Sugi Variant

Sugi Variant/KCNB1

KCNB1 — 862 ClinVar variants

All ClinVar germline KCNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →

44 Pathogenic · 15 Pathogenic/Likely pathogenic · 57 Likely pathogenic · 65 Conflicting · 56 Benign · 33 Benign/Likely benign · 274 Likely benign · 318 Uncertain significance

Full KCNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 335

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 2

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

Predictors agree, ClinVar conflicts 55

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 223

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 223

Predictors split 53

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

All KCNB1 variants

Pathogenic 44

  • p.Arg306Cys Multiple submitters epilepsy
  • p.Gln215Ter Multiple submitters intellectual disability
  • p.Gly379Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly381Arg Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly401Arg Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Phe416Leu Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser347Arg Multiple submitters Inborn genetic diseases
  • p.Thr210Arg Multiple submitters Epileptic encephalopathy
  • p.Thr374Ile Multiple submitters KCNB1-related disorder
  • p.Trp370Ter Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val349Phe Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val378Leu Multiple submitters Epileptic encephalopathy ⚠
  • p.Ala352_Asp355del Single submitter
  • p.Arg326del Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg438fs Single submitter
  • p.Asp382His Single submitter
  • p.Gln228Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu330Gln Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly221fs Single submitter
  • p.Gly321Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly390Glu Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile411Asn Single submitter
  • p.Leu320Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys502Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Met375Thr Single submitter
  • p.Met375Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Phe351Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro408Leu Single submitter
  • p.Pro408Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro410Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser327fs Single submitter
  • p.Ser417Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser517Ter Single submitter
  • p.Thr210Lys Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr372Ile Single submitter intellectual disability ⚠
  • p.Thr65fs Single submitter epilepsy
  • p.Trp369Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Trp370Arg Single submitter
  • p.Tyr274fs Single submitter
  • p.Tyr328Ter Single submitter Epileptic encephalopathy
  • p.Val286fs Single submitter Epileptic encephalopathy
  • p.Val378Ala Single submitter
  • p.Gly379Arg No assertion criteria developmental and epileptic encephalopathy, 26
  • p.Gly510Ter No assertion criteria developmental and epileptic encephalopathy, 26

Pathogenic/Likely pathogenic 15

  • p.Arg312Cys Multiple submitters KCNB1-related disorder
  • p.Arg312His Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg433Ter Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg583Ter Multiple submitters intellectual disability
  • p.Asn329Ser Multiple submitters developmental and epileptic encephalopathy, 26 ⚠
  • p.Asn414Asp Multiple submitters Marfanoid habitus and intellectual disability
  • p.Cys397Tyr Multiple submitters Seizure
  • p.Gly332Val Multiple submitters
  • p.Gly379Glu Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly394Arg Multiple submitters Epileptic encephalopathy
  • p.Ser319Phe Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr210Met Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr323Ile Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr377Asn Multiple submitters Epileptic encephalopathy
  • p.Trp369Leu Multiple submitters developmental and epileptic encephalopathy, 26

Likely pathogenic 57

  • p.Ala406Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg303Gln Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Asp382Asn Multiple submitters Epileptic encephalopathy
  • p.Gly395Arg Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly395Glu Multiple submitters developmental and epileptic encephalopathy, 26
  • p.His313Asn Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile199Phe Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu334Pro Multiple submitters Epileptic encephalopathy
  • p.Ser363fs Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala366fs Single submitter
  • p.Ala435Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg300His Single submitter
  • p.Arg312Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn209Lys Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp382Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Cys397Phe Single submitter developmental and epileptic encephalopathy, 26
  • p.Cys710fs Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu180Gln Single submitter Inborn genetic diseases
  • p.Glu330Asp Single submitter
  • p.Glu330Lys Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu353Lys Single submitter
  • p.Glu422Ala Single submitter ⚠
  • p.Glu43Gly Single submitter Epileptic encephalopathy
  • p.Glu497Ter Single submitter intellectual disability
  • p.Gly332Asp Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly394Glu Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly401Ala Single submitter developmental and epileptic encephalopathy, 26
  • p.His313Arg Single submitter
  • p.Ile196Phe Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile196Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile199Asn Single submitter KCNB1-related disorder
  • p.Ile307Val Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ile364Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile409Thr Single submitter intellectual disability
  • p.Leu208Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu317_Gly321del Single submitter KCNB1-related disorder
  • p.Leu407Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys174fs Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro272Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro385Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser202Cys Single submitter
  • p.Ser314Ala Single submitter
  • p.Ser319Tyr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser347Ile Single submitter
  • p.Ser367Phe Single submitter Inborn genetic diseases
  • p.Ser447Ter Single submitter
  • p.Ser590Asn Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Thr210Ala Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr359Ile Single submitter
  • p.Thr372Asn Single submitter intellectual disability
  • p.Thr377Ala Single submitter KCNB1-related disorder
  • p.Trp488Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr384Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr533Ter Single submitter
  • p.Val378Gly Single submitter developmental and epileptic encephalopathy, 26
  • p.Val378Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg247Gly No assertion criteria developmental and epileptic encephalopathy, 26

Conflicting classifications of pathogenicity 65

  • p.Ala311Thr Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ala621Val Single submitter Inborn genetic diseases ⚠
  • p.Ala646Thr Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ala703Ser Single submitter KCNB1-related disorder ⚠
  • p.Arg293Cys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg300Cys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg303Ter Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg306His Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg325Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg432Trp Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg575Cys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg575His Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg670Gln Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg698Trp Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg736Trp Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg854Gln Single submitter Inborn genetic diseases ⚠
  • p.Asp771Val Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Cys398Tyr Single submitter epilepsy ⚠
  • p.Cys710Tyr Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Glu281Lys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Glu655Lys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Glu709= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu798Gln Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Glu82Lys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly221Ser Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly381Glu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly510Glu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly618Asp Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly618Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly628Glu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Gly631Cys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.His313Tyr Single submitter KCNB1-related disorder ⚠
  • p.Ile124= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile565Val Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ile814Met Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Leu179Pro Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Leu246Arg Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Leu317Phe Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Leu336Phe Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Lys658fs Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Lys7Asn Single submitter Inborn genetic diseases
  • p.Lys7Glu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Met448Thr Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro385Leu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro408Arg Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro734Leu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro774Thr Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro775Ala Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro775Arg Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro775His Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ser10Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser517Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser550Leu Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ser769Asn Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ser799Asn Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Thr372del Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr377Ile Single submitter KCNB1-related disorder ⚠
  • p.Thr547Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Trp369Arg Single submitter Epileptic encephalopathy ⚠
  • p.Tyr380Cys Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Val200Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Val33= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val413Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Val446Ile Single submitter Inborn genetic diseases ⚠
  • p.Val526Ile Single submitter Inborn genetic diseases ⚠

Benign 56

  • c.568-18A>G Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Asp452= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.His66= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu766= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser857Asn Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr616Ser Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr712Met Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala28Gly Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Ala28Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala515Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala702Glu Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala743Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala750Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala758Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala758Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala819Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala819Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg34His Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg47Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg575Gly Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg61His Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg627Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg854Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn812Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp645= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp80Gly Single submitter developmental and epileptic encephalopathy, 26
  • p.Gln522Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu470Asp Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly617Glu Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly618Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly751= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly751Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly824Asp Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile858Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu483Phe Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu684His Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu688Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu695Ile Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu844Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys492Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys823Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Met661Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Phe198= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro2Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro568Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro738Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro806Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro839Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser14Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser614Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser700Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser737Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr616Ile Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr727Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr788Met Single submitter developmental and epileptic encephalopathy, 26
  • p.Val841Ile Single submitter developmental and epileptic encephalopathy, 26

Benign/Likely benign 33

  • c.567+3G>A Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala552Thr Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala552Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala621Ser Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala702= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala702Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala750Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg432= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg456Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg627Gln Multiple submitters Inborn genetic diseases
  • p.Arg736Gln Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg842His Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Asp125= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Asp757= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly394= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly578= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile463= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile463Thr Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu403= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu778= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Lys59= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro182= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro613Ser Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro666Leu Multiple submitters Inborn genetic diseases
  • p.Ser26= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser792Leu Multiple submitters Inborn genetic diseases
  • p.Ser838Pro Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr712= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr788Lys Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val569Ile Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val569Leu Multiple submitters Inborn genetic diseases
  • p.Val687Ile Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val718Met Multiple submitters developmental and epileptic encephalopathy, 26

Likely benign 274

  • c.567+49C>T Multiple submitters
  • c.568-20C>T Multiple submitters developmental and epileptic encephalopathy, 26
  • c.568-5C>T Multiple submitters developmental and epileptic encephalopathy, 26
  • c.568-9T>C Multiple submitters developmental and epileptic encephalopathy, 26
  • c.-47G>A Multiple submitters
  • c.-51G>C Multiple submitters
  • p.Ala3= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala435= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ala819Val Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg11= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg300= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg32= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg56= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg627Trp Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg698Gln Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Arg842Cys Multiple submitters Inborn genetic diseases
  • p.Asn81= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Asp840= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Cys168= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gln222= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Glu600= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly332= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly38= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly635= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Gly824= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.His231= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.His313= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile199= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile237= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile412= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile445= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ile654= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu246= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu271= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu685= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Leu809= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Lys171= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Lys27= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Lys776Arg Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Phe163= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Phe220= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro17= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro385= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro686= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro784= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Pro839Leu Multiple submitters developmental and epileptic encephalopathy, 26 ⚠
  • p.Pro89= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser285= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser517= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser792= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Ser805= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr13= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr210= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr539= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Thr596= Multiple submitters
  • p.Thr788= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Tyr137= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val24= Multiple submitters developmental and epileptic encephalopathy, 26
  • p.Val705= Multiple submitters developmental and epileptic encephalopathy, 26
  • c.567+11G>C Single submitter developmental and epileptic encephalopathy, 26
  • c.567+12A>T Single submitter developmental and epileptic encephalopathy, 26
  • c.567+13T>A Single submitter developmental and epileptic encephalopathy, 26
  • c.567+18G>A Single submitter developmental and epileptic encephalopathy, 26
  • c.567+20G>T Single submitter developmental and epileptic encephalopathy, 26
  • c.567+8T>G Single submitter developmental and epileptic encephalopathy, 26
  • c.568-10C>T Single submitter developmental and epileptic encephalopathy, 26
  • c.568-7C>T Single submitter developmental and epileptic encephalopathy, 26
  • c.-13G>A Single submitter
  • c.-29C>G Single submitter
  • c.*17G>A Single submitter
  • c.*71A>C Single submitter
  • p.Ala112= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala152= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala169Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala205= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala205Val Single submitter
  • p.Ala234= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala264Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala28= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala366= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala406= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala515= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala537Ser Single submitter
  • p.Ala621= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala632= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala701= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala706= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala706Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala706Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala717= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala745= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala750= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala758= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ala819= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg100= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg156= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg158= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg294= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg31Pro Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg325Gln Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Arg34= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg433= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg583= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg583Gln Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg61= Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg636= Single submitter
  • p.Arg670Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Arg696= Single submitter
  • p.Arg736= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn263= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn36= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn442= Single submitter
  • p.Asn449= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn486= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn525= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn697= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asn835= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp164= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp357= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp382= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp531= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp680= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp74= Single submitter developmental and epileptic encephalopathy, 26
  • p.Asp771= Single submitter developmental and epileptic encephalopathy, 26
  • p.Cys111= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gln288= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gln318= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gln522His Single submitter developmental and epileptic encephalopathy, 26
  • p.Gln527= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu142= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu159= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu22= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu243= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu330= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu470= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu623= Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu709fs Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu834= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly341= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly379= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly381= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly39= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly390= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly4= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly473Asp Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly617= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly631Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly689= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly699= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly699Glu Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly780= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly846= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly847Ala Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly848= Single submitter
  • p.Gly851= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly9= Single submitter developmental and epileptic encephalopathy, 26
  • p.Gly90= Single submitter developmental and epileptic encephalopathy, 26
  • p.His105= Single submitter developmental and epileptic encephalopathy, 26
  • p.His482Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.His523= Single submitter developmental and epileptic encephalopathy, 26
  • p.His692= Single submitter
  • p.His850= Single submitter
  • p.His88= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile23= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile277= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile301= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile373= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile430Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile463Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile580Val Single submitter developmental and epileptic encephalopathy, 26
  • p.Ile756Thr Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu119= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu179= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu201= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu214= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu217= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu262= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu334= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu334Phe Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu389= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu396= Single submitter
  • p.Leu495= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu52= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu524= Single submitter
  • p.Leu695= Single submitter
  • p.Leu70= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu708= Single submitter developmental and epileptic encephalopathy, 26
  • p.Leu713= Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys354= Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys360= Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys467Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys502Asn Single submitter developmental and epileptic encephalopathy, 26
  • p.Lys658Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Met448Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Phe604= Single submitter developmental and epileptic encephalopathy, 26
  • p.Phe746= Single submitter developmental and epileptic encephalopathy, 26
  • p.Phe786= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro18= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro2= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro272= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro2Gln Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro2Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro543= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro568= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro613= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro642= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro683= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro734= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro734Arg Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro734His Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro774= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro775= Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro775Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro779Leu Single submitter Inborn genetic diseases
  • p.Pro784Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Pro801= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser15= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser202= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser216= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser250= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser251= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser444= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser496= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser501= Single submitter
  • p.Ser541Tyr Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser554Asn Single submitter Inborn genetic diseases
  • p.Ser564= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser593= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser607= Single submitter
  • p.Ser650= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser651Gly Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser656= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser68= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser68Ter Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser773= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser777Ile Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser781Asn Single submitter
  • p.Ser800= Single submitter
  • p.Ser826= Single submitter developmental and epileptic encephalopathy, 26
  • p.Ser852= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr154Ile Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Thr203Ser Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr276= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr280= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr372= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr376= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr387= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr498= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr506= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr547= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr733= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr742Lys Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr782Ile Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr790= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr804= Single submitter developmental and epileptic encephalopathy, 26
  • p.Thr93= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr244= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr273= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr274= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr328= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr533His Single submitter developmental and epileptic encephalopathy, 26 ⚠
  • p.Tyr726= Single submitter
  • p.Tyr76= Single submitter developmental and epileptic encephalopathy, 26
  • p.Tyr768= Single submitter
  • p.Val200= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val349= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val402= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val446= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val465Ile Single submitter developmental and epileptic encephalopathy, 26
  • p.Val579= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val638Leu Single submitter developmental and epileptic encephalopathy, 26
  • p.Val843= Single submitter developmental and epileptic encephalopathy, 26
  • p.Val843Met Single submitter developmental and epileptic encephalopathy, 26
  • p.Glu466Asp No assertion criteria intellectual disability

Uncertain significance 318

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