Sugi Variant

Sugi Variant/KCNT1

KCNT1 — 2516 ClinVar variants

All ClinVar germline KCNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 805 flagged for review →

25 Pathogenic · 15 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 176 Conflicting · 141 Benign · 85 Benign/Likely benign · 1043 Likely benign · 996 Uncertain significance

Full KCNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 805

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 7

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

Predictors agree, ClinVar conflicts 81

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

Predictors lean, ClinVar uncertain 497

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 497

Predictors split 220

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 220

All KCNT1 variants

Pathogenic 25

  • p.Ala934Thr Multiple submitters KCNT1-related disorder
  • p.Arg428Gln Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg474Cys Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg928Cys Multiple submitters KCNT1-related disorder
  • p.Arg933Gly Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gly288Ser Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ile760Met Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Met896Lys Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe346Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • c.2943+1G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala934Val Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg262Pro Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg950Leu Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gln270Glu Single submitter ⚠
  • p.Gln906Arg Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ile186del Single submitter
  • p.Leu274Ile Single submitter ⚠
  • p.Met896Arg Single submitter developmental and epileptic encephalopathy, 14
  • p.Phe932Ile Single submitter developmental and epileptic encephalopathy, 14
  • p.Pro924Leu Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser379Asn Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Thr671Ile Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Trp476Arg Single submitter
  • p.Val271Phe Single submitter
  • p.Met896Ile No assertion criteria autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠

Pathogenic/Likely pathogenic 15

  • p.Ala477Thr Multiple submitters Inborn genetic diseases
  • p.Ala934Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala966Thr Multiple submitters malignant migrating partial seizures of infancy
  • p.Arg262Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg356Trp Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg398Gln Multiple submitters KCNT1-related disorder ⚠
  • p.Arg474His Multiple submitters KCNT1-related disorder
  • p.Leu437Phe Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Lys629Glu Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Met267Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met516Val Multiple submitters malignant migrating partial seizures of infancy ⚠
  • p.Met896Val Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro409Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr796His Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn496delinsProGlyProTer Single submitter developmental and epileptic encephalopathy, 14

Likely pathogenic 35

  • p.Asp480Asn Multiple submitters KCNT1-related disorder
  • p.Asp480Gly Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp936Gly Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu893Lys Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gly288Cys Multiple submitters KCNT1-related disorder ⚠
  • c.3178-1G>C Single submitter developmental and epileptic encephalopathy, 14
  • p.Ala259Thr Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala295Val Single submitter Seizure ⚠
  • p.Arg25Trp Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg474Leu Single submitter Inborn genetic diseases
  • p.Asp884Val Single submitter developmental and epileptic encephalopathy, 14
  • p.Gln270Lys Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Glu893Val Single submitter developmental and epileptic encephalopathy, 14
  • p.Gly554Glu Single submitter
  • p.Gly797Val Single submitter developmental and epileptic encephalopathy, 14
  • p.His469Leu Single submitter developmental and epileptic encephalopathy, 14
  • p.His469Pro Single submitter developmental and epileptic encephalopathy, 14
  • p.His499Arg Single submitter
  • p.Ile760Phe Single submitter
  • p.Leu281Ile Single submitter ⚠
  • p.Leu437Ile Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu437Pro Single submitter developmental and epileptic encephalopathy, 14
  • p.Leu781Val Single submitter developmental and epileptic encephalopathy, 14
  • p.Leu942Phe Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Lys629Gln Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Lys947Glu Single submitter malignant migrating partial seizures of infancy
  • p.Met354Arg Single submitter
  • p.Phe502Ser Single submitter developmental and epileptic encephalopathy, 14
  • p.Pro820Leu Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser982Pro Single submitter
  • p.Thr1001Ser Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Trp243Ter Single submitter KCNT1-related disorder
  • p.Tyr938Cys Single submitter Neurodevelopmental delay ⚠
  • p.Val713fs Single submitter developmental and epileptic encephalopathy, 14
  • p.Leu339Arg No assertion criteria developmental and epileptic encephalopathy, 14

Conflicting classifications of pathogenicity 176

  • c.1036-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1338-3C>T Single submitter Inborn genetic diseases
  • c.1402-6C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.1402-8C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+4C>T Single submitter Inborn genetic diseases
  • c.1511-4G>A Single submitter Inborn genetic diseases
  • c.1511-5C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1620-15_1620-5dup Single submitter
  • c.2008+10G>C Single submitter developmental and epileptic encephalopathy, 14
  • c.2009-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2244-10C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2350-40CAGCCCTGACTC[3] Single submitter
  • c.2350-5C>T Single submitter Inborn genetic diseases
  • c.254+10G>C Single submitter developmental and epileptic encephalopathy, 14
  • c.2594+6G>A Single submitter developmental and epileptic encephalopathy, 14
  • c.2595-8G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2595-9C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.2730-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2944-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+19G>A Single submitter developmental and epileptic encephalopathy, 14
  • c.3177+6C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.3178-12_3180dup Single submitter Inborn genetic diseases
  • c.335-5C>T Single submitter Inborn genetic diseases
  • c.3587+13_3587+44del Single submitter developmental and epileptic encephalopathy, 14
  • c.434+15C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.600+9C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.601-4C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.759+6C>T Single submitter developmental and epileptic encephalopathy, 14
  • p.Ala1034Thr Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Ala1058= Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala1083Thr Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Ala1083Val Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala1100Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1100Val Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Ala17Val Single submitter developmental and epileptic encephalopathy, 14
  • p.Ala295= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ala35Val Single submitter Inborn genetic diseases
  • p.Ala467= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ala587Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala774Val Single submitter Inborn genetic diseases ⚠
  • p.Ala965Thr Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg100Gln Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg100Trp Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1020Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1020His Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1073Trp Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1082Cys Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1114Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1114Gly Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1126Trp Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1137Cys Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1143His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1214Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1214Trp Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg258His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg262Trp Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg356Gln Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg37fs Single submitter developmental and epileptic encephalopathy, 14
  • p.Arg474Ser Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg538Cys Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg565His Single submitter Inborn genetic diseases ⚠
  • p.Arg573His Single submitter Inborn genetic diseases ⚠
  • p.Arg600Gln Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg613Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg643Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg643Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg828Cys Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg8Gly Single submitter developmental and epileptic encephalopathy, 14
  • p.Arg910Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg933His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg950Gln Single submitter developmental and epileptic encephalopathy, 14
  • p.Arg961His Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Asn95= Single submitter developmental and epileptic encephalopathy, 14
  • p.Asp384Asn Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asp58Gly Single submitter developmental and epileptic encephalopathy, 14
  • p.Asp734Gly Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp741= Single submitter developmental and epileptic encephalopathy, 14
  • p.Asp741Asn Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Asp843Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys1218Tyr Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Cys14Ser Single submitter developmental and epileptic encephalopathy, 14
  • p.Cys725Ser Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Gln206His Single submitter Inborn genetic diseases ⚠
  • p.Gln33= Single submitter developmental and epileptic encephalopathy, 14
  • p.Gln677Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu1014Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu297Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu576Lys Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Glu655Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu680Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu748Asp Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Glu892Lys Single submitter KCNT1-related disorder ⚠
  • p.Gly1086Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1096Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly1097Ser Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly1166Ser Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly11Glu Single submitter Inborn genetic diseases
  • p.Gly32Cys Single submitter Inborn genetic diseases
  • p.Gly361fs Single submitter Inborn genetic diseases
  • p.Gly51Ala Single submitter developmental and epileptic encephalopathy, 14
  • p.Gly567Val Single submitter Inborn genetic diseases ⚠
  • p.Gly656Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly670= Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly678= Single submitter developmental and epileptic encephalopathy, 14
  • p.Gly687Ser Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly688Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly690= Single submitter Inborn genetic diseases
  • p.Gly691_Gly692del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly6Arg Single submitter Inborn genetic diseases
  • p.His1206Tyr Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.His469Gln Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.His563Tyr Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.His663Arg Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ile1182Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile289= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ile627Val Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Ile665= Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ile666Phe Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Leu136= Single submitter Inborn genetic diseases
  • p.Leu189= Single submitter Inborn genetic diseases
  • p.Leu220Val Single submitter Inborn genetic diseases ⚠
  • p.Leu281Phe Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Leu386Phe Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Leu46Phe Single submitter developmental and epileptic encephalopathy, 14
  • p.Leu714= Single submitter Inborn genetic diseases
  • p.Lys173Arg Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Lys590= Single submitter Inborn genetic diseases
  • p.Met174Ile Single submitter Inborn genetic diseases ⚠
  • p.Met443Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe983= Single submitter developmental and epileptic encephalopathy, 14
  • p.Pro1053His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro1192Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1227Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro2Ala Single submitter Inborn genetic diseases
  • p.Pro409Leu Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Pro4Ser Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro524= Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro546Leu Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Pro683His Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Pro738= Single submitter Inborn genetic diseases
  • p.Ser1032= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser1049del Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser1051= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser1051Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1081Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser1109Asn Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser1217Ile Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser1223Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1224Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser327= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser633= Single submitter developmental and epileptic encephalopathy, 14
  • p.Ser732Leu Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser739= Single submitter Inborn genetic diseases
  • p.Ser937Gly Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Thr1094Arg Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Thr1094Met Single submitter Inborn genetic diseases ⚠
  • p.Thr1188Met Single submitter Inborn genetic diseases ⚠
  • p.Thr314= Single submitter developmental and epileptic encephalopathy, 14
  • p.Thr370= Single submitter developmental and epileptic encephalopathy, 14
  • p.Thr465Met Single submitter Inborn genetic diseases ⚠
  • p.Thr671= Single submitter developmental and epileptic encephalopathy, 14
  • p.Thr684= Single submitter developmental and epileptic encephalopathy, 14
  • p.Thr684Pro Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Tyr1179= Single submitter Inborn genetic diseases
  • p.Val1066Met Single submitter Inborn genetic diseases ⚠
  • p.Val1075Met Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Val1180Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1196= Single submitter developmental and epileptic encephalopathy, 14
  • p.Val213Ile Single submitter developmental and epileptic encephalopathy, 14 ⚠
  • p.Val320Ile Single submitter Inborn genetic diseases ⚠
  • p.Val350Ile Single submitter Inborn genetic diseases ⚠
  • p.Val419= Single submitter developmental and epileptic encephalopathy, 14
  • p.Val507= Single submitter developmental and epileptic encephalopathy, 14
  • p.Val593Met Single submitter Inborn genetic diseases ⚠
  • p.Val662Met Single submitter Inborn genetic diseases ⚠
  • p.Val713Ile Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠

Benign 141

Benign/Likely benign 85

  • c.1036-15G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1200+15C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1201-6C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1337+16C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1619+18C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-10_1620-5dup Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-16C>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-17C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1770-16C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2349+11C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2349+7C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2350-8G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2841+10C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2842-15C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2943+6C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2944-19T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2944-52CTCC[4] Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2944-52CTCC[8] Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2944-52CTCC[9] Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3028-14T>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3157-8C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3178-26GCCCT[2] Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.334+10G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.335-16G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3502+12C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3502+17C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3502+18G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3503-18C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.600+11G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.601-13C>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.676-4A>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.760-19G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.854+10G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.-1C>A Multiple submitters Inborn genetic diseases
  • p.Ala1130Thr Multiple submitters Inborn genetic diseases
  • p.Ala368= Multiple submitters Inborn genetic diseases
  • p.Ala515= Multiple submitters Inborn genetic diseases
  • p.Ala810= Multiple submitters Inborn genetic diseases
  • p.Ala897= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg1092Cys Multiple submitters Inborn genetic diseases
  • p.Arg1106Gln Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1114Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1146His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1230= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg1230His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg474= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg538= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg706= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp1202= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp792= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Cys336= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gln543Arg Multiple submitters Inborn genetic diseases
  • p.Glu1228Lys Multiple submitters Inborn genetic diseases
  • p.Glu1232Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu511= Multiple submitters Inborn genetic diseases
  • p.Glu848Gly Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gly1015= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly1080Val Multiple submitters Inborn genetic diseases
  • p.Gly20Ala Multiple submitters Inborn genetic diseases
  • p.Gly51Arg Multiple submitters Inborn genetic diseases
  • p.Gly542= Multiple submitters Inborn genetic diseases
  • p.Gly592= Multiple submitters Inborn genetic diseases
  • p.Gly873= Multiple submitters Inborn genetic diseases
  • p.His1046= Multiple submitters Inborn genetic diseases
  • p.Ile818= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu1104= Multiple submitters Inborn genetic diseases
  • p.Leu329= Multiple submitters Inborn genetic diseases
  • p.Leu420= Multiple submitters Inborn genetic diseases
  • p.Leu722= Multiple submitters Inborn genetic diseases
  • p.Phe964= Multiple submitters Inborn genetic diseases
  • p.Pro1002= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro1099Ser Multiple submitters Inborn genetic diseases
  • p.Pro1227= Multiple submitters Inborn genetic diseases
  • p.Pro237= Multiple submitters Inborn genetic diseases
  • p.Pro39Leu Multiple submitters Inborn genetic diseases
  • p.Ser111= Multiple submitters Inborn genetic diseases
  • p.Ser745= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1001Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr1013= Multiple submitters Inborn genetic diseases
  • p.Thr1165= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr1229Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr737Met Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr809= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Tyr394= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val378= Multiple submitters Inborn genetic diseases

Likely benign 1043

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

  • c.1035+14G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1036-12T>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+77C>T Multiple submitters
  • c.110+9T>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.111-96G>C Multiple submitters
  • c.1200+16G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1200+68A>G Multiple submitters
  • c.1201-14C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1201-16T>C Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1201-5G>A Multiple submitters Inborn genetic diseases
  • c.1337+17G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1337+7G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1402-5G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1511-12C>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1619+17C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1619+20_1619+27del Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1619+5GTGCCCC[3] Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-12C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1620-15_1620-5del Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-15C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1620-19G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1769+20A>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1769+8C>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.1769+8C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1769+98G>A Multiple submitters
  • c.1770-15G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1770-20T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2008+18C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2008+19G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2008+20C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2008+7C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2008+8G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2008+9G>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2009-39G>A Multiple submitters
  • c.2349+20C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2350-10C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2350-13C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2522+14G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2522+15G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2522+28_2522+36dup Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2523-13G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2523-6C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2523-7C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2523-99C>A Multiple submitters
  • c.254+41C>T Multiple submitters
  • c.254+65G>A Multiple submitters
  • c.255-16CT[2] Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2594+18G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2594+7C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2594+8G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2595-15C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2729+15C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2729+16G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2730-15G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2841+139G>A Multiple submitters
  • c.2841+18G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2842-18G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2943+7G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2944-10_2944-9insTCTCCCTC Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2944-18C>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2944-19_2944-13del Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3027+18_3027+22del Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3027+18C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3027+19G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3027+8C>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3157-17G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3157-20T>C Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3177+129G>A Multiple submitters
  • c.3177+16G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3178-16G>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-26GCCCT[6] Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.334+10G>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.334+137G>A Multiple submitters
  • c.334+7G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.335-4G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3502+10C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3502+12C>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3503-15C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3503-16G>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3503-67G>A Multiple submitters
  • c.3587+14G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3588-4G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.434+10G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.434+14G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.434+19C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.435-12G>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.435-18C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.491+18C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.600+16G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.600+60G>C Multiple submitters
  • c.601-13C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.601-17C>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.601-20T>C Multiple submitters developmental and epileptic encephalopathy, 14
  • c.601-47A>C Multiple submitters
  • c.759+13G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.759+7C>T Multiple submitters developmental and epileptic encephalopathy, 14
  • c.760-138C>T Multiple submitters
  • c.854+14G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.854+19T>G Multiple submitters developmental and epileptic encephalopathy, 14
  • c.854+9C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.855-7G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala1120= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala1127= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala1127Val Multiple submitters Inborn genetic diseases
  • p.Ala1128Val Multiple submitters Inborn genetic diseases
  • p.Ala178= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala178Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala259= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala477= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala50= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala518= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala583= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala617= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala618= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala717= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala807= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala891= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala934= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala965= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala966= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg1020= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg1082= Multiple submitters Inborn genetic diseases
  • p.Arg1082His Multiple submitters Inborn genetic diseases
  • p.Arg1092His Multiple submitters Inborn genetic diseases
  • p.Arg1107Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1107His Multiple submitters Inborn genetic diseases
  • p.Arg1126Gln Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg1137His Multiple submitters Inborn genetic diseases
  • p.Arg133= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Arg209Cys Multiple submitters Inborn genetic diseases
  • p.Arg209His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg25= Multiple submitters Inborn genetic diseases
  • p.Arg294= Multiple submitters Inborn genetic diseases
  • p.Asn1065= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn156Ser Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn254= Multiple submitters Inborn genetic diseases
  • p.Asn391= Multiple submitters Inborn genetic diseases
  • p.Asn609= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn701= Multiple submitters Inborn genetic diseases
  • p.Asn904= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn93= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asn952= Multiple submitters Inborn genetic diseases
  • p.Asp1016= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp1168= Multiple submitters Inborn genetic diseases
  • p.Asp1168Asn Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asp1187= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp255= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp31= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp319= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp384= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp441= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp740= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp740Glu Multiple submitters Inborn genetic diseases
  • p.Asp77= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp898= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp999= Multiple submitters Inborn genetic diseases
  • p.Cys287= Multiple submitters Inborn genetic diseases
  • p.Gln1123Arg Multiple submitters Inborn genetic diseases
  • p.Gln1174Arg Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gln87= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu1131= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Glu293= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu601= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Glu630= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu949= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly19Ser Multiple submitters Inborn genetic diseases
  • p.Gly20= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gly44Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly692= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Gly702Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.His1054= Multiple submitters Inborn genetic diseases
  • p.His1206= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.His373= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.His499= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.His586= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.His654= Multiple submitters Inborn genetic diseases
  • p.Ile1012= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile195= Multiple submitters Inborn genetic diseases
  • p.Ile383= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile596= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ile627= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ile710= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile760= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile803= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile804= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile834= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu103= Multiple submitters Inborn genetic diseases
  • p.Leu168= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu244= Multiple submitters Inborn genetic diseases
  • p.Leu261= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu272= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu281= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu3= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu301= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu339= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu344= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu349= Multiple submitters Inborn genetic diseases
  • p.Leu386= Multiple submitters Inborn genetic diseases
  • p.Leu432= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu456= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu487= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu492= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu608= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Leu716= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu880= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Lys604= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Lys629= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Lys645= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Met443Leu Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe188= Multiple submitters
  • p.Phe275= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe346= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Phe481= Multiple submitters Inborn genetic diseases
  • p.Phe817= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro1099= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro1185= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro1185Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro1186= Multiple submitters Inborn genetic diseases
  • p.Pro229= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro483= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro4Arg Multiple submitters Inborn genetic diseases
  • p.Pro546= Multiple submitters Inborn genetic diseases
  • p.Pro610= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro661= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro712= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro724= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro913= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser1004= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser1033= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ser1049= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser1211Cys Multiple submitters Inborn genetic diseases
  • p.Ser1223= Multiple submitters Inborn genetic diseases
  • p.Ser159= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser160= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser649= Multiple submitters Inborn genetic diseases
  • p.Ser664= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ser686= Multiple submitters Inborn genetic diseases
  • p.Ser729= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ser757= Multiple submitters Inborn genetic diseases
  • p.Ser79= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ser806= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1000= Multiple submitters Inborn genetic diseases
  • p.Thr1001= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1021= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr1043= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1085= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1094= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr191= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr26Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr465= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr49Ser Multiple submitters Inborn genetic diseases
  • p.Thr628= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr684Met Multiple submitters Inborn genetic diseases
  • p.Thr699= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr977= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr1022= Multiple submitters Inborn genetic diseases
  • p.Tyr1167= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Tyr317= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr488= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr514= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr575= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Tyr582= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Tyr91= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Tyr980= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val1180= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val1207Met Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val210= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Val374= Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val746Met Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Val863= Multiple submitters Inborn genetic diseases
  • c.1035+12G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1035+17C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1035+20G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1035+22_1035+37dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1035+7C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1036-160G>T Single submitter
  • c.1036-168C>G Single submitter
  • c.1036-205G>T Single submitter
  • c.1036-20C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1036-243G>A Single submitter
  • c.1036-7C>T Single submitter
  • c.1036-8del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1036-9C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+10G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+11C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+11del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+12T>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+154G>A Single submitter
  • c.110+16C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+16C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+222A>G Single submitter
  • c.110+2523C>T Single submitter
  • c.110+38C>T Single submitter
  • c.110+7T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+9T>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-11dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-12G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-18G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-4G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-6C>T Single submitter developmental and epileptic encephalopathy, 14

Uncertain significance 996

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

  • c.110+1G>C Multiple submitters developmental and epileptic encephalopathy, 14
  • c.110+5A>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-2A>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1619+5G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1769+6G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.2009-2A>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2349+4A>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2729+5G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.3027+1G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.491+3G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • c.492-3C>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.675+4G>C Multiple submitters developmental and epileptic encephalopathy, 14
  • c.855-10G>A Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala1058Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala1113Asp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala1120Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ala1124Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala165Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala259Val Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ala368Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala368Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala482Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala583Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala584Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala618Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ala793Thr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ala7Glu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala899Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ala957Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1042Gln Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1106Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg1118His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1142Pro Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg1146Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg116Trp Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1200Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg1200His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1230Gly Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg133Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg133His Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg18Leu Multiple submitters Inborn genetic diseases
  • p.Arg232Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg232Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg294Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg398Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg417Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg417His Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg418Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg428Trp Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg464Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg538His Multiple submitters Inborn genetic diseases
  • p.Arg551Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg555Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg555His Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg565Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg573Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg613Trp Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg659Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg659His Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg67Pro Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg682Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg682Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg706Gln Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg707Gln Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg822Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg828His Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg910Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg933Cys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Arg961Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg968Cys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Arg968His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Arg993Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asn119Lys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Asn449Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asn603del Multiple submitters Inborn genetic diseases
  • p.Asp1016Tyr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Asp1071Asn Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Asp1187Asn Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Asp1187His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asp1202His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1231Asn Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Asp448His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp48Val Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp620Asn Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Asp726Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp730Asn Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Asp84Asn Multiple submitters Inborn genetic diseases
  • p.Asp867Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1008Tyr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Cys872Tyr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gln1147His Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gln1212Lys Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gln1234fs Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gln328His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln357Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln540Arg Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gln731Lys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Glu1044Asp Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu1151Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu16Gln Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Glu28_Phe29delinsLeu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Glu461Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu733Asp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Glu733Lys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Glu742Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1097Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly142Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly318Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly361Ser Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Gly434Ser Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly577Ser Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly597Arg Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly652Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly691Arg Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly691Glu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Gly811Ser Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Gly967Asp Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.His1173dup Multiple submitters developmental and epileptic encephalopathy, 14
  • p.His1173Tyr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.His1220Gln Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.His396Tyr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.His588Tyr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ile1195Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile186Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile224Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ile260Met Multiple submitters ⚠
  • p.Ile324Met Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Ile335Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile625Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ile804Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ile818Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile874Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile902Val Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ile991Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Leu1017Pro Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu1116Met Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu1149Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu1177Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu129Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu129Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu595Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu64Trp Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Leu653Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu73Pro Multiple submitters Inborn genetic diseases
  • p.Leu744Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Leu869Val Multiple submitters ⚠
  • p.Lys1108Glu Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Lys1154Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Lys323Arg Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Lys446Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys885Glu Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Met1157Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Met1170Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Met412Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Met566Val Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Met674Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met927Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Met959Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Phe1026Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe235fs Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe29Cys Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe305Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe393Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Phe80Leu Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Phe909Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro1002Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro1103Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro1121Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro1163Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro1227Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Pro326Leu Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Pro36Leu Multiple submitters Inborn genetic diseases
  • p.Pro524Leu Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Pro66Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Pro708Thr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Pro724_Leu728dup Multiple submitters Inborn genetic diseases
  • p.Pro963Leu Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ser1031Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser1045Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1063Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser1144Cys Multiple submitters Inborn genetic diseases
  • p.Ser1209Asn Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser198Thr Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Ser265fs Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Ser300Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser633Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ser739Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser757Leu Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Ter1236Cys Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr1050Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Thr1165Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Thr191Arg Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Thr191Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr225= Multiple submitters Inborn genetic diseases
  • p.Thr225Ala Multiple submitters ⚠
  • p.Thr23Pro Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr26fs Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Thr321Met Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Thr471Ala Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Thr526Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Thr621Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Thr699Met Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Thr9Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5
  • p.Val1047Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val1066Ala Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Val1196Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val134Phe Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Val238Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val310Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val374Met Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val378fs Multiple submitters developmental and epileptic encephalopathy, 14
  • p.Val404Met Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val489Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val500Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val506Met Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val713Phe Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val819Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val86Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Val883Ala Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val903Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Val92Ile Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 5 ⚠
  • p.Val969Ile Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • p.Val984Met Multiple submitters developmental and epileptic encephalopathy, 14 ⚠
  • c.1035+1G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1035+6T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.110+3dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.111-15_137del Single submitter
  • c.111-15G>A Single submitter developmental and epileptic encephalopathy, 14
  • c.1200+12_1200+13delinsGC Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1200+1G>C Single submitter
  • c.1200+5G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1200+6G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1337+4A>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1338-2A>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1338-5T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1401+3G>T Single submitter
  • c.1401+6_1401+9del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1402-6C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1402-7C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+15_1510+199del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+3G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+4C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+5G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1510+8T>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1619+6T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1620-14_1620-4dup Single submitter developmental and epileptic encephalopathy, 14
  • c.1620-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1770-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.1770-7_1785dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.195_254+851del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2006_2008+21delinsGGGTTAGCCGGGACAGGCGCGCA Single submitter
  • c.2008+15del Single submitter developmental and epileptic encephalopathy, 14
  • c.2008+16C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2008+6C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2243_2243+1del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2243+3G>A Single submitter developmental and epileptic encephalopathy, 14
  • c.2243+6T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2244-1G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2350-11T>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2522+3G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2522+3G>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2523-3C>T Single submitter
  • c.2523-4A>G Single submitter
  • c.254+1G>A Single submitter
  • c.254+3A>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.254+6G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2595-14G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2729+4C>T Single submitter developmental and epileptic encephalopathy, 14
  • c.2729+6T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2730-5C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2841+5G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2944-21_2944-6del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.2944-6_2944del Single submitter intellectual disability
  • c.3027+12T>C Single submitter
  • c.3027+18_3027+33del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3028-2A>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3028-3C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+18G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+3T>C Single submitter developmental and epileptic encephalopathy, 14
  • c.3156+44_3156+45insCGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCC Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+5T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+6G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3156+8G>A Single submitter
  • c.3177_3177+22dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3177+18_3177+19delinsTT Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-17_3180dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-1G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-26_3178-13del Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-2A>G Single submitter
  • c.3178-3C>T Single submitter Inborn genetic diseases
  • c.3178-5_3178-1dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-5C>T Single submitter
  • c.3178-7_3180dup Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3178-7T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.334+3G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.334+8G>A Single submitter developmental and epileptic encephalopathy, 14
  • c.335-5C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 5
  • c.3502+1584G>C Single submitter ⚠
  • c.3502+1617C>G Single submitter ⚠