Sugi Variant

Sugi Variant/KCNA2

KCNA2 — 585 ClinVar variants

All ClinVar germline KCNA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 275 flagged for review →

25 Pathogenic · 12 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 21 Conflicting · 24 Benign · 8 Benign/Likely benign · 164 Likely benign · 304 Uncertain significance

Full KCNA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 275

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 agree, ClinVar conflicts 14

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 215

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 215

Predictors split 44

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

All KCNA2 variants

Pathogenic 25

  • p.Arg297Gln Multiple submitters neurodevelopmental disorder
  • p.Arg297Trp Multiple submitters KCNA2-related disorder
  • p.Gln213Ter Multiple submitters KCNA2-related disorder
  • p.Met255_Ile257del Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Thr374Ala Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Arg100Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp61fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Cys244Arg Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln214Ter Single submitter
  • p.Gly197fs Single submitter intellectual disability
  • p.Gly398Asp Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly398Val Single submitter Seizure
  • p.Ile165Lys Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile258Asn Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile263Thr Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu290Pro Single submitter
  • p.Leu298Phe Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu307Val Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro19fs Single submitter epilepsy
  • p.Ser392Phe Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr401Ile Single submitter
  • p.Tyr212Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Val339Phe Single submitter developmental and epileptic encephalopathy, 32
  • p.Val408Ala Single submitter developmental and epileptic encephalopathy, 32
  • c.*1150del No assertion criteria

Pathogenic/Likely pathogenic 12

  • p.Ala262Val Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Arg294His Multiple submitters KCNA2-related disorder
  • p.Glu422fs Multiple submitters Seizure
  • p.Gly338Glu Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Pro405Leu Multiple submitters KCNA2-related disorder
  • p.Pro407Ala Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Pro407Arg Multiple submitters KCNA2-related disorder
  • p.Pro407Leu Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Thr373Ile Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Tyr377Cys Multiple submitters Inborn genetic diseases
  • p.Val399Met Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Val406Phe Multiple submitters developmental and epileptic encephalopathy, 32

Likely pathogenic 27

  • c.*1218_*1219insT Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg294Pro Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg300Ser Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg65_Met66insTer Single submitter developmental and epileptic encephalopathy, 32
  • p.Asn143fs Single submitter Seizure
  • p.Asn412Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp379His Single submitter
  • p.His196fs Single submitter developmental and epileptic encephalopathy, 32
  • p.His310Asn Single submitter developmental and epileptic encephalopathy, 32
  • p.His310Asp Single submitter Global developmental delay
  • p.Leu290Arg Single submitter Inborn genetic diseases
  • p.Leu298_Val299delinsPheLeu Single submitter neurodevelopmental disorder
  • p.Leu330Arg Single submitter
  • p.Leu404Ile Single submitter developmental and epileptic encephalopathy, 32
  • p.Met380Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Phe180Cys Single submitter Inborn genetic diseases
  • p.Phe305Ser Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro362Ala Single submitter
  • p.Pro407Ser Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr227Arg Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr320Ile Single submitter developmental and epileptic encephalopathy, 32
  • p.Trp232Arg Single submitter Seizure
  • p.Tyr377Ter Single submitter Seizure
  • p.Val408Gly Single submitter developmental and epileptic encephalopathy, 32
  • p.His310Arg No assertion criteria developmental and epileptic encephalopathy, 32
  • p.Ile409Leu No assertion criteria developmental and epileptic encephalopathy, 32
  • p.Phe302Leu No assertion criteria developmental and epileptic encephalopathy, 1

Conflicting classifications of pathogenicity 21

  • c.*1245G>A Single submitter
  • c.*15C>T Single submitter
  • p.Ala162Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala349= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala403Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg309Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg65Ter Single submitter Seizure ⚠
  • p.Arg73Ter Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg80Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn256Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu183Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly197Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly249Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly6Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile402Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu330Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Lys478Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro405Ser Single submitter KCNA2-related developmental and epileptic encephalopathy ⚠
  • p.Ser411Tyr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr433Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr23Cys Single submitter Inborn genetic diseases ⚠

Benign 24

Benign/Likely benign 8

  • c.*1204C>T Multiple submitters
  • p.Glu124= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Gly464= Multiple submitters Inborn genetic diseases
  • p.Leu185= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Pro71= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Ser324= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Thr269= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Thr433= Multiple submitters Inborn genetic diseases

Likely benign 164

  • c.-126C>T Multiple submitters
  • c.*10A>G Multiple submitters
  • c.*1454_*1455insTACACACACACA Multiple submitters
  • c.*846G>A Multiple submitters
  • p.Ala12Val Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Ala27Thr Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Ala351= Multiple submitters Inborn genetic diseases
  • p.Arg82= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Asp10= Multiple submitters Inborn genetic diseases
  • p.Glu121= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Glu56= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Ile210= Multiple submitters Inborn genetic diseases
  • p.Ile461= Multiple submitters Inborn genetic diseases
  • p.Leu341= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Leu98= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Phe305= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Ser206= Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Tyr91= Multiple submitters Inborn genetic diseases
  • p.Val369= Multiple submitters Inborn genetic diseases
  • c.-163-91T>A Single submitter
  • c.-77C>T Single submitter
  • c.*1116C>T Single submitter
  • c.*1323T>C Single submitter
  • c.*1451TA[3] Single submitter
  • c.*1454_*1455insTACACA Single submitter
  • c.*1454_*1455insTACACACACA Single submitter
  • c.*1455CA[19] Single submitter
  • c.*1485_*1490del Single submitter
  • c.*1487_*1490del Single submitter
  • c.*1487C>T Single submitter
  • c.*1490_*1491insCA Single submitter
  • c.*1495T>C Single submitter
  • c.*2039_*2043del Single submitter
  • c.*2351C>T Single submitter
  • c.*2525G>C Single submitter
  • c.*4910G>A Single submitter
  • c.*5213C>T Single submitter
  • c.*5479_*5498dup Single submitter
  • c.*6335A>C Single submitter
  • c.*653C>T Single submitter
  • c.*7345G>A Single submitter
  • c.*8961AT[12] Single submitter
  • c.*8961AT[8] Single submitter
  • c.*9304T>C Single submitter
  • p.Ala122= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala122Val Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala323= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala4= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala427= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala52= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala87= Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg114= Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg114Gln Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg297= Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg303= Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg354Gln Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg419Leu Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg80= Single submitter
  • p.Asn192= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asn467= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asn486= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asn488= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp190= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp194= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp24= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp280= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp352= Single submitter developmental and epileptic encephalopathy, 32
  • p.Asp70= Single submitter developmental and epileptic encephalopathy, 32
  • p.Cys181= Single submitter developmental and epileptic encephalopathy, 32
  • p.Cys229= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln146= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln319= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln428= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln462Arg Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu128= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu135= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu154= Single submitter Inborn genetic diseases
  • p.Glu350= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu425= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu460Asp Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu463= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu474= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly131= Single submitter
  • p.Gly160= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly249= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly284= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly284Asp Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly313= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly338= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly386= Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly95= Single submitter developmental and epileptic encephalopathy, 32
  • p.His196= Single submitter developmental and epileptic encephalopathy, 32
  • p.His29= Single submitter developmental and epileptic encephalopathy, 32
  • p.His418= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile177= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile263= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile264= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile296= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu106= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu174= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu182= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu228= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu270= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu321= Single submitter
  • p.Leu328= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu331= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu393= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu430= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu477= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu48= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu484= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu51= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu72= Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu89= Single submitter developmental and epileptic encephalopathy, 32
  • p.Lys306= Single submitter developmental and epileptic encephalopathy, 32
  • p.Lys445= Single submitter developmental and epileptic encephalopathy, 32
  • p.Lys446= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe115= Single submitter
  • p.Phe145= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe237= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe302= Single submitter Inborn genetic diseases
  • p.Phe358= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe472= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe77= Single submitter developmental and epileptic encephalopathy, 32
  • p.Phe78= Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro105= Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro156= Single submitter Inborn genetic diseases
  • p.Pro221= Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro382= Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro405= Single submitter developmental and epileptic encephalopathy, 32
  • p.Pro55= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser179= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser179Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser311= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser360= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser371= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser40= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser440= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser94= Single submitter developmental and epileptic encephalopathy, 32
  • p.Ter500= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr184= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr204Ile Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr22Ser Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr320= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr373= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr374= Single submitter
  • p.Thr383= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr5= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr50= Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr57= Single submitter developmental and epileptic encephalopathy, 32
  • p.Tyr155= Single submitter developmental and epileptic encephalopathy, 32
  • p.Tyr23= Single submitter developmental and epileptic encephalopathy, 32
  • p.Tyr68= Single submitter developmental and epileptic encephalopathy, 32
  • p.Tyr92= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val172= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val178= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val239= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val295= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val3= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val301= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val370= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val410= Single submitter developmental and epileptic encephalopathy, 32
  • p.Val465= Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu144= No assertion criteria KCNA2-related disorder

Uncertain significance 304

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

  • p.Ala243Pro Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala368Thr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala395Val Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg127Gln Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg354Ter Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Arg419Gln Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg419Trp Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg43Trp Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg65Gln Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg80Trp Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg97Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg99Lys Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Asn207Lys Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn207Ser Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn256Ser Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp280Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp79Tyr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys229fs Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Cys229Tyr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys435Tyr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln426Ter Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Gln431Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu11Lys Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu463Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly464Asp Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly96fs Multiple submitters developmental and epileptic encephalopathy, 32
  • p.His310Tyr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile187Val Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile385Thr Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile402Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu182Met Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu341Pro Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Met171Val Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Met255Lys Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Met459Val Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Phe416Leu Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro141His Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro382Arg Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro382Leu Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro83Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser110Phe Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser208Gly Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser234Pro Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser324Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser434Arg Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr184Ile Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr209Ser Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr452Ala Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Trp150Arg Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Trp232Ser Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr417Cys Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Val178Ile Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • p.Val346_Tyr347insTer Multiple submitters developmental and epileptic encephalopathy, 32
  • p.Val406Ile Multiple submitters developmental and epileptic encephalopathy, 32 ⚠
  • c.-3A>G Single submitter
  • c.*1123C>T Single submitter
  • c.*1128C>A Single submitter developmental and epileptic encephalopathy, 32
  • c.*1150G>A Single submitter Inborn genetic diseases
  • c.*1186T>C Single submitter
  • c.*1195A>C Single submitter
  • c.*1207G>T Single submitter Inborn genetic diseases
  • c.*1209A>G Single submitter
  • c.*1215G>A Single submitter Inborn genetic diseases
  • c.*1228G>C Single submitter
  • c.*1254G>T Single submitter Inborn genetic diseases
  • c.*9361G>A Single submitter developmental and epileptic encephalopathy, 32
  • c.*9383T>C Single submitter
  • c.*9384G>T Single submitter Inborn genetic diseases
  • p.Ala122Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala13Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala248Ser Single submitter ⚠
  • p.Ala281Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala281Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala281Val Single submitter Inborn genetic diseases ⚠
  • p.Ala287Ser Single submitter ⚠
  • p.Ala323Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala345Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala349Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala351Val Single submitter developmental and epileptic encephalopathy, 32
  • p.Ala368Glu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala395Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala403Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala480Thr Single submitter ⚠
  • p.Ala52Asp Single submitter Inborn genetic diseases
  • p.Ala52Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala87Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ala9Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg100Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg114Trp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg127Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg127Trp Single submitter ⚠
  • p.Arg138Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg138Ser Single submitter ⚠
  • p.Arg147Lys Single submitter ⚠
  • p.Arg163Lys Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg189Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg189Trp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg240fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg240Ser Single submitter ⚠
  • p.Arg294Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg43Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg473Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg473Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg65Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg73Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg82Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg82His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Arg97Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Arg99Gly Single submitter ⚠
  • p.Asn103Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn103Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn192Tyr Single submitter ⚠
  • p.Asn414Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn467Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asn467fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Asn481Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp107_Glu111del Single submitter
  • p.Asp129Val Single submitter ⚠
  • p.Asp190Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp21Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp220Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp24Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp259Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp352Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp379Asn Single submitter ⚠
  • p.Asp79Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp79His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Asp7Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys181Tyr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys244Tyr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys435Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Cys482Ser Single submitter ⚠
  • p.Cys482Tyr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln146His Single submitter Inborn genetic diseases ⚠
  • p.Gln148_Leu151del Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln214Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln282Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Gln286His Single submitter ⚠
  • p.Gln315His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln357His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln357Pro Single submitter ⚠
  • p.Gln47His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gln93Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu117Asp Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu121Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu124Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu137Lys Single submitter ⚠
  • p.Glu154Gln Single submitter ⚠
  • p.Glu273fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu327Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu327Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu350Ter Single submitter developmental and epileptic encephalopathy, 32
  • p.Glu355Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu355Gln Single submitter ⚠
  • p.Glu420Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu474Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Glu475Ala Single submitter ⚠
  • p.Glu56Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly119Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly119Glu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly17Glu Single submitter ⚠
  • p.Gly197Cys Single submitter ⚠
  • p.Gly197Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly199Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly211Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly211Val Single submitter Inborn genetic diseases ⚠
  • p.Gly249Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly284Arg Single submitter ⚠
  • p.Gly313Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly329Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly376Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly387Arg Single submitter ⚠
  • p.Gly391Asp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly391Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Gly423fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Gly464Ser Single submitter ⚠
  • p.Gly6Glu Single submitter ⚠
  • p.His18Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.His196Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.His29Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.His310Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile108Val Single submitter Inborn genetic diseases ⚠
  • p.Ile133Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile164Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile210fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile210Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile231Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile254Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile263Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile264Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile332Met Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile340del Single submitter developmental and epileptic encephalopathy, 32
  • p.Ile409Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ile438Val Single submitter Inborn genetic diseases ⚠
  • p.Ile461Phe Single submitter ⚠
  • p.Leu106Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu15Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu174Arg Single submitter ⚠
  • p.Leu174Met Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu270fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu307Trp Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu314fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Leu314Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu321Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu330His Single submitter ⚠
  • p.Leu393Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu404Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Leu58Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Lys247Glu Single submitter ⚠
  • p.Lys306Ile Single submitter
  • p.Lys437Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Lys63Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met171Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met171Thr Single submitter ⚠
  • p.Met255Arg Single submitter KCNA2-related disorder ⚠
  • p.Met255Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met288fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Met288Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met288Thr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met288Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met325Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met459Leu Single submitter ⚠
  • p.Met495Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Met66Val Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Phe153Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Phe235Val Single submitter Inborn genetic diseases ⚠
  • p.Phe250Ser Single submitter ⚠
  • p.Phe333Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro156Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro161fs Single submitter
  • p.Pro16Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro16Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro186Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro245Ser Single submitter ⚠
  • p.Pro25Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro25Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro265Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro362Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro382Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro405Arg Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro436Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro442Ser Single submitter ⚠
  • p.Pro71Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro8Gln Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Pro8Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser158Arg Single submitter ⚠
  • p.Ser169Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser169Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser176Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser198Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser217Tyr Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser246Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser343Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser344fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Ser356Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser411Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser447Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Ser449Asn Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr201Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr204Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr209Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr209Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr216Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr219fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Thr219Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr227Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr252Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr252Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr269Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr373Lys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr374Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr383Pro Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr384Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr452Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr46Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr479Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr479fs Single submitter
  • p.Thr493Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Thr57Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Trp150Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Trp232Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr205Phe Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr205Ser Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr377His Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr458His Single submitter developmental and epileptic encephalopathy, 32
  • p.Tyr489Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Tyr90Cys Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val168Met Single submitter Inborn genetic diseases
  • p.Val225Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val261Ala Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val261Leu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val299Leu Single submitter developmental and epileptic encephalopathy, 32
  • p.Val301_Phe302insTer Single submitter developmental and epileptic encephalopathy, 32
  • p.Val346Met Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val35fs Single submitter developmental and epileptic encephalopathy, 32
  • p.Val369Phe Single submitter ⚠
  • p.Val370Ile Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val375Ala Single submitter ⚠
  • p.Val390Glu Single submitter developmental and epileptic encephalopathy, 32 ⚠
  • p.Val390Gly Single submitter developmental and epileptic encephalopathy, 32 ⚠