CNTNAP2 — 1850 ClinVar variants

All ClinVar germline CNTNAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 767 flagged for review →

56 Pathogenic · 10 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 108 Conflicting · 103 Benign · 51 Benign/Likely benign · 601 Likely benign · 888 Uncertain significance

Full CNTNAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 767

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 29

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

CNTNAP2 p.Ala1199Ser Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ala25Thr Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ala545Val Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1052His Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg114Gln Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Arg790His Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Arg884Gln Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg900Gln Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Asn360Asp Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Asn407Ser Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Asp1038Asn Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Asp1129His Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1323Ala Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp528Asn Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Cys578Tyr Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu494Lys Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly620Arg Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ile1253Thr Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ile471Val Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ile639Thr Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ile869Thr Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Leu1065Ile Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Leu533Ile Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser382Asn Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Val345Ile Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Val369Met Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Val664Ile Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Val786Ile Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Val870Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 572

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 572

CNTNAP2 p.Ala1026Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1036Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1060Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1199Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1216Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1216Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1216Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1227Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1241Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1301Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1307Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1309Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala213Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala380Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala479Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala545Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala667Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala679Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala729Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala801Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg1016Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1052Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg1088Gln Uncertain significance Multiple submitters
CNTNAP2 p.Arg1088Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1095Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1119Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg1119His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1288Cys Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Arg1288Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg147Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg160His Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Arg160Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg171His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg283Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg283His Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg286Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg286Trp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg300Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg462His Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg483Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg906His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg92Trp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn1116Asp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn1185Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn1317Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asn302Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn346Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn360Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asn391Lys Uncertain significance Multiple submitters
CNTNAP2 p.Asn546Asp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn712Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn839Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1028Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp119Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1229Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1323Glu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp234Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp272Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp425Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp446Gly Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Asp475Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp746Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp763Gly Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp774Tyr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp80Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp880Asn Uncertain significance Multiple submitters
CNTNAP2-related disorder
CNTNAP2 p.Cys21Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Cys35Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Cys743Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln1039Glu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln1165Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gln457Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gln518Glu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln897Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu1121Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu1121Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu1297Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu222Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu282Gly Uncertain significance Multiple submitters
CNTNAP2-related disorder
CNTNAP2 p.Glu535Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu713Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu733Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu982Gly Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Gly10Glu Uncertain significance Multiple submitters
CNTNAP2 p.Gly323Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly362Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gly420Asp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly456Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly542Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gly652Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly70Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly779Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gly817Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly986Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.His1137Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.His227Gln Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.His764Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile1051Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile1264Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile155Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile212Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile259Met Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile288Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile347Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile347Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile639Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile675Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile98Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu1221Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu1282Pro Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu13Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu150Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu226Met Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu22Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu256Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu292Gln Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Leu43Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu453Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu502Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu605Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Lys1127Glu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Lys331Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Lys34Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Lys495Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Lys540Asn Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Lys67Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Lys783Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Met1286Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Met669Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Phe48Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe758Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe860Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro1037Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro1132Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro375Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro515Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro541Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro560Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro616Ser Uncertain significance Multiple submitters
CNTNAP2 p.Pro621Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro699Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro699Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro76Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro804Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro806Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser1200Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser1261Ala Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser219Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ser221Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ser287Ile Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 166

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 166

CNTNAP2 p.Ala1307Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala351Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala747Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala747Val Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg114Trp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1284Trp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg157His Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg171Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg171Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg389Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg734Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg884Trp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg906Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Arg915His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg915Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg92Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asn139Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn343Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asn468Tyr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn878Asp Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1004Asn Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Asp1129Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1143Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Asp311Asn Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp417Tyr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp748Gly Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp748Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gln522His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu596Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Glu680Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu683Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gly344Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Gly344Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly61Ser Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly709Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile1158Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile1322Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ile133Thr Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu14Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Leu240Met Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Met1013Ile Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Met521Val Uncertain significance Multiple submitters
CNTNAP2 p.Met551Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Phe1146Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Phe321Leu Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe366Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro1112Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Pro1173Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ser413Asn Uncertain significance Multiple submitters
autism, susceptibility to, 15
CNTNAP2 p.Ser79Arg Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser820Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ser857Phe Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Thr1197Ile Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Thr946Lys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Trp134Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Tyr113Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Tyr58Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Tyr628His Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Tyr716Cys Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Tyr82Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Val1203Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Val146Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Val211Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Val627Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Val708Phe Uncertain significance Multiple submitters
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Val772Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTNAP2 p.Ala1108Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala1301Gly Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala47Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala481Thr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala553Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala821Thr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ala927Asp Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg1105Ser Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg462Cys Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg777His Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Arg884Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Asn1147Ser Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn1296His Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Asn379Lys Uncertain significance Single submitter
CNTNAP2 p.Asn405Ile Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asn561Ser Uncertain significance Single submitter
CNTNAP2 p.Asn735Lys Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp108Glu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp1315Ala Uncertain significance Single submitter
CNTNAP2 p.Asp165Gly Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp349Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp477Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp748Ala Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp774Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Asp794Glu Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Asp822Glu Uncertain significance Single submitter
CNTNAP2 p.Asp879Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln1086Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln129His Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gln297Lys Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu683Gln Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Glu982Gln Uncertain significance Single submitter
CNTNAP2 p.Gly1215Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly228Arg Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly228Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly261Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly388Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly408Ser Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly567Ala Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Gly90Arg Uncertain significance Single submitter
CNTNAP2 p.Gly962Arg Uncertain significance Single submitter
CNTNAP2 p.His1294Arg Uncertain significance Single submitter
CNTNAP2 p.His298Tyr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ile172Thr Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu1091Val Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Leu240Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Leu409Phe Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Leu43Phe Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Leu947Phe Uncertain significance Single submitter
CNTNAP2 p.Lys1299Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Met1013Lys Uncertain significance Single submitter
CNTNAP2 p.Met337Val Uncertain significance Single submitter
CNTNAP2 p.Met551Lys Uncertain significance Single submitter
CNTNAP2 p.Met692Ile Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Met942Ile Uncertain significance Single submitter
CNTNAP2 p.Phe1019Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe1184Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe1273Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe1318Val Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Phe200Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro1173Ala Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro320Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro38Ser Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro44Arg Uncertain significance Single submitter
CNTNAP2 p.Pro560Ser Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro832Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Pro902Leu Conflicting Single submitter
Inborn genetic diseases
CNTNAP2 p.Ser1054Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser1068Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Ser106Thr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser1114Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser1200Leu Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser182Cys Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser30Cys Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser41Phe Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser49Arg Uncertain significance Single submitter
Inborn genetic diseases
CNTNAP2 p.Ser50Gly Uncertain significance Single submitter
CNTNAP2 p.Ser53Cys Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser575Arg Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser857Tyr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser873Thr Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Ser96Gly Conflicting Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Thr111Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome
CNTNAP2 p.Thr348Asn Uncertain significance Single submitter
cortical dysplasia-focal epilepsy syndrome

All CNTNAP2 variants

Pathogenic 56

p.Asp1237fs Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asp615fs Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Cys563_Glu564delinsTer Multiple submitters Inborn genetic diseases
p.Gln1186fs Multiple submitters Inborn genetic diseases
p.Gly1161fs Multiple submitters autism, susceptibility to, 15
p.Gly701Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Trp184Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Trp718Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1671-1G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+2T>C Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn1198fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn561fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn712fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn799fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gln1086Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gln151fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gln232Ter Single submitter
p.Gln284fs Single submitter
p.Gln439fs Single submitter Inborn genetic diseases
p.Gln607Ter Single submitter
p.Gln671Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gln684Ter Single submitter
p.Glu370Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Glu467Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Glu683fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Glu733Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gly432fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gly977Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.His1232fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.His262fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ile161fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ile17fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ile212fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ile259fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Lys204Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Lys217Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Lys603Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Met266fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Pro739_Lys740insTer Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser219fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser359Ter Single submitter
p.Ser449Ter Single submitter
p.Ser857fs Single submitter Pitt-Hopkins-like syndrome
p.Thr676fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Trp134Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Trp706Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Tyr1136Ter Single submitter Inborn genetic diseases
p.Tyr717Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Tyr970Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Val145fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Val194fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Val660fs Single submitter
c.(?_550 No assertion criteria cortical dysplasia-focal epilepsy syndrome
p.Cys682Ter No assertion criteria cortical dysplasia-focal epilepsy syndrome
p.Cys989fs No assertion criteria cortical dysplasia-focal epilepsy syndrome
p.Glu494Ter No assertion criteria cortical dysplasia-focal epilepsy syndrome

Pathogenic/Likely pathogenic 10

c.97+1G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg1088Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg1095Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg483Ter Multiple submitters Inborn genetic diseases
p.Asn454fs Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gln1111Ter Multiple submitters Inborn genetic diseases
p.Gly228Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Trp833fs Multiple submitters Inborn genetic diseases
p.Trp84Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Trp882Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome

Likely pathogenic 33

c.1348+1G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3382-2A>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gln297Ter Multiple submitters CNTNAP2-related disorders
p.Trp166Ter Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1084-2A>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1349-1G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1349-2A>G Single submitter Neurodevelopmental delay
c.1778-1G>C Single submitter autism spectrum disorder
c.208+1G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2383+1G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3011-2A>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3248-2A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3345_3381+346del Single submitter cortical dysplasia-focal epilepsy syndrome
c.402+1G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.97+3A>T Single submitter intellectual disability
c.98-1G>A Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ala4fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn379fs Single submitter CNTNAP2-related disorders
p.Asp191fs Single submitter CNTNAP2-related disorders
p.Asp700fs Single submitter
p.Gln881Ter Single submitter
p.Glu229del Single submitter
p.Lys842fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Met1224fs Single submitter
p.Met551fs Single submitter
p.Ser575fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Thr263fs Single submitter CNTNAP2-related disorders
p.Trp573Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Tyr1136fs Single submitter cortical dysplasia-focal epilepsy syndrome
p.Tyr260fs Single submitter
p.Tyr595Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Tyr797Ter Single submitter
p.Glu1010Ter No assertion criteria

Conflicting classifications of pathogenicity 108

c.1348+13T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+13T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+7G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1898-9T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-11C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+12C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2554+14G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2773+12A>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3010+5G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3010+6G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3011-3C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3476-7C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-2A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-3C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-5_3716-4insCTGT Single submitter
c.3716-6_3716-5insCG Single submitter
c.3716-6C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-6delinsTTCTG Single submitter
c.3797-5G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.402+8A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+10G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-11T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.755-5C>T Single submitter Inborn genetic diseases
c.755-6A>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.939+14C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.939+8T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.-32C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.*5281G>A Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ala1060= Single submitter Inborn genetic diseases
p.Ala1199Ser Single submitter Inborn genetic diseases ⚠
p.Ala1309= Single submitter Inborn genetic diseases
p.Ala25Thr Single submitter Inborn genetic diseases ⚠
p.Ala380= Single submitter Inborn genetic diseases
p.Ala416= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ala545Val Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1016Ter Single submitter cortical dysplasia-focal epilepsy syndrome
p.Arg1052His Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg114Gln Single submitter Inborn genetic diseases ⚠
p.Arg6= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Arg790His Single submitter Inborn genetic diseases ⚠
p.Arg884Gln Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg900= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Arg900Gln Single submitter Inborn genetic diseases ⚠
p.Asn215= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asn360Asp Single submitter Inborn genetic diseases ⚠
p.Asn407Ser Single submitter Inborn genetic diseases ⚠
p.Asn485= Single submitter Inborn genetic diseases
p.Asn712= Single submitter Inborn genetic diseases
p.Asn735Lys Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn91= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asp1038Asn Single submitter Inborn genetic diseases ⚠
p.Asp108= Single submitter autism, susceptibility to, 15
p.Asp1129His Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp1323Ala Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp527= Single submitter Inborn genetic diseases
p.Asp528Asn Single submitter Inborn genetic diseases ⚠
p.Asp746= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Asp794Asn Single submitter Inborn genetic diseases
p.Cys578Tyr Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Gln129= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gln522= Single submitter Inborn genetic diseases
p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer Single submitter cortical dysplasia-focal epilepsy syndrome
p.Glu229= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Glu494Lys Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly1174= Single submitter Inborn genetic diseases
p.Gly1266= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Gly228Arg Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly493= Single submitter Inborn genetic diseases
p.Gly620Arg Single submitter Inborn genetic diseases ⚠
p.His764= Single submitter Inborn genetic diseases
p.Ile1253Thr Single submitter Inborn genetic diseases ⚠
p.Ile1331_Ter1332= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ile172Thr Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile471Val Single submitter Inborn genetic diseases ⚠
p.Ile639Thr Single submitter Inborn genetic diseases ⚠
p.Ile869Thr Single submitter Inborn genetic diseases ⚠
p.Leu1065Ile Single submitter Inborn genetic diseases ⚠
p.Leu1091Val Single submitter Inborn genetic diseases ⚠
p.Leu240= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Leu39= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Leu533Ile Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Phe200= Single submitter Inborn genetic diseases
p.Phe836= Single submitter Inborn genetic diseases
p.Pro1037= Single submitter Inborn genetic diseases
p.Pro541= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Pro60= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Pro902Leu Single submitter Inborn genetic diseases ⚠
p.Ser118= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser1200= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser1225= Single submitter Inborn genetic diseases
p.Ser1226= Single submitter Inborn genetic diseases
p.Ser382Asn Single submitter Inborn genetic diseases ⚠
p.Ser780= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser79= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser808= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Ser96Gly Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr1058= Single submitter Inborn genetic diseases
p.Thr315= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Thr632= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Val1134= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Val187= Single submitter Inborn genetic diseases
p.Val345Ile Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Val361= Single submitter Inborn genetic diseases
p.Val369Met Single submitter cortical dysplasia-focal epilepsy syndrome ⚠
p.Val664Ile Single submitter Inborn genetic diseases ⚠
p.Val708Ala Single submitter Inborn genetic diseases ⚠
p.Val786Ile Single submitter Inborn genetic diseases ⚠
p.Val870Ala Single submitter Inborn genetic diseases ⚠

Benign 103

c.1349-30T>A Multiple submitters
c.1499-86C>T Multiple submitters
c.1777+54C>T Multiple submitters
c.1778-125G>A Multiple submitters
c.1897+25A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1897+89A>G Multiple submitters
c.2099-53C>A Multiple submitters
c.2256-42T>C Multiple submitters
c.2256-74G>A Multiple submitters
c.2383+183G>A Multiple submitters
c.2773+76del Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3010+100T>C Multiple submitters
c.3382-109A>G Multiple submitters
c.3382-142G>C Multiple submitters
c.3382-200C>G Multiple submitters
c.3382-34G>A Multiple submitters
c.3476-94T>G Multiple submitters
c.3796+88G>A Multiple submitters
c.3796+91T>C Multiple submitters
c.3797-61A>T Multiple submitters
c.3797-6C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.755-147G>T Multiple submitters
c.755-188A>T Multiple submitters
c.755-258C>A Multiple submitters
c.939+142C>A Multiple submitters
c.-115G>A Multiple submitters
c.-49T>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*1187G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*1433A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*1557A>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*2157A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*279C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*3742A>G Multiple submitters
c.*3928C>T Multiple submitters
c.*4934C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala1241= Multiple submitters Inborn genetic diseases
p.Thr373= Multiple submitters Inborn genetic diseases
c.1083+133A>G Single submitter
c.1083+266C>T Single submitter
c.1084-113del Single submitter
c.1498+117AAAC[3] Single submitter
c.1498+232T>C Single submitter
c.1498+242A>C Single submitter
c.1670+168T>G Single submitter
c.1777+156_1777+158del Single submitter
c.1777+157_1777+158del Single submitter
c.1777+266T>G Single submitter
c.1778-239A>G Single submitter
c.1778-264A>C Single submitter
c.1897+202C>T Single submitter
c.1897+259A>T Single submitter
c.1898-252dup Single submitter
c.208+66AT[7] Single submitter
c.2098+196del Single submitter
c.2098+232G>T Single submitter
c.2256-203T>C Single submitter
c.2256-271A>C Single submitter
c.2256-276T>C Single submitter
c.2554+250C>T Single submitter
c.2554+283T>A Single submitter
c.2773+76dup Single submitter
c.3011-167dup Single submitter
c.3247+269T>G Single submitter
c.3475+159A>G Single submitter
c.3476-144C>T Single submitter
c.3476-242T>C Single submitter
c.3476-278C>T Single submitter
c.3476-9_3476-8del Single submitter cortical dysplasia-focal epilepsy syndrome
c.3796+191A>G Single submitter
c.3796+258C>G Single submitter
c.3797-101G>C Single submitter
c.3797-275T>C Single submitter
c.402+132T>C Single submitter
c.403-148A>G Single submitter
c.550+148AT[6] Single submitter
c.551-185C>T Single submitter
c.940-8del Single submitter cortical dysplasia-focal epilepsy syndrome
c.98-190677C>T Single submitter
c.98-240362T>G Single submitter
c.98-240662G>A Single submitter
c.98-240771G>A Single submitter
c.98-279C>A Single submitter
c.98-90737G>T Single submitter
c.98-90785C>A Single submitter
c.*1059A>T Single submitter
c.*1276_*1280dup Single submitter
c.*1412_*1422dup Single submitter
c.*175dup Single submitter
c.*2670T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.*2921C>T Single submitter
c.*3144A>G Single submitter
c.*3921G>A Single submitter
c.*3998_*3999dup Single submitter
c.*3999dup Single submitter
c.*4738C>G Single submitter
c.*4797G>C Single submitter
c.*4839G>A Single submitter
c.*48G>A Single submitter
c.*5022C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.*678G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.*9T>C Single submitter
p.Ser666= Single submitter cortical dysplasia-focal epilepsy syndrome
p.Thr589Pro Single submitter

Benign/Likely benign 51

c.1777+10A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1778-7G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1897+18A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2099-15T>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2256-6A>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2383+15C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2773+9T>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3011-11C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3247+15A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3247+16C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3248-17T>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3248-4A>G Multiple submitters Inborn genetic diseases
c.3381+17A>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3381+20T>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3382-7C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3476-15C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3716-17TCTT[3] Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3716-5_3716-4insGT Multiple submitters Inborn genetic diseases
c.3716-7_3716-6insTT Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.402+13C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.551-11_551-10insG Multiple submitters Inborn genetic diseases
c.551-15_551-14insG Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.551-8del Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.551-8dup Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.940-17A>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.98-19_98-16del Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*1017T>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*3392C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*3531G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.*3540G>A Multiple submitters
p.Ala416Val Multiple submitters Inborn genetic diseases
p.Ala553= Multiple submitters Inborn genetic diseases
p.Arg1195= Multiple submitters Inborn genetic diseases
p.Asn1035= Multiple submitters Inborn genetic diseases
p.Asn379= Multiple submitters Inborn genetic diseases
p.Asn436= Multiple submitters Inborn genetic diseases
p.Cys730= Multiple submitters Inborn genetic diseases
p.Glu1211= Multiple submitters Inborn genetic diseases
p.Gly285Ala Multiple submitters Inborn genetic diseases
p.Gly344= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.His227= Multiple submitters Inborn genetic diseases
p.Ile437= Multiple submitters Inborn genetic diseases
p.Pro1218= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser106= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser278= Multiple submitters Inborn genetic diseases
p.Ser570= Multiple submitters Inborn genetic diseases
p.Ser760= Multiple submitters Inborn genetic diseases
p.Ser964= Multiple submitters Inborn genetic diseases
p.Thr1220= Multiple submitters autism, susceptibility to, 15
p.Val279= Multiple submitters Inborn genetic diseases
p.Val786Leu Multiple submitters Inborn genetic diseases

Likely benign 601

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

c.1083+16C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1083+17G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1349-34A>G Multiple submitters
c.1349-8C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.1777+23T>C Multiple submitters
c.1778-106A>G Multiple submitters
c.1897+8T>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.209-12G>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2098+75G>T Multiple submitters
c.2255+100C>T Multiple submitters
c.2255+13G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2384-38G>T Multiple submitters
c.2774-81A>C Multiple submitters
c.3010+12C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3247+16C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3248-10T>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3248-6C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3475+15C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3475+16G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3475+19A>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3476-15_3476-12dup Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3476-9T>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3716-9T>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3797-14_3797-12del Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.551-10_551-9insGT Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.754+14G>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.755-4G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.939+15G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.939+19A>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.939+9G>C Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.940-13C>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.98-20T>G Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.98-41G>A Multiple submitters
c.98-56C>A Multiple submitters
p.Ala1192= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala1301= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala1307= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala545= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala747= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg389= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg389Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn1313= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn1314= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn421= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn839= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn878= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asp1101= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asp78= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Cys682= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Glu149= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Glu564= Multiple submitters Inborn genetic diseases
p.Glu868= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gly144= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gly285= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gly912= Multiple submitters Inborn genetic diseases
p.His1120= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.His1202= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.His298= Multiple submitters Inborn genetic diseases
p.His459= Multiple submitters Inborn genetic diseases
p.His985= Multiple submitters Inborn genetic diseases
p.Ile471= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ile474= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu1078= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu116= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu1330= Multiple submitters Inborn genetic diseases
p.Leu247= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu271= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu356= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu384= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu394= Multiple submitters Inborn genetic diseases
p.Leu663= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Leu765= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Lys354= Multiple submitters Inborn genetic diseases
p.Lys847= Multiple submitters Inborn genetic diseases
p.Phe544= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro1081= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro1139= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro1223= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro197= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro29= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro387= Multiple submitters Inborn genetic diseases
p.Pro616= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro621= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro788= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro902= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser1180= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser1217= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser1306= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser322= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser367= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser451= Multiple submitters Inborn genetic diseases
p.Ser57= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser619= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser77= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser807= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser820= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser961= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Thr218= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Thr237= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Thr440= Multiple submitters Inborn genetic diseases
p.Tyr1066= Multiple submitters Inborn genetic diseases
p.Tyr312= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Tyr534= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Tyr681= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Tyr797= Multiple submitters Inborn genetic diseases
p.Val1102Ala Multiple submitters Inborn genetic diseases
p.Val397= Multiple submitters Inborn genetic diseases
p.Val433= Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Val870= Multiple submitters Inborn genetic diseases
c.1083+10T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+15C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+16C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+17G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+17G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+18C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1083+222T>A Single submitter
c.1083+22A>G Single submitter
c.1083+282T>C Single submitter
c.1084-12del Single submitter cortical dysplasia-focal epilepsy syndrome
c.1084-17G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1084-17G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1084-4A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1084-8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1348+11C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1348+13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1348+14A>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1348+17T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1349-13T>G Single submitter
c.1349-18_1349-17del Single submitter cortical dysplasia-focal epilepsy syndrome
c.1349-20T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+12A>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+12A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+15C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1499-20C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1499-293A>G Single submitter
c.1670+16A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1670+176T>A Single submitter
c.1670+18C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1670+19C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1670+8A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1671-16TC[4] Single submitter cortical dysplasia-focal epilepsy syndrome
c.1671-16TC[6] Single submitter cortical dysplasia-focal epilepsy syndrome
c.1671-17G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1671-9C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+11A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+137C>T Single submitter
c.1777+158dup Single submitter
c.1777+15A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+281G>A Single submitter
c.1777+8C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1777+9C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1778-12T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1778-19G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1778-7G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+19T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+7G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+8T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+9_1897+10del Single submitter cortical dysplasia-focal epilepsy syndrome
c.1898-14T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1898-20G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.1898-252del Single submitter
c.1898-7C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+15G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+19C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+19C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+20T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+6C>A Single submitter
c.208+8A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.208+9A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-10C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-11C>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-16C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-17C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-18A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-28_209-15del Single submitter
c.209-5T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-8A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.209-9C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2098+10G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2098+13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2098+8G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-14G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-16T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-18_2099-16del Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-19C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-4G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2099-6T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+10T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+11_2255+48del Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+15G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+16C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+17A>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2255+259G>A Single submitter
c.2255+9C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2256-17C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2256-262C>T Single submitter
c.2256-8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2383+11A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2383+15C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2383+17G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2384-10C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2384-111A>C Single submitter
c.2384-16dup Single submitter
c.2384-16T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2384-6C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.2554+297T>A Single submitter
c.2555-115C>T Single submitter
c.2555-19A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2555-5T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2555-8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2555-9C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.2773+17T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.2773+19A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.2773+75_2773+76del Single submitter
c.2774-11G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3010+11A>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3011-21TC[4] Single submitter cortical dysplasia-focal epilepsy syndrome
c.3011-6T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3247+19A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3247+232G>A Single submitter
c.3247+83G>A Single submitter
c.3248-11T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3248-12T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3248-16C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3248-244G>A Single submitter
c.3381+17A>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3381+8T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3382-17T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+11G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+14T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+15C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+18T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+20G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3475+30C>T Single submitter
c.3475+37C>T Single submitter
c.3475+46T>G Single submitter
c.3476-12_3476-8del Single submitter cortical dysplasia-focal epilepsy syndrome
c.3476-13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3476-16del Single submitter cortical dysplasia-focal epilepsy syndrome
c.3715+16A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3715+17C>T Single submitter
c.3715+23_3715+51del Single submitter cortical dysplasia-focal epilepsy syndrome
c.3715+275G>A Single submitter
c.3716-12C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-13_3716-12insATTT Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-16_3716-15del Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-17_3716-16insGTTT Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-17_3716-16insTTTT Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-20G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-4A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-6C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3716-7_3716-6insTTCC Single submitter cortical dysplasia-focal epilepsy syndrome
c.3796+13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3796+16A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.3796+8A>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.3797-12T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.3797-5G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.402+20G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.402+241G>A Single submitter
c.402+9T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.402+9T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.403-10C>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.403-14A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.403-17_403-14del Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+10G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+13T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+14T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+16_550+17insGGCAGGTTTTATCTTTTTTTAAATTTT Single submitter cortical dysplasia-focal epilepsy syndrome
c.550+36T>C Single submitter
c.550+9C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-10T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-12_551-11insG Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-121G>C Single submitter
c.551-15T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-17T>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-211C>G Single submitter
c.551-254A>G Single submitter
c.551-7G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-7G>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-8T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.551-9T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.754+10G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.754+11_754+14del Single submitter cortical dysplasia-focal epilepsy syndrome
c.754+12C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.755-11T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.755-15C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.755-16A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.755-8G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.939+16T>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.939+286G>C Single submitter
c.939+6T>C Single submitter
c.939+9G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.940-12T>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.940-28G>A Single submitter
c.97+19G>A Single submitter cortical dysplasia-focal epilepsy syndrome
c.97+22C>T Single submitter
c.97+49T>G Single submitter

Uncertain significance 888

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

c.2098+5G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.2255+3G>A Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.3248-3T>C Multiple submitters
c.550+5G>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
c.755-3C>T Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ala1026Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1036Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1060Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1193Thr Multiple submitters Inborn genetic diseases
p.Ala1199Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1216Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala1216Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1216Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1227Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1241Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1301Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1307Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1307Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala1309Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala213Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala351Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala380Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala479Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala545Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala667Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala679Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala729Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala747Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala747Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ala801Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala908Val Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg1016Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1052Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1088Gln Multiple submitters ⚠
p.Arg1088Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1095Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1119Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1119His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg114Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1181Gly Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg1284Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg1288Cys Multiple submitters autism, susceptibility to, 15 ⚠
p.Arg1288Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg147Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg157His Multiple submitters Inborn genetic diseases ⚠
p.Arg160His Multiple submitters autism, susceptibility to, 15 ⚠
p.Arg160Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg171Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg171His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg171Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg283Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg283His Multiple submitters Inborn genetic diseases ⚠
p.Arg286Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg286Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg300Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg389Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg462His Multiple submitters Inborn genetic diseases ⚠
p.Arg483Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg734Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg790Cys Multiple submitters Inborn genetic diseases
p.Arg790Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg884Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg906Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg906His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg915Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Arg915His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg915Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Arg92Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg92Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn1116Asp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn1185Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn1317Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn139Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn302Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn343Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn346Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn360Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn391Lys Multiple submitters ⚠
p.Asn468Tyr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn546Asp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn712_Glu713delinsLysLys Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asn712Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn839Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asn878Asp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp1004Asn Multiple submitters autism, susceptibility to, 15 ⚠
p.Asp1028Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1129Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp1143Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp119Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp1229Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp130Glu Multiple submitters Inborn genetic diseases
p.Asp1323Glu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp186Gly Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Asp234Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp272Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp311Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp417Tyr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp425Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp446Gly Multiple submitters autism, susceptibility to, 15 ⚠
p.Asp475Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp746Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp748Gly Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp748Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp763Gly Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp774Tyr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Asp80Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp880Asn Multiple submitters CNTNAP2-related disorder ⚠
p.Cys21Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys35Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Cys743Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gln1039Glu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gln1165Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1183His Multiple submitters Inborn genetic diseases
p.Gln457Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln518Glu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gln522His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gln897Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1121Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1121Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1297Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu222Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Glu282Gly Multiple submitters CNTNAP2-related disorder ⚠
p.Glu535Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Glu596Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu680Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Glu683Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu713Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Glu733Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu982Gly Multiple submitters autism, susceptibility to, 15 ⚠
p.Gly10Glu Multiple submitters ⚠
p.Gly323Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly344Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly344Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly362Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly420Asp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly456Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly542Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly61Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly652Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly709Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly70Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly731Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Gly779Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly787Ala Multiple submitters Inborn genetic diseases
p.Gly817Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Gly986Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.His1137Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.His227Gln Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.His764Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile1051Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1158Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile1264Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile1322Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile133Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile155Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile212Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile259Met Multiple submitters Inborn genetic diseases ⚠
p.Ile288Val Multiple submitters Inborn genetic diseases ⚠
p.Ile347Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile347Val Multiple submitters Inborn genetic diseases ⚠
p.Ile639Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile675Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ile98Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu1221Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Leu1282Pro Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Leu13Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu14Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu150Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Leu226Met Multiple submitters Inborn genetic diseases ⚠
p.Leu22Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu240Met Multiple submitters Inborn genetic diseases ⚠
p.Leu256Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu292Gln Multiple submitters autism, susceptibility to, 15 ⚠
p.Leu39Phe Multiple submitters Inborn genetic diseases
p.Leu43Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Leu453Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu502Val Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Leu605Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys1127Glu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Lys331Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Lys34Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Lys495Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Lys540Asn Multiple submitters autism, susceptibility to, 15 ⚠
p.Lys67Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Lys783Arg Multiple submitters Inborn genetic diseases ⚠
p.Met1013Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Met1286Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Met521Val Multiple submitters ⚠
p.Met551Ile Multiple submitters Inborn genetic diseases ⚠
p.Met669Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe1146Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe321Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Phe366Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe469Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Phe48Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Phe758Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Phe860Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro1037Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1097Ser Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro1112Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1132Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro1173Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro1218Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Pro375Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro515Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro541Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro560Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro616Ser Multiple submitters ⚠
p.Pro621Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro699Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro699Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro76Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro804Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Pro806Leu Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser1056Thr Multiple submitters Inborn genetic diseases
p.Ser1200Thr Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser1261Ala Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser219Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser221Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser248Arg Multiple submitters Inborn genetic diseases
p.Ser269Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser287Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser322Phe Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser367Pro Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Ser413Asn Multiple submitters autism, susceptibility to, 15 ⚠
p.Ser443Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser509Asn Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser570Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser570Trp Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser575Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser619Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser666Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser666Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser785Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser79Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser820Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser857Phe Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Ser964Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr1144Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1176Ile Multiple submitters intellectual disability ⚠
p.Thr1197Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr120Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr1278Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr1319fs Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Thr218Met Multiple submitters Inborn genetic diseases ⚠
p.Thr301Ala Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr373Met Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr589Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr648Met Multiple submitters Inborn genetic diseases ⚠
p.Thr814Ala Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr819Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr819Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Thr831Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr946Lys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Trp1014Arg Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Trp109Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp134Gly Multiple submitters Inborn genetic diseases ⚠
p.Trp134Leu Multiple submitters Inborn genetic diseases ⚠
p.Trp16Cys Multiple submitters Inborn genetic diseases ⚠
p.Trp613Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp752Cys Multiple submitters Inborn genetic diseases ⚠
p.Trp882Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr1066Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr113Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr260His Multiple submitters Inborn genetic diseases ⚠
p.Tyr312Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr372Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr58Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr628His Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr716Cys Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Tyr741His Multiple submitters Inborn genetic diseases ⚠
p.Tyr761His Multiple submitters Inborn genetic diseases ⚠
p.Tyr82Phe Multiple submitters Inborn genetic diseases ⚠
p.Val1079Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1102Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Val1115Ala Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Val1203Ile Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Val1203Leu Multiple submitters Inborn genetic diseases ⚠
p.Val1210Met Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Val146Ile Multiple submitters Inborn genetic diseases ⚠
p.Val162Gly Multiple submitters Inborn genetic diseases ⚠
p.Val178Ile Multiple submitters Inborn genetic diseases ⚠
p.Val211Ala Multiple submitters Inborn genetic diseases ⚠
p.Val246Ile Multiple submitters Inborn genetic diseases ⚠
p.Val369Leu Multiple submitters Inborn genetic diseases ⚠
p.Val376Ile Multiple submitters Inborn genetic diseases ⚠
p.Val422Ala Multiple submitters cortical dysplasia-focal epilepsy syndrome
p.Val461Ile Multiple submitters Inborn genetic diseases ⚠
p.Val46Met Multiple submitters Inborn genetic diseases ⚠
p.Val490Asp Multiple submitters Inborn genetic diseases ⚠
p.Val536Met Multiple submitters Inborn genetic diseases ⚠
p.Val627Ile Multiple submitters Inborn genetic diseases ⚠
p.Val708Phe Multiple submitters cortical dysplasia-focal epilepsy syndrome ⚠
p.Val772Ala Multiple submitters Inborn genetic diseases ⚠
c.1084-3C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1348+5G>C Single submitter cortical dysplasia-focal epilepsy syndrome
c.1498+3A>C Single submitter Inborn genetic diseases
c.1670+5A>G Single submitter cortical dysplasia-focal epilepsy syndrome
c.1897+5C>T Single submitter cortical dysplasia-focal epilepsy syndrome
c.1898-278_1898-276del Single submitter cortical dysplasia-focal epilepsy syndrome