KCNC1 — 529 ClinVar variants
All ClinVar germline KCNC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →
1 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 20 Conflicting · 10 Benign · 12 Benign/Likely benign · 201 Likely benign · 269 Uncertain significance
Full KCNC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 200
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KCNC1 p.Arg164Trp
Likely pathogenic
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp144Asn
Likely pathogenic
Single submitter
KCNC1-related disorder
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCNC1 c.1504+12C>G
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 c.1504+13T>G
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg214His
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg237Trp
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg317His
Conflicting
Single submitter
KCNC1-related disorder
-
KCNC1 p.Asn269Ser
Conflicting
Single submitter
Inborn genetic diseases
-
KCNC1 p.Asn470Ser
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp141Tyr
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp147Glu
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gln484Glu
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly402Ser
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro165Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KCNC1 p.Val356Met
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Val432Met
Conflicting
Single submitter
KCNC1-related disorder
-
KCNC1 p.Val476Ile
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
KCNC1 p.Arg339Ter
Conflicting
Single submitter
progressive myoclonic epilepsy type 7
Predictors lean, ClinVar uncertain 145
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KCNC1 p.Ala360Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg171His
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg228Pro
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg237Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNC1 p.Arg462Trp Uncertain significance Multiple submitters
-
KCNC1 p.Arg59His
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asn374Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Asp41Asn
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gln232His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Glu213Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Glu225Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Glu259Lys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.His480Asn
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys75Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Pro183Arg
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser185Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser44Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Thr222Met
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Thr231Met
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Tyr188Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Val251Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNC1 p.Val306Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Val434Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala131Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala131Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala134Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala195Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Ala243Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala303Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Ala366Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala421Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala423Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala429Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala501Pro
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Ala501Val Uncertain significance Single submitter
- KCNC1 p.Arg164Pro Uncertain significance Single submitter
-
KCNC1 p.Arg214Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg228His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg234His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg237Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg23His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg263His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg326Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg33Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Arg462Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg72Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asn216Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asn269Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Asn438Asp Uncertain significance Single submitter
-
KCNC1 p.Asn477Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Asn69Lys Uncertain significance Single submitter
- KCNC1 p.Asp100Asn Uncertain significance Single submitter
-
KCNC1 p.Asp128Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp132Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp137Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp141Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp147Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp162Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Asp405Asn Uncertain significance Single submitter
-
KCNC1 p.Asp502Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Asp53Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Cys420Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Gln111Arg Uncertain significance Single submitter
- KCNC1 p.Glu116Ala Uncertain significance Single submitter
-
KCNC1 p.Glu223Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Glu259Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Glu6Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Gly123Ser Uncertain significance Single submitter
-
KCNC1 p.Gly138Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly143Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly145Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Gly15Ser Uncertain significance Single submitter
-
KCNC1 p.Gly163Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly166Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly166Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly167Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly297Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Gly390Cys Uncertain significance Single submitter
- KCNC1 p.Gly390Val Uncertain significance Single submitter
-
KCNC1 p.Gly404Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly424Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly4Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly95Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.His327Arg Uncertain significance Single submitter
-
KCNC1 p.His45Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.His45Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.His45Tyr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.His480Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.His60Tyr Uncertain significance Single submitter
-
KCNC1 p.Ile176Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile204Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile248Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile248Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile265Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Ile281Phe Uncertain significance Single submitter
-
KCNC1 p.Ile387Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile498Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Leu179Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Leu179Pro Uncertain significance Single submitter
-
KCNC1 p.Leu86Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys455Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys457Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met151Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met430Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met441Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met441Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Phe55Leu Uncertain significance Single submitter
- KCNC1 p.Phe93Ser Uncertain significance Single submitter
- KCNC1 p.Pro103Leu Uncertain significance Single submitter
-
KCNC1 p.Pro408Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Pro431Arg Uncertain significance Single submitter
-
KCNC1 p.Pro433Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Pro461Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro50Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser142Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Ser160Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser24Trp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser277Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser444Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser44Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ser474Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Ser478Ala Uncertain significance Single submitter
-
KCNC1 p.Thr241Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Thr241Met Uncertain significance Single submitter
-
KCNC1 p.Thr25Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Thr25Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Thr325Ile Uncertain significance Single submitter
-
KCNC1 p.Thr337Pro
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Thr400Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Thr410Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Thr427Ile Uncertain significance Single submitter
- KCNC1 p.Trp392Cys Uncertain significance Single submitter
-
KCNC1 p.Trp94Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Tyr365Cys Uncertain significance Single submitter
- KCNC1 p.Val202Phe Uncertain significance Single submitter
-
KCNC1 p.Val227Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Val306Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Val312Phe Uncertain significance Single submitter
- KCNC1 p.Val316Met Uncertain significance Single submitter
- KCNC1 p.Val395Ala Uncertain significance Single submitter
- KCNC1 p.Val425Glu Uncertain significance Single submitter
- KCNC1 p.Val475Asp Uncertain significance Single submitter
- KCNC1 p.Val475Ile Uncertain significance Single submitter
-
KCNC1 p.Val476Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Pro479Ser
Uncertain significance
No assertion criteria
KCNC1-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
-
KCNC1 p.Ala418Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg171Cys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly31Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile248Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Phe198Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Phe46Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala353Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ala423Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg154Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg175Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Arg234Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly167Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Gly230Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Gly31Arg Uncertain significance Single submitter
-
KCNC1 p.Gly467Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Ile176Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
- KCNC1 p.Ile280Val Uncertain significance Single submitter
- KCNC1 p.Ile349Val Uncertain significance Single submitter
-
KCNC1 p.Ile363Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Leu287Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys385Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys455Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNC1 p.Lys458Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Lys473Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met107Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Met262Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Phe283Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Phe328Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro217Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro376Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro464Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Pro489Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Tyr236Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Tyr236His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Val219Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 7
-
KCNC1 p.Val313Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNC1 p.Val313Ile Uncertain significance Single submitter
All KCNC1 variants
Pathogenic 1
- p.Thr400Asn Single submitter progressive myoclonic epilepsy type 7
Pathogenic/Likely pathogenic 4
- p.Ala421Val Multiple submitters developmental and epileptic encephalopathy
- p.Arg320His Multiple submitters KCNC1-related disorder
- p.Thr399Met Multiple submitters Seizure
- p.Val425Met Multiple submitters progressive myoclonic epilepsy type 7
Likely pathogenic 12
- p.Ala513Val Single submitter progressive myoclonic epilepsy type 7
- p.Arg164Trp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg311His Single submitter
- p.Asp144Asn Single submitter KCNC1-related disorder ⚠
- p.Cys208Tyr Single submitter
- p.Glu8Ter Single submitter
- p.Lys457fs Single submitter progressive myoclonic epilepsy type 7
- p.Ser341Arg Single submitter progressive myoclonic epilepsy type 7
- p.Thr231Ala Single submitter progressive myoclonic epilepsy type 7
- p.Trp36fs Single submitter progressive myoclonic epilepsy type 7
- p.Val396_Leu401del Single submitter progressive myoclonic epilepsy type 7
- p.Val432Leu Single submitter progressive myoclonic epilepsy type 7
Conflicting classifications of pathogenicity 20
- c.1504+12C>G Single submitter progressive myoclonic epilepsy type 7 ⚠
- c.1504+13T>G Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg214His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg237Trp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg317His Single submitter KCNC1-related disorder ⚠
- p.Arg339Ter Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg536Cys Single submitter progressive myoclonic epilepsy type 7
- p.Arg540His Single submitter progressive myoclonic epilepsy type 7
- p.Asn269Ser Single submitter Inborn genetic diseases ⚠
- p.Asn470Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp141Tyr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp147Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp529Asn Single submitter Inborn genetic diseases
- p.Gln484Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly402Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro165Leu Single submitter Inborn genetic diseases ⚠
- p.Pro453= Single submitter
- p.Val356Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Val432Met Single submitter KCNC1-related disorder ⚠
- p.Val476Ile Single submitter Inborn genetic diseases ⚠
Benign 10
- c.1505-80C>A Multiple submitters
- c.1693+29A>G Multiple submitters
- c.1694-44C>T Multiple submitters
- c.-133C>A Multiple submitters
- p.Ser24= Multiple submitters progressive myoclonic epilepsy type 7
- c.1505-9dup Single submitter progressive myoclonic epilepsy type 7
- c.1693+46G>A Single submitter
- c.571-222T>C Single submitter
- p.Gly250= Single submitter progressive myoclonic epilepsy type 7
- p.Pro431= Single submitter progressive myoclonic epilepsy type 7
Benign/Likely benign 12
- c.1504+29C>T Multiple submitters
- c.570+19A>T Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala239= Multiple submitters Inborn genetic diseases
- p.Ala429= Multiple submitters Inborn genetic diseases
- p.Arg228Leu Multiple submitters progressive myoclonic epilepsy type 7
- p.Arg339= Multiple submitters progressive myoclonic epilepsy type 7
- p.Gln484Arg Multiple submitters Inborn genetic diseases
- p.Glu553Asp Multiple submitters Inborn genetic diseases
- p.Lys304= Multiple submitters Inborn genetic diseases
- p.Pro528= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ser412= Multiple submitters progressive myoclonic epilepsy type 7
- p.Tyr543= Multiple submitters progressive myoclonic epilepsy type 7
Likely benign 201
- c.1505-18C>G Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala243= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala38= Multiple submitters Inborn genetic diseases
- p.Ala394= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala421= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala423= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala513= Multiple submitters progressive myoclonic epilepsy type 7
- p.Arg540= Multiple submitters progressive myoclonic epilepsy type 7
- p.Asn226Ile Multiple submitters Inborn genetic diseases
- p.Asn506= Multiple submitters progressive myoclonic epilepsy type 7
- p.Asp49= Multiple submitters progressive myoclonic epilepsy type 7
- p.Gln20= Multiple submitters progressive myoclonic epilepsy type 7
- p.Glu508= Multiple submitters progressive myoclonic epilepsy type 7
- p.Gly140= Multiple submitters progressive myoclonic epilepsy type 7
- p.Gly335= Multiple submitters progressive myoclonic epilepsy type 7
- p.Gly355= Multiple submitters Inborn genetic diseases
- p.Gly424= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ile274= Multiple submitters Inborn genetic diseases
- p.Ile389= Multiple submitters progressive myoclonic epilepsy type 7
- p.Ile435= Multiple submitters progressive myoclonic epilepsy type 7
- p.Leu26= Multiple submitters progressive myoclonic epilepsy type 7
- p.Leu324= Multiple submitters progressive myoclonic epilepsy type 7
- p.Leu415= Multiple submitters Inborn genetic diseases
- p.Leu426= Multiple submitters progressive myoclonic epilepsy type 7
- p.Leu490= Multiple submitters progressive myoclonic epilepsy type 7
- p.Leu68= Multiple submitters progressive myoclonic epilepsy type 7
- p.Phe258= Multiple submitters progressive myoclonic epilepsy type 7
- p.Phe359= Multiple submitters progressive myoclonic epilepsy type 7
- p.Phe439= Multiple submitters progressive myoclonic epilepsy type 7
- p.Pro461= Multiple submitters progressive myoclonic epilepsy type 7
- p.Pro489= Multiple submitters Inborn genetic diseases
- p.Ser277= Multiple submitters progressive myoclonic epilepsy type 7
- p.Thr108= Multiple submitters Inborn genetic diseases
- p.Thr231= Multiple submitters progressive myoclonic epilepsy type 7
- p.Thr535= Multiple submitters progressive myoclonic epilepsy type 7
- p.Tyr365= Multiple submitters progressive myoclonic epilepsy type 7
- p.Tyr407= Multiple submitters progressive myoclonic epilepsy type 7
- c.1504+2376C>T Single submitter
- c.1504+2422T>C Single submitter
- c.1504+33C>T Single submitter
- c.1504+733G>C Single submitter
- c.1505-11T>C Single submitter progressive myoclonic epilepsy type 7
- c.1505-14T>C Single submitter progressive myoclonic epilepsy type 7
- c.1505-17T>C Single submitter progressive myoclonic epilepsy type 7
- c.1505-20T>C Single submitter progressive myoclonic epilepsy type 7
- c.1505-2798G>A Single submitter
- c.1505-8G>A Single submitter progressive myoclonic epilepsy type 7
- c.1693+10G>A Single submitter progressive myoclonic epilepsy type 7
- c.1693+36G>A Single submitter
- c.1693+9A>C Single submitter
- c.1694-19T>C Single submitter progressive myoclonic epilepsy type 7
- c.1694-20A>C Single submitter progressive myoclonic epilepsy type 7
- c.1694-296C>T Single submitter
- c.570+11A>G Single submitter progressive myoclonic epilepsy type 7
- c.570+17C>A Single submitter progressive myoclonic epilepsy type 7
- c.570+93del Single submitter
- c.571-12T>C Single submitter progressive myoclonic epilepsy type 7
- c.571-15T>A Single submitter progressive myoclonic epilepsy type 7
- c.571-172G>A Single submitter
- c.571-17T>A Single submitter progressive myoclonic epilepsy type 7
- c.571-9T>A Single submitter progressive myoclonic epilepsy type 7
- c.*7G>A Single submitter
- p.Ala115= Single submitter progressive myoclonic epilepsy type 7
- p.Ala131= Single submitter progressive myoclonic epilepsy type 7
- p.Ala134= Single submitter progressive myoclonic epilepsy type 7
- p.Ala136= Single submitter progressive myoclonic epilepsy type 7
- p.Ala156= Single submitter progressive myoclonic epilepsy type 7
- p.Ala35= Single submitter progressive myoclonic epilepsy type 7
- p.Ala353= Single submitter progressive myoclonic epilepsy type 7
- p.Ala366= Single submitter progressive myoclonic epilepsy type 7
- p.Ala510= Single submitter progressive myoclonic epilepsy type 7
- p.Ala512= Single submitter progressive myoclonic epilepsy type 7
- p.Ala515= Single submitter progressive myoclonic epilepsy type 7
- p.Ala525= Single submitter progressive myoclonic epilepsy type 7
- p.Ala80= Single submitter Inborn genetic diseases
- p.Arg164= Single submitter progressive myoclonic epilepsy type 7
- p.Arg234= Single submitter progressive myoclonic epilepsy type 7
- p.Arg311= Single submitter progressive myoclonic epilepsy type 7
- p.Arg314= Single submitter progressive myoclonic epilepsy type 7
- p.Arg320= Single submitter progressive myoclonic epilepsy type 7
- p.Arg59= Single submitter progressive myoclonic epilepsy type 7
- p.Asn226= Single submitter progressive myoclonic epilepsy type 7
- p.Asn343= Single submitter progressive myoclonic epilepsy type 7
- p.Asn516= Single submitter progressive myoclonic epilepsy type 7
- p.Asp135= Single submitter progressive myoclonic epilepsy type 7
- p.Asp144= Single submitter progressive myoclonic epilepsy type 7
- p.Asp282= Single submitter
- p.Asp305= Single submitter progressive myoclonic epilepsy type 7
- p.Asp375= Single submitter progressive myoclonic epilepsy type 7
- p.Asp529= Single submitter progressive myoclonic epilepsy type 7
- p.Cys267= Single submitter progressive myoclonic epilepsy type 7
- p.Cys420= Single submitter progressive myoclonic epilepsy type 7
- p.Cys83= Single submitter progressive myoclonic epilepsy type 7
- p.Gln3= Single submitter
- p.Gln372= Single submitter progressive myoclonic epilepsy type 7
- p.Gln450= Single submitter progressive myoclonic epilepsy type 7
- p.Glu238= Single submitter progressive myoclonic epilepsy type 7
- p.Gly145= Single submitter progressive myoclonic epilepsy type 7
- p.Gly163= Single submitter progressive myoclonic epilepsy type 7
- p.Gly294= Single submitter progressive myoclonic epilepsy type 7
- p.Gly297= Single submitter progressive myoclonic epilepsy type 7
- p.Gly413= Single submitter progressive myoclonic epilepsy type 7
- p.Gly538= Single submitter progressive myoclonic epilepsy type 7
- p.Gly544Arg Single submitter progressive myoclonic epilepsy type 7
- p.Gly95= Single submitter progressive myoclonic epilepsy type 7
- p.His212= Single submitter progressive myoclonic epilepsy type 7
- p.His336= Single submitter progressive myoclonic epilepsy type 7
- p.His383= Single submitter progressive myoclonic epilepsy type 7
- p.His480= Single submitter progressive myoclonic epilepsy type 7
- p.His66= Single submitter progressive myoclonic epilepsy type 7
- p.His77= Single submitter progressive myoclonic epilepsy type 7
- p.Ile10= Single submitter progressive myoclonic epilepsy type 7
- p.Ile12= Single submitter progressive myoclonic epilepsy type 7
- p.Ile204= Single submitter progressive myoclonic epilepsy type 7
- p.Ile218= Single submitter progressive myoclonic epilepsy type 7
- p.Ile224= Single submitter progressive myoclonic epilepsy type 7
- p.Ile248= Single submitter progressive myoclonic epilepsy type 7
- p.Ile428= Single submitter progressive myoclonic epilepsy type 7
- p.Ile96= Single submitter progressive myoclonic epilepsy type 7
- p.Leu119= Single submitter progressive myoclonic epilepsy type 7
- p.Leu155= Single submitter progressive myoclonic epilepsy type 7
- p.Leu201= Single submitter progressive myoclonic epilepsy type 7
- p.Leu295= Single submitter progressive myoclonic epilepsy type 7
- p.Leu307= Single submitter progressive myoclonic epilepsy type 7
- p.Leu334= Single submitter progressive myoclonic epilepsy type 7
- p.Leu34= Single submitter progressive myoclonic epilepsy type 7
- p.Leu348= Single submitter
- p.Leu354= Single submitter progressive myoclonic epilepsy type 7
- p.Leu422= Single submitter progressive myoclonic epilepsy type 7
- p.Leu514= Single submitter progressive myoclonic epilepsy type 7
- p.Leu76= Single submitter progressive myoclonic epilepsy type 7
- p.Leu86= Single submitter progressive myoclonic epilepsy type 7
- p.Lys153= Single submitter progressive myoclonic epilepsy type 7
- p.Lys451= Single submitter progressive myoclonic epilepsy type 7
- p.Lys457Arg Single submitter progressive myoclonic epilepsy type 7
- p.Lys458= Single submitter progressive myoclonic epilepsy type 7
- p.Lys568= Single submitter progressive myoclonic epilepsy type 7
- p.Phe180= Single submitter progressive myoclonic epilepsy type 7
- p.Phe194= Single submitter progressive myoclonic epilepsy type 7
- p.Phe198= Single submitter progressive myoclonic epilepsy type 7
- p.Phe273= Single submitter progressive myoclonic epilepsy type 7
- p.Phe328= Single submitter progressive myoclonic epilepsy type 7
- p.Phe391= Single submitter progressive myoclonic epilepsy type 7
- p.Pro139= Single submitter progressive myoclonic epilepsy type 7
- p.Pro161= Single submitter progressive myoclonic epilepsy type 7
- p.Pro183= Single submitter progressive myoclonic epilepsy type 7
- p.Pro30= Single submitter progressive myoclonic epilepsy type 7
- p.Pro373= Single submitter progressive myoclonic epilepsy type 7
- p.Pro40= Single submitter progressive myoclonic epilepsy type 7
- p.Pro408= Single submitter progressive myoclonic epilepsy type 7
- p.Pro433= Single submitter progressive myoclonic epilepsy type 7
- p.Pro464= Single submitter progressive myoclonic epilepsy type 7
- p.Pro469= Single submitter progressive myoclonic epilepsy type 7
- p.Pro50= Single submitter progressive myoclonic epilepsy type 7
- p.Pro578= Single submitter progressive myoclonic epilepsy type 7
- p.Pro61= Single submitter progressive myoclonic epilepsy type 7
- p.Pro79= Single submitter progressive myoclonic epilepsy type 7
- p.Pro85= Single submitter progressive myoclonic epilepsy type 7
- p.Ser142= Single submitter
- p.Ser185= Single submitter progressive myoclonic epilepsy type 7
- p.Ser186= Single submitter progressive myoclonic epilepsy type 7
- p.Ser296= Single submitter progressive myoclonic epilepsy type 7
- p.Ser300= Single submitter progressive myoclonic epilepsy type 7
- p.Ser377= Single submitter progressive myoclonic epilepsy type 7
- p.Ser379= Single submitter progressive myoclonic epilepsy type 7
- p.Ser444= Single submitter progressive myoclonic epilepsy type 7
- p.Ser537= Single submitter progressive myoclonic epilepsy type 7
- p.Thr17= Single submitter progressive myoclonic epilepsy type 7
- p.Thr222= Single submitter progressive myoclonic epilepsy type 7
- p.Thr241= Single submitter progressive myoclonic epilepsy type 7
- p.Thr25= Single submitter progressive myoclonic epilepsy type 7
- p.Thr28= Single submitter progressive myoclonic epilepsy type 7
- p.Thr32= Single submitter progressive myoclonic epilepsy type 7
- p.Thr337= Single submitter progressive myoclonic epilepsy type 7
- p.Thr361= Single submitter progressive myoclonic epilepsy type 7
- p.Thr382= Single submitter progressive myoclonic epilepsy type 7
- p.Thr399= Single submitter progressive myoclonic epilepsy type 7
- p.Thr410= Single submitter progressive myoclonic epilepsy type 7
- p.Thr551= Single submitter progressive myoclonic epilepsy type 7
- p.Thr585= Single submitter progressive myoclonic epilepsy type 7
- p.Thr73= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr109= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr22= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr247= Single submitter Inborn genetic diseases
- p.Tyr290= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr442= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr471= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr48= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr554= Single submitter progressive myoclonic epilepsy type 7
- p.Tyr87= Single submitter progressive myoclonic epilepsy type 7
- p.Val227Ala Single submitter
- p.Val254= Single submitter progressive myoclonic epilepsy type 7
- p.Val264= Single submitter progressive myoclonic epilepsy type 7
- p.Val293= Single submitter progressive myoclonic epilepsy type 7
- p.Val306= Single submitter
- p.Val312= Single submitter progressive myoclonic epilepsy type 7
- p.Val316= Single submitter progressive myoclonic epilepsy type 7
- p.Val475= Single submitter progressive myoclonic epilepsy type 7
- p.Val572= Single submitter progressive myoclonic epilepsy type 7
- p.Val82= Single submitter progressive myoclonic epilepsy type 7
- p.Gln111= No assertion criteria KCNC1-related disorder
Uncertain significance 269
- p.Ala360Thr Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Ala418Ser Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Ala510Val Multiple submitters progressive myoclonic epilepsy type 7
- p.Ala555Val Multiple submitters progressive myoclonic epilepsy type 7
- p.Arg171Cys Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Arg171His Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Arg214Cys Multiple submitters progressive myoclonic epilepsy type 7
- p.Arg228Pro Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Arg237Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg462Trp Multiple submitters ⚠
- p.Arg542Ile Multiple submitters Inborn genetic diseases
- p.Arg59His Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Asn374Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn516Asp Multiple submitters progressive myoclonic epilepsy type 7
- p.Asp41Asn Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Gln232His Multiple submitters Inborn genetic diseases ⚠
- p.Glu148Lys Multiple submitters
- p.Glu213Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu225Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu259Lys Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Glu508Asp Multiple submitters progressive myoclonic epilepsy type 7
- p.Glu517Lys Multiple submitters Inborn genetic diseases
- p.Glu541Lys Multiple submitters Inborn genetic diseases
- p.Glu553Lys Multiple submitters progressive myoclonic epilepsy type 7
- p.Gly31Ser Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Gly561Arg Multiple submitters progressive myoclonic epilepsy type 7
- p.His480Asn Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Ile248Thr Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Lys75Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe198Leu Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Phe46Leu Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Phe57del Multiple submitters
- p.Pro183Arg Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Pro528Thr Multiple submitters progressive myoclonic epilepsy type 7
- p.Pro558Arg Multiple submitters progressive myoclonic epilepsy type 7
- p.Ser185Leu Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Ser44Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser570Ile Multiple submitters Inborn genetic diseases
- p.Thr222Met Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Thr231Met Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Tyr188Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr554Asp Multiple submitters progressive myoclonic epilepsy type 7
- p.Val251Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val306Leu Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- p.Val434Leu Multiple submitters progressive myoclonic epilepsy type 7 ⚠
- c.1693+4T>C Single submitter progressive myoclonic epilepsy type 7
- c.1694-2A>C Single submitter
- c.*6C>T Single submitter
- p.Ala131Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala131Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala134_Gly138del Single submitter progressive myoclonic epilepsy type 7
- p.Ala134Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala195Asp Single submitter Inborn genetic diseases ⚠
- p.Ala243Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala303Thr Single submitter Inborn genetic diseases ⚠
- p.Ala353Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala366Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala421Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala423Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala423Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala429Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala501Pro Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ala501Val Single submitter ⚠
- p.Ala512Pro Single submitter progressive myoclonic epilepsy type 7
- p.Ala513Thr Single submitter progressive myoclonic epilepsy type 7
- p.Ala515Glu Single submitter progressive myoclonic epilepsy type 7
- p.Ala515Val Single submitter progressive myoclonic epilepsy type 7
- p.Ala525Thr Single submitter progressive myoclonic epilepsy type 7
- p.Ala525Val Single submitter progressive myoclonic epilepsy type 7
- p.Ala555Thr Single submitter progressive myoclonic epilepsy type 7
- p.Ala581Ser Single submitter Inborn genetic diseases
- p.Arg154Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg164Pro Single submitter ⚠
- p.Arg175Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg214Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg228His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg234Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg234His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg237Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg23His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg263His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg320fs Single submitter progressive myoclonic epilepsy type 7
- p.Arg326Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg33Leu Single submitter Inborn genetic diseases ⚠
- p.Arg462Gln Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Arg536His Single submitter progressive myoclonic epilepsy type 7
- p.Arg536Pro Single submitter progressive myoclonic epilepsy type 7
- p.Arg542Lys Single submitter progressive myoclonic epilepsy type 7
- p.Arg583Lys Single submitter progressive myoclonic epilepsy type 7
- p.Arg72Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asn216Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asn269Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asn438Asp Single submitter ⚠
- p.Asn477Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asn69Lys Single submitter ⚠
- p.Asp100Asn Single submitter ⚠
- p.Asp128Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp132Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp137Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp141Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp147Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp162Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp405Asn Single submitter ⚠
- p.Asp5= Single submitter
- p.Asp502Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Asp502Gly Single submitter progressive myoclonic epilepsy type 7
- p.Asp523Asn Single submitter progressive myoclonic epilepsy type 7
- p.Asp529Val Single submitter progressive myoclonic epilepsy type 7
- p.Asp53Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Cys420Gly Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gln111Arg Single submitter ⚠
- p.Glu116Ala Single submitter ⚠
- p.Glu223Lys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Glu259Gln Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Glu508Ala Single submitter Inborn genetic diseases
- p.Glu541Gln Single submitter progressive myoclonic epilepsy type 7
- p.Glu553Val Single submitter progressive myoclonic epilepsy type 7
- p.Glu580Gly Single submitter progressive myoclonic epilepsy type 7
- p.Glu6Gln Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly123= Single submitter
- p.Gly123Ser Single submitter ⚠
- p.Gly138Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly143Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly145Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly163Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly166Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly166Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly167Asp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly167Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly230Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly297Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly390Cys Single submitter ⚠
- p.Gly390Val Single submitter ⚠
- p.Gly404Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly424Ala Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly467Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly4Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Gly531Ser Single submitter progressive myoclonic epilepsy type 7
- p.Gly552Arg Single submitter progressive myoclonic epilepsy type 7
- p.Gly559fs Single submitter
- p.Gly95Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.His327Arg Single submitter ⚠
- p.His45Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.His45Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.His45Tyr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.His480Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.His521Asp Single submitter
- p.His60Tyr Single submitter ⚠
- p.Ile176Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile176Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile204Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile248Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile248Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile265Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile280Val Single submitter ⚠
- p.Ile281Phe Single submitter ⚠
- p.Ile321_Phe322insLeuArgIle Single submitter intellectual disability
- p.Ile349Val Single submitter ⚠
- p.Ile363Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile387Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile460Val Single submitter progressive myoclonic epilepsy type 7
- p.Ile498Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ile522Val Single submitter progressive myoclonic epilepsy type 7
- p.Ile573Val Single submitter
- p.Leu179Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Leu179Pro Single submitter ⚠
- p.Leu287Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Leu549Phe Single submitter progressive myoclonic epilepsy type 7
- p.Leu86Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys385Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys455Arg Single submitter Inborn genetic diseases ⚠
- p.Lys455Glu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys457Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys458Gln Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys473Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Lys504Arg Single submitter
- p.Lys511Arg Single submitter progressive myoclonic epilepsy type 7
- p.Lys564Asn Single submitter
- p.Lys564fs Single submitter
- p.Lys575Met Single submitter
- p.Met107Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met151Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met262Thr Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met398fs Single submitter
- p.Met430Ile Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met441Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met441Val Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Met577Ile Single submitter progressive myoclonic epilepsy type 7
- p.Met577Leu Single submitter progressive myoclonic epilepsy type 7
- p.Phe168Leu Single submitter
- p.Phe283Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Phe328Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Phe55Leu Single submitter ⚠
- p.Phe93Ser Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro217Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro376Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro408Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro431Arg Single submitter ⚠
- p.Pro433Ser Single submitter Inborn genetic diseases ⚠
- p.Pro461Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro463fs Single submitter progressive myoclonic epilepsy type 7
- p.Pro464Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro489Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro50Ser Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Pro520Ser Single submitter
- p.Pro545Ser Single submitter progressive myoclonic epilepsy type 7
- p.Pro557Leu Single submitter
- p.Pro557Ser Single submitter progressive myoclonic epilepsy type 7
- p.Pro558Leu Single submitter progressive myoclonic epilepsy type 7
- p.Pro571Ser Single submitter progressive myoclonic epilepsy type 7
- p.Pro578Leu Single submitter progressive myoclonic epilepsy type 7
- p.Ser142Leu Single submitter Inborn genetic diseases ⚠
- p.Ser160Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser24Trp Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser277Leu Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser444Phe Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser44Gly Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser474Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Ser474Tyr Single submitter progressive myoclonic epilepsy type 7
- p.Ser478Ala Single submitter ⚠
- p.Ser478Phe Single submitter
- p.Ser537Leu Single submitter progressive myoclonic epilepsy type 7
- p.Ser550Leu Single submitter progressive myoclonic epilepsy type 7
- p.Ser550Pro Single submitter progressive myoclonic epilepsy type 7
- p.Ser550Thr Single submitter progressive myoclonic epilepsy type 7
- p.Thr241Arg Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr241Met Single submitter ⚠
- p.Thr25Asn Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr25Ile Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr325Ile Single submitter ⚠
- p.Thr337Pro Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr400Ile Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr410Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Thr427Ile Single submitter ⚠
- p.Thr483Ile Single submitter
- p.Thr487Arg Single submitter progressive myoclonic epilepsy type 7
- p.Thr551Pro Single submitter progressive myoclonic epilepsy type 7
- p.Trp392Cys Single submitter ⚠
- p.Trp392Ter Single submitter
- p.Trp94Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Tyr109Ter Single submitter progressive myoclonic epilepsy type 7
- p.Tyr184Ter Single submitter
- p.Tyr236Cys Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Tyr236His Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Tyr236Ter Single submitter
- p.Tyr365Cys Single submitter ⚠
- p.Tyr543His Single submitter progressive myoclonic epilepsy type 7
- p.Tyr554Ter Single submitter progressive myoclonic epilepsy type 7
- p.Val202Phe Single submitter ⚠
- p.Val219Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Val227Ile Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Val306Met Single submitter progressive myoclonic epilepsy type 7 ⚠
- p.Val312Ile Single submitter progressive myoclonic epilepsy type 7
- p.Val312Phe Single submitter ⚠
- p.Val313Ala Single submitter Inborn genetic diseases ⚠
- p.Val313Ile Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val395Ala Single submitter ⚠
- p.Val395fs Single submitter
- p.Val425Glu Single submitter ⚠
- p.Val475Asp Single submitter ⚠
- p.Val475Ile Single submitter ⚠
- p.Val476Ala Single submitter Inborn genetic diseases ⚠
- p.Val509Met Single submitter progressive myoclonic epilepsy type 7
- p.Leu532Gln No assertion criteria Seizure
- p.Pro479Ser No assertion criteria KCNC1-related disorder ⚠