Sugi Variant

Sugi Variant/KCNMA1

KCNMA1 — 1537 ClinVar variants

All ClinVar germline KCNMA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 491 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 84 Conflicting · 77 Benign · 21 Benign/Likely benign · 592 Likely benign · 712 Uncertain significance

Full KCNMA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 491

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 330

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 330

Predictors split 143

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

All KCNMA1 variants

Pathogenic 19

  • p.Asn1053Ser Multiple submitters Epileptic encephalopathy
  • p.Ala314Thr Single submitter
  • p.Arg458Ter Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Arg830Ter Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asn929fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp434Gly Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gln967Ter Single submitter Liang-Wang syndrome
  • p.Gly375Trp Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.His841fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile1076fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu102fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu429fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Lys480fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Phe623fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Phe99fs Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser351Thr Single submitter ⚠
  • p.Tyr676fs Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Glu942Lys No assertion criteria generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser351Tyr No assertion criteria Liang-Wang syndrome

Pathogenic/Likely pathogenic 3

Likely pathogenic 29

  • p.Gly376Val Multiple submitters KCNMA1-related disorder
  • c.1334+1G>T Single submitter Liang-Wang syndrome
  • c.1749+2T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+1G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+2T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+1G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+742_378+743insT Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.540+1G>A Single submitter
  • c.697-1G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala378Ser Single submitter KCNMA1-related disorder
  • p.Ala946fs Single submitter KCNMA1-related disorder
  • p.Arg640Ter Single submitter
  • p.Asn949Ser Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp357Gly Single submitter Inborn genetic diseases
  • p.Gly356Ala Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly567Ser Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Leu192Ile Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu568Pro Single submitter Liang-Wang syndrome
  • p.Lys124fs Single submitter
  • p.Met700fs Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Phe615Leu Single submitter autism spectrum disorder
  • p.Pro72_Val73insTer Single submitter KCNMA1-related disorder
  • p.Ser1208Phe Single submitter epilepsy ⚠
  • p.Ser725fs Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Thr352Ala Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr603Ala Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Trp540Ter Single submitter
  • p.Val258fs Single submitter KCNMA1-related disorder
  • p.Ser11fs No assertion criteria generalized epilepsy-paroxysmal dyskinesia syndrome

Conflicting classifications of pathogenicity 84

  • c.1131+13C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-4T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-6G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+11G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1749+6G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1750-3T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-4G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2267-4486C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2484+9G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+15T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+6T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3148-8T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+10C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+767C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.602+12A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.603-5A>G Single submitter Inborn genetic diseases
  • c.884+15G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.-25C>T Single submitter cerebellar atrophy, developmental delay, and seizures
  • c.*394C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala1049= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala1111= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala138= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala138Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala172Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala276Pro Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala403= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala560= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala946= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg1218= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg1235Gln Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg24= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg275= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg640Gln Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg865Cys Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg989Cys Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn1217Ser Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn237= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp1008Asn Single submitter intellectual disability ⚠
  • p.Asp1018Asn Single submitter KCNMA1-related disorder ⚠
  • p.Asp238Asn Single submitter Liang-Wang syndrome ⚠
  • p.Asp435= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp547= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp800Tyr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp849= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Glu1233Lys Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Glu63Gln Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly1183Ser Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly18= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly18_Gly20dup Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly19_Gly20dup Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly20dup Single submitter Inborn genetic diseases
  • p.Gly270Asp Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly354Ser Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly406= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly5_Gly6insSer Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly8= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.His30Arg Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.His409= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.His444= Single submitter epilepsy, idiopathic generalized, susceptibility to, 16
  • p.Ile1157= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile1209= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile521= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile663= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile663Val Single submitter Liang-Wang syndrome ⚠
  • p.Leu429= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu629= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Lys898Arg Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro257= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro64= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro761= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser11_Gly16dup Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser11_Gly17del Single submitter cerebellar atrophy, developmental delay, and seizures
  • p.Ser12_Gly16del Single submitter Inborn genetic diseases
  • p.Ser161= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser469= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser57_Ser60del Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser57_Ser60dup Single submitter Inborn genetic diseases
  • p.Ser60Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser982= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr1050= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr352= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr812= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr892Met Single submitter Inborn genetic diseases ⚠
  • p.Val837= Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome

Benign 77

Benign/Likely benign 21

  • c.1593+18C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1749+11G>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2015+7G>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2484+7G>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 16
  • c.2710-19dup Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3462-10C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.961-13C>G Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala315= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asn1080= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp1017= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly848= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.His30= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile440= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Phe229= Multiple submitters Liang-Wang syndrome
  • p.Pro1089= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro979= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser12Gly Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser48= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser60dup Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr1065= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Val842= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome

Likely benign 592

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

  • c.1131+41G>T Multiple submitters
  • c.1224-14C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-11C>T Multiple submitters cerebellar atrophy, developmental delay, and seizures
  • c.1593+10C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1594-154G>A Multiple submitters
  • c.1749+12T>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1859+64A>G Multiple submitters
  • c.1859+9C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-151C>T Multiple submitters
  • c.1860-20G>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+10C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+16C>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+19A>G Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+2542A>G Multiple submitters
  • c.1929-19_1929-16del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2015+18A>G Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2015+38G>A Multiple submitters
  • c.2360+11G>C Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2360+97C>T Multiple submitters
  • c.2484+1659G>A Multiple submitters
  • c.2485-41C>T Multiple submitters
  • c.2902+19A>G Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+8C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+1103C>T Multiple submitters
  • c.3016+73G>T Multiple submitters
  • c.3147+10C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+16C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+17G>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3615-6C>A Multiple submitters
  • c.378+266G>A Multiple submitters
  • c.378+771G>C Multiple submitters
  • c.378+808C>A Multiple submitters
  • c.379-89848G>A Multiple submitters
  • c.541-69A>G Multiple submitters
  • c.602+17A>G Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.697-100A>G Multiple submitters
  • c.697-6C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.809-28T>G Multiple submitters
  • c.884+14C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.885-16G>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.961-115G>A Multiple submitters
  • c.*2183C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*321C>T Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala153= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala154= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala166= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala500= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg1099= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg579= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asn1007= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asn772= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Cys121= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Cys413= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Cys495= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gln760= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gln84= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly13= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly4= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile644= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile823= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile917= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile959= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu1106= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu1145= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu1166= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu277= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu374= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu476= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Leu938= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Phe610= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro448= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro498= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro517= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Pro863= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser1048= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser171= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser261= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser402= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser59_Ser60del Multiple submitters Inborn genetic diseases
  • p.Ser60del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser852= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr1036= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr1069= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr1169= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr254= Multiple submitters Inborn genetic diseases
  • p.Thr310= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Thr362= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Val850Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Val96= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1131+11A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1131+15T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1131+20A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1132-10A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1132-20T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1132-5C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1223+10C>G Single submitter
  • c.1223+121C>T Single submitter
  • c.1223+17G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1223+59dup Single submitter
  • c.1224-13C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-15G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-197C>T Single submitter
  • c.1224-8C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-9C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+12C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+16T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+19T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+19T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+20G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1334+325C>A Single submitter
  • c.1334+8C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1335-11T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1335-14C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1335-6G>A Single submitter
  • c.1335-6G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1335-8C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1440+169G>C Single submitter
  • c.1440+16T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-15C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-6T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-7G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-9G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+12G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+14C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+15G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+17T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+19C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+20G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+7C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1523+9T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1524-16G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1524-19T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1524-20A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+11G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+17C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+19G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+19G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+7G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+9G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1594-19C>T Single submitter
  • c.1594-20A>G Single submitter
  • c.1594-6C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1749+16A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1749+8971T>G Single submitter
  • c.1750-12C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1750-15_1750-14del Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1750-6C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1859+10C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1859+9C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-12A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-14C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-20G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-215T>C Single submitter
  • c.1860-236A>C Single submitter
  • c.1860-7A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+10_1928+11insT Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+11G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+11G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+8T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1928+9G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1929-18T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2015+10T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2015+161T>C Single submitter
  • c.2015+20T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2016-15A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2016-18T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2016-20T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2016-509C>T Single submitter
  • c.2016-6C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+10G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+11T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+19C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+20C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+3775G>A Single submitter
  • c.2092+9T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2093-9C>T Single submitter
  • c.2266+213G>A Single submitter
  • c.2267-10G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2267-10G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2267-14G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2267-19G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2267-265_2267-263del Single submitter
  • c.2267-267_2267-263del Single submitter
  • c.2267-4454G>A Single submitter
  • c.2267-4469A>G Single submitter
  • c.2267-4510G>A Single submitter
  • c.2267-7T>C Single submitter
  • c.2267-8A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2360+11G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2360+133G>A Single submitter
  • c.2360+13G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2360+18T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2361-13C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2361-15T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2361-19C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2361-304G>A Single submitter
  • c.2361-5C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2361-8C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2484+1307G>A Single submitter
  • c.2484+1630C>T Single submitter
  • c.2484+1674G>A Single submitter
  • c.2484+1710C>T Single submitter
  • c.2484+1764G>A Single submitter
  • c.2484+17G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2484+20T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2484+33G>A Single submitter
  • c.2485-10C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2485-11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2485-15T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2485-19C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2485-337A>G Single submitter
  • c.2485-6T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2709+10A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2709+12G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2709+17A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-12T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-14C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-16T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-17T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-20_2710-19insG Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+10G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+11C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+18T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+20C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+7A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2902+8C>G Single submitter
  • c.2903-11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2903-12C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2903-4C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2903-5A>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+10A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+1119C>T Single submitter
  • c.3016+13G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+17G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+18C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+339T>C Single submitter
  • c.3016+787G>A Single submitter
  • c.3016+9C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3017-19T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3017-330A>C Single submitter
  • c.3017-5T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3017-9T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+13G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+14T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+19T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+20C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+277G>A Single submitter
  • c.3147+291A>T Single submitter
  • c.3148-10C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3148-17T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3148-34A>G Single submitter
  • c.3148-6C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+11A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+144T>C Single submitter
  • c.3342+20G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3342+8C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3343-15T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3343-17C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3461+17A>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3462-46T>C Single submitter
  • c.3462-9C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+10G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+11C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+13C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+15G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+15G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+19G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+20C>A Single submitter
  • c.378+264T>C Single submitter
  • c.378+423G>A Single submitter
  • c.378+438C>T Single submitter
  • c.378+475G>T Single submitter
  • c.378+621del Single submitter
  • c.378+732C>T Single submitter
  • c.378+76G>T Single submitter
  • c.378+7C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+803G>T Single submitter
  • c.378+808C>T Single submitter
  • c.378+809dup Single submitter
  • c.378+848G>A Single submitter
  • c.378+897C>G Single submitter
  • c.378+8G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+946C>G Single submitter
  • c.379-12C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.379-16C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.379-17G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.540+12C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.540+16C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.541-12C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.541-13T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.541-14_541-12del Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.541-15C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.602+12634G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.602+20_602+21del Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.603-14T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.603-15C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.603-16T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome

Uncertain significance 712

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

  • c.2015+5G>C Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+398C>A Multiple submitters
  • c.378+5C>A Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala1049Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala1081Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala138Pro Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala154Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala31Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala38Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala496Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala532Val Multiple submitters ⚠
  • p.Ala548Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1061Trp Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1097Cys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1097His Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1186Gln Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1186Trp Multiple submitters Inborn genetic diseases
  • p.Arg1218Gln Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1222Gly Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg1225Gln Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1225Trp Multiple submitters KCNMA1-related disorder
  • p.Arg394His Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg643= Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg689Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg697Trp Multiple submitters cerebellar atrophy, developmental delay, and seizures ⚠
  • p.Arg776Gln Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Arg776Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg858Trp Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg888Gln Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg989His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1094Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn1181Asp Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn1214Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn132Lys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn133Lys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn247Lys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn772Lys Multiple submitters KCNMA1-related disorder ⚠
  • p.Asn780Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asn805Ser Multiple submitters KCNMA1-related disorder ⚠
  • p.Asp1107Asn Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Asp1112Asn Multiple submitters ⚠
  • p.Asp686Val Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Asp789Glu Multiple submitters Inborn genetic diseases
  • p.Asp849Glu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Cys1118Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gln129Glu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gln930Pro Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Glu155Lys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Glu620Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu656Ala Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Glu759Ala Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly10_Gly20del Multiple submitters Inborn genetic diseases
  • p.Gly10Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly122Ala Multiple submitters cerebellar atrophy, developmental delay, and seizures ⚠
  • p.Gly123Asp Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly15_Gly16insSerSerGlyGlyGly Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly19_Gly20del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly20_Ser21insGlyGlyGly Multiple submitters Liang-Wang syndrome
  • p.Gly20Asp Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly230Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly6_Ser11dup Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly612Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly6Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Gly715Arg Multiple submitters ⚠
  • p.Gly773Glu Multiple submitters ⚠
  • p.Gly795Arg Multiple submitters Inborn genetic diseases
  • p.Gly8_Gly10del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Gly9_Gly10dup Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.His1144Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His1191Tyr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ile1056Val Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile1209Val Multiple submitters ⚠
  • p.Ile29Val Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ile481Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile827Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ile933Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Leu142Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Leu187Val Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Leu271Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Leu764Pro Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Lys130Arg Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Lys211Arg Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Lys518Asn Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Lys625Arg Multiple submitters Liang-Wang syndrome ⚠
  • p.Lys627Arg Multiple submitters Liang-Wang syndrome ⚠
  • p.Lys653Glu Multiple submitters ⚠
  • p.Lys769Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys887Arg Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Met369Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Met706Leu Multiple submitters ⚠
  • p.Met75Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Met775Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Met802Thr Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Met802Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met95Val Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro1022Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro1089Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1148Arg Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro698Ser Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro761Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Pro78Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1087Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser11_Gly15del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser11_Gly16del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser11_Gly18del Multiple submitters Inborn genetic diseases
  • p.Ser11_Gly19dup Multiple submitters Inborn genetic diseases
  • p.Ser11_Ser12delinsGly Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 16
  • p.Ser1190Cys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser1192Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser1193Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser1196Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser11Gly Multiple submitters KCNMA1-related disorder ⚠
  • p.Ser1200Gly Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser1204Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser1224Pro Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser12dup Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser21Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser35Asn Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser400Thr Multiple submitters Liang-Wang syndrome ⚠
  • p.Ser41Phe Multiple submitters cerebellar atrophy, developmental delay, and seizures ⚠
  • p.Ser53_Ser60del Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ser58Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser59Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser59Pro Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser608Gly Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser637Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser722Leu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 16 ⚠
  • p.Ser804Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser93Phe Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ser992Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1029Met Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr1088Asn Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr1147Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr1169Met Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr1212Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1212Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr141Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr254Met Multiple submitters Liang-Wang syndrome ⚠
  • p.Thr617Ala Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr617Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr905Met Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Thr936Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr994Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Trp268Arg Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Tyr1162Cys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Tyr592Cys Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val1040Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val1167Met Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Val117Met Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val152Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val436Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val441Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val611Leu Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Val61Ala Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val837Ile Multiple submitters generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Val924Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1132-17G>A Single submitter
  • c.1132-8C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1223+4del Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1224-326G>C Single submitter cerebellar atrophy, developmental delay, and seizures
  • c.1334+3A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1335-3T>C Single submitter Inborn genetic diseases
  • c.1335-7T>A Single submitter
  • c.1440+2del Single submitter
  • c.1441-10G>A Single submitter
  • c.1441-12T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1441-7G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1593+5G>T Single submitter
  • c.1749+5C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1859+5_1859+8dup Single submitter
  • c.1860-11T>A Single submitter
  • c.1860-3C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1860-9T>G Single submitter
  • c.1928+2371G>A Single submitter Liang-Wang syndrome
  • c.1929-3C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.1929-6G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2092+3789A>G Single submitter
  • c.2092+5G>A Single submitter Inborn genetic diseases
  • c.2093-8G>A Single submitter
  • c.2267-4420G>T Single submitter
  • c.2267-4423C>T Single submitter
  • c.2267-4483T>C Single submitter
  • c.2267-4488C>T Single submitter
  • c.2484+1682T>C Single submitter
  • c.2484+1746C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 16
  • c.2484+1754del Single submitter
  • c.2484+1765G>A Single submitter
  • c.2710-3A>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.2710-8_2710-7inv Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+16_3016+17inv Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+6G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3016+835A>T Single submitter
  • c.3016+879G>T Single submitter KCNMA1-related disorder
  • c.3147+3G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3147+8A>G Single submitter
  • c.3148-65_3177dup Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.3462-8del Single submitter
  • c.378+12_378+13delinsAA Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+284C>T Single submitter
  • c.378+286G>A Single submitter KCNMA1-related disorder
  • c.378+304C>T Single submitter Liang-Wang syndrome
  • c.378+334C>T Single submitter
  • c.378+346G>A Single submitter
  • c.378+375C>A Single submitter Liang-Wang syndrome
  • c.378+399G>A Single submitter
  • c.378+422C>T Single submitter
  • c.378+470A>G Single submitter
  • c.378+4A>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+503T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+512G>A Single submitter
  • c.378+5538T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 16
  • c.378+5C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+766C>A Single submitter KCNMA1-related disorder
  • c.378+792_378+793dup Single submitter
  • c.378+799_378+827dup Single submitter
  • c.378+801G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.378+832_378+848dup Single submitter
  • c.378+834G>A Single submitter
  • c.378+846G>C Single submitter
  • c.378+868G>A Single submitter
  • c.378+878del Single submitter
  • c.378+889T>C Single submitter
  • c.379-114292C>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.379-51304del Single submitter cerebellar atrophy, developmental delay, and seizures
  • c.541-5T>C Single submitter
  • c.884+6A>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.960+5_960+8dup Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.-104G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.-116GGC[7] Single submitter
  • c.-131C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.-175C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.-3G>A Single submitter
  • c.*1006G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1025G>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1131C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*115C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1165C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1202C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1284T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*129T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*14C>T Single submitter
  • c.*1507G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1529C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1633C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1739G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1887G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1935A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*1937T>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2117G>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*21G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2226A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*223A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2278G>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2325T>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2326C>A Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*2373dup Single submitter
  • c.*497A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*50C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*531C>T Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*539T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*570T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*69A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*834T>C Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • c.*862A>G Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala1049fs Single submitter KCNMA1-related disorder
  • p.Ala1049Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala1101Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala1182Pro Single submitter ⚠
  • p.Ala1213Thr Single submitter ⚠
  • p.Ala151Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala153Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala154Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala220Gly Single submitter Epileptic encephalopathy
  • p.Ala220Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala2Pro Single submitter KCNMA1-related disorder ⚠
  • p.Ala31Gly Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala31Pro Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala31Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala360Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala360Val Single submitter ⚠
  • p.Ala378Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala38Pro Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala38Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala403Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
  • p.Ala454Asp Single submitter spastic ataxia ⚠
  • p.Ala486Thr Single submitter ⚠
  • p.Ala496Ser Single submitter ⚠
  • p.Ala500Thr Single submitter ⚠
  • p.Ala500Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala532Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala632Ser Single submitter
  • p.Ala664Thr Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala679Val Single submitter
  • p.Ala68Glu Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala928Val Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Ala946Val Single submitter ⚠
  • p.Ala964Thr Single submitter ⚠
  • p.Arg1061Gln Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠
  • p.Arg1095Ser Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome ⚠