Sugi Variant

Sugi Variant/SLC6A1

SLC6A1 — 1022 ClinVar variants

All ClinVar germline SLC6A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 356 flagged for review →

87 Pathogenic · 14 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 57 Conflicting · 70 Benign · 31 Benign/Likely benign · 337 Likely benign · 340 Uncertain significance

Full SLC6A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 356

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 1

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

Predictors agree, ClinVar conflicts 39

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

Predictors lean, ClinVar uncertain 234

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 234

Predictors split 82

The independent predictors disagree with each other — read with care.

All SLC6A1 variants

Pathogenic 87

  • c.1328del Multiple submitters
  • c.1328dup Multiple submitters epilepsy
  • c.1528-1G>A Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala128Val Multiple submitters Seizure
  • p.Ala357Val Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • p.Arg44Gln Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Arg479Ter Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Asn66fs Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gln397Ter Multiple submitters Inborn genetic diseases
  • p.Gln534Ter Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly112_Leu113insTer Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu214fs Multiple submitters Inborn genetic diseases
  • p.Tyr412Ter Multiple submitters Inborn genetic diseases
  • p.Val125Met Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • p.Val342Met Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • p.Val536fs Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1192-1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1323+1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1324-2del Single submitter
  • c.581+1G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.714+2T>G Single submitter epilepsy with myoclonic atonic seizures
  • c.850-1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.850-2A>G Single submitter Inborn genetic diseases
  • c.954-1G>A Single submitter developmental and epileptic encephalopathy 94
  • c.-153_(1078+1_1079-1 Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala221fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala305Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala334Pro Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala358fs Single submitter
  • p.Ala509fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala9fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg419fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg50fs Single submitter
  • p.Asn438Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp52Glu Single submitter ⚠
  • p.Asp52Val Single submitter
  • p.Cys164Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys499Arg Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys74Ter Single submitter
  • p.Gln106Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Gln374Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Gln518Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Glu101Ala Single submitter epilepsy with myoclonic atonic seizures
  • p.Glu101Gly Single submitter epilepsy with myoclonic atonic seizures
  • p.Glu283Ter Single submitter Seizure
  • p.Gly114fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly124Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly533Arg Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu113fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu408Arg Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu408fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Met1Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe336fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe386Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe404fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe53Ser Single submitter
  • p.Phe70fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro247Ala Single submitter
  • p.Pro505Thr Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser145Phe Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser175fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser437fs Single submitter
  • p.Ser456Arg Single submitter epilepsy with myoclonic atonic seizures
  • p.Thr400Ile Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Trp135_Ile141del Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp135Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp168fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp230Ter Single submitter intellectual disability
  • p.Trp235Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp381Ter Single submitter epilepsy
  • p.Trp495Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp500Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Trp538Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Tyr150fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Tyr177Ter Single submitter Inborn genetic diseases
  • p.Tyr248fs Single submitter
  • p.Tyr296Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Tyr368Ter Single submitter Inborn genetic diseases
  • p.Tyr527fs Single submitter
  • p.Tyr86Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Val189fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Val446fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Val571fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Val67Ile Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Glu16Ter No assertion criteria epilepsy with myoclonic atonic seizures
  • p.Gly457fs No assertion criteria epilepsy with myoclonic atonic seizures
  • p.Leu30Ter No assertion criteria epilepsy with myoclonic atonic seizures

Pathogenic/Likely pathogenic 14

  • c.1192-2A>G Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala288Val Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Arg44Trp Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly111Arg Multiple submitters SLC6A1-related disorder
  • p.Gly297Arg Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly307Arg Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly362Arg Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly550Arg Multiple submitters SLC6A1-related disorder
  • p.Gly79Arg Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Phe270Ser Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Phe294del Multiple submitters intellectual disability
  • p.Trp285Ter Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Tyr140Cys Multiple submitters SLC6A1-related disorder
  • p.Val511Met Multiple submitters epilepsy with myoclonic atonic seizures ⚠

Likely pathogenic 86

  • p.Gln106Arg Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly443Asp Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly75Glu Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • p.Gly94Glu Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Val511Leu Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • c.1078+1G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1426+1G>A Single submitter SLC6A1-related disorder
  • c.1427-1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-1G>T Single submitter
  • c.1527+1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1528-1G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1695+1G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.238+1G>T Single submitter
  • c.370+2del Single submitter epilepsy with myoclonic atonic seizures
  • c.370+2T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.471+1G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.472-1G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.715-1G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.715-2A>G Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala288Thr Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala357Glu Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala357Thr Single submitter neurodevelopmental disorder ⚠
  • p.Ala367Thr Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ala81Thr Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg50Leu Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn310Thr Single submitter
  • p.Asn66Asp Single submitter
  • p.Asp43fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys164Tyr Single submitter
  • p.Cys173Tyr Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys228_Ile229del Single submitter Inborn genetic diseases
  • p.Cys228Tyr Single submitter epilepsy with myoclonic atonic seizures
  • p.Gln199Ter Single submitter
  • p.Gln291Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly105Ser Single submitter
  • p.Gly232Val Single submitter SLC6A1-related disorder
  • p.Gly299Val Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly301_Leu303del Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly301Val Single submitter Inborn genetic diseases
  • p.Gly393Ser Single submitter
  • p.Gly443Ser Single submitter
  • p.Gly533Asp Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly59Cys Single submitter SLC6A1-related disorder
  • p.Gly65Asp Single submitter Neurodevelopmental delay
  • p.Gly75Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly75Trp Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly79Val Single submitter
  • p.Ile253fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile268fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile338Phe Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu269Pro Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu363fs Single submitter
  • p.Leu366Pro Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu366Val Single submitter
  • p.Leu436His Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu463Pro Single submitter
  • p.Met121fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Met332fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Met487Thr Single submitter epilepsy with myoclonic atonic seizures
  • p.Met487Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe339del Single submitter Inborn genetic diseases
  • p.Phe386del Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe465Ser Single submitter
  • p.Pro247Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro361Val Single submitter
  • p.Ser280fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser282Phe Single submitter ⚠
  • p.Ser396Arg Single submitter SLC6A1-related disorder
  • p.Ser562fs Single submitter
  • p.Thr170fs Single submitter
  • p.Trp168Cys Single submitter
  • p.Trp532Ter Single submitter SLC6A1-related disorder
  • p.Trp538Arg Single submitter Seizure
  • p.Trp68Ter Single submitter
  • p.Tyr246Ter Single submitter
  • p.Tyr271Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Tyr453Asp Single submitter epilepsy with myoclonic atonic seizures
  • p.Tyr86His Single submitter epilepsy with myoclonic atonic seizures
  • p.Val115fs Single submitter SLC6A1-related disorder
  • p.Val225Leu Single submitter
  • c.-93G>A No assertion criteria epilepsy with myoclonic atonic seizures
  • p.Gly78Cys No assertion criteria epilepsy with myoclonic atonic seizures
  • p.Leu279Pro No assertion criteria epilepsy with myoclonic atonic seizures
  • p.Ser56Phe No assertion criteria Seizure
  • p.Tyr60Ser No assertion criteria epilepsy with myoclonic atonic seizures ⚠

Conflicting classifications of pathogenicity 57

  • c.1427-9A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1528-5T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.371-5C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.582-3C>T Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala289Glu Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ala2Glu Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ala305Thr Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ala334Ser Single submitter SLC6A1-related neurodevelopmental condition
  • p.Ala334Thr Single submitter epilepsy ⚠
  • p.Ala425Val Single submitter SLC6A1-related disorder
  • p.Ala81Asp Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ala93= Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg195Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg277Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg277His Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg417His Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg479Gln Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg50Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg566His Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg579His Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Asn181Lys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Asp165Asn Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Asp202Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp25Glu Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Asp451Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp52Asn Single submitter ⚠
  • p.Asp576Ala Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gln485Glu Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Glu194= Single submitter Inborn genetic diseases
  • p.Gly111Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly11Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly237= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly263Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly442Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly59Asp Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly5Ser Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Gly63Ser Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.His198Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.His198Pro Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ile292Thr Single submitter intellectual disability ⚠
  • p.Leu54Phe Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Lys33Glu Single submitter Inborn genetic diseases ⚠
  • p.Phe51Tyr Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro247Leu Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Pro573Ser Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ser456Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Ser459Arg Single submitter Marfanoid habitus and intellectual disability ⚠
  • p.Ser574Arg Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Thr201Met Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Thr217Met Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Thr46Met Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Thr520Met Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Tyr139Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Tyr140His Single submitter ⚠
  • p.Tyr598Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Val323Ile Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Val337Ile Single submitter epilepsy with myoclonic atonic seizures

Benign 70

Benign/Likely benign 31

  • c.1079-14A>G Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1191+16_1191+17dup Multiple submitters epilepsy with myoclonic atonic seizures
  • c.238+14C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.238+17G>A Multiple submitters epilepsy with myoclonic atonic seizures
  • c.471+6T>C Multiple submitters epilepsy with myoclonic atonic seizures
  • c.715-8C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.849+20C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.953+18C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.953+19G>A Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala2= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala334= Multiple submitters Inborn genetic diseases
  • p.Ala371= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala425= Multiple submitters Inborn genetic diseases
  • p.Arg479= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Asp10= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Cys164= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly267= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile110Val Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile304= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile405Val Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu415Ile Multiple submitters Inborn genetic diseases
  • p.Lys206Glu Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Met179Leu Multiple submitters Inborn genetic diseases
  • p.Phe333= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Pro580Ser Multiple submitters Inborn genetic diseases
  • p.Ser282= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ser295= Multiple submitters Inborn genetic diseases
  • p.Ser320= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Thr46= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Val348= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Val578Ile Multiple submitters epilepsy with myoclonic atonic seizures

Likely benign 337

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

  • c.1191+17C>A Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1191+8_1191+9insA Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1191+9G>C Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1192-98G>A Multiple submitters
  • c.1426+13C>G Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1528-14T>A Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1528-18C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1528-6C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.371-9C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.471+67C>T Multiple submitters
  • c.471+8G>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.581+33C>T Multiple submitters
  • c.582-7T>G Multiple submitters epilepsy with myoclonic atonic seizures
  • c.849+9C>T Multiple submitters epilepsy with myoclonic atonic seizures
  • c.953+21G>T Multiple submitters
  • c.-17C>T Multiple submitters
  • c.-5G>A Multiple submitters Inborn genetic diseases
  • p.Ala128= Multiple submitters Inborn genetic diseases
  • p.Ala357= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala38= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ala9= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Arg195= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Asn24= Multiple submitters Inborn genetic diseases
  • p.Glu266= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Glu467= Multiple submitters Inborn genetic diseases
  • p.Gly124= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly126= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly263= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Gly301= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.His347= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile220= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile322= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile548= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ile91Val Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu118= Multiple submitters Inborn genetic diseases
  • p.Leu127= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu132= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu269= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu306= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu380= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Leu542= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Lys117= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Lys595= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Phe242= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Phe276= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Phe336= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Pro160= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Pro262= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Pro361= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Pro521= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ser103= Multiple submitters Inborn genetic diseases
  • p.Ser352= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Ser574= Multiple submitters Inborn genetic diseases
  • p.Thr15= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Thr201= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Thr260Met Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • p.Thr520= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Tyr296= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Tyr445= Multiple submitters Inborn genetic diseases
  • p.Tyr475= Multiple submitters epilepsy with myoclonic atonic seizures
  • p.Val67= Multiple submitters epilepsy with myoclonic atonic seizures
  • c.1078+15G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1079-12T>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1079-15C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1079-231C>G Single submitter
  • c.1079-6G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+10C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+11C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+11C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+13C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+13C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+15C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+15C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+17C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+17C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+20A>G Single submitter
  • c.1191+7G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+8C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+9del Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+9G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1191+9G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1192-18C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1192-30C>T Single submitter
  • c.1192-5T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1192-6del Single submitter epilepsy with myoclonic atonic seizures
  • c.1192-7C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1323+11T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1323+17C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1323+18C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1323+210A>T Single submitter
  • c.1324-14T>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1324-15C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1324-4G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1324-7C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1324-9A>G Single submitter epilepsy with myoclonic atonic seizures
  • p.Thr46= Single submitter epilepsy with myoclonic atonic seizures
  • c.1426+124A>T Single submitter
  • c.1426+17C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1426+7A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-10_1427-7del Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-11C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-15C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-18C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-18C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-4del Single submitter epilepsy with myoclonic atonic seizures
  • c.1427-8T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+11G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+12G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+16G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+7A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+8C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1527+96G>A Single submitter
  • c.1528-14T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.1528-16C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1528-19T>A Single submitter
  • c.1528-7T>C Single submitter
  • c.1528-8C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.1695+13C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1695+16C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1696-12C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1696-12C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.1696-4A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.1696-7C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.238+15G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.238+18G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.238+7G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.238+8C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.238+9T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.239-13T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.239-18T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.239-6C>T Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu118= Single submitter epilepsy with myoclonic atonic seizures
  • c.370+15C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.370+16A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.370+17G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.370+18G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.370+18G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.371-16dup Single submitter epilepsy with myoclonic atonic seizures
  • c.371-21G>A Single submitter
  • c.371-5C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.371-8G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.371-94C>T Single submitter
  • c.471+11C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.471+14T>A Single submitter epilepsy with myoclonic atonic seizures
  • c.471+78C>G Single submitter
  • c.472-10_472-9del Single submitter epilepsy with myoclonic atonic seizures
  • c.472-10G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.472-170T>C Single submitter
  • c.472-5T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.472-7C>T Single submitter
  • c.472-85T>C Single submitter
  • c.472-8C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.581+12G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.581+18_581+19del Single submitter epilepsy with myoclonic atonic seizures
  • c.581+18A>C Single submitter epilepsy with myoclonic atonic seizures
  • c.582-10G>C Single submitter epilepsy with myoclonic atonic seizures
  • c.582-10G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.582-15C>A Single submitter
  • c.582-9_582-6del Single submitter epilepsy with myoclonic atonic seizures
  • c.714+17C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.714+18A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.715-16C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.715-295A>C Single submitter
  • c.715-7C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.849+10C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.849+8C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.850-18T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.850-19T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.850-4A>G Single submitter epilepsy with myoclonic atonic seizures
  • c.850-5T>C Single submitter epilepsy with myoclonic atonic seizures
  • c.850-7C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.953+12_953+22del Single submitter epilepsy with myoclonic atonic seizures
  • c.953+13A>C Single submitter epilepsy with myoclonic atonic seizures
  • c.953+14G>T Single submitter epilepsy with myoclonic atonic seizures
  • c.953+20G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.953+9G>A Single submitter epilepsy with myoclonic atonic seizures
  • c.954-10C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.954-15C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.954-17C>A Single submitter epilepsy with myoclonic atonic seizures
  • c.954-17C>T Single submitter epilepsy with myoclonic atonic seizures
  • c.954-6C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.954-8C>G Single submitter epilepsy with myoclonic atonic seizures
  • c.954-9T>A Single submitter epilepsy with myoclonic atonic seizures
  • c.-153-168C>G Single submitter
  • c.-153-284A>G Single submitter
  • c.-54G>A Single submitter
  • p.Ala188= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala23= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala244= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala2Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala364= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala407= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala516= Single submitter
  • p.Ala589= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ala597= Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg172Cys Single submitter epilepsy with myoclonic atonic seizures ⚠
  • p.Arg211= Single submitter
  • p.Arg277= Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg277Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg417Cys Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg566= Single submitter epilepsy with myoclonic atonic seizures
  • p.Arg579Cys Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn310Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn315= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn4= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn526= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asn582= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp202= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp25= Single submitter
  • p.Asp355= Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp43Asn Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp43Glu Single submitter epilepsy with myoclonic atonic seizures
  • p.Asp45= Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys228= Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys329= Single submitter epilepsy with myoclonic atonic seizures
  • p.Cys74= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gln106= Single submitter epilepsy with myoclonic atonic seizures
  • p.Glu411= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly111= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly112= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly114= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly203= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly234Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly297= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly360= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly403= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly442= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly49= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly550= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly561= Single submitter epilepsy with myoclonic atonic seizures
  • p.Gly583= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile110= Single submitter Inborn genetic diseases
  • p.Ile141= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile220Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile249= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile268= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile321Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile341= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile377= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile434= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile439= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile506Thr Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile506Val Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile507Thr Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile577= Single submitter
  • p.Ile599= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ile62= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu100= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu151= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu159= Single submitter
  • p.Leu251= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu254= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu261= Single submitter Inborn genetic diseases
  • p.Leu279= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu286= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu366= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu384= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu408= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu416= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu422= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu433= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu460= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu461= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu463= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu498= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu54= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu64= Single submitter epilepsy with myoclonic atonic seizures
  • p.Leu90= Single submitter Inborn genetic diseases
  • p.Leu97= Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys206= Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys265= Single submitter
  • p.Lys33= Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys350= Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys350Asn Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys37Ala Single submitter epilepsy with myoclonic atonic seizures
  • p.Lys48= Single submitter epilepsy with myoclonic atonic seizures
  • p.Met185Leu Single submitter Inborn genetic diseases
  • p.Phe122= Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe344= Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe462= Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe465= Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe53= Single submitter epilepsy with myoclonic atonic seizures
  • p.Phe82= Single submitter
  • p.Pro120= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro262Ser Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro379= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro413= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro42= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro549= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro580= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro584= Single submitter epilepsy with myoclonic atonic seizures
  • p.Pro85= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser187= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser302= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser328= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser387del Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser437= Single submitter
  • p.Ser456= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser490= Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser515= Single submitter

Uncertain significance 340

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