RCV001887764; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142978167142978167142978-
NM_001365536.1(SCN9A):c.1466C>T (p.Ser489Phe)6335SCN9AUncertain significance-1RCV002297808; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142982167142982167142982-
NM_001365536.1(SCN9A):c.1465T>C (p.Ser489Pro)6335SCN9AUncertain significance-1RCV001931437; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142983167142983167142983-
NM_001365536.1(SCN9A):c.1462C>G (p.Leu488Val)6335SCN9AUncertain significance-1RCV001877038; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167142986167142986167142986-
NM_001365536.1(SCN9A):c.1454A>G (p.Gln485Arg)6335SCN9AUncertain significancers776109731RCV000526800; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671429941671429942:g.167142994T>CClinGen:CA1944506C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1449G>C (p.Lys483Asn)6335SCN9AUncertain significancers201550725RCV001068647; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671429991671429992:g.167142999C>G-
NM_001365536.1(SCN9A):c.1445A>G (p.Lys482Arg)6335SCN9AUncertain significance-1RCV001985949; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143003167143003167143003-
NM_001365536.1(SCN9A):c.1443G>A (p.Lys481=)6335SCN9ALikely benignrs1574868048RCV000927209|RCV001473752; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671430051671430052:g.167143005C>T-
NM_001365536.1(SCN9A):c.1434C>A (p.Asn478Lys)6335SCN9AUncertain significancers1697752108RCV001064861; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671430141671430142:g.167143014G>T-
NM_001365536.1(SCN9A):c.1430G>C (p.Arg477Thr)6335SCN9AUncertain significance-1RCV001368661; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143018167143018167143018-
NM_001365536.1(SCN9A):c.1415G>C (p.Ser472Thr)6335SCN9AUncertain significance-1RCV001372932; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143033167143033167143033-
NM_001365536.1(SCN9A):c.1407C>A (p.Ser469Arg)6335SCN9AUncertain significance-1RCV001942597|RCV002290783; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167143041167143041167143041-
NM_001365536.1(SCN9A):c.1405A>T (p.Ser469Cys)6335SCN9AUncertain significancers1574868187RCV000798570; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671430431671430432:g.167143043T>A-
NM_001365536.1(SCN9A):c.1403T>C (p.Leu468Pro)6335SCN9AUncertain significancers762881019RCV001226446; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671430451671430452:g.167143045A>G-
NM_001365536.1(SCN9A):c.1398C>A (p.Ser466=)6335SCN9ALikely benign-1RCV001473245; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143050167143050167143050-
NM_001365536.1(SCN9A):c.1376C>T (p.Ser459Leu)6335SCN9AUncertain significancers121908908RCV001319113; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143072167143072167143072-
NM_001365536.1(SCN9A):c.1372C>T (p.Leu458Phe)6335SCN9AUncertain significance-1RCV001883926; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143076167143076167143076-
NM_001365536.1(SCN9A):c.1365T>C (p.Ile455=)6335SCN9ALikely benign-1RCV001501941; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143083167143083167143083-
NM_001365536.1(SCN9A):c.1361G>T (p.Arg454Ile)6335SCN9AUncertain significancers199825426RCV001208995; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671430871671430872:g.167143087C>A-
NM_001365536.1(SCN9A):c.1361G>A (p.Arg454Lys)6335SCN9AUncertain significancers199825426RCV001232724|RCV002379886; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671430871671430872:g.167143087C>T-
NM_001365536.1(SCN9A):c.1353G>A (p.Arg451=)6335SCN9ALikely benign-1RCV001431625; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143095167143095167143095-
NM_001365536.1(SCN9A):c.1349T>C (p.Ile450Thr)6335SCN9AUncertain significancers1258991294RCV000560730|RCV002384197; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671430991671430992:g.167143099A>GClinGen:CA349084941C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1348A>G (p.Ile450Val)6335SCN9AUncertain significancers200823610RCV000647745|RCV002386085; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167143100167143100NC_000002.11:g.167143100T>CClinGen:CA1944522C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1345A>G (p.Ser449Gly)6335SCN9AUncertain significance-1RCV002028729; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143103167143103167143103-
NM_001365536.1(SCN9A):c.1342A>G (p.Thr448Ala)6335SCN9AUncertain significancers1697758630RCV001066001; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671431061671431062:g.167143106T>C-
NM_001365536.1(SCN9A):c.1332G>A (p.Ala444=)6335SCN9ALikely benign-1RCV002164309; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143116167143116167143116-
NM_001365536.1(SCN9A):c.1331C>T (p.Ala444Val)6335SCN9AUncertain significancers143430080RCV000535866|RCV001770462|RCV002384196; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671431171671431172:g.167143117G>AClinGen:CA1944528C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)6335SCN9AConflicting interpretations of pathogenicityrs200065104RCV000242152|RCV000724887|RCV001084151|RCV002381568; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671431221671431222:g.167143122C>TClinGen:CA239541C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1320_1325dup (p.Ala444_Ala445dup)6335SCN9AUncertain significancers1559013008RCV001050480; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671431221671431232:g.167143122_167143123insGCTGCA-
NM_001365536.1(SCN9A):c.1325C>T (p.Ala442Val)6335SCN9AUncertain significancers773066209RCV000647747; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167143123167143123NC_000002.11:g.167143123G>AClinGen:CA1944529C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1324G>A (p.Ala442Thr)6335SCN9AUncertain significancers770771659RCV001315853; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143124167143124167143124-
NM_001365536.1(SCN9A):c.1318A>G (p.Ile440Val)6335SCN9AUncertain significance-1RCV001881732; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143130167143130167143130-
NM_001365536.1(SCN9A):c.1315-16G>A6335SCN9ALikely benign-1RCV002099077; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167143149167143149167143149-
NM_001365536.1(SCN9A):c.1314+15T>G6335SCN9ALikely benign-1RCV002084502; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167144932167144932167144932-
NM_001365536.1(SCN9A):c.1314+7T>C6335SCN9AConflicting interpretations of pathogenicityrs371482199RCV000173769|RCV002054057; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671449401671449402:g.167144940A>GClinGen:CA239228CN169374 not specified;
NM_001365536.1(SCN9A):c.1314+5T>C6335SCN9AUncertain significancers770452089RCV001234559; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671449421671449422:g.167144942A>G-
NM_001365536.1(SCN9A):c.1314+3A>T6335SCN9AUncertain significancers774219473RCV000557413|RCV001770461; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221671449441671449442:g.167144944T>AClinGen:CA1944549C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1314+1G>T6335SCN9AConflicting interpretations of pathogenicityrs1295192882RCV000700428|RCV000778571; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671449461671449462:g.167144946C>A-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1309G>A (p.Ala437Thr)6335SCN9AUncertain significance-1RCV001586587|RCV001866129; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167144952167144952167144952-
NM_001365536.1(SCN9A):c.1304A>C (p.Glu435Ala)6335SCN9AUncertain significancers201396897RCV000499005|RCV000705692; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671449571671449572:g.167144957T>GClinGen:CA1944552C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1303G>A (p.Glu435Lys)6335SCN9AUncertain significance-1RCV001509169|RCV001859354; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167144958167144958167144958-
NM_001365536.1(SCN9A):c.1286G>A (p.Arg429His)6335SCN9AUncertain significancers367556839RCV000591420|RCV000706997|RCV002384296; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C095012321671449751671449752:g.167144975C>TClinGen:CA1944555C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1285C>A (p.Arg429Ser)6335SCN9AUncertain significancers763256222RCV001319910; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167144976167144976167144976-
NM_001365536.1(SCN9A):c.1285C>G (p.Arg429Gly)6335SCN9AUncertain significance-1RCV001919865; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167144976167144976167144976-
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)6335SCN9AUncertain significancers192406412RCV000221632|RCV000692363|RCV000765528|RCV001336519|RCV002381753; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671449811671449812:g.167144981A>GClinGen:CA1944557C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)6335SCN9AConflicting interpretations of pathogenicityrs200415928RCV000463481|RCV000768079|RCV001755714|RCV002446880; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or2167144984167144984NC_000002.11:g.167144984A>TClinGen:CA1944559C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1277T>C (p.Met426Thr)6335SCN9AUncertain significancers200415928RCV001225496; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671449841671449842:g.167144984A>G-
NM_001365536.1(SCN9A):c.1275G>T (p.Gln425His)6335SCN9AUncertain significancers781606441RCV000806065; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671449861671449862:g.167144986C>A-
NM_001365536.1(SCN9A):c.1273C>A (p.Gln425Lys)6335SCN9AUncertain significancers1553491073RCV000531983; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671449881671449882:g.167144988G>TClinGen:CA349085730C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1261T>G (p.Leu421Val)6335SCN9AUncertain significance-1RCV002002914; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145000167145000167145000-
NM_001365536.1(SCN9A):c.1261T>A (p.Leu421Ile)6335SCN9AUncertain significance-1RCV001993915; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145000167145000167145000-
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr)6335SCN9AUncertain significancers200689195RCV000173767|RCV000702765|RCV000765529|RCV002372083; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|6 conditions|MeSH:D030342,MedGen:C095012321671450231671450232:g.167145023A>GClinGen:CA239222C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1227C>A (p.Asn409Lys)6335SCN9AUncertain significance-1RCV001924424; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145034167145034167145034-
NM_001365536.1(SCN9A):c.1204G>A (p.Ala402Thr)6335SCN9AUncertain significancers768527780RCV000553821; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167145057167145057NC_000002.11:g.167145057C>TClinGen:CA1944569C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1203T>C (p.Val401=)6335SCN9ALikely benign-1RCV002197413; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145058167145058167145058-
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)6335SCN9APathogenic/Likely pathogenicrs1553491169RCV000647787|RCV001171363|RCV001311225; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN5172022167145063167145063NC_000002.11:g.167145063C>TClinGen:CA349085902C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1190T>A (p.Ile397Asn)6335SCN9AUncertain significancers1559015087RCV000703628; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145071167145071NC_000002.11:g.167145071A>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1185C>T (p.Asn395=)6335SCN9ALikely benignrs80356471RCV000917631; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671450761671450762:g.167145076G>A-
NM_001365536.1(SCN9A):c.1184A>T (p.Asn395Ile)6335SCN9AUncertain significancers1697894526RCV001225079; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671450771671450772:g.167145077T>A-
NM_001365536.1(SCN9A):c.1180A>C (p.Ile394Leu)6335SCN9AUncertain significance-1RCV002002090; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145081167145081167145081-
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=)6335SCN9AConflicting interpretations of pathogenicityrs184773311RCV000313984|RCV000725745|RCV001086204|RCV002328779; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671450841671450842:g.167145084G>AClinGen:CA1944570C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1168T>C (p.Ser390Pro)6335SCN9AUncertain significance-1RCV001935977; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145093167145093167145093-
NM_001365536.1(SCN9A):c.1167C>A (p.Gly389=)6335SCN9ALikely benign-1RCV001421421; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145094167145094167145094-
NM_001365536.1(SCN9A):c.1167C>T (p.Gly389=)6335SCN9ALikely benign-1RCV002093547; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145094167145094167145094-
NM_001365536.1(SCN9A):c.1165G>A (p.Gly389Ser)6335SCN9AUncertain significancers1559015138RCV000707696; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145096167145096NC_000002.11:g.167145096C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1161C>T (p.Phe387=)6335SCN9ALikely benign-1RCV001470510; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145100167145100167145100-
NM_001365536.1(SCN9A):c.1158T>A (p.Ile386=)6335SCN9ALikely benignrs200963646RCV000866809; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671451031671451032:g.167145103A>T-
NM_001365536.1(SCN9A):c.1154T>G (p.Val385Gly)6335SCN9AUncertain significancers202159091RCV000805496|RCV001796238|RCV002360974; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN517202|MeSH:D030342,MedGen:C095012321671451071671451072:g.167145107A>C-
NM_001365536.1(SCN9A):c.1150G>A (p.Val384Ile)6335SCN9AUncertain significancers200973534RCV000516329|RCV000819836; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145111167145111NC_000002.11:g.167145111C>TClinGen:CA1944576CN169374 not specified;
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=)6335SCN9AConflicting interpretations of pathogenicityrs794726989RCV000173768|RCV001087581|RCV002453607; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671451121671451122:g.167145112G>AClinGen:CA239225CN169374 not specified;
NM_001365536.1(SCN9A):c.1146T>C (p.Phe382=)6335SCN9ALikely benignrs1333471270RCV000934240; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671451151671451152:g.167145115A>G-
NM_001365536.1(SCN9A):c.1140CTT[1] (p.Phe382del)6335SCN9AUncertain significancers1178892201RCV001343729; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145116167145118167145115-
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val)6335SCN9AConflicting interpretations of pathogenicityrs544004654RCV000647788|RCV000714798; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145126167145126NC_000002.11:g.167145126T>CClinGen:CA1944578C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs)6335SCN9APathogenicrs1574873149RCV000806666; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671451321671451322:g.167145132_167145132del-
NM_001365536.1(SCN9A):c.1124G>C (p.Gly375Ala)6335SCN9AUncertain significancers1574873162RCV000819758; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671451371671451372:g.167145137C>G-
NM_001365536.1(SCN9A):c.1117G>A (p.Ala373Thr)6335SCN9AUncertain significance-1RCV002012064; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145144167145144167145144-
NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His)6335SCN9AUncertain significancers201071819RCV000757743|RCV000801396|RCV002436054; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MeSH:D030342,MedGen:C09501232167145146167145146NC_000002.11:g.167145146C>TClinGen:CA1944582CN169374 not specified;
NM_001365536.1(SCN9A):c.1113G>A (p.Leu371=)6335SCN9ALikely benignrs1260914439RCV000934874|RCV001454252; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671451481671451482:g.167145148C>T-
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)6335SCN9AConflicting interpretations of pathogenicityrs202002028RCV000835459|RCV001082565|RCV001133250|RCV001133249|RCV001133251|RCV001700212|RCV002431670; NMedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,O21671451511671451512:g.167145151C>TClinGen:CA1944583C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met)6335SCN9AConflicting interpretations of pathogenicityrs200391162RCV000713161|RCV001082451|RCV002453606; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671451521671451522:g.167145152G>AClinGen:CA239219CN169374 not specified;
NM_001365536.1(SCN9A):c.1108-5C>T6335SCN9ALikely benignrs201496520RCV000938407|RCV001531327; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN51720221671451581671451582:g.167145158G>A-
NM_001365536.1(SCN9A):c.1108-10T>C6335SCN9ALikely benign-1RCV002158502; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167145163167145163167145163-
NM_001365536.1(SCN9A):c.1107+20T>G6335SCN9ALikely benign-1RCV002116939; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149721167149721167149721-
NM_001365536.1(SCN9A):c.1107+7A>G6335SCN9ALikely benignrs199623041RCV000614417|RCV001415246; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671497341671497342:g.167149734T>CClinGen:CA1944597CN169374 not specified;
NM_001365536.1(SCN9A):c.1105C>G (p.Gln369Glu)6335SCN9AUncertain significance-1RCV001996501; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149743167149743167149743-
NM_001365536.1(SCN9A):c.1101C>T (p.Tyr367=)6335SCN9ALikely benign-1RCV001450505; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149747167149747167149747-
NM_001365536.1(SCN9A):c.1099T>C (p.Tyr367His)6335SCN9AUncertain significancers200457046RCV000235450|RCV000684991|RCV002450726; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C095012321671497491671497492:g.167149749A>GClinGen:CA1944600C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1096C>T (p.Leu366Phe)6335SCN9AUncertain significancers1698155295RCV001240782; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671497521671497522:g.167149752G>A-
NM_001365536.1(SCN9A):c.1085A>G (p.Tyr362Cys)6335SCN9AUncertain significancers1361635396RCV001347793; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149763167149763167149763-
NM_001365536.1(SCN9A):c.1083T>C (p.Asp361=)6335SCN9ALikely benign-1RCV002082399; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149765167149765167149765-
NM_001365536.1(SCN9A):c.1072A>G (p.Met358Val)6335SCN9AUncertain significancers1574883049RCV000792590; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671497761671497762:g.167149776T>C-
NM_001365536.1(SCN9A):c.1068G>A (p.Arg356=)6335SCN9ALikely benign-1RCV002179232; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149780167149780167149780-
NM_001365536.1(SCN9A):c.1055T>C (p.Leu352Ser)6335SCN9AUncertain significancers182188165RCV001317091; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149793167149793167149793-
NM_001365536.1(SCN9A):c.1053C>T (p.Phe351=)6335SCN9ALikely benign-1RCV001454170; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149795167149795167149795-
NM_001365536.1(SCN9A):c.1052T>C (p.Phe351Ser)6335SCN9AUncertain significance-1RCV002304744; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149796167149796167149796-
NM_001365536.1(SCN9A):c.1034A>G (p.Asp345Gly)6335SCN9AUncertain significancers1553492443RCV000531779; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:9702167149814167149814NC_000002.11:g.167149814T>CClinGen:CA349089105C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1033G>C (p.Asp345His)6335SCN9AUncertain significancers1553492445RCV000553377; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671498151671498152:g.167149815C>GClinGen:CA349089110C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1028G>A (p.Ser343Asn)6335SCN9AUncertain significance-1RCV001895398; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149820167149820167149820-
NM_001365536.1(SCN9A):c.1026_1027delinsTT (p.Ser343Cys)6335SCN9AUncertain significancers1698159182RCV001317899; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149821167149822167149821-
NM_001365536.1(SCN9A):c.1026G>A (p.Thr342=)6335SCN9ALikely benignrs146026200RCV000869414; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671498221671498222:g.167149822C>T-
NM_001365536.1(SCN9A):c.1025C>T (p.Thr342Met)6335SCN9AUncertain significancers772249726RCV001063443; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671498231671498232:g.167149823G>A-
NM_001365536.1(SCN9A):c.1022A>G (p.Tyr341Cys)6335SCN9AUncertain significancers374280444RCV000235703|RCV000538607; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671498261671498262:g.167149826T>CClinGen:CA10584168C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1011T>C (p.Pro337=)6335SCN9ALikely benign-1RCV002172066; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149837167149837167149837-
NM_001365536.1(SCN9A):c.1008C>T (p.Asn336=)6335SCN9ALikely benign-1RCV001933624; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149840167149840167149840-
NM_001365536.1(SCN9A):c.1007A>C (p.Asn336Thr)6335SCN9AUncertain significancers1574883280RCV000820729; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671498411671498412:g.167149841T>G-
NM_001365536.1(SCN9A):c.1007A>T (p.Asn336Ile)6335SCN9AUncertain significance-1RCV002009520; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149841167149841167149841-
NM_001365536.1(SCN9A):c.1000G>A (p.Gly334Ser)6335SCN9AUncertain significance-1RCV001369252; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149848167149848167149848-
NM_001365536.1(SCN9A):c.990T>C (p.Cys330=)6335SCN9ALikely benignrs1384436013RCV000503926|RCV001505317|RCV002383972; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MeSH:D030342,MedGen:C09501232167149858167149858NC_000002.11:g.167149858A>GClinGen:CA429905966CN169374 not specified;
NM_001365536.1(SCN9A):c.981G>A (p.Gly327=)6335SCN9ALikely benign-1RCV001416106; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149867167149867167149867-
NM_001365536.1(SCN9A):c.978G>A (p.Glu326=)6335SCN9ALikely benign-1RCV001506183; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149870167149870167149870-
NM_001365536.1(SCN9A):c.966-8G>A6335SCN9ALikely benignrs199942413RCV000607250|RCV000647804|RCV001701101; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970|MedGen:CN51720221671498901671498902:g.167149890C>TClinGen:CA1944616C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.966-8G>C6335SCN9ALikely benign-1RCV001399571; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149890167149890167149890-
NM_001365536.1(SCN9A):c.966-8G>T6335SCN9ALikely benign-1RCV001468026; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149890167149890167149890-
NM_001365536.1(SCN9A):c.966-9C>G6335SCN9AUncertain significance-1RCV001363479; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149891167149891167149891-
NM_001365536.1(SCN9A):c.966-10T>A6335SCN9AUncertain significancers1559019772RCV000701858; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167149892167149892NC_000002.11:g.167149892A>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.965+18T>C6335SCN9ALikely benignrs1553492740RCV000614360|RCV002062994; NMedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671510911671510912:g.167151091A>GClinGen:CA429906098CN169374 not specified;
NM_001365536.1(SCN9A):c.965+14G>T6335SCN9ALikely benign-1RCV002206630; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167151095167151095167151095-
NM_001365536.1(SCN9A):c.965+10A>G6335SCN9ALikely benignrs202185010RCV000939813|RCV001505942; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671510991671510992:g.167151099T>C-
NM_001365536.1(SCN9A):c.965+1G>T6335SCN9ALikely pathogenicrs1698219355RCV001236629; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671511081671511082:g.167151108C>A-
NM_001365536.1(SCN9A):c.957A>G (p.Thr319=)6335SCN9ALikely benignrs1574885699RCV000934088|RCV001459580; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671511171671511172:g.167151117T>C-
NM_001365536.1(SCN9A):c.950T>C (p.Phe317Ser)6335SCN9AUncertain significancers1042253518RCV001241728; NMONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:97021671511241671511242:g.167151124A>G-
NM_001365536.1(SCN9A):c.949T>G (p.Phe317Val)6335SCN9AUncertain significance-1RCV001359175; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167151125167151125167151125-
NM_001365536.1(SCN9A):c.945T>C (p.Cys315=)6335SCN9ALikely benign-1RCV002193462; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167151129167151129167151129-
NM_001365536.1(SCN9A):c.944G>A (p.Cys315Tyr)6335SCN9AUncertain significancers1559020764RCV000686501; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:3638721671511301671511302:g.167151130C>T-C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;