SCN1A — 2683 ClinVar variants

All ClinVar germline SCN1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 826 flagged for review →

763 Pathogenic · 123 Pathogenic/Likely pathogenic · 325 Likely pathogenic · 184 Conflicting · 78 Benign · 26 Benign/Likely benign · 400 Likely benign · 784 Uncertain significance

Full SCN1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 826

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 20

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SCN1A p.Ala342Ser Pathogenic/Likely pathogenic Multiple submitters
Dravet syndrome
SCN1A p.Tyr790Phe Pathogenic/Likely pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Ala24Thr Pathogenic Single submitter
Dravet syndrome
SCN1A p.Asn338Ser Pathogenic Single submitter
Dravet syndrome
SCN1A p.Gln459Arg Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Glu1623Gln Likely pathogenic Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Glu289Val Pathogenic Single submitter
early-infantile DEE
SCN1A p.Glu616Asp Pathogenic Single submitter
Epileptic encephalopathy
SCN1A p.Gly329Asp Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Gly329Ser Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Gly361Ser Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.His324Asn Pathogenic Single submitter
early-infantile DEE
SCN1A p.Ile99Val Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Met350Val Pathogenic Single submitter
Dravet syndrome
SCN1A p.Pro657Leu Pathogenic Single submitter
Dravet syndrome
SCN1A p.Ser474Arg Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Ser626Gly Pathogenic Single submitter
Dravet syndrome
SCN1A p.Thr105Ser Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Tyr545His Likely pathogenic Single submitter
SCN1A p.Val5Ala Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 101

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SCN1A p.Ala1938Val Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ala395Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Ala420Asp Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Ala432Pro Conflicting Single submitter
early-infantile DEE
SCN1A p.Ala486Gly Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Ala637Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg118Lys Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg27Thr Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Arg28Leu Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg535Cys Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg535His Conflicting Single submitter
Dravet syndrome
SCN1A p.Arg542Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg580Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg613Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg630Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg693Lys Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg712Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg862Gln Conflicting Single submitter
SCN1A-related disorder
SCN1A p.Asn115Ser Conflicting Single submitter
early-infantile DEE
SCN1A p.Asn141Lys Conflicting Single submitter
early-infantile DEE
SCN1A p.Asn211Ser Conflicting Single submitter
early-infantile DEE
SCN1A p.Asn211Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Asp249Gly Conflicting Single submitter
early-infantile DEE
SCN1A p.Asp40Asn Conflicting Single submitter
early-infantile DEE
SCN1A p.Asp40Gly Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Asp516Asn Conflicting Single submitter
early-infantile DEE
SCN1A p.Asp81Gly Conflicting Single submitter
Dravet syndrome
SCN1A p.Asp998Gly Conflicting Single submitter
early-infantile DEE
SCN1A p.Cys927Phe Conflicting Single submitter
early-infantile DEE
SCN1A p.Gln267Pro Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Gln709Glu Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Gln928His Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu1238Asp Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu158Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu293Asp Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu307Lys Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu427Lys Conflicting Single submitter
early-infantile DEE
SCN1A p.Gly343Ser Conflicting Single submitter
early-infantile DEE
SCN1A p.Gly361Asp Conflicting Single submitter
early-infantile DEE
SCN1A p.Gly615Arg Conflicting Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Gly682Val Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Gly837Ser Conflicting Single submitter
early-infantile DEE
SCN1A p.His1020Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.His127Leu Conflicting Single submitter
Dravet syndrome
SCN1A p.His127Tyr Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ile236Thr Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Ile292Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Ile292Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Ile296Val Conflicting Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Ile305Thr Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Ile68Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Ile747Thr Conflicting Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Ile839Thr Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ile883Thr Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ile953Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Leu139Trp Conflicting Single submitter
early-infantile DEE
SCN1A p.Leu186Pro Conflicting Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Leu221Val Conflicting Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Leu224Phe Conflicting Single submitter
SCN1A p.Leu287Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Leu334Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Leu387Phe Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Leu392Ser Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Leu842Phe Conflicting Single submitter
early-infantile DEE
SCN1A p.Leu992Pro Conflicting Single submitter
Dravet syndrome
SCN1A p.Lys547Asn Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Lys88Asn Conflicting Single submitter
early-infantile DEE
SCN1A p.Met1559Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Met1894Thr Conflicting Single submitter
early-infantile DEE
SCN1A p.Met251Val Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Met400Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Met631Val Conflicting Single submitter
intellectual disability
SCN1A p.Met785Leu Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Met787Thr Conflicting Single submitter
SCN1A p.Met960Val Conflicting Single submitter
developmental and epileptic encephalopathy
SCN1A p.Met976Leu Conflicting Single submitter
early-infantile DEE
SCN1A p.Phe1466Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Phe269Leu Conflicting Single submitter
early-infantile DEE
SCN1A p.Phe995Leu Conflicting Single submitter
Dravet syndrome
SCN1A p.Ser1471Cys Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Ser213Leu Conflicting Single submitter
early-infantile DEE
SCN1A p.Ser364Ile Conflicting Single submitter
SCN1A p.Ser364Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 6A
SCN1A p.Ser528Cys Conflicting Single submitter
early-infantile DEE
SCN1A p.Ser551Phe Conflicting Single submitter
early-infantile DEE
SCN1A p.Ser573Arg Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ser993Gly Conflicting Single submitter
early-infantile DEE
SCN1A p.Thr199Ile Conflicting Single submitter
early-infantile DEE
SCN1A p.Thr204Ile Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Thr303Ser Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Thr661Ile Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Trp370Cys Conflicting Single submitter
early-infantile DEE
SCN1A p.Tyr1025Phe Conflicting Single submitter
early-infantile DEE
SCN1A p.Tyr1460Cys Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Tyr1599Asp Conflicting Single submitter
early-infantile DEE
SCN1A p.Val1016Met Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Val1297Ile Conflicting Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Val699Ile Conflicting Single submitter
early-infantile DEE
SCN1A p.Val906Met Conflicting Single submitter
early-infantile DEE
SCN1A p.Val947Met Conflicting Single submitter
early-infantile DEE
SCN1A p.Val971Ile Conflicting Single submitter
developmental and epileptic encephalopathy 6B

Predictors lean, ClinVar uncertain 466

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 466

SCN1A p.Leu981Ile Uncertain significance Expert panel
generalized epilepsy with febrile seizures plus
SCN1A p.Ala425Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala476Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg1384Lys Uncertain significance Multiple submitters
Dravet syndrome
SCN1A p.Arg187Gln Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg187Trp Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg1928His Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg356Gly Uncertain significance Multiple submitters
Clinodactyly
SCN1A p.Arg560His Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg571Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn156Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn306His Uncertain significance Multiple submitters
SCN1A p.Asn306Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn47Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Asn541Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn569Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn86Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn892Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn999Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp313His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Asp320Tyr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp332Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp527Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp606Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp749Glu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp823Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp836Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Cys734Tyr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Cys750Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Cys777Tyr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gln381Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gln454Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu181Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu288Gln Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu347Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu438Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu456Gln Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gly1470Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy
SCN1A p.Gly232Asp Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gly913Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.His1020Asp Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.His1217Arg Uncertain significance Multiple submitters
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.His795Gln Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile1955Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile1961Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile264Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile305Lys Uncertain significance Multiple submitters
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ile407Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile418Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile820Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Leu409Ser Uncertain significance Multiple submitters
SCN1A p.Leu479Pro Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Leu556Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Leu80Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Leu864Met Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys234Glu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys33Glu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys740Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met147Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met350Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Met350Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met72Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met766Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met973Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Phe185Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Phe635Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Phe835Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Phe867Leu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro11His Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro151Leu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro189Ala Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro473His Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro566Ser Uncertain significance Multiple submitters
SCN1A p.Pro669Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Pro69Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro735Ala Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Pro791Gln Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser1858Ile Uncertain significance Multiple submitters
Dravet syndrome
SCN1A p.Ser525Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser623Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser628Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser915Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr1003Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy 6B
SCN1A p.Thr140Ala Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr367Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr808Pro Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr894Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr89Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Trp192Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Tyr545Asp Uncertain significance Multiple submitters
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Tyr753His Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Tyr825Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val143Met Uncertain significance Multiple submitters
SCN1A p.Val203Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val229Ala Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val352Met Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val654Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Val724Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Val765Ala Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val802Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala1015Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala107Val Uncertain significance Single submitter
SCN1A p.Ala2006Thr Uncertain significance Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ala214Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala24Pro Uncertain significance Single submitter
SCN1A p.Ala285Ser Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala285Val Uncertain significance Single submitter
SCN1A p.Ala354Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy
SCN1A p.Ala461Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala466Pro Uncertain significance Single submitter
SCN1A p.Ala466Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala633Thr Uncertain significance Single submitter
SCN1A p.Ala633Val Uncertain significance Single submitter
Dravet syndrome
SCN1A p.Ala713Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala717Asp Uncertain significance Single submitter
SCN1A p.Ala813Glu Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala821Val Uncertain significance Single submitter
SCN1A p.Ala870Glu Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala870Pro Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala870Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala870Val Uncertain significance Single submitter
SCN1A-related disorder
SCN1A p.Ala924Val Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala963Val Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg1018Lys Uncertain significance Single submitter
SCN1A p.Arg1642Thr Uncertain significance Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Arg19Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg216Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg219Ser Uncertain significance Single submitter
SCN1A p.Arg222Gln Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg222Gly Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg274Thr Uncertain significance Single submitter
SCN1A-related disorder
SCN1A p.Arg28Gly Uncertain significance Single submitter
SCN1A p.Arg471Gly Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg498Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg500Pro Uncertain significance Single submitter
SCN1A-related disorder
SCN1A p.Arg504Ile Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg504Thr Uncertain significance Single submitter
SCN1A p.Arg630Pro Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg690Gly Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg731Gly Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn1007Asp Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn1010Lys Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Asn115Ile Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Asn275Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn338Tyr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn601Asp Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn601Tyr Uncertain significance Single submitter
SCN1A p.Asn619Ser Uncertain significance Single submitter
SCN1A p.Asn681Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn762Tyr Uncertain significance Single submitter

Predictors split 239

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 239

SCN1A p.Arg28His Likely benign Expert panel
generalized epilepsy with febrile seizures plus
SCN1A p.Arg560Cys Likely benign Expert panel
generalized epilepsy with febrile seizures plus
SCN1A p.Ala23Glu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala23Val Benign/Likely benign Multiple submitters
early-infantile DEE
SCN1A p.Ala24Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala813Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala98Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg274Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg322Gly Uncertain significance Multiple submitters
SCN1A p.Arg580Gly Uncertain significance Multiple submitters
SCN1A p.Arg604Cys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg604His Benign/Likely benign Multiple submitters
Inborn genetic diseases
SCN1A p.Arg617Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Arg617Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn1476Lys Pathogenic Multiple submitters
Dravet syndrome
SCN1A p.Asn301Asp Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asn743Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Asn851Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp382Glu Pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Asp45Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp606Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Asp794Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Cys136Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Cys142Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Gln829Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gln829Leu Uncertain significance Multiple submitters
SCN1A-related disorder
SCN1A p.Glu46Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu496Gly Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu729Lys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Glu788Lys Pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Gly343Arg Pathogenic/Likely pathogenic Multiple submitters
SCN1A-related disorder
SCN1A p.Gly585Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Gly656Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile122Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile236Val Likely pathogenic Multiple submitters
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)
SCN1A p.Ile29Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile29Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Ile401Val Uncertain significance Multiple submitters
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Ile448Thr Uncertain significance Multiple submitters
SCN1A-related disorder
SCN1A p.Ile559Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Ile719Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ile923Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Leu704Pro Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys495Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys640Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Lys756Glu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met270Val Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Met701Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Phe745Cys Uncertain significance Multiple submitters
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Pro116Leu Uncertain significance Multiple submitters
Dravet syndrome
SCN1A p.Pro281Leu Pathogenic Multiple submitters
Dravet syndrome
SCN1A p.Pro37His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Pro82Ser Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser493Arg Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser523Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SCN1A p.Ser525Pro Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser565Leu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser586Phe Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser607Thr Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ser872Tyr Pathogenic/Likely pathogenic Multiple submitters
Dravet syndrome
SCN1A p.Thr105Asn Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Thr162Ile Pathogenic/Likely pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Thr184Ser Uncertain significance Multiple submitters
Dravet syndrome
SCN1A p.Thr684Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Trp280Arg Pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Tyr317His Pathogenic Multiple submitters
early-infantile DEE
SCN1A p.Tyr826Cys Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val126Ile Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val671Leu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Val73Leu Uncertain significance Multiple submitters
early-infantile DEE
SCN1A p.Ala1001Val Uncertain significance Single submitter
SCN1A p.Ala1015Val Conflicting Single submitter
early-infantile DEE
SCN1A p.Ala107Ser Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala30Gly Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Ala34Gly Uncertain significance Single submitter
SCN1A p.Ala34Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala442Gly Uncertain significance Single submitter
SCN1A p.Ala591Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ala717Val Uncertain significance Single submitter
SCN1A p.Arg19Gly Uncertain significance Single submitter
SCN1A p.Arg28Cys Conflicting Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Arg504Ser Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg560Gly Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg567Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg567Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy 6B
SCN1A p.Arg568Gln Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg571Thr Uncertain significance Single submitter
SCN1A p.Arg604Ser Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg605Thr Conflicting Single submitter
Inborn genetic diseases
SCN1A p.Arg618Cys Conflicting Single submitter
early-infantile DEE
SCN1A p.Arg618Ser Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Arg731Met Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn1487Ser Uncertain significance Single submitter
Dravet syndrome
SCN1A p.Asn1509His Likely pathogenic Single submitter
Dravet syndrome
SCN1A p.Asn275Thr Likely pathogenic Single submitter
SCN1A-related disorder
SCN1A p.Asn359Ser Conflicting Single submitter
early-infantile DEE
SCN1A p.Asn47Tyr Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Asn722His Uncertain significance Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Asn762Asp Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn86His Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asn985Lys Likely pathogenic Single submitter
SCN1A p.Asp1740Asn Conflicting Single submitter
Autosomal dominant epilepsy
SCN1A p.Asp1742Glu Uncertain significance Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Asp249Glu Pathogenic Single submitter
Dravet syndrome
SCN1A p.Asp43Ala Uncertain significance Single submitter
SCN1A p.Asp43His Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asp589Asn Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asp589Val Likely pathogenic Single submitter
SCN1A p.Asp593Glu Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asp646Asn Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asp674His Conflicting Single submitter
developmental and epileptic encephalopathy
SCN1A p.Asp706Val Uncertain significance Single submitter
SCN1A p.Asp794His Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Asp79Glu Likely pathogenic Single submitter
early-infantile DEE
SCN1A p.Asp998Glu Conflicting Single submitter
Dravet syndrome
SCN1A p.Cys647Ser Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Gln446Pro Uncertain significance Single submitter
SCN1A p.Gln455Arg Uncertain significance Single submitter
SCN1A p.Glu1008Asp Uncertain significance Single submitter
SCN1A p.Glu181Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu1971Gly Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu328Lys Uncertain significance Single submitter
SCN1A p.Glu32Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu347Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu443Gln Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu449Gly Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Glu496Lys Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Glu587Lys Uncertain significance Single submitter
SCN1A p.Glu594Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu616Ala Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu686Ala Conflicting Single submitter
early-infantile DEE
SCN1A p.Glu686Gly Uncertain significance Single submitter
SCN1A p.Glu688Lys Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Glu725Asp Uncertain significance Single submitter
SCN1A p.Glu830Asp Uncertain significance Single submitter
SCN1A p.Gly1022Ala Uncertain significance Single submitter
SCN1A p.Gly10Ala Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Gly337Ala Pathogenic Single submitter
early-infantile DEE
SCN1A p.Gly355Asp Pathogenic Single submitter
generalized epilepsy with febrile seizures plus, type 2
SCN1A p.Gly585Ala Likely benign Single submitter
migraine, familial hemiplegic, 3
SCN1A p.Gly585Glu Uncertain significance Single submitter
Inborn genetic diseases
SCN1A p.Gly639Arg Uncertain significance Single submitter
early-infantile DEE
SCN1A p.His127Asp Conflicting Single submitter
early-infantile DEE
SCN1A p.His324Arg Conflicting Single submitter
early-infantile DEE
SCN1A p.His553Gln Uncertain significance Single submitter
early-infantile DEE
SCN1A p.His642Pro Uncertain significance Single submitter
SCN1A p.Ile1498Val Uncertain significance Single submitter
Dravet syndrome
SCN1A p.Ile1602Thr Uncertain significance Single submitter
early-infantile DEE
SCN1A p.Ile173Met Conflicting Single submitter
Seizure
SCN1A p.Ile198Val Uncertain significance Single submitter
early-infantile DEE

All SCN1A variants

Pathogenic 763

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg1639Pro Expert panel Dravet syndrome
p.Arg931His Expert panel Dravet syndrome
c.1028+1G>T Multiple submitters early-infantile DEE
c.1028+2T>C Multiple submitters early-infantile DEE
c.1170+1G>A Multiple submitters early-infantile DEE
c.1170+1G>T Multiple submitters Dravet syndrome
c.1662+1G>A Multiple submitters early-infantile DEE
c.1662+1G>C Multiple submitters early-infantile DEE
c.2176+1G>A Multiple submitters early-infantile DEE
c.2177-1G>C Multiple submitters early-infantile DEE
c.2589+1G>T Multiple submitters early-infantile DEE
c.2589+3A>T Multiple submitters early-infantile DEE
c.2590-2A>G Multiple submitters early-infantile DEE
c.264+5G>C Multiple submitters early-infantile DEE
c.265-1G>A Multiple submitters developmental and epileptic encephalopathy
c.2946+1G>T Multiple submitters early-infantile DEE
c.2947del Multiple submitters Dravet syndrome
c.3705+1G>A Multiple submitters early-infantile DEE
c.383+1A>G Multiple submitters early-infantile DEE
c.3880-2A>G Multiple submitters developmental and epileptic encephalopathy
c.4477-1C>T Multiple submitters generalized epilepsy with febrile seizures plus, type 2
c.4477-2A>G Multiple submitters early-infantile DEE
c.473+1G>A Multiple submitters SCN1A-related disorder
c.474-1G>A Multiple submitters early-infantile DEE
c.4853-1G>C Multiple submitters developmental and epileptic encephalopathy
c.602+1G>A Multiple submitters early-infantile DEE
c.602+1G>C Multiple submitters early-infantile DEE
c.602+1G>T Multiple submitters early-infantile DEE
c.603-1G>A Multiple submitters early-infantile DEE
c.603-2A>G Multiple submitters early-infantile DEE
c.-1731del Multiple submitters Dravet syndrome
p.Ala104Asp Multiple submitters early-infantile DEE
p.Ala1669Thr Multiple submitters developmental and epileptic encephalopathy 6B
p.Ala239Thr Multiple submitters early-infantile DEE
p.Ala905Thr Multiple submitters
p.Arg101Gln Multiple submitters early-infantile DEE
p.Arg1886Ter Multiple submitters early-infantile DEE
p.Arg377Ter Multiple submitters early-infantile DEE
p.Arg498Ter Multiple submitters Seizure
p.Arg504fs Multiple submitters early-infantile DEE
p.Arg542Ter Multiple submitters early-infantile DEE
p.Arg568Ter Multiple submitters early-infantile DEE
p.Arg580Ter Multiple submitters Inborn genetic diseases
p.Arg612Ter Multiple submitters early-infantile DEE
p.Arg613Ter Multiple submitters Autosomal dominant SCN1A-related disorders
p.Arg618fs Multiple submitters early-infantile DEE
p.Arg712Ter Multiple submitters early-infantile DEE
p.Arg859Cys Multiple submitters SCN1A-related disorder
p.Arg859His Multiple submitters early-infantile DEE
p.Arg865Ter Multiple submitters early-infantile DEE
p.Arg946Cys Multiple submitters early-infantile DEE
p.Asn115Lys Multiple submitters Dravet syndrome
p.Asn1414_Phe1415insTer Multiple submitters early-infantile DEE
p.Asn1476Lys Multiple submitters Dravet syndrome ⚠
p.Asn272fs Multiple submitters developmental and epileptic encephalopathy
p.Asn94Ter Multiple submitters early-infantile DEE
p.Asp382Glu Multiple submitters early-infantile DEE ⚠
p.Asp936Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Asp998fs Multiple submitters early-infantile DEE
p.Cys336Tyr Multiple submitters early-infantile DEE
p.Cys345Arg Multiple submitters early-infantile DEE
p.Cys949Tyr Multiple submitters early-infantile DEE
p.Cys959Tyr Multiple submitters Dravet syndrome
p.Cys968Ter Multiple submitters early-infantile DEE
p.Gln1036Ter Multiple submitters early-infantile DEE
p.Gln1166Ter Multiple submitters early-infantile DEE
p.Gln1244Ter Multiple submitters Dravet syndrome
p.Gln1888Ter Multiple submitters early-infantile DEE
p.Gln3Ter Multiple submitters early-infantile DEE
p.Gln429Ter Multiple submitters SCN1A-related disorder
p.Gln450Ter Multiple submitters early-infantile DEE
p.Gln506Ter Multiple submitters early-infantile DEE
p.Gln554= Multiple submitters early-infantile DEE
p.Gln711Ter Multiple submitters Dravet syndrome
p.Glu1147Ter Multiple submitters early-infantile DEE
p.Glu181Ter Multiple submitters early-infantile DEE
p.Glu26Ter Multiple submitters early-infantile DEE
p.Glu496fs Multiple submitters Dravet syndrome
p.Glu725Ter Multiple submitters developmental and epileptic encephalopathy
p.Glu788Lys Multiple submitters early-infantile DEE ⚠
p.Glu951fs Multiple submitters early-infantile DEE
p.Gly396Arg Multiple submitters early-infantile DEE
p.Gly979Arg Multiple submitters early-infantile DEE
p.Gly979Glu Multiple submitters early-infantile DEE
p.Ile227Ser Multiple submitters SCN1A-related disorder
p.Leu1287Pro Multiple submitters early-infantile DEE
p.Leu224Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Leu224Trp Multiple submitters early-infantile DEE
p.Leu373fs Multiple submitters early-infantile DEE
p.Leu897Ser Multiple submitters early-infantile DEE
p.Lys1270Thr Multiple submitters early-infantile DEE
p.Lys1517Ter Multiple submitters Dravet syndrome
p.Lys225Asn Multiple submitters Dravet syndrome
p.Lys452Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Met145Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Met1Thr Multiple submitters early-infantile DEE
p.Met785Val Multiple submitters early-infantile DEE
p.Met934Val Multiple submitters early-infantile DEE
p.Met960Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Phe1661Ser Multiple submitters Dravet syndrome
p.Phe256fs Multiple submitters early-infantile DEE
p.Phe945Leu Multiple submitters early-infantile DEE
p.Pro113Thr Multiple submitters developmental and epileptic encephalopathy
p.Pro281Leu Multiple submitters Dravet syndrome ⚠
p.Pro281Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Pro358Ser Multiple submitters developmental and epileptic encephalopathy, 6A
p.Ser1362Arg Multiple submitters early-infantile DEE
p.Ser316Ter Multiple submitters early-infantile DEE
p.Ser321Ter Multiple submitters Inborn genetic diseases
p.Ser411Leu Multiple submitters early-infantile DEE
p.Ser603fs Multiple submitters Seizure
p.Ser628Ter Multiple submitters Dravet syndrome
p.Ser860Ter Multiple submitters Seizure
p.Thr1300Arg Multiple submitters early-infantile DEE
p.Thr217Lys Multiple submitters early-infantile DEE
p.Thr226Met Multiple submitters SCN1A-related disorder
p.Trp1205Ter Multiple submitters Inborn genetic diseases
p.Trp1219Ter Multiple submitters early-infantile DEE
p.Trp1284fs Multiple submitters Dravet syndrome
p.Trp1408Ter Multiple submitters early-infantile DEE
p.Trp190Arg Multiple submitters early-infantile DEE
p.Trp280Arg Multiple submitters early-infantile DEE ⚠
p.Trp280Ter Multiple submitters migraine, familial hemiplegic, 3
p.Trp738Ter Multiple submitters early-infantile DEE
p.Trp748Ter Multiple submitters early-infantile DEE
p.Trp832Ter Multiple submitters early-infantile DEE
p.Trp932Ter Multiple submitters early-infantile DEE
p.Tyr109fs Multiple submitters
p.Tyr1422Ter Multiple submitters SCN1A-related disorder
p.Tyr1460Ter Multiple submitters early-infantile DEE
p.Tyr1568Ter Multiple submitters Dravet syndrome
p.Tyr317His Multiple submitters early-infantile DEE ⚠
p.Tyr349Cys Multiple submitters early-infantile DEE
p.Tyr388His Multiple submitters early-infantile DEE
p.Tyr83Ter Multiple submitters early-infantile DEE
p.Tyr84Ter Multiple submitters developmental and epileptic encephalopathy
p.Val143fs Multiple submitters developmental and epileptic encephalopathy
p.Val857fs Multiple submitters early-infantile DEE
c.1028+1G>A Single submitter Dravet syndrome
c.1029-1G>C Single submitter
c.1170+1G>C Single submitter early-infantile DEE
c.1170+5G>A Single submitter early-infantile DEE
c.1171-2A>G Single submitter
c.1377+1del Single submitter
c.1377+1G>C Single submitter
c.1377+2T>A Single submitter early-infantile DEE
c.1377+2T>C Single submitter early-infantile DEE
c.1662+2T>C Single submitter
c.1663-1G>A Single submitter early-infantile DEE
c.1663-2A>C Single submitter
c.2044_6030del Single submitter Dravet syndrome
c.2044-1G>A Single submitter early-infantile DEE
c.2044-2del Single submitter early-infantile DEE
c.2176+1G>T Single submitter early-infantile DEE
c.2176+2T>C Single submitter generalized epilepsy with febrile seizures plus, type 2
c.2176+3T>A Single submitter Dravet syndrome
c.2177-1G>T Single submitter
c.2415+1del Single submitter developmental and epileptic encephalopathy
c.2415+1G>A Single submitter Dravet syndrome
c.2415+1G>C Single submitter
c.2416-1G>A Single submitter generalized epilepsy with febrile seizures plus, type 2
c.2416-1G>C Single submitter
c.2416-1G>T Single submitter
c.2416-2A>C Single submitter Autosomal dominant SCN1A-related disorders
c.2590-1G>A Single submitter early-infantile DEE
c.2590-1G>T Single submitter early-infantile DEE
c.262_264+1del Single submitter Dravet syndrome
c.264_264+5delinsTGCC Single submitter developmental and epileptic encephalopathy
c.265-1G>C Single submitter early-infantile DEE
c.2946+1_2946+2del Single submitter Dravet syndrome
c.2946+1_2946+2dup Single submitter
c.2946+1G>C Single submitter early-infantile DEE
c.2946+2T>G Single submitter
c.2947-1G>A Single submitter
c.3430-1552_3481del Single submitter Dravet syndrome
c.3705+2T>A Single submitter Dravet syndrome
c.382_383+4del Single submitter
c.383+6C>T Single submitter early-infantile DEE
c.384_1662dup Single submitter Dravet syndrome
c.384_964del Single submitter Dravet syndrome
c.384-1C>G Single submitter Dravet syndrome
c.384-1C>T Single submitter early-infantile DEE
c.3879+1G>T Single submitter Dravet syndrome
c.3880-2_3880-1del Single submitter Dravet syndrome
c.4003-1G>C Single submitter generalized epilepsy with febrile seizures plus, type 2
c.4285_4476del Single submitter Dravet syndrome
c.4338+4A>C Single submitter Dravet syndrome
c.473+1G>C Single submitter Dravet syndrome
c.474-2A>G Single submitter Inborn genetic diseases
c.559_602+6del Single submitter
c.602+3A>C Single submitter Dravet syndrome
c.602+5G>C Single submitter early-infantile DEE
c.603-2A>C Single submitter early-infantile DEE
c.626_694+31del Single submitter
c.655_964+402del Single submitter developmental and epileptic encephalopathy
c.694+1G>A Single submitter early-infantile DEE
c.694+5G>A Single submitter early-infantile DEE
c.695-2_697delinsCCACAA Single submitter
c.74_264+41del Single submitter early-infantile DEE
c.964+14T>G Single submitter Dravet syndrome
c.964+1G>A Single submitter early-infantile DEE
c.964+1G>C Single submitter
c.964+2_964+3insAAGATTCAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter early-infantile DEE
c.964+424_2022del Single submitter developmental and epileptic encephalopathy
c.965-2A>G Single submitter Dravet syndrome
c.965-5A>G Single submitter early-infantile DEE
p.Ala1024fs Single submitter
p.Ala1343Pro Single submitter
p.Ala1406fs Single submitter
p.Ala1440fs Single submitter
p.Ala1440Thr Single submitter Dravet syndrome
p.Ala1669Glu Single submitter early-infantile DEE
p.Ala1724Pro Single submitter Dravet syndrome
p.Ala175Val Single submitter early-infantile DEE
p.Ala201fs Single submitter
p.Ala201Glu Single submitter early-infantile DEE
p.Ala239Asp Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ala239fs Single submitter early-infantile DEE
p.Ala239Gly Single submitter early-infantile DEE
p.Ala24Thr Single submitter Dravet syndrome ⚠
p.Ala342Val Single submitter Dravet syndrome
p.Ala395fs Single submitter Dravet syndrome
p.Ala442fs Single submitter early-infantile DEE
p.Ala457fs Single submitter early-infantile DEE
p.Ala476fs Single submitter early-infantile DEE
p.Ala813fs Single submitter early-infantile DEE
p.Ala821fs Single submitter developmental and epileptic encephalopathy
p.Ala889fs Single submitter developmental and epileptic encephalopathy
p.Ala963fs Single submitter early-infantile DEE
p.Ala98fs Single submitter
p.Arg101Leu Single submitter
p.Arg1322fs Single submitter
p.Arg1645Pro Single submitter Dravet syndrome
p.Arg322Ile Single submitter early-infantile DEE
p.Arg393delinsLeuThr Single submitter Dravet syndrome
p.Arg393fs Single submitter
p.Arg393Pro Single submitter early-infantile DEE
p.Arg393Ser Single submitter early-infantile DEE
p.Arg497fs Single submitter Dravet syndrome
p.Arg535fs Single submitter
p.Arg560fs Single submitter early-infantile DEE
p.Arg567fs Single submitter
p.Arg580fs Single submitter early-infantile DEE
p.Arg605fs Single submitter
p.Arg612fs Single submitter early-infantile DEE
p.Arg617fs Single submitter
p.Arg627fs Single submitter early-infantile DEE
p.Arg630fs Single submitter developmental and epileptic encephalopathy
p.Arg862Pro Single submitter early-infantile DEE
p.Asn1128fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Asn1446_Gly2008del Single submitter Dravet syndrome
p.Asn1779fs Single submitter Dravet syndrome
p.Asn191Lys Single submitter early-infantile DEE
p.Asn211fs Single submitter early-infantile DEE
p.Asn299fs Single submitter Dravet syndrome
p.Asn338Ser Single submitter Dravet syndrome ⚠
p.Asn359Ile Single submitter
p.Asn386Lys Single submitter early-infantile DEE
p.Asn416delinsLysTer Single submitter
p.Asn416Lys Single submitter Epileptic encephalopathy
p.Asn47fs Single submitter
p.Asn541fs Single submitter early-infantile DEE
p.Asn601Ter Single submitter early-infantile DEE
p.Asn619fs Single submitter early-infantile DEE
p.Asn781fs Single submitter early-infantile DEE
p.Asn798fs Single submitter early-infantile DEE
p.Asn804Lys Single submitter early-infantile DEE
p.Asn833fs Single submitter early-infantile DEE
p.Asn86fs Single submitter early-infantile DEE
p.Asn94Tyr Single submitter early-infantile DEE
p.Asn980Lys Single submitter early-infantile DEE
p.Asn980Ser Single submitter
p.Asp1006fs Single submitter Dravet syndrome
p.Asp1243fs Single submitter Dravet syndrome
p.Asp12fs Single submitter Dravet syndrome
p.Asp1389fs Single submitter
p.Asp152fs Single submitter developmental and epileptic encephalopathy
p.Asp1703Val Single submitter Dravet syndrome
p.Asp1755Gly Single submitter Dravet syndrome
p.Asp188fs Single submitter early-infantile DEE
p.Asp249Glu Single submitter Dravet syndrome ⚠
p.Asp313_Trp314insTer Single submitter
p.Asp313fs Single submitter early-infantile DEE
p.Asp366_Phe368del Single submitter early-infantile DEE
p.Asp366fs Single submitter Dravet syndrome
p.Asp382Asn Single submitter early-infantile DEE
p.Asp43fs Single submitter Dravet syndrome
p.Asp481fs Single submitter Dravet syndrome
p.Asp583fs Single submitter early-infantile DEE
p.Asp593fs Single submitter early-infantile DEE
p.Asp79Asn Single submitter
p.Asp79Gly Single submitter early-infantile DEE
p.Asp81Asn Single submitter developmental and epileptic encephalopathy 6B
p.Asp81Glu Single submitter early-infantile DEE
p.Asp918fs Single submitter early-infantile DEE
p.Asp936Ala Single submitter early-infantile DEE
p.Asp936Gly Single submitter early-infantile DEE
p.Asp958fs Single submitter Inborn genetic diseases
p.Cys1185fs Single submitter
p.Cys1396Ter Single submitter Dravet syndrome

Pathogenic/Likely pathogenic 123

c.1028+1del Multiple submitters Dravet syndrome
c.1171-1G>A Multiple submitters early-infantile DEE
c.1377+1G>A Multiple submitters Dravet syndrome
c.1662+1G>T Multiple submitters SCN1A-related disorder
c.1662+3A>G Multiple submitters early-infantile DEE
c.1663-2A>G Multiple submitters Inborn genetic diseases
c.2589+2dup Multiple submitters Dravet syndrome
c.264+1G>A Multiple submitters early-infantile DEE
c.264+4_264+7del Multiple submitters early-infantile DEE
c.264+5G>A Multiple submitters early-infantile DEE
c.2946+5G>A Multiple submitters early-infantile DEE
c.4581+5G>C Multiple submitters early-infantile DEE
c.4582-2A>G Multiple submitters SCN1A-related disorder
c.473+5G>A Multiple submitters early-infantile DEE
c.473+5G>C Multiple submitters early-infantile DEE
c.602+1del Multiple submitters Dravet syndrome
c.602+2dup Multiple submitters early-infantile DEE
c.965-1G>A Multiple submitters early-infantile DEE
p.Ala121Pro Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Ala1662Val Multiple submitters Inborn genetic diseases
p.Ala175Thr Multiple submitters early-infantile DEE
p.Ala239Val Multiple submitters SCN1A-related disorder
p.Ala342Ser Multiple submitters Dravet syndrome ⚠
p.Ala395Asp Multiple submitters early-infantile DEE
p.Ala425fs Multiple submitters Autosomal dominant epilepsy
p.Ala889Thr Multiple submitters early-infantile DEE
p.Ala989Val Multiple submitters early-infantile DEE
p.Arg101Trp Multiple submitters SCN1A-related disorder
p.Arg118Ser Multiple submitters Dravet syndrome
p.Arg1861Trp Multiple submitters Seizure
p.Arg222Ter Multiple submitters developmental and epileptic encephalopathy 6B
p.Arg377Gln Multiple submitters early-infantile DEE
p.Arg377Leu Multiple submitters SCN1A-related disorder
p.Arg393Cys Multiple submitters early-infantile DEE
p.Arg393His Multiple submitters SCN1A-related disorder
p.Arg862Leu Multiple submitters early-infantile DEE
p.Arg862Ter Multiple submitters early-infantile DEE
p.Arg865Gln Multiple submitters early-infantile DEE
p.Arg931Cys Multiple submitters early-infantile DEE
p.Arg931Leu Multiple submitters Dravet syndrome
p.Arg931Pro Multiple submitters early-infantile DEE
p.Arg931Ser Multiple submitters Dravet syndrome
p.Arg946His Multiple submitters SCN1A-related disorder
p.Arg946Pro Multiple submitters Dravet syndrome
p.Asn1672His Multiple submitters SCN1A-related disorder
p.Asp1608Tyr Multiple submitters early-infantile DEE
p.Asp194Asn Multiple submitters early-infantile DEE
p.Asp194Tyr Multiple submitters early-infantile DEE
p.Asp366His Multiple submitters early-infantile DEE
p.Cys1588Arg Multiple submitters early-infantile DEE
p.Cys1716Arg Multiple submitters early-infantile DEE
p.Cys257Arg Multiple submitters Dravet syndrome
p.Cys277Tyr Multiple submitters Dravet syndrome
p.Cys345Phe Multiple submitters early-infantile DEE
p.Cys737fs Multiple submitters SCN1A-related disorder
p.Cys927Arg Multiple submitters early-infantile DEE
p.Cys959Arg Multiple submitters early-infantile DEE
p.Cys968Tyr Multiple submitters developmental and epileptic encephalopathy 6B
p.Gln1923His Multiple submitters early-infantile DEE
p.Gln910Arg Multiple submitters early-infantile DEE
p.Gln928Ter Multiple submitters developmental and epileptic encephalopathy 6B
p.Glu435fs Multiple submitters Dravet syndrome
p.Gly1275Asp Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Gly1365Asp Multiple submitters early-infantile DEE
p.Gly1754Glu Multiple submitters early-infantile DEE
p.Gly271Ser Multiple submitters Dravet syndrome
p.Gly271Val Multiple submitters early-infantile DEE
p.Gly329Ala Multiple submitters early-infantile DEE
p.Gly329Cys Multiple submitters developmental and epileptic encephalopathy 6B
p.Gly329Val Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Gly343Arg Multiple submitters SCN1A-related disorder ⚠
p.Gly343Asp Multiple submitters Inborn genetic diseases
p.Gly682Ter Multiple submitters SCN1A-related disorder
p.His933Tyr Multiple submitters Inborn genetic diseases
p.His939Tyr Multiple submitters Dravet syndrome
p.Ile138Ser Multiple submitters SCN1A-related disorder
p.Ile173Asn Multiple submitters early-infantile DEE
p.Ile1922Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Ile227Thr Multiple submitters migraine, familial hemiplegic, 3
p.Ile252Asn Multiple submitters developmental and epileptic encephalopathy 6B
p.Ile415Lys Multiple submitters early-infantile DEE
p.Ile91Thr Multiple submitters SCN1A-related disorder
p.Leu117Pro Multiple submitters early-infantile DEE
p.Leu1621Pro Multiple submitters early-infantile DEE
p.Leu180Ter Multiple submitters early-infantile DEE
p.Leu221Pro Multiple submitters Dravet syndrome
p.Leu373Ser Multiple submitters early-infantile DEE
p.Leu378fs Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Leu390Pro Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Leu77Pro Multiple submitters early-infantile DEE
p.Leu991Phe Multiple submitters Dravet syndrome
p.Lys1492= Multiple submitters early-infantile DEE
p.Met785fs Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Met934Arg Multiple submitters early-infantile DEE
p.Met956Thr Multiple submitters early-infantile DEE
p.Met976Thr Multiple submitters early-infantile DEE
p.Phe1765Ser Multiple submitters Dravet syndrome
p.Phe403Leu Multiple submitters early-infantile DEE
p.Phe784fs Multiple submitters early-infantile DEE
p.Phe90Ser Multiple submitters early-infantile DEE
p.Pro113Leu Multiple submitters SCN1A-related disorder
p.Pro113Ser Multiple submitters epilepsy
p.Pro189fs Multiple submitters developmental and epileptic encephalopathy 6B
p.Ser1328Pro Multiple submitters early-infantile DEE
p.Ser259Arg Multiple submitters Dravet syndrome
p.Ser872Tyr Multiple submitters Dravet syndrome ⚠
p.Ser940Phe Multiple submitters early-infantile DEE
p.Thr105Ile Multiple submitters
p.Thr160Asn Multiple submitters early-infantile DEE
p.Thr162Ile Multiple submitters early-infantile DEE ⚠
p.Thr363Pro Multiple submitters early-infantile DEE
p.Thr875Met Multiple submitters early-infantile DEE
p.Tyr165His Multiple submitters developmental and epileptic encephalopathy 6B
p.Tyr325del Multiple submitters obesity disorder
p.Tyr426Cys Multiple submitters early-infantile DEE
p.Tyr790Phe Multiple submitters early-infantile DEE ⚠
p.Tyr84Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Val1534Asp Multiple submitters Dravet syndrome
p.Val421Met Multiple submitters Dravet syndrome
p.Val422Met Multiple submitters early-infantile DEE
p.Val887Glu Multiple submitters Autosomal dominant SCN1A-related disorders
p.Val896Ile Multiple submitters early-infantile DEE
p.Val983Ile Multiple submitters early-infantile DEE

Likely pathogenic 325

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala420Val Expert panel generalized epilepsy with febrile seizures plus
p.Arg219Gly Expert panel genetic developmental and epileptic encephalopathy
p.Arg219Thr Expert panel genetic developmental and epileptic encephalopathy
p.Gly908Arg Expert panel Dravet syndrome
p.Pro1838fs Expert panel Dravet syndrome
p.Pro768Leu Expert panel Dravet syndrome
p.Ser570Asn Expert panel generalized epilepsy with febrile seizures plus
c.2043+1G>A Multiple submitters Dravet syndrome
c.383+5C>G Multiple submitters Autosomal dominant SCN1A-related disorders
p.Ala394Val Multiple submitters early-infantile DEE
p.Ala395Gly Multiple submitters early-infantile DEE
p.Asn416Ser Multiple submitters Dravet syndrome
p.Gly210Asp Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Ile1347Asn Multiple submitters early-infantile DEE
p.Ile236Val Multiple submitters Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) ⚠
p.Ile68Ser Multiple submitters early-infantile DEE
p.Leu139Phe Multiple submitters early-infantile DEE
p.Leu266Pro Multiple submitters early-infantile DEE
p.Leu378Gln Multiple submitters early-infantile DEE
p.Leu879Arg Multiple submitters developmental and epileptic encephalopathy 6B
p.Leu897Phe Multiple submitters migraine, familial hemiplegic, 3
p.Met785Thr Multiple submitters developmental and epileptic encephalopathy 6B
p.Phe1692Ser Multiple submitters early-infantile DEE
p.Phe402Ile Multiple submitters Dravet syndrome
p.Phe412Leu Multiple submitters early-infantile DEE
p.Phe995Cys Multiple submitters early-infantile DEE
p.Pro346Leu Multiple submitters SCN1A-related disorder
p.Ser940Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 2
p.Ser994Leu Multiple submitters
p.Thr112Ile Multiple submitters early-infantile DEE
p.Thr782Ala Multiple submitters SCN1A-related disorder
p.Thr782Ile Multiple submitters developmental and epileptic encephalopathy 6B
p.Trp1812Gly Multiple submitters Seizure
p.Trp932Arg Multiple submitters SCN1A-related disorder
p.Val250Glu Multiple submitters
p.Val983Gly Multiple submitters generalized epilepsy with febrile seizures plus, type 2
c.1029-2A>C Single submitter Inborn genetic diseases
c.1029-3C>A Single submitter Inborn genetic diseases
c.1170+4A>G Single submitter
c.1663-3_1663-2del Single submitter early-infantile DEE
c.2415+1G>T Single submitter Dravet syndrome
c.2415+2T>C Single submitter Dravet syndrome
c.2415+431C>G Single submitter Dravet syndrome
c.2415+4A>G Single submitter
c.2589+1G>C Single submitter Dravet syndrome
c.2589+3A>G Single submitter generalized epilepsy with febrile seizures plus, type 2
c.2590-3_2601del Single submitter early-infantile DEE
c.264+1G>C Single submitter developmental and epileptic encephalopathy
c.264+3G>C Single submitter early-infantile DEE
c.264+6T>G Single submitter
c.265-2028C>G Single submitter Dravet syndrome
c.265-3C>G Single submitter developmental and epileptic encephalopathy
c.(3429+1_3430-1 Single submitter generalized epilepsy with febrile seizures plus, type 2
c.383+2T>C Single submitter Dravet syndrome
c.384-12A>C Single submitter Dravet syndrome
c.384-2A>G Single submitter Dravet syndrome
c.4003-4T>G Single submitter Dravet syndrome
c.4284+4A>C Single submitter generalized epilepsy with febrile seizures plus, type 2
c.4475_4476+1del Single submitter generalized epilepsy with febrile seizures plus, type 2
c.4581+18A>G Single submitter Dravet syndrome
c.471_473+6del Single submitter early-infantile DEE
c.472_473+2del Single submitter Dravet syndrome
c.4852_4852+14del Single submitter Dravet syndrome
c.695-1G>A Single submitter
c.695-2A>G Single submitter early-infantile DEE
c.964+1G>T Single submitter Dravet syndrome
c.964+5G>A Single submitter
c.-350_264dup Single submitter epilepsy
p.Ala104del Single submitter
p.Ala121Gly Single submitter early-infantile DEE
p.Ala1441Pro Single submitter Inborn genetic diseases
p.Ala201Val Single submitter early-infantile DEE
p.Ala223Pro Single submitter
p.Ala333Thr Single submitter early-infantile DEE
p.Ala342Glu Single submitter Dravet syndrome
p.Ala371Pro Single submitter Dravet syndrome
p.Ala371Val Single submitter
p.Ala420fs Single submitter Autosomal dominant epilepsy
p.Ala420Pro Single submitter early-infantile DEE
p.Ala786Val Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ala821Pro Single submitter epilepsy
p.Ala966fs Single submitter
p.Arg1642Ser Single submitter
p.Arg27fs Single submitter SCN1A-related disorder
p.Arg377Gly Single submitter early-infantile DEE
p.Arg377His Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Arg377Pro Single submitter early-infantile DEE
p.Arg393Gly Single submitter early-infantile DEE
p.Arg393Leu Single submitter Autosomal dominant SCN1A-related disorders
p.Arg478fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Arg604fs Single submitter Dravet syndrome
p.Arg690Ter Single submitter Dravet syndrome
p.Arg859Leu Single submitter early-infantile DEE
p.Arg865Pro Single submitter
p.Arg931Gly Single submitter early-infantile DEE
p.Arg946Leu Single submitter early-infantile DEE
p.Asn1011Tyr Single submitter Paediatric disorders
p.Asn1509His Single submitter Dravet syndrome ⚠
p.Asn1706fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Asn275Thr Single submitter SCN1A-related disorder ⚠
p.Asn357Tyr Single submitter
p.Asn359Lys Single submitter Dravet syndrome
p.Asn36fs Single submitter developmental and epileptic encephalopathy 6B
p.Asn621fs Single submitter SCN1A-related disorder
p.Asn798_Val802delinsIle Single submitter Dravet syndrome
p.Asn985Lys Single submitter ⚠
p.Asp1288Tyr Single submitter Dravet syndrome
p.Asp1702Tyr Single submitter
p.Asp188Gly Single submitter
p.Asp188Tyr Single submitter Inborn genetic diseases
p.Asp188Val Single submitter early-infantile DEE
p.Asp320Gly Single submitter Seizure
p.Asp589Val Single submitter ⚠
p.Asp674fs Single submitter Dravet syndrome
p.Asp767fs Single submitter SCN1A-related disorder
p.Asp79Ala Single submitter early-infantile DEE
p.Asp79Glu Single submitter early-infantile DEE ⚠
p.Asp81Tyr Single submitter early-infantile DEE
p.Asp81Val Single submitter early-infantile DEE
p.Asp823Val Single submitter developmental and epileptic encephalopathy, 6A
p.Asp936Glu Single submitter Dravet syndrome
p.Asp936His Single submitter Dravet syndrome
p.Cys142Tyr Single submitter SCN1A-related disorder
p.Cys1741Ser Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Cys277Ser Single submitter Dravet syndrome
p.Cys336Arg Single submitter Dravet syndrome
p.Cys336Ser Single submitter SCN1A-related disorder
p.Cys336Trp Single submitter early-infantile DEE
p.Cys351Gly Single submitter early-infantile DEE
p.Cys949fs Single submitter Dravet syndrome
p.Cys968Ser Single submitter early-infantile DEE
p.Cys968Trp Single submitter early-infantile DEE
p.Gln1013fs Single submitter Dravet syndrome
p.Gln1166fs Single submitter Dravet syndrome
p.Gln1923Pro Single submitter Dravet syndrome
p.Gln242Arg Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Gln381Glu Single submitter
p.Gln446fs Single submitter Dravet syndrome
p.Gln455Ter Single submitter
p.Gln459Arg Single submitter early-infantile DEE ⚠
p.Gln554Ter Single submitter
p.Gln910Ter Single submitter Dravet syndrome
p.Glu1008fs Single submitter Dravet syndrome
p.Glu1623Gln Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Glu168Gln Single submitter
p.Glu181del Single submitter early-infantile DEE
p.Glu1891fs Single submitter Dravet syndrome
p.Glu328fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Glu385Ala Single submitter early-infantile DEE
p.Glu427fs Single submitter SCN1A-related disorder
p.Glu705fs Single submitter
p.Glu788Gly Single submitter early-infantile DEE
p.Glu788Val Single submitter early-infantile DEE
p.Glu78Lys Single submitter early-infantile DEE
p.Glu954Gln Single submitter early-infantile DEE
p.Glu954Gly Single submitter early-infantile DEE
p.Gly329Asp Single submitter early-infantile DEE ⚠
p.Gly329Ser Single submitter early-infantile DEE ⚠
p.Gly343Ala Single submitter early-infantile DEE
p.Gly361fs Single submitter Dravet syndrome
p.Gly361Ser Single submitter early-infantile DEE ⚠
p.Gly361Val Single submitter early-infantile DEE
p.Gly410Val Single submitter developmental and epileptic encephalopathy
p.Gly58Val Single submitter Dravet syndrome
p.Gly848Ter Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Gly891Arg Single submitter generalized epilepsy with febrile seizures plus, type 2
p.His933Gln Single submitter
p.His939Asp Single submitter Seizure
p.His939fs Single submitter Dravet syndrome
p.His939Pro Single submitter
p.Ile122Met Single submitter
p.Ile138Val Single submitter Dravet syndrome
p.Ile1482Leu Single submitter Dravet syndrome
p.Ile1498Thr Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ile1593Asn Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ile164Lys Single submitter
p.Ile1673Lys Single submitter
p.Ile241Asn Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ile252Leu Single submitter early-infantile DEE ⚠
p.Ile278fs Single submitter SCN1A-related disorder
p.Ile278Lys Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ile407Asn Single submitter early-infantile DEE
p.Ile415Thr Single submitter early-infantile DEE
p.Ile882Phe Single submitter
p.Ile978Thr Single submitter early-infantile DEE
p.Ile99Val Single submitter early-infantile DEE ⚠
p.Leu108Gln Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Leu1318Arg Single submitter Dravet syndrome
p.Leu1321fs Single submitter Dravet syndrome
p.Leu1624Pro Single submitter
p.Leu170Pro Single submitter
p.Leu1849Pro Single submitter Dravet syndrome
p.Leu209Arg Single submitter early-infantile DEE
p.Leu240Pro Single submitter Seizure
p.Leu263Pro Single submitter early-infantile DEE
p.Leu266fs Single submitter SCN1A-related disorder
p.Leu273Pro Single submitter
p.Leu375Phe Single submitter SCN1A-related disorder
p.Leu387Pro Single submitter developmental and epileptic encephalopathy
p.Leu405Ser Single submitter Dravet syndrome
p.Leu489Ter Single submitter Dravet syndrome
p.Leu61Pro Single submitter sudden unexplained death in childhood
p.Leu772fs Single submitter
p.Leu869Ser Single submitter
p.Leu93Ser Single submitter early-infantile DEE
p.Leu948Pro Single submitter
p.Leu969Phe Single submitter
p.Leu984Arg Single submitter early-infantile DEE
p.Leu988Arg Single submitter Dravet syndrome
p.Leu990Phe Single submitter
p.Lys1529Ter Single submitter Dravet syndrome
p.Lys225Glu Single submitter developmental and epileptic encephalopathy
p.Lys276Ile Single submitter
p.Lys38fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Lys50_Pro51delinsThr Single submitter early-infantile DEE
p.Lys50fs Single submitter Dravet syndrome
p.Lys758Thr Single submitter early-infantile DEE
p.Met1348Thr Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Met135fs Single submitter SCN1A-related disorder
p.Met145Arg Single submitter Dravet syndrome
p.Met251Arg Single submitter developmental and epileptic encephalopathy
p.Met251Leu Single submitter early-infantile DEE
p.Met270fs Single submitter Dravet syndrome
p.Met379Val Single submitter
p.Met641fs Single submitter migraine, familial hemiplegic, 3
p.Met72dup Single submitter early-infantile DEE
p.Met785Ile Single submitter early-infantile DEE
p.Met787Lys Single submitter migraine, familial hemiplegic, 3
p.Met909fs Single submitter SCN1A-related disorder
p.Met934Leu Single submitter developmental and epileptic encephalopathy 6B
p.Met956Val Single submitter
p.Met960fs Single submitter Dravet syndrome
p.Met960Lys Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Phe100Leu Single submitter early-infantile DEE
p.Phe1223Cys Single submitter Dravet syndrome
p.Phe1373Ile Single submitter Dravet syndrome
p.Phe185fs Single submitter SCN1A-related disorder
p.Phe261fs Single submitter
p.Phe383Ser Single submitter
p.Phe403del Single submitter early-infantile DEE
p.Phe408fs Single submitter Dravet syndrome
p.Phe811Leu Single submitter early-infantile DEE
p.Phe811Ser Single submitter Dravet syndrome
p.Phe838del Single submitter Inborn genetic diseases
p.Phe987fs Single submitter Dravet syndrome
p.Pro113Arg Single submitter Dravet syndrome
p.Pro1748fs Single submitter Dravet syndrome
p.Pro281Thr Single submitter Inborn genetic diseases
p.Pro346Gln Single submitter developmental and epileptic encephalopathy 6B
p.Pro358Ala Single submitter Dravet syndrome
p.Pro358Thr Single submitter Dravet syndrome
p.Pro768Ala Single submitter early-infantile DEE
p.Pro76Leu Single submitter early-infantile DEE
p.Pro76Ser Single submitter early-infantile DEE
p.Ser106Phe Single submitter SCN1A-related disorder
p.Ser169Pro Single submitter Dravet syndrome
p.Ser228Leu Single submitter Dravet syndrome
p.Ser228Pro Single submitter Dravet syndrome
p.Ser243Pro Single submitter early-infantile DEE
p.Ser316fs Single submitter SCN1A-related disorder
p.Ser364Arg Single submitter
p.Ser374Pro Single submitter early-infantile DEE
p.Ser374Tyr Single submitter early-infantile DEE
p.Ser474Arg Single submitter early-infantile DEE ⚠
p.Ser490fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ser525Phe Single submitter early-infantile DEE ⚠
p.Ser562fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ser843Gly Single submitter early-infantile DEE ⚠
p.Ser993Arg Single submitter
p.Thr105Ser Single submitter early-infantile DEE ⚠
p.Thr146Lys Single submitter Dravet syndrome
p.Thr160Ser Single submitter early-infantile DEE
p.Thr1658Ter Single submitter Dravet syndrome
p.Thr184Pro Single submitter Dravet syndrome
p.Thr18del Single submitter
p.Thr217Ile Single submitter early-infantile DEE
p.Thr723fs Single submitter Dravet syndrome
p.Thr812Pro Single submitter early-infantile DEE
p.Thr875Lys Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Thr894Ser Single submitter
p.Thr89fs Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Thr955Ile Single submitter early-infantile DEE
p.Thr955Ser Single submitter early-infantile DEE
p.Trp314Arg Single submitter early-infantile DEE
p.Trp384Gly Single submitter early-infantile DEE
p.Trp873Ser Single submitter early-infantile DEE
p.Trp932Cys Single submitter developmental and epileptic encephalopathy
p.Trp952Leu Single submitter early-infantile DEE
p.Trp957Gly Single submitter developmental and epileptic encephalopathy
p.Tyr1374Ter Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Tyr165Cys Single submitter early-infantile DEE
p.Tyr388Cys Single submitter early-infantile DEE
p.Tyr399Asp Single submitter
p.Tyr413fs Single submitter SCN1A-related disorder
p.Tyr413Ter Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Tyr426Phe Single submitter early-infantile DEE ⚠
p.Tyr545His Single submitter ⚠
p.Tyr549Ter Single submitter SCN1A-related disorder
p.Tyr790Asn Single submitter early-infantile DEE
p.Tyr790fs Single submitter

Conflicting classifications of pathogenicity 184

c.1029-7C>G Single submitter early-infantile DEE
c.1171-6T>C Single submitter early-infantile DEE
c.1378-3T>C Single submitter early-infantile DEE
c.1378-3T>G Single submitter early-infantile DEE
c.1663-3T>C Single submitter early-infantile DEE
c.1663-7C>T Single submitter early-infantile DEE
c.2044-14A>T Single submitter early-infantile DEE
c.2044-5dup Single submitter early-infantile DEE
c.2176+11A>C Single submitter generalized epilepsy with febrile seizures plus, type 2
c.2415+8T>C Single submitter early-infantile DEE
c.2416-35_2419dup Single submitter early-infantile DEE
c.2946+4T>C Single submitter early-infantile DEE
c.383+5C>A Single submitter
c.384-5C>T Single submitter early-infantile DEE
c.4476+6T>C Single submitter Dravet syndrome
c.602+3_602+6del Single submitter migraine, familial hemiplegic, 3
c.694+10A>G Single submitter early-infantile DEE
c.694+5G>C Single submitter early-infantile DEE
c.964+12_964+15del Single submitter early-infantile DEE
c.965-14_965-11del Single submitter early-infantile DEE
p.Ala1015Val Single submitter early-infantile DEE ⚠
p.Ala1938Val Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ala30= Single submitter early-infantile DEE
p.Ala395Val Single submitter early-infantile DEE ⚠
p.Ala420Asp Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Ala432Pro Single submitter early-infantile DEE ⚠
p.Ala486Gly Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Ala637Val Single submitter early-infantile DEE ⚠
p.Arg118Lys Single submitter early-infantile DEE ⚠
p.Arg1575Cys Single submitter early-infantile DEE
p.Arg27Thr Single submitter Inborn genetic diseases ⚠
p.Arg28Cys Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Arg28Leu Single submitter early-infantile DEE ⚠
p.Arg377= Single submitter Inborn genetic diseases
p.Arg500Gln Single submitter early-infantile DEE
p.Arg535Cys Single submitter early-infantile DEE ⚠
p.Arg535His Single submitter Dravet syndrome ⚠
p.Arg542Gln Single submitter early-infantile DEE ⚠
p.Arg560= Single submitter Inborn genetic diseases
p.Arg568Gln Single submitter early-infantile DEE ⚠
p.Arg580Gln Single submitter early-infantile DEE ⚠
p.Arg605Thr Single submitter Inborn genetic diseases ⚠
p.Arg613Gln Single submitter early-infantile DEE ⚠
p.Arg618Cys Single submitter early-infantile DEE ⚠
p.Arg630Gln Single submitter early-infantile DEE ⚠
p.Arg693Lys Single submitter early-infantile DEE ⚠
p.Arg712Gln Single submitter early-infantile DEE ⚠
p.Arg862Gln Single submitter SCN1A-related disorder ⚠
p.Arg946= Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Asn115Ser Single submitter early-infantile DEE ⚠
p.Asn141Lys Single submitter early-infantile DEE ⚠
p.Asn211Ser Single submitter early-infantile DEE ⚠
p.Asn211Thr Single submitter early-infantile DEE ⚠
p.Asn284= Single submitter early-infantile DEE
p.Asn359Ser Single submitter early-infantile DEE ⚠
p.Asn601= Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Asp1004= Single submitter early-infantile DEE
p.Asp1740Asn Single submitter Autosomal dominant epilepsy ⚠
p.Asp249Gly Single submitter early-infantile DEE ⚠
p.Asp40Asn Single submitter early-infantile DEE ⚠
p.Asp40Gly Single submitter Inborn genetic diseases ⚠
p.Asp45= Single submitter early-infantile DEE
p.Asp516Asn Single submitter early-infantile DEE ⚠
p.Asp606= Single submitter early-infantile DEE
p.Asp674His Single submitter developmental and epileptic encephalopathy ⚠
p.Asp81Gly Single submitter Dravet syndrome ⚠
p.Asp836= Single submitter migraine, familial hemiplegic, 3
p.Asp998Glu Single submitter Dravet syndrome ⚠
p.Asp998Gly Single submitter early-infantile DEE ⚠
p.Cys927Phe Single submitter early-infantile DEE ⚠
p.Gln1013= Single submitter Inborn genetic diseases
p.Gln267Pro Single submitter Inborn genetic diseases ⚠
p.Gln459= Single submitter Dravet syndrome
p.Gln709Glu Single submitter Inborn genetic diseases ⚠
p.Gln928His Single submitter early-infantile DEE ⚠
p.Glu1143= Single submitter early-infantile DEE
p.Glu1238Asp Single submitter early-infantile DEE ⚠
p.Glu158Gln Single submitter early-infantile DEE ⚠
p.Glu1971Gly Single submitter early-infantile DEE ⚠
p.Glu293Asp Single submitter early-infantile DEE ⚠
p.Glu307Lys Single submitter early-infantile DEE ⚠
p.Glu427Lys Single submitter early-infantile DEE ⚠
p.Glu443= Single submitter early-infantile DEE
p.Glu599= Single submitter Inborn genetic diseases
p.Glu686Ala Single submitter early-infantile DEE ⚠
p.Gly343Ser Single submitter early-infantile DEE ⚠
p.Gly361Asp Single submitter early-infantile DEE ⚠
p.Gly48= Single submitter early-infantile DEE
p.Gly615Arg Single submitter migraine, familial hemiplegic, 3 ⚠
p.Gly682Val Single submitter Inborn genetic diseases ⚠
p.Gly837Ser Single submitter early-infantile DEE ⚠
p.His1020Gln Single submitter early-infantile DEE ⚠
p.His127Asp Single submitter early-infantile DEE ⚠
p.His127Leu Single submitter Dravet syndrome ⚠
p.His127Tyr Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.His324Arg Single submitter early-infantile DEE ⚠
p.Ile173Met Single submitter Seizure ⚠
p.Ile236Thr Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Ile292Thr Single submitter early-infantile DEE ⚠
p.Ile292Val Single submitter early-infantile DEE ⚠
p.Ile296Val Single submitter migraine, familial hemiplegic, 3 ⚠
p.Ile305Thr Single submitter Inborn genetic diseases ⚠
p.Ile529Thr Single submitter early-infantile DEE
p.Ile673Thr Single submitter early-infantile DEE
p.Ile68Thr Single submitter early-infantile DEE ⚠
p.Ile747Thr Single submitter migraine, familial hemiplegic, 3 ⚠
p.Ile839Thr Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ile883= Single submitter early-infantile DEE
p.Ile883Thr Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ile953Thr Single submitter early-infantile DEE ⚠
p.Leu111= Single submitter early-infantile DEE
p.Leu139Trp Single submitter early-infantile DEE ⚠
p.Leu186Pro Single submitter migraine, familial hemiplegic, 3 ⚠
p.Leu193= Single submitter early-infantile DEE
p.Leu221Val Single submitter migraine, familial hemiplegic, 3 ⚠
p.Leu224Phe Single submitter ⚠
p.Leu268= Single submitter early-infantile DEE
p.Leu287Val Single submitter early-infantile DEE ⚠
p.Leu334Val Single submitter early-infantile DEE ⚠
p.Leu387Phe Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Leu392Ser Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Leu842Phe Single submitter early-infantile DEE ⚠
p.Leu992Pro Single submitter Dravet syndrome ⚠
p.Lys547Asn Single submitter Inborn genetic diseases ⚠
p.Lys88Asn Single submitter early-infantile DEE ⚠
p.Met1559Thr Single submitter early-infantile DEE ⚠
p.Met1894Thr Single submitter early-infantile DEE ⚠
p.Met251Val Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Met270Ile Single submitter early-infantile DEE ⚠
p.Met400Val Single submitter early-infantile DEE ⚠
p.Met424Thr Single submitter early-infantile DEE ⚠
p.Met631Val Single submitter intellectual disability ⚠
p.Met785Leu Single submitter Inborn genetic diseases ⚠
p.Met787Thr Single submitter ⚠
p.Met960Val Single submitter developmental and epileptic encephalopathy ⚠
p.Met976Leu Single submitter early-infantile DEE ⚠
p.Phe1466Val Single submitter early-infantile DEE ⚠
p.Phe269Leu Single submitter early-infantile DEE ⚠
p.Phe402Leu Single submitter ⚠
p.Phe995Leu Single submitter Dravet syndrome ⚠
p.Pro37Thr Single submitter early-infantile DEE ⚠
p.Pro663Leu Single submitter Inborn genetic diseases ⚠
p.Pro669= Single submitter early-infantile DEE
p.Pro82Leu Single submitter early-infantile DEE ⚠
p.Ser1471Cys Single submitter Inborn genetic diseases ⚠
p.Ser213Leu Single submitter early-infantile DEE ⚠
p.Ser364Ile Single submitter ⚠
p.Ser364Thr Single submitter developmental and epileptic encephalopathy, 6A ⚠
p.Ser528Cys Single submitter early-infantile DEE ⚠
p.Ser551Phe Single submitter early-infantile DEE ⚠
p.Ser573Arg Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ser596Gly Single submitter early-infantile DEE ⚠
p.Ser643Asn Single submitter Inborn genetic diseases ⚠
p.Ser695Arg Single submitter early-infantile DEE
p.Ser993Gly Single submitter early-infantile DEE ⚠
p.Thr199= Single submitter early-infantile DEE
p.Thr199Ile Single submitter early-infantile DEE ⚠
p.Thr204Ile Single submitter Inborn genetic diseases ⚠
p.Thr254= Single submitter early-infantile DEE
p.Thr297Ile Single submitter early-infantile DEE
p.Thr303= Single submitter early-infantile DEE
p.Thr303Ser Single submitter Inborn genetic diseases ⚠
p.Thr398= Single submitter early-infantile DEE
p.Thr398Met Single submitter early-infantile DEE ⚠
p.Thr597Asn Single submitter early-infantile DEE
p.Thr661Ile Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Thr841Met Single submitter early-infantile DEE ⚠
p.Trp370Cys Single submitter early-infantile DEE ⚠
p.Tyr1025Phe Single submitter early-infantile DEE ⚠
p.Tyr1460Cys Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Tyr1599Asp Single submitter early-infantile DEE ⚠
p.Tyr202= Single submitter early-infantile DEE
p.Tyr739His Single submitter Inborn genetic diseases ⚠
p.Val1016Met Single submitter Inborn genetic diseases ⚠
p.Val1297Ile Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Val250Ile Single submitter SCN1A-related disorder ⚠
p.Val406Phe Single submitter early-infantile DEE ⚠
p.Val650Met Single submitter early-infantile DEE
p.Val699Ile Single submitter early-infantile DEE ⚠
p.Val840= Single submitter early-infantile DEE
p.Val887Met Single submitter Inborn genetic diseases ⚠
p.Val906Met Single submitter early-infantile DEE ⚠
p.Val947Met Single submitter early-infantile DEE ⚠
p.Val971Ile Single submitter developmental and epileptic encephalopathy 6B ⚠

Benign 78

c.1028+112C>A Multiple submitters
c.1028+21T>C Multiple submitters
c.1029-12C>T Multiple submitters early-infantile DEE
c.1029-68C>T Multiple submitters
c.1170+75C>A Multiple submitters
c.1377+10C>T Multiple submitters early-infantile DEE
c.1377+52G>A Multiple submitters
c.1377+92T>G Multiple submitters
c.1663-47T>G Multiple submitters
c.2043+107G>A Multiple submitters
c.2044-20A>G Multiple submitters early-infantile DEE
c.2176+17A>G Multiple submitters early-infantile DEE
c.2177-11dup Multiple submitters Dravet syndrome
c.2177-12_2177-11dup Multiple submitters
c.2177-38C>A Multiple submitters
c.2416-181A>C Multiple submitters
c.2589+114T>C Multiple submitters
c.2589+18_2589+19del Multiple submitters
c.265-137G>T Multiple submitters
c.2946+56A>G Multiple submitters
c.2947-41C>T Multiple submitters
c.383+66T>C Multiple submitters
c.384-20G>C Multiple submitters early-infantile DEE
c.603-106G>T Multiple submitters
c.603-242T>C Multiple submitters
c.694+184G>A Multiple submitters
c.694+258G>A Multiple submitters
c.964+116A>T Multiple submitters
c.964+199T>G Multiple submitters
c.964+258G>A Multiple submitters
c.964+41T>A Multiple submitters
c.965-113A>T Multiple submitters
c.965-21C>T Multiple submitters
c.-49-34A>T Multiple submitters
p.Val404= Multiple submitters early-infantile DEE
c.1029-177C>T Single submitter
c.1029-47A>G Single submitter
c.1170+112C>T Single submitter
c.1171-174A>G Single submitter
c.1171-270G>T Single submitter
c.1378-152del Single submitter
c.1378-266T>A Single submitter
c.2043+301C>T Single submitter
c.2044-168A>T Single submitter
c.2044-6_2044-5dup Single submitter early-infantile DEE
c.2177-270A>G Single submitter
c.2177-29G>C Single submitter
c.2416-256C>T Single submitter
c.2416-37A>C Single submitter
c.2416-72G>A Single submitter
c.2589+172T>C Single submitter
c.2589+208A>G Single submitter
c.2589+221_2589+224del Single submitter
c.2590-239A>G Single submitter
c.2590-285A>G Single submitter
c.264+13dup Single submitter early-infantile DEE
c.265-2141G>A Single submitter
c.2946+112dup Single submitter
c.2946+120del Single submitter
c.2946+162_2946+165del Single submitter
c.2947-4del Single submitter early-infantile DEE
c.383+185T>C Single submitter
c.383+335G>A Single submitter
c.473+164G>A Single submitter
c.474-113T>C Single submitter
c.474-17del Single submitter early-infantile DEE
c.474-310A>G Single submitter
c.602+269CA[3] Single submitter
c.694+224dup Single submitter
c.694+227_694+228dup Single submitter
c.694+227dup Single submitter
c.694+232_694+233insA Single submitter
c.964+104_964+110del Single submitter
c.965-215T>C Single submitter
c.965-310G>C Single submitter
p.Arg501= Single submitter early-infantile DEE
p.Asp518Glu Single submitter early-infantile DEE
p.Lys503= Single submitter early-infantile DEE

Benign/Likely benign 26

c.1171-10_1171-9del Multiple submitters early-infantile DEE
c.1662+9C>A Multiple submitters early-infantile DEE
c.2044-5del Multiple submitters early-infantile DEE
c.2177-10C>T Multiple submitters early-infantile DEE
c.2177-11del Multiple submitters
c.2416-4T>G Multiple submitters early-infantile DEE
c.2589+16_2589+19del Multiple submitters
c.2589+17_2589+19del Multiple submitters
c.265-4A>G Multiple submitters Inborn genetic diseases
c.2946+19T>C Multiple submitters early-infantile DEE
c.602+6_602+7dup Multiple submitters early-infantile DEE
p.Ala23= Multiple submitters early-infantile DEE
p.Ala23Val Multiple submitters early-infantile DEE ⚠
p.Ala924Thr Multiple submitters early-infantile DEE
p.Ala963= Multiple submitters Inborn genetic diseases
p.Arg542= Multiple submitters early-infantile DEE
p.Arg604His Multiple submitters Inborn genetic diseases ⚠
p.Asn115= Multiple submitters Inborn genetic diseases
p.Glu513= Multiple submitters early-infantile DEE
p.Gly355= Multiple submitters early-infantile DEE
p.Leu186= Multiple submitters early-infantile DEE
p.Leu746= Multiple submitters early-infantile DEE
p.Phe807= Multiple submitters early-infantile DEE
p.Pro282= Multiple submitters early-infantile DEE
p.Ser470= Multiple submitters early-infantile DEE
p.Val764= Multiple submitters early-infantile DEE

Likely benign 400

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg28His Expert panel generalized epilepsy with febrile seizures plus ⚠
p.Arg500Trp Expert panel complex neurodevelopmental disorder
p.Arg560Cys Expert panel generalized epilepsy with febrile seizures plus ⚠
p.Gly908Ser Expert panel Dravet syndrome
c.1029-11C>G Multiple submitters early-infantile DEE
c.1170+16C>T Multiple submitters early-infantile DEE
c.1171-19C>A Multiple submitters early-infantile DEE
c.1377+16C>T Multiple submitters early-infantile DEE
c.2043+9G>A Multiple submitters early-infantile DEE
c.2176+44C>T Multiple submitters
c.2415+9A>G Multiple submitters Dravet syndrome
c.2416-17T>C Multiple submitters early-infantile DEE
c.265-14T>C Multiple submitters early-infantile DEE
c.2946+77A>G Multiple submitters
c.2947-12G>A Multiple submitters early-infantile DEE
c.2947-20A>C Multiple submitters early-infantile DEE
c.2947-7T>G Multiple submitters early-infantile DEE
c.383+7T>C Multiple submitters early-infantile DEE
c.384-21T>A Multiple submitters Inborn genetic diseases
c.603-20G>A Multiple submitters early-infantile DEE
c.694+9A>G Multiple submitters early-infantile DEE
c.695-18T>C Multiple submitters early-infantile DEE
c.964+11T>C Multiple submitters early-infantile DEE
c.965-20G>A Multiple submitters early-infantile DEE
p.Ala24= Multiple submitters Inborn genetic diseases
p.Ala637= Multiple submitters early-infantile DEE
p.Ala905= Multiple submitters early-infantile DEE
p.Ala966= Multiple submitters early-infantile DEE
p.Arg504= Multiple submitters early-infantile DEE
p.Arg627= Multiple submitters early-infantile DEE
p.Arg693Met Multiple submitters early-infantile DEE
p.Arg859= Multiple submitters early-infantile DEE
p.Asn299Asp Multiple submitters early-infantile DEE
p.Asn569= Multiple submitters early-infantile DEE
p.Asn781= Multiple submitters early-infantile DEE
p.Asp44= Multiple submitters Inborn genetic diseases
p.Asp516= Multiple submitters early-infantile DEE
p.Asp79= Multiple submitters
p.Cys959= Multiple submitters early-infantile DEE
p.Glu2= Multiple submitters early-infantile DEE
p.Gly561= Multiple submitters early-infantile DEE
p.His290= Multiple submitters early-infantile DEE
p.His614= Multiple submitters early-infantile DEE
p.His698= Multiple submitters early-infantile DEE
p.Ile774= Multiple submitters early-infantile DEE
p.Leu215= Multiple submitters early-infantile DEE
p.Leu224= Multiple submitters early-infantile DEE
p.Leu287= Multiple submitters early-infantile DEE
p.Leu409= Multiple submitters early-infantile DEE
p.Leu6= Multiple submitters early-infantile DEE
p.Leu632Gln Multiple submitters early-infantile DEE
p.Leu817= Multiple submitters early-infantile DEE
p.Leu849= Multiple submitters early-infantile DEE
p.Leu864= Multiple submitters
p.Phe590= Multiple submitters Inborn genetic diseases
p.Phe609= Multiple submitters early-infantile DEE
p.Phe937= Multiple submitters early-infantile DEE
p.Pro660= Multiple submitters early-infantile DEE
p.Pro76= Multiple submitters early-infantile DEE
p.Ser259= Multiple submitters early-infantile DEE
p.Ser480= Multiple submitters early-infantile DEE
p.Ser570= Multiple submitters early-infantile DEE
p.Thr226= Multiple submitters early-infantile DEE
p.Thr391= Multiple submitters early-infantile DEE
p.Thr463Met Multiple submitters early-infantile DEE
p.Thr644= Multiple submitters early-infantile DEE
p.Thr793Met Multiple submitters early-infantile DEE
p.Thr841= Multiple submitters early-infantile DEE
p.Tyr360= Multiple submitters early-infantile DEE
p.Tyr426= Multiple submitters early-infantile DEE
p.Val143= Multiple submitters early-infantile DEE
p.Val255= Multiple submitters early-infantile DEE
p.Val887= Multiple submitters early-infantile DEE
p.Val907= Multiple submitters early-infantile DEE
c.1028+13T>A Single submitter early-infantile DEE
c.1028+13T>G Single submitter early-infantile DEE
c.1028+15T>A Single submitter early-infantile DEE
c.1028+35T>C Single submitter
c.1029-15T>C Single submitter early-infantile DEE
c.1029-4G>A Single submitter early-infantile DEE
c.1029-4G>T Single submitter early-infantile DEE
c.1029-7C>A Single submitter early-infantile DEE
c.1170+9T>C Single submitter early-infantile DEE
c.1171-132del Single submitter
c.1171-18T>A Single submitter early-infantile DEE
c.1171-20T>C Single submitter early-infantile DEE
c.1171-20T>G Single submitter early-infantile DEE
c.1171-25A>G Single submitter
c.1171-4G>A Single submitter early-infantile DEE
c.1171-8G>C Single submitter early-infantile DEE
c.1377+12C>T Single submitter early-infantile DEE
c.1377+20T>C Single submitter early-infantile DEE
c.1377+9G>T Single submitter early-infantile DEE
c.1378-10T>C Single submitter early-infantile DEE
c.1378-153_1378-152del Single submitter
c.1378-18C>A Single submitter early-infantile DEE
c.1378-20A>G Single submitter early-infantile DEE
c.1378-6A>G Single submitter
c.1378-7A>T Single submitter early-infantile DEE
c.1663-12del Single submitter early-infantile DEE
c.1663-15C>A Single submitter early-infantile DEE
c.1663-17C>T Single submitter early-infantile DEE
c.1663-18G>A Single submitter early-infantile DEE
c.1663-278C>T Single submitter
c.1663-4C>G Single submitter early-infantile DEE
c.2043+16_2043+21del Single submitter early-infantile DEE
c.2043+20T>A Single submitter early-infantile DEE
c.2043+7A>C Single submitter early-infantile DEE
c.2044-12T>C Single submitter early-infantile DEE
c.2044-4A>T Single submitter early-infantile DEE
c.2044-4dup Single submitter early-infantile DEE
c.2176+9C>A Single submitter early-infantile DEE
c.2177-10dup Single submitter early-infantile DEE
c.2177-12_2177-11insC Single submitter
c.2177-12_2177-11insTC Single submitter early-infantile DEE
c.2177-12T>C Single submitter early-infantile DEE
c.2177-14_2177-13insC Single submitter early-infantile DEE
c.2177-14T>C Single submitter early-infantile DEE
c.2177-15_2177-14insC Single submitter early-infantile DEE
c.2177-19_2177-18insTG Single submitter early-infantile DEE
c.2177-43G>A Single submitter
c.2177-7A>T Single submitter
c.2177-8dup Single submitter
c.2415+11T>C Single submitter early-infantile DEE
c.2415+18T>C Single submitter
c.2415+19A>C Single submitter early-infantile DEE
c.2415+20A>C Single submitter early-infantile DEE
c.2415+20A>G Single submitter early-infantile DEE
c.2415+38A>G Single submitter
c.2416-12T>C Single submitter early-infantile DEE
c.2416-13G>A Single submitter early-infantile DEE
c.2589+12_2589+13insC Single submitter early-infantile DEE
c.2589+15_2589+19del Single submitter
c.2589+17_2589+18insAAC Single submitter early-infantile DEE
c.2589+17A>C Single submitter early-infantile DEE
c.2589+18_2589+20del Single submitter early-infantile DEE
c.2589+19_2589+20del Single submitter early-infantile DEE
c.2589+19del Single submitter
c.2589+19dup Single submitter
c.2589+9A>G Single submitter early-infantile DEE
c.2590-11T>A Single submitter
c.2590-227A>G Single submitter
c.2590-24_2590-19del Single submitter early-infantile DEE
c.2590-26AT[3] Single submitter early-infantile DEE
c.264+12T>C Single submitter early-infantile DEE
c.264+20C>T Single submitter early-infantile DEE
c.264+8T>G Single submitter early-infantile DEE
c.265-20G>T Single submitter early-infantile DEE
c.265-2137C>T Single submitter
c.265-226T>C Single submitter
c.265-6_265-5insTG Single submitter early-infantile DEE
c.265-7C>T Single submitter early-infantile DEE
c.265-9G>A Single submitter early-infantile DEE
c.2946+10C>T Single submitter
c.2946+9C>A Single submitter
c.2946+9C>G Single submitter early-infantile DEE
c.2947-125G>T Single submitter
c.2947-12del Single submitter early-infantile DEE
c.2947-9G>T Single submitter
c.383+13A>T Single submitter early-infantile DEE
c.384-10_384-5del Single submitter early-infantile DEE
c.384-15T>C Single submitter early-infantile DEE
c.384-16C>T Single submitter early-infantile DEE
c.384-19T>C Single submitter early-infantile DEE
c.384-3T>C Single submitter early-infantile DEE
c.384-5C>A Single submitter early-infantile DEE
c.384-8T>A Single submitter early-infantile DEE
c.4003-14C>T Single submitter Dravet syndrome
c.473+11C>T Single submitter early-infantile DEE
c.473+14A>G Single submitter early-infantile DEE
c.473+17T>C Single submitter early-infantile DEE
c.473+9A>C Single submitter early-infantile DEE
c.474-10T>C Single submitter early-infantile DEE
c.474-13T>A Single submitter
c.474-15G>C Single submitter early-infantile DEE
c.474-15G>T Single submitter early-infantile DEE
c.474-16G>C Single submitter early-infantile DEE
c.474-333T>G Single submitter
c.602+11T>C Single submitter early-infantile DEE
c.602+7G>A Single submitter
c.603-12_603-11insTA Single submitter early-infantile DEE
c.603-12T>G Single submitter early-infantile DEE
c.603-143G>A Single submitter
c.603-18G>A Single submitter early-infantile DEE
c.603-23TG[3] Single submitter early-infantile DEE
c.603-6T>C Single submitter early-infantile DEE
c.603-8T>C Single submitter early-infantile DEE
c.694+16G>C Single submitter early-infantile DEE
c.694+17A>G Single submitter early-infantile DEE
c.694+18T>C Single submitter early-infantile DEE
c.694+19_694+21del Single submitter early-infantile DEE
c.694+7G>A Single submitter early-infantile DEE
c.695-10T>C Single submitter
c.695-11C>T Single submitter
c.964+10_964+12del Single submitter early-infantile DEE
c.964+185T>A Single submitter
c.965-12T>G Single submitter early-infantile DEE
c.965-15T>C Single submitter early-infantile DEE
p.Ala1015= Single submitter early-infantile DEE
p.Ala104= Single submitter early-infantile DEE
p.Ala214= Single submitter early-infantile DEE
p.Ala239= Single submitter early-infantile DEE
p.Ala34= Single submitter early-infantile DEE
p.Ala394= Single submitter
p.Ala425= Single submitter
p.Ala442= Single submitter early-infantile DEE
p.Ala464Pro Single submitter early-infantile DEE
p.Ala486= Single submitter early-infantile DEE
p.Ala591= Single submitter early-infantile DEE
p.Ala889= Single submitter early-infantile DEE
p.Ala98= Single submitter early-infantile DEE
p.Arg101= Single submitter early-infantile DEE
p.Arg1018= Single submitter early-infantile DEE
p.Arg118= Single submitter early-infantile DEE
p.Arg176= Single submitter early-infantile DEE
p.Arg216= Single submitter early-infantile DEE
p.Arg28= Single submitter early-infantile DEE
p.Arg500= Single submitter early-infantile DEE
p.Arg580= Single submitter early-infantile DEE
p.Arg605= Single submitter early-infantile DEE
p.Arg612Gln Single submitter early-infantile DEE
p.Arg613= Single submitter early-infantile DEE
p.Arg630Trp Single submitter early-infantile DEE
p.Arg865= Single submitter early-infantile DEE
p.Asn149= Single submitter early-infantile DEE
p.Asn211= Single submitter
p.Asn272= Single submitter early-infantile DEE
p.Asn301= Single submitter early-infantile DEE
p.Asn36= Single submitter early-infantile DEE
p.Asn416= Single submitter early-infantile DEE
p.Asn47= Single submitter early-infantile DEE
p.Asn588= Single submitter early-infantile DEE
p.Asn60= Single submitter early-infantile DEE
p.Asn619= Single submitter early-infantile DEE
p.Asn722= Single submitter early-infantile DEE
p.Asn762His Single submitter early-infantile DEE
p.Asn797= Single submitter early-infantile DEE
p.Asn804= Single submitter early-infantile DEE
p.Asn833= Single submitter early-infantile DEE
p.Asn851Asp Single submitter early-infantile DEE
p.Asn877= Single submitter early-infantile DEE
p.Asn885= Single submitter early-infantile DEE
p.Asp1006= Single submitter early-infantile DEE
p.Asp1017= Single submitter early-infantile DEE
p.Asp152= Single submitter developmental and epileptic encephalopathy
p.Asp182= Single submitter early-infantile DEE
p.Asp194= Single submitter early-infantile DEE
p.Asp249= Single submitter early-infantile DEE
p.Asp320Asn Single submitter early-infantile DEE
p.Asp366= Single submitter
p.Asp45Glu Single submitter early-infantile DEE
p.Asp518= Single submitter
p.Asp589= Single submitter early-infantile DEE
p.Asp67= Single submitter
p.Asp679= Single submitter early-infantile DEE
p.Asp767= Single submitter early-infantile DEE
p.Asp918= Single submitter early-infantile DEE
p.Cys277= Single submitter early-infantile DEE
p.Cys734= Single submitter early-infantile DEE
p.Cys777= Single submitter early-infantile DEE
p.Cys919= Single submitter early-infantile DEE
p.Gln279= Single submitter early-infantile DEE
p.Gln344= Single submitter early-infantile DEE
p.Gln439= Single submitter early-infantile DEE
p.Gln450= Single submitter early-infantile DEE
p.Gln509= Single submitter early-infantile DEE
p.Gln624= Single submitter early-infantile DEE
p.Gln709= Single submitter early-infantile DEE
p.Gln910= Single submitter early-infantile DEE
p.Gln928= Single submitter early-infantile DEE
p.Glu311Gly Single submitter early-infantile DEE
p.Glu328= Single submitter early-infantile DEE
p.Glu438= Single submitter early-infantile DEE
p.Glu517Gly Single submitter early-infantile DEE
p.Glu602= Single submitter early-infantile DEE
p.Glu78= Single submitter early-infantile DEE
p.Glu788= Single submitter early-infantile DEE
p.Glu961= Single submitter early-infantile DEE
p.Gly1022= Single submitter early-infantile DEE
p.Gly177= Single submitter early-infantile DEE
p.Gly232= Single submitter early-infantile DEE
p.Gly265= Single submitter early-infantile DEE
p.Gly348= Single submitter early-infantile DEE
p.Gly410= Single submitter early-infantile DEE
p.Gly477= Single submitter early-infantile DEE
p.Gly512= Single submitter early-infantile DEE
p.Gly540= Single submitter early-infantile DEE
p.Gly585= Single submitter early-infantile DEE
p.Gly585Ala Single submitter migraine, familial hemiplegic, 3 ⚠
p.Gly615= Single submitter early-infantile DEE
p.Gly809= Single submitter early-infantile DEE
p.Gly837= Single submitter early-infantile DEE
p.His795= Single submitter early-infantile DEE
p.Ile122= Single submitter early-infantile DEE
p.Ile134= Single submitter early-infantile DEE
p.Ile174= Single submitter early-infantile DEE
p.Ile25= Single submitter early-infantile DEE
p.Ile448= Single submitter early-infantile DEE
p.Ile529= Single submitter early-infantile DEE
p.Ile538Thr Single submitter early-infantile DEE

Uncertain significance 784

Showing the top 300 by review status; the full set is in the sitemap.

c.1170+5G>C Expert panel complex neurodevelopmental disorder
p.Leu981Ile Expert panel generalized epilepsy with febrile seizures plus ⚠
c.1028+5G>C Multiple submitters Seizure
c.1029-10C>A Multiple submitters early-infantile DEE
c.1029-3C>T Multiple submitters early-infantile DEE
c.1170+5G>T Multiple submitters migraine, familial hemiplegic, 3
c.1377+3A>G Multiple submitters SCN1A-related disorder
c.2044-20_2051dup Multiple submitters developmental and epileptic encephalopathy 6B
c.2415+3A>G Multiple submitters generalized epilepsy with febrile seizures plus, type 2
c.2416-10T>G Multiple submitters developmental and epileptic encephalopathy
c.264+3G>A Multiple submitters early-infantile DEE
c.265-3C>T Multiple submitters early-infantile DEE
c.2946+4T>G Multiple submitters early-infantile DEE
c.384-9A>G Multiple submitters early-infantile DEE
p.Ala23Glu Multiple submitters early-infantile DEE ⚠
p.Ala24Gly Multiple submitters early-infantile DEE ⚠
p.Ala425Val Multiple submitters early-infantile DEE ⚠
p.Ala442_Glu443del Multiple submitters early-infantile DEE
p.Ala476Thr Multiple submitters early-infantile DEE ⚠
p.Ala813Thr Multiple submitters early-infantile DEE ⚠
p.Ala850Thr Multiple submitters early-infantile DEE
p.Ala98Val Multiple submitters early-infantile DEE ⚠
p.Arg1384Lys Multiple submitters Dravet syndrome ⚠
p.Arg187Gln Multiple submitters early-infantile DEE ⚠
p.Arg187Trp Multiple submitters early-infantile DEE ⚠
p.Arg1928His Multiple submitters early-infantile DEE ⚠
p.Arg274Lys Multiple submitters early-infantile DEE ⚠
p.Arg322Gly Multiple submitters ⚠
p.Arg356Gly Multiple submitters Clinodactyly ⚠
p.Arg560His Multiple submitters early-infantile DEE ⚠
p.Arg571Lys Multiple submitters early-infantile DEE ⚠
p.Arg580Gly Multiple submitters ⚠
p.Arg604Cys Multiple submitters early-infantile DEE ⚠
p.Arg617Gly Multiple submitters early-infantile DEE ⚠
p.Arg617Lys Multiple submitters early-infantile DEE ⚠
p.Asn156Lys Multiple submitters early-infantile DEE ⚠
p.Asn301Asp Multiple submitters early-infantile DEE ⚠
p.Asn306His Multiple submitters ⚠
p.Asn306Lys Multiple submitters early-infantile DEE ⚠
p.Asn47Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn541Ser Multiple submitters early-infantile DEE ⚠
p.Asn569Ser Multiple submitters early-infantile DEE ⚠
p.Asn743Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn851Ser Multiple submitters early-infantile DEE ⚠
p.Asn86Ser Multiple submitters early-infantile DEE ⚠
p.Asn892Ser Multiple submitters early-infantile DEE ⚠
p.Asn999Lys Multiple submitters early-infantile DEE ⚠
p.Asp1006Glu Multiple submitters early-infantile DEE
p.Asp313His Multiple submitters Inborn genetic diseases ⚠
p.Asp320Tyr Multiple submitters early-infantile DEE ⚠
p.Asp332Gly Multiple submitters early-infantile DEE ⚠
p.Asp45Gly Multiple submitters early-infantile DEE ⚠
p.Asp527Asn Multiple submitters early-infantile DEE ⚠
p.Asp606Gly Multiple submitters early-infantile DEE ⚠
p.Asp606Val Multiple submitters early-infantile DEE ⚠
p.Asp749Glu Multiple submitters early-infantile DEE ⚠
p.Asp794Asn Multiple submitters early-infantile DEE ⚠
p.Asp823Gly Multiple submitters early-infantile DEE ⚠
p.Asp836Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys136Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys142Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys734Tyr Multiple submitters early-infantile DEE ⚠
p.Cys750Ser Multiple submitters early-infantile DEE ⚠
p.Cys777Tyr Multiple submitters early-infantile DEE ⚠
p.Gln381Lys Multiple submitters early-infantile DEE ⚠
p.Gln454Lys Multiple submitters early-infantile DEE ⚠
p.Gln829Arg Multiple submitters early-infantile DEE ⚠
p.Gln829Leu Multiple submitters SCN1A-related disorder ⚠
p.Glu181Gly Multiple submitters early-infantile DEE ⚠
p.Glu288Gln Multiple submitters early-infantile DEE ⚠
p.Glu347Gly Multiple submitters early-infantile DEE ⚠
p.Glu438Gly Multiple submitters early-infantile DEE ⚠
p.Glu443Lys Multiple submitters early-infantile DEE
p.Glu456Gln Multiple submitters early-infantile DEE ⚠
p.Glu46Lys Multiple submitters early-infantile DEE ⚠
p.Glu496Gly Multiple submitters early-infantile DEE ⚠
p.Glu729Lys Multiple submitters early-infantile DEE ⚠
p.Gly1470Glu Multiple submitters developmental and epileptic encephalopathy ⚠
p.Gly232Asp Multiple submitters early-infantile DEE ⚠
p.Gly585Arg Multiple submitters early-infantile DEE ⚠
p.Gly656Val Multiple submitters early-infantile DEE ⚠
p.Gly682Arg Multiple submitters Dravet syndrome
p.Gly913Arg Multiple submitters early-infantile DEE ⚠
p.His1020Asp Multiple submitters early-infantile DEE ⚠
p.His1217Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 2 ⚠
p.His795Gln Multiple submitters early-infantile DEE ⚠
p.Ile122Val Multiple submitters early-infantile DEE ⚠
p.Ile1955Val Multiple submitters early-infantile DEE ⚠
p.Ile1961Thr Multiple submitters early-infantile DEE ⚠
p.Ile264Thr Multiple submitters early-infantile DEE ⚠
p.Ile29Thr Multiple submitters early-infantile DEE ⚠
p.Ile29Val Multiple submitters Inborn genetic diseases ⚠
p.Ile305Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ile401Val Multiple submitters generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ile407Thr Multiple submitters early-infantile DEE ⚠
p.Ile418Thr Multiple submitters early-infantile DEE ⚠
p.Ile448Thr Multiple submitters SCN1A-related disorder ⚠
p.Ile559Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile672Thr Multiple submitters early-infantile DEE
p.Ile719Asn Multiple submitters early-infantile DEE ⚠
p.Ile820Thr Multiple submitters early-infantile DEE ⚠
p.Ile923Val Multiple submitters early-infantile DEE ⚠
p.Leu409Ser Multiple submitters ⚠
p.Leu479Pro Multiple submitters early-infantile DEE ⚠
p.Leu556Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu704Pro Multiple submitters early-infantile DEE ⚠
p.Leu80Val Multiple submitters early-infantile DEE ⚠
p.Leu864Met Multiple submitters early-infantile DEE ⚠
p.Lys234Glu Multiple submitters early-infantile DEE ⚠
p.Lys33Glu Multiple submitters early-infantile DEE ⚠
p.Lys495Asn Multiple submitters early-infantile DEE ⚠
p.Lys640Asn Multiple submitters early-infantile DEE ⚠
p.Lys740Ile Multiple submitters early-infantile DEE ⚠
p.Lys756Glu Multiple submitters early-infantile DEE ⚠
p.Met1009Ile Multiple submitters early-infantile DEE
p.Met147Ile Multiple submitters early-infantile DEE ⚠
p.Met270Val Multiple submitters early-infantile DEE ⚠
p.Met350Lys Multiple submitters Inborn genetic diseases ⚠
p.Met350Thr Multiple submitters early-infantile DEE ⚠
p.Met447Val Multiple submitters early-infantile DEE
p.Met701Arg Multiple submitters early-infantile DEE ⚠
p.Met72Thr Multiple submitters early-infantile DEE ⚠
p.Met766Arg Multiple submitters early-infantile DEE ⚠
p.Met973Val Multiple submitters early-infantile DEE ⚠
p.Phe185Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe635Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe745Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Phe835Ser Multiple submitters early-infantile DEE ⚠
p.Phe867Leu Multiple submitters early-infantile DEE ⚠
p.Pro116Leu Multiple submitters Dravet syndrome ⚠
p.Pro11His Multiple submitters early-infantile DEE ⚠
p.Pro151Leu Multiple submitters early-infantile DEE ⚠
p.Pro189Ala Multiple submitters early-infantile DEE ⚠
p.Pro37His Multiple submitters Inborn genetic diseases ⚠
p.Pro473His Multiple submitters early-infantile DEE ⚠
p.Pro566Ser Multiple submitters ⚠
p.Pro669Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro69Ser Multiple submitters early-infantile DEE ⚠
p.Pro735Ala Multiple submitters early-infantile DEE ⚠
p.Pro791Gln Multiple submitters early-infantile DEE ⚠
p.Pro82Ser Multiple submitters early-infantile DEE ⚠
p.Ser1858Ile Multiple submitters Dravet syndrome ⚠
p.Ser493Arg Multiple submitters early-infantile DEE ⚠
p.Ser523Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser525Pro Multiple submitters early-infantile DEE ⚠
p.Ser525Thr Multiple submitters early-infantile DEE ⚠
p.Ser565Leu Multiple submitters early-infantile DEE ⚠
p.Ser576Asn Multiple submitters early-infantile DEE
p.Ser586Phe Multiple submitters early-infantile DEE ⚠
p.Ser596del Multiple submitters early-infantile DEE
p.Ser607Thr Multiple submitters early-infantile DEE ⚠
p.Ser623Arg Multiple submitters early-infantile DEE ⚠
p.Ser628Thr Multiple submitters early-infantile DEE ⚠
p.Ser915Asn Multiple submitters early-infantile DEE ⚠
p.Thr1003Ile Multiple submitters Inborn genetic diseases
p.Thr1003Ser Multiple submitters developmental and epileptic encephalopathy 6B ⚠
p.Thr105Asn Multiple submitters early-infantile DEE ⚠
p.Thr140Ala Multiple submitters early-infantile DEE ⚠
p.Thr184Ser Multiple submitters Dravet syndrome ⚠
p.Thr367Ile Multiple submitters early-infantile DEE ⚠
p.Thr684Ile Multiple submitters early-infantile DEE ⚠
p.Thr808Pro Multiple submitters early-infantile DEE ⚠
p.Thr894Asn Multiple submitters early-infantile DEE ⚠
p.Thr89Ile Multiple submitters early-infantile DEE ⚠
p.Trp192Arg Multiple submitters early-infantile DEE ⚠
p.Tyr545Asp Multiple submitters generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Tyr753His Multiple submitters early-infantile DEE ⚠
p.Tyr825Ser Multiple submitters early-infantile DEE ⚠
p.Tyr826Cys Multiple submitters early-infantile DEE ⚠
p.Val126Ile Multiple submitters early-infantile DEE ⚠
p.Val143Met Multiple submitters ⚠
p.Val203Ile Multiple submitters early-infantile DEE ⚠
p.Val229Ala Multiple submitters early-infantile DEE ⚠
p.Val309_Phe310del Multiple submitters early-infantile DEE
p.Val352Met Multiple submitters early-infantile DEE ⚠
p.Val654Ala Multiple submitters Inborn genetic diseases ⚠
p.Val671Leu Multiple submitters early-infantile DEE ⚠
p.Val724Ile Multiple submitters Inborn genetic diseases ⚠
p.Val73Leu Multiple submitters early-infantile DEE ⚠
p.Val765Ala Multiple submitters early-infantile DEE ⚠
p.Val802Ile Multiple submitters early-infantile DEE ⚠
p.Val901Ile Multiple submitters early-infantile DEE
c.1028+6T>C Single submitter early-infantile DEE
c.1029-5T>A Single submitter SCN1A-related disorder
c.1029-5T>G Single submitter early-infantile DEE
c.1029-6T>C Single submitter
c.1170+3_1170+4delinsTT Single submitter early-infantile DEE
c.1170+3G>A Single submitter early-infantile DEE
c.1171-3C>T Single submitter early-infantile DEE
c.1377+20_1377+21delinsAT Single submitter early-infantile DEE
c.1377+3A>C Single submitter early-infantile DEE
c.1377+4A>C Single submitter
c.1377+6G>T Single submitter early-infantile DEE
c.1378-12_1378-8del Single submitter early-infantile DEE
c.1378-4dup Single submitter early-infantile DEE
c.1662+7C>G Single submitter
c.1663-19_1663-5del Single submitter early-infantile DEE
c.2043+6_2043+9del Single submitter
c.2167_2176+13dup Single submitter early-infantile DEE
c.2177-10_2177-9insA Single submitter migraine, familial hemiplegic, 3
c.2177-2A>T Single submitter Dravet syndrome
c.2177-4C>A Single submitter Inborn genetic diseases
c.2177-6A>G Single submitter
c.2415+16G>A Single submitter early-infantile DEE
c.2415+3_2415+24del Single submitter early-infantile DEE
c.2415+5G>A Single submitter early-infantile DEE
c.2415+7del Single submitter early-infantile DEE
c.2416-3T>A Single submitter
c.2416-6T>G Single submitter early-infantile DEE
c.2589+7A>G Single submitter early-infantile DEE
c.264+4A>T Single submitter
c.264+4del Single submitter early-infantile DEE
c.264+6T>A Single submitter
c.265-6T>G Single submitter Dravet syndrome
c.2946+4T>A Single submitter early-infantile DEE
c.2946+5G>T Single submitter generalized epilepsy with febrile seizures plus, type 2
c.2947-10T>A Single submitter early-infantile DEE
c.383+4T>C Single submitter Dravet syndrome
c.384-18T>C Single submitter
c.384-3T>G Single submitter early-infantile DEE
c.384-6A>G Single submitter
c.4002+2543A>G Single submitter Dravet syndrome
c.4003-603T>C Single submitter Dravet syndrome
c.4338+5G>C Single submitter Dravet syndrome
c.474-32_474-23del Single submitter
c.602+5G>A Single submitter early-infantile DEE
c.603-17_603-12delinsACGTA Single submitter early-infantile DEE
c.603-3C>A Single submitter early-infantile DEE
c.603-3C>G Single submitter Dravet syndrome
c.694+3G>A Single submitter early-infantile DEE
c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA Single submitter early-infantile DEE
c.964+4A>G Single submitter
c.964+4A>T Single submitter early-infantile DEE
c.964+5G>T Single submitter
c.965-3C>A Single submitter early-infantile DEE
c.965-480T>C Single submitter
c.-142G>A Single submitter migraine, familial hemiplegic, 3
c.-49-1G>C Single submitter developmental and epileptic encephalopathy 6B
p.974MV[1] Single submitter
p.Ala1001Val Single submitter ⚠
p.Ala1015Thr Single submitter early-infantile DEE ⚠
p.Ala107Ser Single submitter early-infantile DEE ⚠
p.Ala107Val Single submitter ⚠
p.Ala2006Thr Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Ala201= Single submitter early-infantile DEE
p.Ala214Thr Single submitter early-infantile DEE ⚠
p.Ala24Pro Single submitter ⚠
p.Ala285Ser Single submitter early-infantile DEE ⚠
p.Ala285Val Single submitter ⚠
p.Ala30Gly Single submitter Inborn genetic diseases ⚠
p.Ala34Gly Single submitter ⚠
p.Ala34Thr Single submitter early-infantile DEE ⚠
p.Ala354Pro Single submitter developmental and epileptic encephalopathy ⚠
p.Ala394Gly Single submitter early-infantile DEE
p.Ala442Gly Single submitter ⚠
p.Ala461Thr Single submitter early-infantile DEE ⚠
p.Ala466Pro Single submitter ⚠
p.Ala466Thr Single submitter early-infantile DEE ⚠
p.Ala475Leu Single submitter generalized epilepsy with febrile seizures plus, type 2
p.Ala591Thr Single submitter early-infantile DEE ⚠
p.Ala633Thr Single submitter ⚠
p.Ala633Val Single submitter Dravet syndrome ⚠
p.Ala713Thr Single submitter early-infantile DEE ⚠
p.Ala717Asp Single submitter ⚠
p.Ala717Val Single submitter ⚠
p.Ala813Glu Single submitter early-infantile DEE ⚠
p.Ala821Val Single submitter ⚠
p.Ala870Glu Single submitter early-infantile DEE ⚠
p.Ala870Pro Single submitter early-infantile DEE ⚠
p.Ala870Thr Single submitter early-infantile DEE ⚠
p.Ala870Val Single submitter SCN1A-related disorder ⚠
p.Ala924Val Single submitter early-infantile DEE ⚠
p.Ala963Val Single submitter early-infantile DEE ⚠
p.Ala997Val Single submitter early-infantile DEE
p.Arg1018Lys Single submitter ⚠
p.Arg1642Thr Single submitter generalized epilepsy with febrile seizures plus, type 2 ⚠
p.Arg19Gly Single submitter ⚠
p.Arg19Lys Single submitter early-infantile DEE ⚠
p.Arg216Thr Single submitter early-infantile DEE ⚠
p.Arg219Ser Single submitter ⚠
p.Arg222Gln Single submitter early-infantile DEE ⚠
p.Arg222Gly Single submitter early-infantile DEE ⚠
p.Arg274Thr Single submitter SCN1A-related disorder ⚠
p.Arg28Gly Single submitter ⚠
p.Arg471Gly Single submitter early-infantile DEE ⚠
p.Arg497Lys Single submitter
p.Arg498Thr Single submitter early-infantile DEE ⚠
p.Arg500Pro Single submitter SCN1A-related disorder ⚠
p.Arg504Ile Single submitter early-infantile DEE ⚠
p.Arg504Ser Single submitter early-infantile DEE ⚠
p.Arg504Thr Single submitter ⚠
p.Arg530Gly Single submitter
p.Arg530Met Single submitter early-infantile DEE
p.Arg535Pro Single submitter early-infantile DEE
p.Arg560Gly Single submitter early-infantile DEE ⚠
p.Arg567Lys Single submitter early-infantile DEE ⚠
p.Arg567Thr Single submitter developmental and epileptic encephalopathy 6B ⚠
p.Arg571Thr Single submitter ⚠
p.Arg604Ser Single submitter early-infantile DEE ⚠
p.Arg617Asn Single submitter