KCNT2 — 366 ClinVar variants
All ClinVar germline KCNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →
4 Pathogenic · 13 Likely pathogenic · 6 Conflicting · 2 Benign · 88 Likely benign · 253 Uncertain significance
Full KCNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 212
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCNT2 p.Ser1005Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KCNT2 p.Thr242Asn
Conflicting
Single submitter
Inborn genetic diseases
-
KCNT2 p.Val493Ala
Conflicting
Single submitter
developmental and epileptic encephalopathy, 57
Predictors lean, ClinVar uncertain 158
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 158
-
KCNT2 p.Ala609Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Arg879Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Asn29Lys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Cys484Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Leu116Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Leu536Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Met807Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Pro103Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Pro540Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Ser1029Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Tyr708Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNT2 p.Ala1018Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ala1053Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Ala147Ser Uncertain significance Single submitter
- KCNT2 p.Ala173Val Uncertain significance Single submitter
- KCNT2 p.Ala266Pro Uncertain significance Single submitter
- KCNT2 p.Ala296Ser Uncertain significance Single submitter
-
KCNT2 p.Ala817Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg1046Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Arg1092Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg1130Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg387Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg63Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg997His
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Asn1042Ser Uncertain significance Single submitter
- KCNT2 p.Asn161Asp Uncertain significance Single submitter
-
KCNT2 p.Asn29Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Asn487Lys Uncertain significance Single submitter
- KCNT2 p.Asn565Ser Uncertain significance Single submitter
- KCNT2 p.Asn844Ser Uncertain significance Single submitter
-
KCNT2 p.Asn99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Asp1075Gly Uncertain significance Single submitter
-
KCNT2 p.Asp1097Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Asp30Glu Uncertain significance Single submitter
- KCNT2 p.Asp30His Uncertain significance Single submitter
-
KCNT2 p.Asp377Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Asp391His Uncertain significance Single submitter
-
KCNT2 p.Asp396Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Asp637Tyr Uncertain significance Single submitter
-
KCNT2 p.Asp658Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Asp802Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Asp854Asn Uncertain significance Single submitter
-
KCNT2 p.Asp894Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Asp904Val Uncertain significance Single submitter
- KCNT2 p.Asp985Asn Uncertain significance Single submitter
- KCNT2 p.Cys170Arg Uncertain significance Single submitter
-
KCNT2 p.Cys381Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Cys449Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Cys449Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Cys606Tyr Uncertain significance Single submitter
- KCNT2 p.Cys769Tyr Uncertain significance Single submitter
-
KCNT2 p.Gln1039Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Gln1050His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Gln273Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Gln34Pro Uncertain significance Single submitter
-
KCNT2 p.Gln602Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Glu619Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Glu623Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Glu666Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Glu91Asp Uncertain significance Single submitter
- KCNT2 p.Glu962Lys Uncertain significance Single submitter
-
KCNT2 p.Glu978Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Gly1069Glu Uncertain significance Single submitter
- KCNT2 p.Gly467Arg Uncertain significance Single submitter
- KCNT2 p.Gly520Asp Uncertain significance Single submitter
- KCNT2 p.Gly539Val Uncertain significance Single submitter
-
KCNT2 p.Gly620Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Gly670Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Gly731Arg Uncertain significance Single submitter
- KCNT2 p.Gly915Val Uncertain significance Single submitter
-
KCNT2 p.Gly921Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Gly957Glu Uncertain significance Single submitter
- KCNT2 p.His1007Pro Uncertain significance Single submitter
-
KCNT2 p.His219Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.His397Asp Uncertain significance Single submitter
-
KCNT2 p.His94Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ile141Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ile181Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ile188Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Ile203Val Uncertain significance Single submitter
- KCNT2 p.Ile272Thr Uncertain significance Single submitter
- KCNT2 p.Ile400Thr Uncertain significance Single submitter
-
KCNT2 p.Ile543Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ile890Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Ile930Asn Uncertain significance Single submitter
- KCNT2 p.Ile956Thr Uncertain significance Single submitter
-
KCNT2 p.Leu1095Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Leu162Val Uncertain significance Single submitter
- KCNT2 p.Leu200Phe Uncertain significance Single submitter
-
KCNT2 p.Leu370Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Leu384Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Leu4Trp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Leu601Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Leu749Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Leu756Trp Uncertain significance Single submitter
-
KCNT2 p.Leu916Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Lys691Asn Uncertain significance Single submitter
-
KCNT2 p.Lys719Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Lys866Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Lys866Glu Uncertain significance Single submitter
-
KCNT2 p.Lys984Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Met315Thr Uncertain significance Single submitter
- KCNT2 p.Met480Val Uncertain significance Single submitter
- KCNT2 p.Met773Leu Uncertain significance Single submitter
- KCNT2 p.Met807Lys Uncertain significance Single submitter
-
KCNT2 p.Met845Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Met877Ile Uncertain significance Single submitter
- KCNT2 p.Met892Arg Uncertain significance Single submitter
-
KCNT2 p.Pro411Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Pro422Ser Uncertain significance Single submitter
-
KCNT2 p.Pro582Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Pro627Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Pro745Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser1002Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser158Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser605Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser621Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Ser639Thr Uncertain significance Single submitter
- KCNT2 p.Ser675Phe Uncertain significance Single submitter
-
KCNT2 p.Ser675Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser6Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Ser702Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Ser73Thr Uncertain significance Single submitter
- KCNT2 p.Ser808Gly Uncertain significance Single submitter
- KCNT2 p.Ser831Pro Uncertain significance Single submitter
- KCNT2 p.Ser832Ile Uncertain significance Single submitter
- KCNT2 p.Ser93Cys Uncertain significance Single submitter
- KCNT2 p.Ser949Tyr Uncertain significance Single submitter
- KCNT2 p.Thr1000Ser Uncertain significance Single submitter
-
KCNT2 p.Thr1091Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Thr547Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Thr643Ile Uncertain significance Single submitter
- KCNT2 p.Thr655Ile Uncertain significance Single submitter
- KCNT2 p.Thr919Ala Uncertain significance Single submitter
-
KCNT2 p.Trp171Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Trp770Leu Uncertain significance Single submitter
- KCNT2 p.Tyr1044Cys Uncertain significance Single submitter
- KCNT2 p.Tyr1100Cys Uncertain significance Single submitter
- KCNT2 p.Tyr503His Uncertain significance Single submitter
-
KCNT2 p.Tyr677His
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Tyr733Cys Uncertain significance Single submitter
-
KCNT2 p.Tyr775Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Tyr944Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Val148Leu Uncertain significance Single submitter
- KCNT2 p.Val166Phe Uncertain significance Single submitter
-
KCNT2 p.Val342Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Val462Ile Uncertain significance Single submitter
- KCNT2 p.Val521Phe Uncertain significance Single submitter
-
KCNT2 p.Val526Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Val635Ile Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
-
KCNT2 p.Ala711Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Met892Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNT2 p.Ala941Asp Uncertain significance Single submitter
-
KCNT2 p.Arg1011Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg190His
Conflicting
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg293Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg326Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
-
KCNT2 p.Arg345Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Arg356Gln Uncertain significance Single submitter
- KCNT2 p.Asn179Tyr Uncertain significance Single submitter
- KCNT2 p.Asn750Ser Uncertain significance Single submitter
- KCNT2 p.Asp530Val Uncertain significance Single submitter
- KCNT2 p.Asp645Ala Uncertain significance Single submitter
-
KCNT2 p.Asp645Gly
Conflicting
Single submitter
Inborn genetic diseases
- KCNT2 p.Asp761Glu Uncertain significance Single submitter
-
KCNT2 p.Asp933Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Asp982Ala Uncertain significance Single submitter
-
KCNT2 p.Cys305Ser
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 57
- KCNT2 p.Gln343Arg Uncertain significance Single submitter
- KCNT2 p.Glu529Lys Uncertain significance Single submitter
- KCNT2 p.Glu690Gly Uncertain significance Single submitter
- KCNT2 p.His324Gln Uncertain significance Single submitter
- KCNT2 p.Ile629Thr Uncertain significance Single submitter
- KCNT2 p.Ile958Met Uncertain significance Single submitter
-
KCNT2 p.Leu1009Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Leu1107Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Leu69Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Leu826Val Likely benign Single submitter
-
KCNT2 p.Lys310Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Lys719Gln Uncertain significance Single submitter
-
KCNT2 p.Lys746Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Met480Arg Uncertain significance Single submitter
-
KCNT2 p.Met773Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Phe235Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Phe240Leu
Pathogenic
Single submitter
KCNT2-related disorder
-
KCNT2 p.Phe258Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Phe44Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Pro1106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Ser1005Trp Uncertain significance Single submitter
- KCNT2 p.Ser1120Asn Uncertain significance Single submitter
- KCNT2 p.Thr454Ile Uncertain significance Single submitter
-
KCNT2 p.Tyr124Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNT2 p.Tyr490His Uncertain significance Single submitter
- KCNT2 p.Tyr510His Uncertain significance Single submitter
- KCNT2 p.Tyr856Phe Uncertain significance Single submitter
-
KCNT2 p.Val33Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Val342Ala
Likely benign
Single submitter
Inborn genetic diseases
- KCNT2 p.Val347Leu Uncertain significance Single submitter
-
KCNT2 p.Val81Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNT2 p.Arg1040Leu
Likely benign
No assertion criteria
Seizure
-
KCNT2 p.Asn40Lys
Likely benign
No assertion criteria
KCNT2-related disorder
All KCNT2 variants
Pathogenic 4
- p.Leu48fs Multiple submitters Seizure
- p.Arg190Pro Single submitter developmental and epileptic encephalopathy, 57
- p.Gln198Glu Single submitter
- p.Phe240Leu Single submitter KCNT2-related disorder ⚠
Likely pathogenic 13
- c.175+1G>T Single submitter KCNT2-related disorder
- p.Ala187Asp Single submitter
- p.Arg137Ter Single submitter
- p.Cys305Ser Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Leu267His Single submitter developmental and epileptic encephalopathy, 57
- p.Leu415fs Single submitter developmental and epileptic encephalopathy, 57
- p.Lys366Glu Single submitter developmental and epileptic encephalopathy, 57
- p.Lys564Ter Single submitter Seizure
- p.Ser834fs Single submitter developmental and epileptic encephalopathy, 57
- p.Thr556Ile Single submitter developmental and epileptic encephalopathy, 57
- p.Trp404Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Tyr856Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Phe578fs No assertion criteria developmental and epileptic encephalopathy, 57
Conflicting classifications of pathogenicity 6
- p.Arg1019Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Arg190His Single submitter Inborn genetic diseases ⚠
- p.Asp645Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1005Leu Single submitter Inborn genetic diseases ⚠
- p.Thr242Asn Single submitter Inborn genetic diseases ⚠
- p.Val493Ala Single submitter developmental and epileptic encephalopathy, 57 ⚠
Benign 2
- p.Asp1003= Multiple submitters developmental and epileptic encephalopathy, 57
- c.2596-4150C>G Single submitter
Likely benign 88
- c.2910+8A>G Multiple submitters
- c.639-6C>A Multiple submitters
- c.639-7T>C Multiple submitters
- p.Arg1117Gln Multiple submitters Inborn genetic diseases
- p.Arg1130Gln Multiple submitters Inborn genetic diseases
- p.Arg528= Multiple submitters
- p.Asp894= Multiple submitters
- p.Gln704= Multiple submitters
- p.His580Arg Multiple submitters Inborn genetic diseases
- p.Leu360= Multiple submitters
- p.Leu756= Multiple submitters
- p.Pro772= Multiple submitters
- p.Ser640Leu Multiple submitters Inborn genetic diseases
- c.1122-12A>G Single submitter
- c.1185+17T>C Single submitter
- c.1554-18C>G Single submitter
- c.2103+12T>C Single submitter
- c.2277-11C>T Single submitter
- c.2348+15C>A Single submitter
- c.2349-9T>A Single submitter
- c.2595+12C>T Single submitter
- c.2595+7C>T Single submitter
- c.2596-19A>G Single submitter
- c.2698-21GTTT[2] Single submitter
- c.275+20C>T Single submitter
- c.2781+13T>G Single submitter
- c.2782-11G>A Single submitter
- c.2910+7361C>T Single submitter
- c.2910+7362G>A Single submitter
- c.2910+7375C>T Single submitter
- c.2910+7405del Single submitter
- c.2910+7410_2910+7413del Single submitter
- c.3211+17C>T Single submitter
- c.3212-4C>T Single submitter
- c.324+5T>G Single submitter
- c.325-8T>C Single submitter
- c.385-19A>G Single submitter
- c.544-15del Single submitter
- c.638+13A>T Single submitter
- c.639-16A>G Single submitter
- p.Ala815= Single submitter
- p.Arg61= Single submitter
- p.Asn822= Single submitter
- p.Cys336= Single submitter
- p.Gln569His Single submitter
- p.Glu1131= Single submitter
- p.Glu619= Single submitter
- p.Gly106= Single submitter
- p.Gly123Cys Single submitter Inborn genetic diseases
- p.Gly246= Single submitter
- p.Gly520= Single submitter
- p.His991= Single submitter
- p.Ile154= Single submitter
- p.Ile624Val Single submitter Inborn genetic diseases
- p.Ile79= Single submitter
- p.Ile973Met Single submitter Inborn genetic diseases
- p.Leu104= Single submitter
- p.Leu1052= Single submitter
- p.Leu200= Single submitter
- p.Leu754= Single submitter
- p.Leu826= Single submitter
- p.Leu826Val Single submitter ⚠
- p.Lys256Arg Single submitter Inborn genetic diseases
- p.Lys987Arg Single submitter Inborn genetic diseases
- p.Pro1111= Single submitter
- p.Pro842= Single submitter
- p.Ser126= Single submitter
- p.Ser473= Single submitter
- p.Ser485= Single submitter
- p.Ser577Leu Single submitter
- p.Ser628= Single submitter
- p.Ser640= Single submitter
- p.Ser805= Single submitter
- p.Thr239= Single submitter
- p.Thr655= Single submitter
- p.Tyr234= Single submitter
- p.Tyr481= Single submitter
- p.Tyr503= Single submitter
- p.Tyr510Cys Single submitter
- p.Val342Ala Single submitter Inborn genetic diseases ⚠
- p.Val521Ile Single submitter developmental and epileptic encephalopathy, 57
- p.Val692= Single submitter
- p.Val737Leu Single submitter
- p.Arg1040Leu No assertion criteria Seizure ⚠
- p.Asn40Lys No assertion criteria KCNT2-related disorder ⚠
- p.Leu1084= No assertion criteria KCNT2-related disorder
- p.Pro676= No assertion criteria KCNT2-related disorder
- p.Ter1136= No assertion criteria KCNT2-related disorder
Uncertain significance 253
- p.Ala609Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala711Val Multiple submitters developmental and epileptic encephalopathy, 57 ⚠
- p.Arg879Gln Multiple submitters developmental and epileptic encephalopathy, 57 ⚠
- p.Asn29Lys Multiple submitters developmental and epileptic encephalopathy, 57 ⚠
- p.Cys484Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu116Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu536Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met807Val Multiple submitters Inborn genetic diseases ⚠
- p.Met892Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro103Leu Multiple submitters developmental and epileptic encephalopathy, 57 ⚠
- p.Pro540Leu Multiple submitters developmental and epileptic encephalopathy, 57 ⚠
- p.Ser1029Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr708Cys Multiple submitters Inborn genetic diseases ⚠
- c.1116_1121+1del Single submitter
- c.1185+1G>C Single submitter
- c.1294+1G>T Single submitter
- c.1294+4A>C Single submitter
- c.1295-18C>T Single submitter developmental and epileptic encephalopathy, 57
- c.1997+7dup Single submitter
- c.1998-5T>C Single submitter Inborn genetic diseases
- c.2103+5G>C Single submitter
- c.2277-1G>C Single submitter
- c.2277-9A>G Single submitter developmental and epileptic encephalopathy, 57
- c.2910+7387T>C Single submitter
- c.543+6T>C Single submitter
- c.543+8T>A Single submitter
- p.Ala1018Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1053Thr Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Ala147Ser Single submitter ⚠
- p.Ala173Val Single submitter ⚠
- p.Ala266Pro Single submitter ⚠
- p.Ala296Ser Single submitter ⚠
- p.Ala405Ser Single submitter Inborn genetic diseases
- p.Ala501fs Single submitter
- p.Ala728Thr Single submitter
- p.Ala817Thr Single submitter Inborn genetic diseases ⚠
- p.Ala941Asp Single submitter ⚠
- p.Arg1011Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1046Lys Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Arg1092Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1130Trp Single submitter Inborn genetic diseases ⚠
- p.Arg293Gln Single submitter Inborn genetic diseases ⚠
- p.Arg326Gly Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Arg345Gln Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Arg345Ter Single submitter
- p.Arg356Gln Single submitter ⚠
- p.Arg387Cys Single submitter Inborn genetic diseases ⚠
- p.Arg541Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Arg63Cys Single submitter Inborn genetic diseases ⚠
- p.Arg997His Single submitter Inborn genetic diseases ⚠
- p.Asn1042Ser Single submitter ⚠
- p.Asn161Asp Single submitter ⚠
- p.Asn179Tyr Single submitter ⚠
- p.Asn29Ser Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Asn487Lys Single submitter ⚠
- p.Asn565Ser Single submitter ⚠
- p.Asn750Ser Single submitter ⚠
- p.Asn844Ser Single submitter ⚠
- p.Asn99Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1075Gly Single submitter ⚠
- p.Asp1097Asn Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Asp30Glu Single submitter ⚠
- p.Asp30His Single submitter ⚠
- p.Asp377Glu Single submitter Inborn genetic diseases ⚠
- p.Asp391His Single submitter ⚠
- p.Asp396Gly Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Asp530Val Single submitter ⚠
- p.Asp637Tyr Single submitter ⚠
- p.Asp645Ala Single submitter ⚠
- p.Asp658Glu Single submitter Inborn genetic diseases ⚠
- p.Asp761Glu Single submitter ⚠
- p.Asp802Ala Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Asp854Asn Single submitter ⚠
- p.Asp894Asn Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Asp904Val Single submitter ⚠
- p.Asp933Asn Single submitter Inborn genetic diseases ⚠
- p.Asp982Ala Single submitter ⚠
- p.Asp985Asn Single submitter ⚠
- p.Cys170Arg Single submitter ⚠
- p.Cys381Ser Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Cys449Ser Single submitter Inborn genetic diseases ⚠
- p.Cys449Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys484Ter Single submitter
- p.Cys606Tyr Single submitter ⚠
- p.Cys769Ser Single submitter
- p.Cys769Tyr Single submitter ⚠
- p.Gln1039Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1050His Single submitter Inborn genetic diseases ⚠
- p.Gln108= Single submitter Mild global developmental delay
- p.Gln273Pro Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Gln276fs Single submitter developmental and epileptic encephalopathy, 57
- p.Gln343Arg Single submitter ⚠
- p.Gln343Ter Single submitter
- p.Gln34Pro Single submitter ⚠
- p.Gln476Ter Single submitter
- p.Gln602Glu Single submitter Inborn genetic diseases ⚠
- p.Glu1072Ter Single submitter
- p.Glu529Lys Single submitter ⚠
- p.Glu619Asp Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Glu623Ala Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Glu666Gln Single submitter Inborn genetic diseases ⚠
- p.Glu690Gly Single submitter ⚠
- p.Glu748Asp Single submitter Inborn genetic diseases
- p.Glu91Asp Single submitter ⚠
- p.Glu962Lys Single submitter ⚠
- p.Glu978Gly Single submitter Inborn genetic diseases ⚠
- p.Gly1064Ser Single submitter
- p.Gly1069Glu Single submitter ⚠
- p.Gly288Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Gly467Arg Single submitter ⚠
- p.Gly520Asp Single submitter ⚠
- p.Gly539Val Single submitter ⚠
- p.Gly620Arg Single submitter Inborn genetic diseases ⚠
- p.Gly670Cys Single submitter Inborn genetic diseases ⚠
- p.Gly731Arg Single submitter ⚠
- p.Gly915Val Single submitter ⚠
- p.Gly921Arg Single submitter Inborn genetic diseases ⚠
- p.Gly957Glu Single submitter ⚠
- p.His1007Pro Single submitter ⚠
- p.His219Arg Single submitter Inborn genetic diseases ⚠
- p.His324Gln Single submitter ⚠
- p.His397Asp Single submitter ⚠
- p.His94Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile141Val Single submitter Inborn genetic diseases ⚠
- p.Ile145fs Single submitter developmental and epileptic encephalopathy, 57
- p.Ile181Thr Single submitter Inborn genetic diseases ⚠
- p.Ile188Asn Single submitter Inborn genetic diseases ⚠
- p.Ile203Val Single submitter ⚠
- p.Ile272Thr Single submitter ⚠
- p.Ile400Thr Single submitter ⚠
- p.Ile53fs Single submitter
- p.Ile543Val Single submitter Inborn genetic diseases ⚠
- p.Ile629Thr Single submitter ⚠
- p.Ile768fs Single submitter
- p.Ile890Thr Single submitter Inborn genetic diseases ⚠
- p.Ile930Asn Single submitter ⚠
- p.Ile956Thr Single submitter ⚠
- p.Ile958Met Single submitter ⚠
- p.Leu1009Ser Single submitter Inborn genetic diseases ⚠
- p.Leu1095Met Single submitter Inborn genetic diseases ⚠
- p.Leu1101fs Single submitter developmental and epileptic encephalopathy, 57
- p.Leu1107Arg Single submitter Inborn genetic diseases ⚠
- p.Leu162Val Single submitter ⚠
- p.Leu200Phe Single submitter ⚠
- p.Leu370Arg Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Leu384Pro Single submitter Inborn genetic diseases ⚠
- p.Leu4Trp Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Leu535Trp Single submitter Inborn genetic diseases
- p.Leu601Met Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Leu69Phe Single submitter Inborn genetic diseases ⚠
- p.Leu749Phe Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Leu756Trp Single submitter ⚠
- p.Leu756Val Single submitter
- p.Leu765Val Single submitter Inborn genetic diseases
- p.Leu916Pro Single submitter Inborn genetic diseases ⚠
- p.Lys310Thr Single submitter Inborn genetic diseases ⚠
- p.Lys421= Single submitter
- p.Lys45Ter Single submitter
- p.Lys691Asn Single submitter ⚠
- p.Lys719Asn Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Lys719Gln Single submitter ⚠
- p.Lys746Asn Single submitter Inborn genetic diseases ⚠
- p.Lys866Arg Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Lys866Glu Single submitter ⚠
- p.Lys946Ter Single submitter developmental and epileptic encephalopathy, 57
- p.Lys984fs Single submitter
- p.Lys984Glu Single submitter Inborn genetic diseases ⚠
- p.Met315Thr Single submitter ⚠
- p.Met444fs Single submitter
- p.Met480Arg Single submitter ⚠
- p.Met480Val Single submitter ⚠
- p.Met773Leu Single submitter ⚠
- p.Met773Val Single submitter Inborn genetic diseases ⚠
- p.Met777fs Single submitter
- p.Met807Lys Single submitter ⚠
- p.Met845Arg Single submitter Inborn genetic diseases ⚠
- p.Met877Ile Single submitter ⚠
- p.Met892Arg Single submitter ⚠
- p.Phe235Leu Single submitter Inborn genetic diseases ⚠
- p.Phe258Leu Single submitter Inborn genetic diseases ⚠
- p.Phe44Leu Single submitter Inborn genetic diseases ⚠
- p.Phe499Ile Single submitter Inborn genetic diseases
- p.Phe499Tyr Single submitter
- p.Pro1106Ser Single submitter Inborn genetic diseases ⚠
- p.Pro337Ser Single submitter
- p.Pro411Ala Single submitter Inborn genetic diseases ⚠
- p.Pro422Ser Single submitter ⚠
- p.Pro582Leu Single submitter Inborn genetic diseases ⚠
- p.Pro617fs Single submitter
- p.Pro627Ala Single submitter Inborn genetic diseases ⚠
- p.Pro673His Single submitter
- p.Pro745Gln Single submitter
- p.Pro745Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1002Asn Single submitter Inborn genetic diseases ⚠
- p.Ser1005Trp Single submitter ⚠
- p.Ser1120Asn Single submitter ⚠
- p.Ser158Phe Single submitter Inborn genetic diseases ⚠
- p.Ser512Cys Single submitter
- p.Ser605Asn Single submitter Inborn genetic diseases ⚠
- p.Ser621Asn Single submitter Inborn genetic diseases ⚠
- p.Ser639Thr Single submitter ⚠
- p.Ser675Phe Single submitter ⚠
- p.Ser675Pro Single submitter Inborn genetic diseases ⚠
- p.Ser6Asn Single submitter Inborn genetic diseases ⚠
- p.Ser702Arg Single submitter Inborn genetic diseases ⚠
- p.Ser73Thr Single submitter ⚠
- p.Ser805Gly Single submitter
- p.Ser808Gly Single submitter ⚠
- p.Ser831Pro Single submitter ⚠
- p.Ser832Ile Single submitter ⚠
- p.Ser908Tyr Single submitter
- p.Ser93Cys Single submitter ⚠
- p.Ser949Tyr Single submitter ⚠
- p.Thr1000Ser Single submitter ⚠
- p.Thr1091Ile Single submitter Inborn genetic diseases ⚠
- p.Thr454Ile Single submitter ⚠
- p.Thr498= Single submitter
- p.Thr547Ala Single submitter Inborn genetic diseases ⚠
- p.Thr643Ile Single submitter ⚠
- p.Thr655Ile Single submitter ⚠
- p.Thr919Ala Single submitter ⚠
- p.Trp171Arg Single submitter Inborn genetic diseases ⚠
- p.Trp770Leu Single submitter ⚠
- p.Tyr1044Cys Single submitter ⚠
- p.Tyr1100Cys Single submitter ⚠
- p.Tyr124Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr490His Single submitter ⚠
- p.Tyr503His Single submitter ⚠
- p.Tyr510His Single submitter ⚠
- p.Tyr677His Single submitter Inborn genetic diseases ⚠
- p.Tyr733Cys Single submitter ⚠
- p.Tyr775Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr856Phe Single submitter ⚠
- p.Tyr944Cys Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Val148Leu Single submitter ⚠
- p.Val166Phe Single submitter ⚠
- p.Val33Gly Single submitter Inborn genetic diseases ⚠
- p.Val342Leu Single submitter Inborn genetic diseases ⚠
- p.Val347Leu Single submitter ⚠
- p.Val462Ile Single submitter ⚠
- p.Val521Phe Single submitter ⚠
- p.Val526Ile Single submitter Inborn genetic diseases ⚠
- p.Val635Ile Single submitter ⚠
- p.Val635Leu Single submitter ⚠
- p.Val692Ala Single submitter Inborn genetic diseases ⚠
- p.Val737Phe Single submitter Inborn genetic diseases ⚠
- p.Val774Ala Single submitter ⚠
- p.Val774Phe Single submitter developmental and epileptic encephalopathy, 57 ⚠
- p.Val799fs Single submitter
- p.Val81Ala Single submitter Inborn genetic diseases ⚠
- p.Arg1020Lys No assertion criteria KCNT2-related disorder ⚠
- p.Arg740Lys No assertion criteria KCNT2-related disorder ⚠
- p.Leu371Phe No assertion criteria KCNT2-related disorder ⚠