CPA6 — 244 ClinVar variants
All ClinVar germline CPA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
3 Likely pathogenic · 17 Conflicting · 6 Benign · 3 Benign/Likely benign · 37 Likely benign · 178 Uncertain significance
Full CPA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CPA6 p.Ala307Val
Conflicting
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Arg311Gln
Conflicting
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Gly267Arg
Conflicting
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Phe21Ile
Conflicting
Single submitter
febrile seizures, familial, 11
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CPA6 p.Ala307Thr
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Ala371Thr
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Ala424Val
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Arg128Gln
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Arg182Gln
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Arg262Ser
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Arg264His
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Arg266Leu
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Arg36Leu
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Arg400His
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Arg7His
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Arg92Gln
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Asn35Lys
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Gln125Arg
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Gly133Arg
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Gly194Asp
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Gly242Val
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
- CPA6 p.His123Asp Uncertain significance Multiple submitters
-
CPA6 p.His156Tyr
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Ile341Val
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Lys106Asn
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Lys277Asn
Uncertain significance
Multiple submitters
CPA6-related disorder
- CPA6 p.Lys315Asn Uncertain significance Multiple submitters
- CPA6 p.Lys58Arg Uncertain significance Multiple submitters
-
CPA6 p.Met430Val
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Phe245Val
Uncertain significance
Multiple submitters
epilepsy
-
CPA6 p.Phe97Ser
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Pro236Leu
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Pro27Leu
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Thr340Ile
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Thr373Ala
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Trp148Arg
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Trp208Cys
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Trp253Gly
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Val364Ile
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
- CPA6 p.Ala350Val Uncertain significance Single submitter
- CPA6 p.Ala96Thr Uncertain significance Single submitter
- CPA6 p.Arg129Lys Uncertain significance Single submitter
-
CPA6 p.Arg184Gln
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Arg264Leu Uncertain significance Single submitter
- CPA6 p.Arg367Ser Uncertain significance Single submitter
-
CPA6 p.Arg7Cys
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Arg7Leu
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Asn127Ser
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Asn239Asp
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Asn308Asp
Uncertain significance
Single submitter
epilepsy
- CPA6 p.Asp192Val Uncertain significance Single submitter
- CPA6 p.Asp241Glu Uncertain significance Single submitter
- CPA6 p.Asp83His Uncertain significance Single submitter
- CPA6 p.Gln69Arg Uncertain significance Single submitter
- CPA6 p.Glu199Gln Uncertain significance Single submitter
-
CPA6 p.Glu302Gly
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Glu398Lys
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Gly119Glu Uncertain significance Single submitter
- CPA6 p.Gly158Asp Uncertain significance Single submitter
- CPA6 p.Gly5Arg Uncertain significance Single submitter
- CPA6 p.Ile391Val Uncertain significance Single submitter
- CPA6 p.Ile46Thr Uncertain significance Single submitter
- CPA6 p.Leu358Ile Uncertain significance Single submitter
-
CPA6 p.Leu432Met
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Lys106Arg Uncertain significance Single submitter
- CPA6 p.Lys255Gln Uncertain significance Single submitter
-
CPA6 p.Lys57Arg
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Lys64Asn Uncertain significance Single submitter
- CPA6 p.Met223Arg Uncertain significance Single submitter
- CPA6 p.Met223Ile Uncertain significance Single submitter
-
CPA6 p.Met235Thr
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Met285Val Uncertain significance Single submitter
- CPA6 p.Met412Thr Uncertain significance Single submitter
-
CPA6 p.Phe21Leu
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Pro437Leu Uncertain significance Single submitter
- CPA6 p.Pro70Thr Uncertain significance Single submitter
-
CPA6 p.Ser120Arg
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Ser120Asn Uncertain significance Single submitter
- CPA6 p.Ser219Arg Uncertain significance Single submitter
- CPA6 p.Ser299Pro Uncertain significance Single submitter
-
CPA6 p.Ser77Thr
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Thr373Lys
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Thr402Asn
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Trp19Cys Uncertain significance Single submitter
- CPA6 p.Trp200Arg Uncertain significance Single submitter
-
CPA6 p.Trp253Arg
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Trp385Arg
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Trp385Cys Uncertain significance Single submitter
- CPA6 p.Tyr231His Uncertain significance Single submitter
-
CPA6 p.Tyr332His
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Tyr366His
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Val347Leu
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Val42Ala
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Cys346Phe
Uncertain significance
No assertion criteria
CPA6-related disorder
Predictors split 57
The independent predictors disagree with each other — read with care.
-
CPA6 p.Ile109Thr
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
- CPA6 p.Ile414Val Uncertain significance Multiple submitters
-
CPA6 p.Ile43Val
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Leu230Val
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Leu433Arg
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Lys106Met
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Lys186Arg
Uncertain significance
Multiple submitters
febrile seizures, familial, 11
-
CPA6 p.Pro301Leu
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 5
-
CPA6 p.Ser173Cys
Benign
Multiple submitters
febrile seizures, familial, 11
- CPA6 p.Tyr75Cys Uncertain significance Multiple submitters
- CPA6 p.Ala188Val Uncertain significance Single submitter
-
CPA6 p.Ala270Val
Conflicting
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Ala354Val Uncertain significance Single submitter
- CPA6 p.Arg318Thr Uncertain significance Single submitter
-
CPA6 p.Arg36Cys
Conflicting
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Arg36His
Conflicting
Single submitter
febrile seizures, familial, 11
- CPA6 p.Asn239Ser Uncertain significance Single submitter
-
CPA6 p.Asn343Asp
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Asn343Ser Uncertain significance Single submitter
- CPA6 p.Asp220Asn Uncertain significance Single submitter
-
CPA6 p.Gln207Glu
Conflicting
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Glu110Val
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Gly180Ser
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Gly363Ala Uncertain significance Single submitter
-
CPA6 p.Gly363Arg
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Gly9Asp
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.His140Arg
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.His313Gln Uncertain significance Single submitter
-
CPA6 p.Ile165Thr
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Leu310Phe Uncertain significance Single submitter
-
CPA6 p.Leu358Phe
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Leu408Ser
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Lys337Glu
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Met226Lys
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Met329Ile Uncertain significance Single submitter
- CPA6 p.Phe238Leu Uncertain significance Single submitter
- CPA6 p.Phe344Leu Uncertain significance Single submitter
-
CPA6 p.Phe97Leu
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Pro416Ser
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Pro47Arg
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Ser132Cys Uncertain significance Single submitter
-
CPA6 p.Ser164Phe
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Ser173Ala
Uncertain significance
Single submitter
febrile seizures, familial, 11
- CPA6 p.Ser372Thr Uncertain significance Single submitter
-
CPA6 p.Thr291Ala
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Thr374Met
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Tyr169His
Conflicting
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Tyr217Cys
Uncertain significance
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Tyr336Cys
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
-
CPA6 p.Tyr33Cys
Conflicting
Single submitter
febrile seizures, familial, 11
-
CPA6 p.Tyr37His
Uncertain significance
Single submitter
familial temporal lobe epilepsy 5
- CPA6 p.Tyr404Cys Uncertain significance Single submitter
-
CPA6 p.Val306Ile
Conflicting
Single submitter
febrile seizures, familial, 11
- CPA6 p.Val364Leu Uncertain significance Single submitter
- CPA6 p.Val364Leu Uncertain significance Single submitter
-
CPA6 p.Gly406Ala
Uncertain significance
No assertion criteria
prostate cancer
-
CPA6 p.Tyr217His
Likely benign
No assertion criteria
intellectual disability
All CPA6 variants
Likely pathogenic 3
- p.Arg182Ter Multiple submitters
- p.Arg128fs Single submitter CPA6-related disorder
- p.Ser77Ter Single submitter febrile seizures, familial, 11
Conflicting classifications of pathogenicity 17
- c.748-1G>A Single submitter febrile seizures, familial, 11
- p.Ala270Val Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Ala307Val Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Arg311Gln Single submitter febrile seizures, familial, 11 ⚠
- p.Arg311Ter Single submitter epilepsy
- p.Arg36Cys Single submitter febrile seizures, familial, 11 ⚠
- p.Arg36His Single submitter febrile seizures, familial, 11 ⚠
- p.Gln207Glu Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Gly267Arg Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Phe21Ile Single submitter febrile seizures, familial, 11 ⚠
- p.Pro301= Single submitter febrile seizures, familial, 11
- p.Pro342= Single submitter febrile seizures, familial, 11
- p.Trp19fs Single submitter febrile seizures, familial, 11
- p.Trp253Ter Single submitter familial temporal lobe epilepsy 5
- p.Tyr169His Single submitter febrile seizures, familial, 11 ⚠
- p.Tyr33Cys Single submitter febrile seizures, familial, 11 ⚠
- p.Val306Ile Single submitter febrile seizures, familial, 11 ⚠
Benign 6
- c.637-3T>C Multiple submitters febrile seizures, familial, 11
- p.Asn249Ser Multiple submitters familial temporal lobe epilepsy 5
- p.Phe45Leu Multiple submitters febrile seizures, familial, 11
- p.Ser173Cys Multiple submitters febrile seizures, familial, 11 ⚠
- p.Asn271= Single submitter febrile seizures, familial, 11
- p.Leu230= Single submitter febrile seizures, familial, 11
Benign/Likely benign 3
- p.Ala325= Multiple submitters febrile seizures, familial, 11
- p.Gln359= Multiple submitters febrile seizures, familial, 11
- p.Leu413Phe Multiple submitters febrile seizures, familial, 11
Likely benign 37
- c.*242T>C Multiple submitters familial temporal lobe epilepsy 5
- c.*328A>G Multiple submitters familial temporal lobe epilepsy 5
- c.1042-4A>C Single submitter febrile seizures, familial, 11
- c.1127-7C>T Single submitter febrile seizures, familial, 11
- c.117-9_117-5del Single submitter febrile seizures, familial, 11
- c.193-4A>G Single submitter febrile seizures, familial, 11
- c.317+8T>C Single submitter febrile seizures, familial, 11
- p.Ala270= Single submitter
- p.Ala319= Single submitter febrile seizures, familial, 11
- p.Ala394= Single submitter febrile seizures, familial, 11
- p.Ala424= Single submitter febrile seizures, familial, 11
- p.Arg7= Single submitter febrile seizures, familial, 11
- p.Arg8= Single submitter febrile seizures, familial, 11
- p.Asn34= Single submitter febrile seizures, familial, 11
- p.Asn89fs Single submitter febrile seizures, familial, 11
- p.Cys193= Single submitter febrile seizures, familial, 11
- p.Cys436= Single submitter febrile seizures, familial, 11
- p.Gln207= Single submitter febrile seizures, familial, 11
- p.Glu199= Single submitter febrile seizures, familial, 11
- p.Glu78= Single submitter febrile seizures, familial, 11
- p.His286= Single submitter febrile seizures, familial, 11
- p.His85= Single submitter febrile seizures, familial, 11
- p.Ile73= Single submitter
- p.Ile86= Single submitter
- p.Leu142= Single submitter febrile seizures, familial, 11
- p.Leu177= Single submitter febrile seizures, familial, 11
- p.Leu399= Single submitter febrile seizures, familial, 11
- p.Leu4= Single submitter febrile seizures, familial, 11
- p.Phe397= Single submitter febrile seizures, familial, 11
- p.Pro287= Single submitter febrile seizures, familial, 11
- p.Thr374= Single submitter febrile seizures, familial, 11
- p.Tyr336= Single submitter
- p.Tyr362= Single submitter febrile seizures, familial, 11
- p.Tyr37= Single submitter febrile seizures, familial, 11
- p.Val240= Single submitter febrile seizures, familial, 11
- p.Val42= Single submitter
- p.Tyr217His No assertion criteria intellectual disability ⚠
Uncertain significance 178
- c.116+11C>A Multiple submitters familial temporal lobe epilepsy 5
- c.534+4A>G Multiple submitters febrile seizures, familial, 11
- p.Ala307Thr Multiple submitters febrile seizures, familial, 11 ⚠
- p.Ala371Thr Multiple submitters febrile seizures, familial, 11 ⚠
- p.Ala424Val Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Arg128Gln Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Arg128Ter Multiple submitters febrile seizures, familial, 11
- p.Arg182Gln Multiple submitters febrile seizures, familial, 11 ⚠
- p.Arg262Ser Multiple submitters febrile seizures, familial, 11 ⚠
- p.Arg264His Multiple submitters febrile seizures, familial, 11 ⚠
- p.Arg266Leu Multiple submitters febrile seizures, familial, 11 ⚠
- p.Arg36Leu Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Arg400His Multiple submitters febrile seizures, familial, 11 ⚠
- p.Arg7His Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Arg92Gln Multiple submitters febrile seizures, familial, 11 ⚠
- p.Asn35Lys Multiple submitters febrile seizures, familial, 11 ⚠
- p.Gln125Arg Multiple submitters febrile seizures, familial, 11 ⚠
- p.Gly133Arg Multiple submitters febrile seizures, familial, 11 ⚠
- p.Gly194Asp Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Gly242Val Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.His123Asp Multiple submitters ⚠
- p.His156Tyr Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Ile109Thr Multiple submitters febrile seizures, familial, 11 ⚠
- p.Ile341Val Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Ile414Val Multiple submitters ⚠
- p.Ile43Val Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Leu230Val Multiple submitters febrile seizures, familial, 11 ⚠
- p.Leu433Arg Multiple submitters febrile seizures, familial, 11 ⚠
- p.Lys106Asn Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Lys106Met Multiple submitters febrile seizures, familial, 11 ⚠
- p.Lys186Arg Multiple submitters febrile seizures, familial, 11 ⚠
- p.Lys277Asn Multiple submitters CPA6-related disorder ⚠
- p.Lys315Asn Multiple submitters ⚠
- p.Lys58Arg Multiple submitters ⚠
- p.Met430Val Multiple submitters febrile seizures, familial, 11 ⚠
- p.Phe245Val Multiple submitters epilepsy ⚠
- p.Phe97Ser Multiple submitters febrile seizures, familial, 11 ⚠
- p.Pro236Leu Multiple submitters febrile seizures, familial, 11 ⚠
- p.Pro27Leu Multiple submitters febrile seizures, familial, 11 ⚠
- p.Pro301Leu Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Thr340Ile Multiple submitters febrile seizures, familial, 11 ⚠
- p.Thr373Ala Multiple submitters febrile seizures, familial, 11 ⚠
- p.Trp148Arg Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Trp208Cys Multiple submitters febrile seizures, familial, 11 ⚠
- p.Trp253Gly Multiple submitters familial temporal lobe epilepsy 5 ⚠
- p.Tyr75Cys Multiple submitters ⚠
- p.Val364Ile Multiple submitters febrile seizures, familial, 11 ⚠
- c.1126+13C>T Single submitter familial temporal lobe epilepsy 5
- c.1126+4A>G Single submitter
- c.1127-25_1127-24dup Single submitter
- c.1127-25dup Single submitter
- c.116+5G>C Single submitter febrile seizures, familial, 11
- c.117-25562dup Single submitter familial temporal lobe epilepsy 5
- c.192+29464G>T Single submitter familial temporal lobe epilepsy 5
- c.192+4A>C Single submitter febrile seizures, familial, 11
- c.192+5_192+15del Single submitter febrile seizures, familial, 11
- c.535-1G>A Single submitter febrile seizures, familial, 11
- c.535-1G>T Single submitter febrile seizures, familial, 11
- c.636+5G>A Single submitter febrile seizures, familial, 11
- c.747+4A>G Single submitter febrile seizures, familial, 11
- c.748-3T>C Single submitter febrile seizures, familial, 11
- c.-108G>A Single submitter familial temporal lobe epilepsy 5
- c.-11_-10del Single submitter
- c.-191T>C Single submitter familial temporal lobe epilepsy 5
- c.-203C>T Single submitter familial temporal lobe epilepsy 5
- c.-247C>A Single submitter familial temporal lobe epilepsy 5
- c.-45C>A Single submitter familial temporal lobe epilepsy 5
- c.-51C>A Single submitter familial temporal lobe epilepsy 5
- c.-76T>G Single submitter familial temporal lobe epilepsy 5
- c.-87C>A Single submitter familial temporal lobe epilepsy 5
- c.*132C>T Single submitter familial temporal lobe epilepsy 5
- c.*260A>C Single submitter familial temporal lobe epilepsy 5
- c.*286A>G Single submitter familial temporal lobe epilepsy 5
- p.Ala188Val Single submitter ⚠
- p.Ala350Val Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala55fs Single submitter febrile seizures, familial, 11
- p.Ala96Thr Single submitter ⚠
- p.Arg129Lys Single submitter ⚠
- p.Arg184Gln Single submitter febrile seizures, familial, 11 ⚠
- p.Arg264Leu Single submitter ⚠
- p.Arg318Thr Single submitter ⚠
- p.Arg367Ser Single submitter ⚠
- p.Arg7Cys Single submitter febrile seizures, familial, 11 ⚠
- p.Arg7Leu Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Arg92Ter Single submitter febrile seizures, familial, 11
- p.Asn127Ser Single submitter febrile seizures, familial, 11 ⚠
- p.Asn239Asp Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Asn239Ser Single submitter ⚠
- p.Asn308Asp Single submitter epilepsy ⚠
- p.Asn343Asp Single submitter febrile seizures, familial, 11 ⚠
- p.Asn343Ser Single submitter ⚠
- p.Asp192Val Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp241Glu Single submitter ⚠
- p.Asp83His Single submitter ⚠
- p.Gln207Ter Single submitter familial temporal lobe epilepsy 5
- p.Gln69Arg Single submitter ⚠
- p.Glu110Val Single submitter febrile seizures, familial, 11 ⚠
- p.Glu199Gln Single submitter ⚠
- p.Glu212= Single submitter
- p.Glu302Gly Single submitter febrile seizures, familial, 11 ⚠
- p.Glu398Lys Single submitter febrile seizures, familial, 11 ⚠
- p.Gly119Glu Single submitter ⚠
- p.Gly158Asp Single submitter ⚠
- p.Gly180Ser Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Gly363Ala Single submitter ⚠
- p.Gly363Arg Single submitter febrile seizures, familial, 11 ⚠
- p.Gly403Ter Single submitter familial temporal lobe epilepsy 5
- p.Gly5Arg Single submitter ⚠
- p.Gly9Asp Single submitter familial temporal lobe epilepsy 5 ⚠
- p.His140Arg Single submitter febrile seizures, familial, 11 ⚠
- p.His151= Single submitter familial temporal lobe epilepsy 5
- p.His313Gln Single submitter ⚠
- p.Ile165Thr Single submitter febrile seizures, familial, 11 ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile43fs Single submitter febrile seizures, familial, 11
- p.Ile46Thr Single submitter ⚠
- p.Leu310Phe Single submitter ⚠
- p.Leu358Ile Single submitter ⚠
- p.Leu358Phe Single submitter febrile seizures, familial, 11 ⚠
- p.Leu408Ser Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Leu432Met Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Lys106Arg Single submitter ⚠
- p.Lys255Gln Single submitter ⚠
- p.Lys337Glu Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Lys57Arg Single submitter febrile seizures, familial, 11 ⚠
- p.Lys64Asn Single submitter ⚠
- p.Met223Arg Single submitter ⚠
- p.Met223Ile Single submitter ⚠
- p.Met226fs Single submitter febrile seizures, familial, 11
- p.Met226Lys Single submitter febrile seizures, familial, 11 ⚠
- p.Met235Thr Single submitter febrile seizures, familial, 11 ⚠
- p.Met285Val Single submitter ⚠
- p.Met329Ile Single submitter ⚠
- p.Met412Thr Single submitter ⚠
- p.Phe163del Single submitter febrile seizures, familial, 11
- p.Phe21Leu Single submitter febrile seizures, familial, 11 ⚠
- p.Phe238Leu Single submitter ⚠
- p.Phe245= Single submitter febrile seizures, familial, 11
- p.Phe344Leu Single submitter ⚠
- p.Phe97Leu Single submitter febrile seizures, familial, 11 ⚠
- p.Pro416Ser Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Pro437Leu Single submitter ⚠
- p.Pro47Arg Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Pro70Thr Single submitter ⚠
- p.Ser120Arg Single submitter febrile seizures, familial, 11 ⚠
- p.Ser120Asn Single submitter ⚠
- p.Ser132Cys Single submitter ⚠
- p.Ser164Phe Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Ser173Ala Single submitter febrile seizures, familial, 11 ⚠
- p.Ser219Arg Single submitter ⚠
- p.Ser299Pro Single submitter ⚠
- p.Ser372Thr Single submitter ⚠
- p.Ser77Thr Single submitter febrile seizures, familial, 11 ⚠
- p.Thr291Ala Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Thr373Lys Single submitter febrile seizures, familial, 11 ⚠
- p.Thr374Met Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Thr402Asn Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Trp19Cys Single submitter ⚠
- p.Trp200Arg Single submitter ⚠
- p.Trp253Arg Single submitter febrile seizures, familial, 11 ⚠
- p.Trp385Arg Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Trp385Cys Single submitter ⚠
- p.Tyr217Cys Single submitter febrile seizures, familial, 11 ⚠
- p.Tyr231His Single submitter ⚠
- p.Tyr332His Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Tyr336Cys Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Tyr336Ter Single submitter epilepsy
- p.Tyr366His Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Tyr37His Single submitter familial temporal lobe epilepsy 5 ⚠
- p.Tyr404Cys Single submitter ⚠
- p.Val347Leu Single submitter febrile seizures, familial, 11 ⚠
- p.Val364Leu Single submitter ⚠
- p.Val364Leu Single submitter ⚠
- p.Val42Ala Single submitter febrile seizures, familial, 11 ⚠
- p.Cys346Phe No assertion criteria CPA6-related disorder ⚠
- p.Gly406Ala No assertion criteria prostate cancer ⚠