KCND2 — 475 ClinVar variants

All ClinVar germline KCND2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 8 Conflicting · 20 Benign · 6 Benign/Likely benign · 160 Likely benign · 271 Uncertain significance

Full KCND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 6

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

KCND2 p.Ala157Thr Conflicting Single submitter
Inborn genetic diseases
KCND2 p.Ala249Val Conflicting Single submitter
Inborn genetic diseases
KCND2 p.Arg511His Conflicting Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asn544Ser Conflicting Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr606Ile Conflicting Single submitter
Inborn genetic diseases
KCND2 p.Val395Asp Conflicting Single submitter

Predictors lean, ClinVar uncertain 161

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 161

KCND2 p.Ala145Thr Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Ala399Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Arg147His Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Arg449Gln Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Asp153Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Asp90His Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.His77Arg Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Lys217Arg Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Met333Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Met580Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Pro178Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Pro512Leu Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Ser352Thr Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Tyr189Cys Uncertain significance Multiple submitters
neurodevelopmental disorder
KCND2 p.Ala152Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala157Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala157Val Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Ala161Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala251Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala2Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala339Thr Uncertain significance Single submitter
KCND2-related neurodevelopmental disorder
KCND2 p.Ala345Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala382Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala431Asp Uncertain significance Single submitter
KCND2 p.Ala435Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala441Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala507Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala543Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala7Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg100Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg108Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg224Trp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg256Leu Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Arg296Gln Uncertain significance Single submitter
KCND2 p.Arg305His Uncertain significance Single submitter
KCND2 p.Arg311Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg32Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg35Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg37Lys Uncertain significance Single submitter
KCND2 p.Arg411His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg418Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg432Met Uncertain significance Single submitter
KCND2 p.Arg434Trp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg449Trp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg511Ser Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Arg51Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg532Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg539Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg539His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg562Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg562Thr Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Arg613Gly Uncertain significance Single submitter
KCND2 p.Arg72Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg87Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg93His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asn282Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asn416Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asn442Asp Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Asn510Tyr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asn544Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp116Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp151Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp153Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp281Asn Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Asp57Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp611Glu Uncertain significance Single submitter
KCND2-associated neurodevelopmental syndrome
KCND2 p.Cys236Tyr Uncertain significance Single submitter
KCND2 p.Gln39Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gln523Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gln590Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu136Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu218Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu565Ala Uncertain significance Single submitter
KCND2 p.Glu582Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu582Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu609Lys Uncertain significance Single submitter
KCND2 p.Glu79Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly130Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly325Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly471Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly4Ala Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Gly551Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly621Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly621Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly621Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His109Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His534Tyr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His549Tyr Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.His77Gln Uncertain significance Single submitter
KCND2 p.His77Tyr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile129Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile195Ser Uncertain significance Single submitter
KCND2 p.Ile216Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile216Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile216Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile239Ser Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Ile335Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile335Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile91Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile95Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Leu119Pro Uncertain significance Single submitter
KCND2 p.Leu245Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Leu317Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Leu453Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Lys36Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Lys448Arg Uncertain significance Single submitter
neurodevelopmental disorder
KCND2 p.Lys535Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Met504Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe230Ile Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe230Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe230Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe295Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe538Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe75Leu Uncertain significance Single submitter
KCND2 p.Pro401Leu Uncertain significance Single submitter
KCND2 p.Pro568Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Pro63Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser113Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser160Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser211Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser263Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser330Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser350Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser391Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser468Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser473Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser502Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser516Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser521Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser552Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr101Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr154Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr206Lys Uncertain significance Single submitter
KCND2 p.Thr316Arg Uncertain significance Single submitter
KCND2-related disorder
KCND2 p.Thr380Ile Uncertain significance Single submitter
KCND2 p.Thr508Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr50Ile Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr526Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr537Pro Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Thr558Met Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr594Ser Uncertain significance Single submitter
KCND2 p.Thr602Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Trp362Arg Uncertain significance Single submitter
KCND2 p.Trp55Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Tyr115Asp Uncertain significance Single submitter
KCND2 p.Tyr274Cys Uncertain significance Single submitter
KCND2 p.Tyr363Cys Uncertain significance Single submitter
KCND2-related neurodevelopmental disorder
KCND2 p.Tyr413Cys Uncertain significance Single submitter
KCND2 p.Tyr99Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Val171Ile Uncertain significance Single submitter
Early Myoclonic Encephalopathy

Predictors split 55

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

KCND2 p.Ala321Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Asp612Asn Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Gly210Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Met20Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Pro26Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
KCND2 p.Val5Met Uncertain significance Multiple submitters
Inborn genetic diseases
KCND2 p.Ala120Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala14Val Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Ala226Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala235Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala360Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala6Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala6Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ala7Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg170Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg259His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg434Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Arg449Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Asp131Glu Uncertain significance Single submitter
KCND2 p.Asp64Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Cys529Trp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gln53His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gln53Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu486Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu492Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Glu492Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Gly18Arg Uncertain significance Single submitter
KCND2 p.Gly348Arg Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Gly439Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His179Arg Uncertain significance Single submitter
KCND2 p.His478Arg Uncertain significance Single submitter
KCND2-related neurodevelopmental disorder
KCND2 p.His478Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His483Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His483Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.His491Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ile129Met Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Leu162Trp Uncertain significance Single submitter
KCND2 p.Leu457Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Leu556Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Lys487Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe11Leu Likely benign Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Phe301Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Pro208Ala Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Pro21Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Pro28Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser253Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser447Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Ser557Arg Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Ser599Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Thr280Arg Uncertain significance Single submitter
Inborn genetic diseases
KCND2 p.Val190Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Val278Met Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Val44Met Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Val5Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
KCND2 p.Val627Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy

All KCND2 variants

Pathogenic 4

p.Val404Met Multiple submitters Inborn genetic diseases
p.Arg305Cys Single submitter Early Myoclonic Encephalopathy
p.Thr370Ala Single submitter
p.Val366Phe Single submitter Early Myoclonic Encephalopathy

Pathogenic/Likely pathogenic 2

p.Pro403Ala Multiple submitters Early Myoclonic Encephalopathy
p.Pro403Leu Multiple submitters Inborn genetic diseases

Likely pathogenic 4

p.Ile405Met Single submitter Early Myoclonic Encephalopathy
p.Ile405Phe Single submitter KCND2-related neurodevelopmental disorder with or without seizures
p.Val395Ala Single submitter
p.Val402Leu Single submitter

Conflicting classifications of pathogenicity 8

c.1278+4C>T Single submitter Inborn genetic diseases
p.Ala157Thr Single submitter Inborn genetic diseases ⚠
p.Ala249Val Single submitter Inborn genetic diseases ⚠
p.Arg511His Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn544Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile216= Single submitter Early Myoclonic Encephalopathy
p.Thr606Ile Single submitter Inborn genetic diseases ⚠
p.Val395Asp Single submitter ⚠

Benign 20

c.1116-16T>A Multiple submitters Early Myoclonic Encephalopathy
c.1278+19G>A Multiple submitters Early Myoclonic Encephalopathy
c.1374+68T>C Multiple submitters
c.1375-196C>T Multiple submitters
p.Ala152= Multiple submitters Early Myoclonic Encephalopathy
p.Arg224= Multiple submitters Early Myoclonic Encephalopathy
p.Cys236= Multiple submitters Early Myoclonic Encephalopathy
p.His491= Multiple submitters Early Myoclonic Encephalopathy
c.1116-11C>A Single submitter Early Myoclonic Encephalopathy
c.1116-134A>G Single submitter
c.1116-18A>T Single submitter Early Myoclonic Encephalopathy
c.1116-28AT[7] Single submitter
c.1279-10dup Single submitter Early Myoclonic Encephalopathy
c.1279-4A>G Single submitter Early Myoclonic Encephalopathy
c.1468-182G>T Single submitter
c.1716-8dup Single submitter Early Myoclonic Encephalopathy
c.-1197A>C Single submitter
c.-1205C>T Single submitter
p.Arg539Leu Single submitter Early Myoclonic Encephalopathy
p.Val267= Single submitter Early Myoclonic Encephalopathy

Benign/Likely benign 6

c.1375-8G>T Multiple submitters Early Myoclonic Encephalopathy
c.1716-8del Multiple submitters Early Myoclonic Encephalopathy
p.Asn144= Multiple submitters Early Myoclonic Encephalopathy
p.Gln446= Multiple submitters Early Myoclonic Encephalopathy
p.Leu400= Multiple submitters Early Myoclonic Encephalopathy
p.Leu481= Multiple submitters Early Myoclonic Encephalopathy

Likely benign 160

c.1116-14T>A Multiple submitters Early Myoclonic Encephalopathy
p.Ala250= Multiple submitters Early Myoclonic Encephalopathy
p.Arg72= Multiple submitters Early Myoclonic Encephalopathy
p.Asn442Ser Multiple submitters Inborn genetic diseases
p.Gly348= Multiple submitters Early Myoclonic Encephalopathy
p.Gly471Ser Multiple submitters Inborn genetic diseases
p.Ile265= Multiple submitters Early Myoclonic Encephalopathy
p.Leu586= Multiple submitters Early Myoclonic Encephalopathy
p.Pro403= Multiple submitters Early Myoclonic Encephalopathy
p.Pro512Ser Multiple submitters Inborn genetic diseases
p.Ser472Phe Multiple submitters Inborn genetic diseases
p.Ser473Thr Multiple submitters Inborn genetic diseases
p.Val545= Multiple submitters Early Myoclonic Encephalopathy
c.1115+13A>C Single submitter Early Myoclonic Encephalopathy
c.1116-16T>G Single submitter Early Myoclonic Encephalopathy
c.1116-17T>C Single submitter Early Myoclonic Encephalopathy
c.1116-19T>C Single submitter Early Myoclonic Encephalopathy
c.1116-8T>C Single submitter Early Myoclonic Encephalopathy
c.1278+13C>T Single submitter Early Myoclonic Encephalopathy
c.1278+16C>T Single submitter Early Myoclonic Encephalopathy
c.1278+17G>A Single submitter Early Myoclonic Encephalopathy
c.1278+7A>G Single submitter Early Myoclonic Encephalopathy
c.1278+8T>C Single submitter Early Myoclonic Encephalopathy
c.1279-19T>A Single submitter Early Myoclonic Encephalopathy
c.1279-6C>T Single submitter Early Myoclonic Encephalopathy
c.1374+15A>C Single submitter Early Myoclonic Encephalopathy
c.1374+18del Single submitter Early Myoclonic Encephalopathy
c.1374+19C>T Single submitter Early Myoclonic Encephalopathy
c.1375-10T>G Single submitter Early Myoclonic Encephalopathy
c.1375-14C>G Single submitter Early Myoclonic Encephalopathy
c.1375-7T>G Single submitter Early Myoclonic Encephalopathy
c.1375-8G>A Single submitter Early Myoclonic Encephalopathy
c.1467+8_1467+17del Single submitter Early Myoclonic Encephalopathy
c.1468-13A>G Single submitter Early Myoclonic Encephalopathy
c.1468-14C>T Single submitter Early Myoclonic Encephalopathy
c.1468-16T>C Single submitter Early Myoclonic Encephalopathy
c.1715+16C>T Single submitter Early Myoclonic Encephalopathy
c.1715+8A>G Single submitter Early Myoclonic Encephalopathy
c.1716-14T>G Single submitter Early Myoclonic Encephalopathy
c.1716-6T>C Single submitter Early Myoclonic Encephalopathy
c.1716-7C>G Single submitter Early Myoclonic Encephalopathy
c.1716-7del Single submitter Early Myoclonic Encephalopathy
p.Ala14= Single submitter Early Myoclonic Encephalopathy
p.Ala16= Single submitter Early Myoclonic Encephalopathy
p.Ala196= Single submitter Early Myoclonic Encephalopathy
p.Ala201= Single submitter Early Myoclonic Encephalopathy
p.Ala228= Single submitter Early Myoclonic Encephalopathy
p.Ala23= Single submitter Early Myoclonic Encephalopathy
p.Ala235= Single submitter Early Myoclonic Encephalopathy
p.Ala3= Single submitter Early Myoclonic Encephalopathy
p.Ala351= Single submitter Early Myoclonic Encephalopathy
p.Ala41Val Single submitter Early Myoclonic Encephalopathy
p.Ala443= Single submitter Early Myoclonic Encephalopathy
p.Ala596= Single submitter Early Myoclonic Encephalopathy
p.Ala7= Single submitter Early Myoclonic Encephalopathy
p.Arg13= Single submitter Early Myoclonic Encephalopathy
p.Arg296= Single submitter Early Myoclonic Encephalopathy
p.Arg305= Single submitter Early Myoclonic Encephalopathy
p.Arg35= Single submitter Early Myoclonic Encephalopathy
p.Arg418= Single submitter Early Myoclonic Encephalopathy
p.Arg533= Single submitter Early Myoclonic Encephalopathy
p.Arg533Gln Single submitter Early Myoclonic Encephalopathy
p.Arg93= Single submitter Early Myoclonic Encephalopathy
p.Asn282= Single submitter Early Myoclonic Encephalopathy
p.Asp284= Single submitter Early Myoclonic Encephalopathy
p.Asp495= Single submitter Early Myoclonic Encephalopathy
p.Asp611= Single submitter Early Myoclonic Encephalopathy
p.Asp612= Single submitter Early Myoclonic Encephalopathy
p.Cys209= Single submitter Early Myoclonic Encephalopathy
p.Gln415= Single submitter Early Myoclonic Encephalopathy
p.Gln554= Single submitter Early Myoclonic Encephalopathy
p.Glu110= Single submitter Early Myoclonic Encephalopathy
p.Glu135= Single submitter Early Myoclonic Encephalopathy
p.Glu146= Single submitter Early Myoclonic Encephalopathy
p.Glu463= Single submitter Early Myoclonic Encephalopathy
p.Glu71= Single submitter Early Myoclonic Encephalopathy
p.Gly130= Single submitter Early Myoclonic Encephalopathy
p.Gly192= Single submitter Early Myoclonic Encephalopathy
p.Gly222= Single submitter Early Myoclonic Encephalopathy
p.Gly309= Single submitter Early Myoclonic Encephalopathy
p.Gly325= Single submitter Early Myoclonic Encephalopathy
p.Gly394= Single submitter Early Myoclonic Encephalopathy
p.Gly4= Single submitter Early Myoclonic Encephalopathy
p.Gly524= Single submitter Early Myoclonic Encephalopathy
p.Gly68= Single submitter Early Myoclonic Encephalopathy
p.Ile112= Single submitter Early Myoclonic Encephalopathy
p.Ile128= Single submitter Early Myoclonic Encephalopathy
p.Ile17= Single submitter Early Myoclonic Encephalopathy
p.Ile195= Single submitter Early Myoclonic Encephalopathy
p.Ile200= Single submitter Early Myoclonic Encephalopathy
p.Ile270= Single submitter Early Myoclonic Encephalopathy
p.Ile357= Single submitter Early Myoclonic Encephalopathy
p.Ile365= Single submitter Early Myoclonic Encephalopathy
p.Ile389= Single submitter Early Myoclonic Encephalopathy
p.Ile398= Single submitter Early Myoclonic Encephalopathy
p.Ile91= Single submitter Early Myoclonic Encephalopathy
p.Leu185= Single submitter Early Myoclonic Encephalopathy
p.Leu232= Single submitter Early Myoclonic Encephalopathy
p.Leu248= Single submitter Early Myoclonic Encephalopathy
p.Leu310= Single submitter Early Myoclonic Encephalopathy
p.Leu313= Single submitter Early Myoclonic Encephalopathy
p.Leu317= Single submitter Early Myoclonic Encephalopathy
p.Leu331= Single submitter Early Myoclonic Encephalopathy
p.Leu392= Single submitter Early Myoclonic Encephalopathy
p.Leu556= Single submitter Early Myoclonic Encephalopathy
p.Leu66= Single submitter Early Myoclonic Encephalopathy
p.Leu9= Single submitter Early Myoclonic Encephalopathy
p.Lys318= Single submitter Early Myoclonic Encephalopathy
p.Lys347= Single submitter
p.Lys36= Single submitter Early Myoclonic Encephalopathy
p.Phe11Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe122= Single submitter Early Myoclonic Encephalopathy
p.Phe194= Single submitter Early Myoclonic Encephalopathy
p.Phe326= Single submitter Early Myoclonic Encephalopathy
p.Phe338= Single submitter Early Myoclonic Encephalopathy
p.Phe409= Single submitter Early Myoclonic Encephalopathy
p.Pro107= Single submitter Early Myoclonic Encephalopathy
p.Pro208= Single submitter Early Myoclonic Encephalopathy
p.Pro213= Single submitter Early Myoclonic Encephalopathy
p.Pro568= Single submitter Early Myoclonic Encephalopathy
p.Pro591= Single submitter Early Myoclonic Encephalopathy
p.Pro601= Single submitter Early Myoclonic Encephalopathy
p.Pro608= Single submitter Early Myoclonic Encephalopathy
p.Pro78= Single submitter Early Myoclonic Encephalopathy
p.Ser160= Single submitter Early Myoclonic Encephalopathy
p.Ser304= Single submitter Early Myoclonic Encephalopathy
p.Ser330= Single submitter Early Myoclonic Encephalopathy
p.Ser350= Single submitter Early Myoclonic Encephalopathy
p.Ser352= Single submitter Early Myoclonic Encephalopathy
p.Ser356= Single submitter Early Myoclonic Encephalopathy
p.Ser388= Single submitter Early Myoclonic Encephalopathy
p.Ser391= Single submitter Early Myoclonic Encephalopathy
p.Ser438= Single submitter Early Myoclonic Encephalopathy
p.Ser440= Single submitter Early Myoclonic Encephalopathy
p.Ser460= Single submitter Early Myoclonic Encephalopathy
p.Ser557= Single submitter Early Myoclonic Encephalopathy
p.Ser599= Single submitter Early Myoclonic Encephalopathy
p.Ter631= Single submitter Early Myoclonic Encephalopathy
p.Thr156= Single submitter Early Myoclonic Encephalopathy
p.Thr182= Single submitter Early Myoclonic Encephalopathy
p.Thr191= Single submitter Early Myoclonic Encephalopathy
p.Thr234= Single submitter Early Myoclonic Encephalopathy
p.Thr488= Single submitter Early Myoclonic Encephalopathy
p.Thr508= Single submitter
p.Thr558= Single submitter Early Myoclonic Encephalopathy
p.Thr58= Single submitter Early Myoclonic Encephalopathy
p.Thr594= Single submitter Early Myoclonic Encephalopathy
p.Thr606= Single submitter Early Myoclonic Encephalopathy
p.Thr65= Single submitter Early Myoclonic Encephalopathy
p.Tyr106= Single submitter Early Myoclonic Encephalopathy
p.Tyr134= Single submitter Early Myoclonic Encephalopathy
p.Tyr255= Single submitter Early Myoclonic Encephalopathy
p.Tyr83= Single submitter Early Myoclonic Encephalopathy
p.Tyr99= Single submitter Early Myoclonic Encephalopathy
p.Val186= Single submitter Early Myoclonic Encephalopathy
p.Val242= Single submitter Early Myoclonic Encephalopathy
p.Val258= Single submitter Early Myoclonic Encephalopathy
p.Val290= Single submitter Early Myoclonic Encephalopathy
p.Val297= Single submitter Early Myoclonic Encephalopathy
p.Val498= Single submitter Early Myoclonic Encephalopathy

Uncertain significance 271

c.1374+3A>G Multiple submitters Early Myoclonic Encephalopathy
c.1468-3C>T Multiple submitters Early Myoclonic Encephalopathy
p.Ala145Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala167Arg Multiple submitters Early Myoclonic Encephalopathy
p.Ala321Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala399Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg147His Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg449Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg533Ter Multiple submitters Early Myoclonic Encephalopathy
p.Asp150Glu Multiple submitters Inborn genetic diseases
p.Asp153Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp612Asn Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp90His Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gly210Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His77Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys217Arg Multiple submitters Inborn genetic diseases ⚠
p.Met20Ile Multiple submitters Inborn genetic diseases ⚠
p.Met333Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Met580Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro178Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro26Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro512Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser352Thr Multiple submitters Inborn genetic diseases ⚠
p.Tyr189Cys Multiple submitters neurodevelopmental disorder ⚠
p.Tyr274fs Multiple submitters Early Myoclonic Encephalopathy
p.Val22Leu Multiple submitters Inborn genetic diseases
p.Val5Met Multiple submitters Inborn genetic diseases ⚠
p.Val625Phe Multiple submitters Inborn genetic diseases
c.1115+4G>C Single submitter Early Myoclonic Encephalopathy
c.1116-3C>A Single submitter Early Myoclonic Encephalopathy
c.1278+1G>A Single submitter
c.1279-2A>G Single submitter Early Myoclonic Encephalopathy
c.1374+6A>C Single submitter Early Myoclonic Encephalopathy
c.1375-13_1375-12delinsAA Single submitter Early Myoclonic Encephalopathy
c.1375-2A>C Single submitter Early Myoclonic Encephalopathy
c.1375-3C>G Single submitter Early Myoclonic Encephalopathy
c.1715+1G>C Single submitter Early Myoclonic Encephalopathy
c.1715+3A>G Single submitter Early Myoclonic Encephalopathy
p.Ala120Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala14Val Single submitter Inborn genetic diseases ⚠
p.Ala152Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala157Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala157Val Single submitter Inborn genetic diseases ⚠
p.Ala161Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala226Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala235Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala251Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala2Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala339Thr Single submitter KCND2-related neurodevelopmental disorder ⚠
p.Ala345Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala360Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala382Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala3Val Single submitter
p.Ala431Asp Single submitter ⚠
p.Ala435Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala441Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala507_Thr508insLys Single submitter Early Myoclonic Encephalopathy
p.Ala507Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala543Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala6Glu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala6Gly Single submitter Early Myoclonic Encephalopathy
p.Ala6Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala7_Trp8insGlyValAlaAla Single submitter
p.Ala7Glu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala7Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg100Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg108Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg108His Single submitter Early Myoclonic Encephalopathy
p.Arg170Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg224Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg256Leu Single submitter Inborn genetic diseases ⚠
p.Arg259His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg296Gln Single submitter ⚠
p.Arg305His Single submitter ⚠
p.Arg311Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg32Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg35Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg37Lys Single submitter ⚠
p.Arg411His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg418Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg418Ter Single submitter Early Myoclonic Encephalopathy
p.Arg432Met Single submitter ⚠
p.Arg434Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg434Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg449Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg449Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg511Ser Single submitter Inborn genetic diseases ⚠
p.Arg51Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg532Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg533del Single submitter
p.Arg539Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg539His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg562Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg562Thr Single submitter Inborn genetic diseases ⚠
p.Arg613Gly Single submitter ⚠
p.Arg626fs Single submitter
p.Arg72Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg87Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg93His Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn282Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn416Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn442Asp Single submitter Inborn genetic diseases ⚠
p.Asn450Ile Single submitter Early Myoclonic Encephalopathy
p.Asn510Tyr Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn544Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp116Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp131Glu Single submitter ⚠
p.Asp151Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp153Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp281Asn Single submitter Inborn genetic diseases ⚠
p.Asp284fs Single submitter Early Myoclonic Encephalopathy
p.Asp57Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp611Glu Single submitter KCND2-associated neurodevelopmental syndrome ⚠
p.Asp64Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Cys231del Single submitter Early Myoclonic Encephalopathy
p.Cys236Tyr Single submitter ⚠
p.Cys529Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln39Glu Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln523del Single submitter Early Myoclonic Encephalopathy
p.Gln523Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln53His Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln53Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln590Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Gln81fs Single submitter
p.Gln82Ter Single submitter Early Myoclonic Encephalopathy
p.Glu135Ter Single submitter Early Myoclonic Encephalopathy
p.Glu136Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu218Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu223Ter Single submitter Early Myoclonic Encephalopathy
p.Glu486Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu492Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu492Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu496Lys Single submitter Early Myoclonic Encephalopathy
p.Glu555Ter Single submitter
p.Glu565Ala Single submitter ⚠
p.Glu582Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu582Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu609Lys Single submitter ⚠
p.Glu79Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly130Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly18Arg Single submitter ⚠
p.Gly325Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly348Arg Single submitter Inborn genetic diseases ⚠
p.Gly439Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly471Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly4Ala Single submitter Inborn genetic diseases ⚠
p.Gly551Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly621Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly621Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly621Glu Single submitter Early Myoclonic Encephalopathy ⚠
p.His109Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.His179Arg Single submitter ⚠
p.His179Tyr Single submitter
p.His478Arg Single submitter KCND2-related neurodevelopmental disorder ⚠
p.His478Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.His483Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.His483Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.His491Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.His534Tyr Single submitter Early Myoclonic Encephalopathy ⚠
p.His549Tyr Single submitter Inborn genetic diseases ⚠
p.His77Gln Single submitter ⚠
p.His77Tyr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile129Met Single submitter Inborn genetic diseases ⚠
p.Ile129Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile195Ser Single submitter ⚠
p.Ile216Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile216Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile216Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile239Ser Single submitter Inborn genetic diseases ⚠
p.Ile335Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile335Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile91fs Single submitter Early Myoclonic Encephalopathy
p.Ile91Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile95Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu119Pro Single submitter ⚠
p.Leu162Trp Single submitter ⚠
p.Leu245Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu317Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu453Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu457Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu556Phe Single submitter Early Myoclonic Encephalopathy ⚠
p.Lys36Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Lys427= Single submitter Early Myoclonic Encephalopathy
p.Lys448Arg Single submitter neurodevelopmental disorder ⚠
p.Lys487Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Lys535Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Met1Leu Single submitter Early Myoclonic Encephalopathy
p.Met20Val Single submitter Early Myoclonic Encephalopathy
p.Met342fs Single submitter Early Myoclonic Encephalopathy
p.Met445Thr Single submitter Inborn genetic diseases
p.Met504Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe121Ala Single submitter Early Myoclonic Encephalopathy
p.Phe229Ala Single submitter
p.Phe230del Single submitter Early Myoclonic Encephalopathy
p.Phe230Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe230Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe230Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe295Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe301Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe538Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Phe75Leu Single submitter ⚠
p.Pro208Ala Single submitter Inborn genetic diseases ⚠
p.Pro21Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro28Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro401Leu Single submitter ⚠
p.Pro568Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro63fs Single submitter Early Myoclonic Encephalopathy
p.Pro63Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser113Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser113Phe Single submitter Early Myoclonic Encephalopathy
p.Ser160Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser211Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser253Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser263Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser330Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser330Ter Single submitter Early Myoclonic Encephalopathy
p.Ser350Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser391Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser438Arg Single submitter Early Myoclonic Encephalopathy
p.Ser447Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser447Lys Single submitter Early Myoclonic Encephalopathy
p.Ser468Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser473Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser502Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser516Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser521Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser552Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser557Arg Single submitter Inborn genetic diseases ⚠
p.Ser599Arg Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr101Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr154Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr206Lys Single submitter ⚠
p.Thr280Arg Single submitter Inborn genetic diseases ⚠
p.Thr316Arg Single submitter KCND2-related disorder ⚠
p.Thr380Ile Single submitter ⚠
p.Thr489= Single submitter
p.Thr508Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr50Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr526Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr537fs Single submitter Early Myoclonic Encephalopathy
p.Thr537Pro Single submitter Inborn genetic diseases ⚠
p.Thr558Met Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr594Ser Single submitter ⚠
p.Thr602Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Trp362Arg Single submitter ⚠
p.Trp362Ter Single submitter Early Myoclonic Encephalopathy
p.Trp55Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Tyr115Asp Single submitter ⚠
p.Tyr274Cys Single submitter ⚠
p.Tyr363Cys Single submitter KCND2-related neurodevelopmental disorder ⚠
p.Tyr413Cys Single submitter ⚠
p.Tyr619Ter Single submitter Early Myoclonic Encephalopathy
p.Tyr99Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Val171Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Val190Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Val197Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Val197Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Val197Phe Single submitter Inborn genetic diseases ⚠
p.Val242Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Val278Met Single submitter Early Myoclonic Encephalopathy ⚠
p.Val285Ile Single submitter ⚠
p.Val44Met Single submitter Early Myoclonic Encephalopathy ⚠
p.Val498Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Val506Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Val506Phe Single submitter Early Myoclonic Encephalopathy ⚠
p.Val5Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Val605Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Val625Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Val627Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg51Gly No assertion criteria
p.Gln590His No assertion criteria KCND2-related disorder ⚠