CNTN2 — 864 ClinVar variants

All ClinVar germline CNTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 325 flagged for review →

25 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 20 Conflicting · 27 Benign · 5 Benign/Likely benign · 409 Likely benign · 361 Uncertain significance

Full CNTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 325

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 12

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

CNTN2 p.Ala406Thr Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala596Thr Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg1016Cys Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg235Gln Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg704Gln Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp552Glu Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly965Ser Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu169Phe Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Pro469Thr Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser334Leu Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr316Ile Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val1001Met Conflicting Single submitter
epilepsy, familial adult myoclonic, 5

Predictors lean, ClinVar uncertain 250

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 250

CNTN2 p.Ala230Val Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala263Thr Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala596Val Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg1016His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg140Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg244Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg274His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg320Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg345His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg580His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg62His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg646Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg657Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg736Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg850His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg893Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg914Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn343Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn662Lys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn904Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp524Glu Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp552Gly Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp621Asn Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp976Asn Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln283His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu305Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu79Lys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly278Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly433Arg Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly721Asp Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly743Ala Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly855Glu Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly877Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ile474Val Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ile569Thr Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu1032Val Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu11Val Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys102Thr Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys584Arg Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys702Glu Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys822Gln Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Met1013Thr Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Pro178Leu Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Pro439His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser1037Phe Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser311Pro Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr179Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr53Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr70Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr896Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Trp731Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Trp968Arg Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val220Ile Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val296Ile Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val317Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val449Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val836Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Val91Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala1018Thr Uncertain significance Single submitter
CNTN2 p.Ala1030Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala103Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala106Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala113Pro Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala159Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala225Thr Uncertain significance Single submitter
CNTN2 p.Ala247Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala287Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala377Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala408Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala414Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala431Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala448Ser Uncertain significance Single submitter
CNTN2 p.Ala508Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala518Thr Uncertain significance Single submitter
CNTN2 p.Ala60Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala639Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala63Asp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala650Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala709Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala761Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala859Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala890Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala899Asp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala905Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg128Cys Uncertain significance Single submitter
CNTN2 p.Arg128His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg167His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg196Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg270Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg270Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg274Cys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg355Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg359His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg381Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg381Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg426His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg432His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg443Trp Uncertain significance Single submitter
CNTN2 p.Arg480Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg506Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg561Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg580Leu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg605Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg630Cys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg630His Uncertain significance Single submitter
CNTN2 p.Arg64Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg684Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg684Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg72Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg762Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg779Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg813Lys Uncertain significance Single submitter
CNTN2 p.Arg874Gln Uncertain significance Single submitter
CNTN2 p.Arg913Trp Uncertain significance Single submitter
CNTN2 p.Arg985Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn659Ile Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn918Asp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp548Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp680Glu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp767Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp796Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp839Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp954Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Cys207Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln318His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln644Lys Uncertain significance Single submitter
CNTN2 p.Gln655Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln655Glu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln837Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln838His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gln838Pro Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu1039Asp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu139Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu288Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu305Asp Uncertain significance Single submitter
CNTN2 p.Glu398Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu409Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu707Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu975Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly1004Glu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly181Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly391Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly433Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly484Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly495Ser Uncertain significance Single submitter
CNTN2 p.Gly501Arg Uncertain significance Single submitter
CNTN2 p.Gly523Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly570Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly613Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly725Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5

Predictors split 63

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

CNTN2 p.Arg345Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg432Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg64Trp Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg794Cys Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg87His Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly130Ser Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Met734Thr Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr456Met Uncertain significance Multiple submitters
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala416Thr Uncertain significance Single submitter
CNTN2 p.Ala431Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala444Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala63Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ala768Pro Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg182His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg235Trp Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg320His Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg355Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg359Ser Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg372Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg432Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg506Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg580Cys Likely benign Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg62Cys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg630Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg704Trp Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg72Pro Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Arg72Trp Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asn266His Uncertain significance Single submitter
cerebellar atrophy, visual impairment, and psychomotor retardation;
CNTN2 p.Asn498Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Asp201Asn Uncertain significance Single submitter
CNTN2 p.Asp633Asn Uncertain significance Single submitter
CNTN2 p.Gln413Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu409Lys Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu682Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Glu828Gly Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly434Arg Uncertain significance Single submitter
CNTN2 p.Gly471Ser Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Gly558Glu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.His559Gln Uncertain significance Single submitter
CNTN2 p.His581Gln Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu259Val Uncertain significance Single submitter
CNTN2 p.Leu380Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu503Val Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Leu717Phe Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys218Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Lys223Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Met1013Ile Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Met679Ile Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Phe264Leu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Phe549Leu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Pro246Thr Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Pro607Leu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser453Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser825Leu Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser86Pro Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Ser872Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr487Ile Conflicting Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr509Ile Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr887Ile Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Thr945Asn Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Trp284Arg Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5
CNTN2 p.Trp921Cys Uncertain significance Single submitter
CNTN2 p.Val185Met Uncertain significance Single submitter
epilepsy, familial adult myoclonic, 5

All CNTN2 variants

Pathogenic 25

p.Arg314Ter Multiple submitters epilepsy, familial adult myoclonic, 5
p.Glu54Ter Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ser900fs Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala350fs Single submitter epilepsy, familial adult myoclonic, 5
p.Arg196Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Arg443fs Single submitter epilepsy, familial adult myoclonic, 5
p.Arg863Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Arg914Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Asp315fs Single submitter epilepsy, familial adult myoclonic, 5
p.Asp571fs Single submitter epilepsy, familial adult myoclonic, 5
p.Gln256Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Gln394Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Gln42Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Glu567Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Glu83Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Gly694fs Single submitter epilepsy, familial adult myoclonic, 5
p.Ile690fs Single submitter epilepsy, familial adult myoclonic, 5
p.Lys566Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Lys8Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Ser925fs Single submitter epilepsy, familial adult myoclonic, 5
p.Trp284Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Trp628Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Gly583fs No assertion criteria
p.Pro959fs No assertion criteria epilepsy, familial adult myoclonic, 5
p.Trp168fs No assertion criteria epilepsy, familial adult myoclonic, 5

Pathogenic/Likely pathogenic 2

p.Arg140Ter Multiple submitters epilepsy, familial adult myoclonic, 5
p.Trp731Ter Multiple submitters epilepsy, familial adult myoclonic, 5

Likely pathogenic 15

c.1241-1G>C Multiple submitters epilepsy, familial adult myoclonic, 5
c.2432-2A>G Multiple submitters epilepsy, familial adult myoclonic, 5
c.1240+1G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1240+2_1240+6del Single submitter epilepsy, familial adult myoclonic, 5
c.1695+2T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1696-2A>G Single submitter epilepsy, familial adult myoclonic, 5
c.2126-1G>C Single submitter epilepsy, familial adult myoclonic, 5
c.2197-2A>G Single submitter epilepsy, familial adult myoclonic, 5
c.2544+1G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2731+1G>A Single submitter epilepsy, familial adult myoclonic, 5
c.798-2A>G Single submitter epilepsy, familial adult myoclonic, 5
p.Arg605Ter Single submitter
p.Ile428fs Single submitter epilepsy, familial adult myoclonic, 5
p.Pro356fs Single submitter epilepsy, familial adult myoclonic, 5
p.Trp758Ter Single submitter complex neurodevelopmental disorder

Conflicting classifications of pathogenicity 20

c.1975+10A>G Single submitter epilepsy, familial adult myoclonic, 5
p.Ala406Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala596Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg1016Cys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg235Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg235Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg359Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg506Ter Single submitter epilepsy, familial adult myoclonic, 5
p.Arg704Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg72Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asn266= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp552Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly965Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu169Phe Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met679Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro469Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ser334Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Thr316Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Thr487Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Val1001Met Single submitter epilepsy, familial adult myoclonic, 5 ⚠

Benign 27

c.2196+42C>T Multiple submitters epilepsy, familial adult myoclonic, 5
c.2431+20C>A Multiple submitters epilepsy, familial adult myoclonic, 5
c.2845-12T>C Multiple submitters epilepsy, familial adult myoclonic, 5
c.697+18G>T Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala145Thr Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala60Thr Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala861= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Arg506= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Asn659Asp Multiple submitters epilepsy, familial adult myoclonic, 5
p.Asn99= Multiple submitters epilepsy, familial adult myoclonic, 5
p.His962= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Leu437Val Multiple submitters epilepsy, familial adult myoclonic, 5
p.Phe632= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Pro162= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Pro366Leu Multiple submitters epilepsy, familial adult myoclonic, 5
p.Pro974= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ser876= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Val1024Ile Multiple submitters epilepsy, familial adult myoclonic, 5
c.1696-9del Single submitter epilepsy, familial adult myoclonic, 5
c.2125+8T>A Single submitter epilepsy, familial adult myoclonic, 5
c.391+13G>A Single submitter epilepsy, familial adult myoclonic, 5
c.487+18del Single submitter epilepsy, familial adult myoclonic, 5
c.797+16dup Single submitter epilepsy, familial adult myoclonic, 5
p.Arg657Trp Single submitter epilepsy, familial adult myoclonic, 5
p.Gly823= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly988= Single submitter epilepsy, familial adult myoclonic, 5
p.Ser21= Single submitter epilepsy, familial adult myoclonic, 5

Benign/Likely benign 5

c.2545-12C>T Multiple submitters epilepsy, familial adult myoclonic, 5
c.391+12G>A Multiple submitters epilepsy, familial adult myoclonic, 5
p.Met75Val Multiple submitters epilepsy, familial adult myoclonic, 5
p.Phe35= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Pro429= Multiple submitters epilepsy, familial adult myoclonic, 5

Likely benign 409

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

c.2844+11A>C Multiple submitters epilepsy, familial adult myoclonic, 5
c.697+18G>A Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala859= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Asn171= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Gly719Arg Multiple submitters epilepsy, familial adult myoclonic, 5
p.His534= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Pro995= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Tyr405= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Tyr585= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Val1029Met Multiple submitters epilepsy, familial adult myoclonic, 5
c.1110+10A>G Single submitter epilepsy, familial adult myoclonic, 5
c.1110+19C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1110+19C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1111-11C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1111-11C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1111-14del Single submitter epilepsy, familial adult myoclonic, 5
c.1111-14G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1111-4A>G Single submitter epilepsy, familial adult myoclonic, 5
c.1111-5C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1111-6G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1111-6G>C Single submitter epilepsy, familial adult myoclonic, 5
c.1111-6G>T Single submitter epilepsy, familial adult myoclonic, 5
c.1111-7T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1240+15G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1240+18G>T Single submitter epilepsy, familial adult myoclonic, 5
c.1240+8G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1241-12C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1241-14C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1241-3T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1391+13C>A Single submitter epilepsy, familial adult myoclonic, 5
c.1391+13C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1391+14C>A Single submitter epilepsy, familial adult myoclonic, 5
c.1391+15C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1391+17A>G Single submitter epilepsy, familial adult myoclonic, 5
c.1391+18C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1391+20C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1391+7C>A Single submitter epilepsy, familial adult myoclonic, 5
c.1392-12T>A Single submitter epilepsy, familial adult myoclonic, 5
c.1392-14T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1392-20C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1392-5C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1392-6C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1519+10G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1519+14T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1519+15G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1519+18G>T Single submitter epilepsy, familial adult myoclonic, 5
c.1519+7G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1520-14G>T Single submitter epilepsy, familial adult myoclonic, 5
c.1520-17C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1520-6T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1695+17G>C Single submitter epilepsy, familial adult myoclonic, 5
c.1695+20C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1695+7C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1695+8C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1696-10C>A Single submitter epilepsy, familial adult myoclonic, 5
c.1696-15T>C Single submitter epilepsy, familial adult myoclonic, 5
c.1696-8G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1696-9C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1816+13C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1816+15A>C Single submitter epilepsy, familial adult myoclonic, 5
c.1816+8G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1817-14A>G Single submitter epilepsy, familial adult myoclonic, 5
c.1817-6G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1975+13C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1975+15C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1975+7G>T Single submitter epilepsy, familial adult myoclonic, 5
c.1976-14C>G Single submitter epilepsy, familial adult myoclonic, 5
c.1976-15C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1976-7C>G Single submitter epilepsy, familial adult myoclonic, 5
c.2125+10C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2125+12G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2126-12G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2126-16C>A Single submitter epilepsy, familial adult myoclonic, 5
c.2126-16C>T Single submitter epilepsy, familial adult myoclonic, 5
c.215+11T>G Single submitter epilepsy, familial adult myoclonic, 5
c.215+12G>A Single submitter epilepsy, familial adult myoclonic, 5
c.215+20T>G Single submitter epilepsy, familial adult myoclonic, 5
c.216-11C>T Single submitter epilepsy, familial adult myoclonic, 5
c.216-15T>G Single submitter epilepsy, familial adult myoclonic, 5
c.216-17T>C Single submitter epilepsy, familial adult myoclonic, 5
c.216-18C>T Single submitter epilepsy, familial adult myoclonic, 5
c.216-19C>T Single submitter epilepsy, familial adult myoclonic, 5
c.216-6C>A Single submitter epilepsy, familial adult myoclonic, 5
c.216-9C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2196+7T>G Single submitter epilepsy, familial adult myoclonic, 5
c.2197-4_2197-3dup Single submitter epilepsy, familial adult myoclonic, 5
c.2197-7C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2197-9G>C Single submitter epilepsy, familial adult myoclonic, 5
c.2431+12C>G Single submitter epilepsy, familial adult myoclonic, 5
c.2431+18_2431+19insA Single submitter epilepsy, familial adult myoclonic, 5
c.2431+18C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2432-12A>G Single submitter epilepsy, familial adult myoclonic, 5
c.2432-19A>T Single submitter epilepsy, familial adult myoclonic, 5
c.2432-6C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2432-8G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2544+11A>G Single submitter epilepsy, familial adult myoclonic, 5
c.2544+14T>G Single submitter epilepsy, familial adult myoclonic, 5
c.2544+15G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2544+20T>G Single submitter epilepsy, familial adult myoclonic, 5
c.2544+9C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2545-10C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2545-11G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2545-16C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2545-20G>C Single submitter epilepsy, familial adult myoclonic, 5
c.2545-20G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2545-9C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2731+15C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2731+16T>C Single submitter epilepsy, familial adult myoclonic, 5
c.2731+19G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2732-10T>A Single submitter epilepsy, familial adult myoclonic, 5
c.2732-12C>T Single submitter epilepsy, familial adult myoclonic, 5
c.2845-4A>G Single submitter epilepsy, familial adult myoclonic, 5
c.2845-5C>T Single submitter epilepsy, familial adult myoclonic, 5
c.3013+14C>T Single submitter epilepsy, familial adult myoclonic, 5
c.3013+15C>T Single submitter epilepsy, familial adult myoclonic, 5
c.3013+17A>G Single submitter epilepsy, familial adult myoclonic, 5
c.3013+19C>G Single submitter epilepsy, familial adult myoclonic, 5
c.3014-13G>C Single submitter epilepsy, familial adult myoclonic, 5
c.3014-15T>G Single submitter epilepsy, familial adult myoclonic, 5
c.3014-17G>A Single submitter epilepsy, familial adult myoclonic, 5
c.3014-20_3014-19del Single submitter epilepsy, familial adult myoclonic, 5
c.391+10G>A Single submitter epilepsy, familial adult myoclonic, 5
c.391+11C>T Single submitter epilepsy, familial adult myoclonic, 5
c.391+15G>C Single submitter epilepsy, familial adult myoclonic, 5
c.391+18C>T Single submitter epilepsy, familial adult myoclonic, 5
c.391+7C>G Single submitter epilepsy, familial adult myoclonic, 5
c.391+8C>G Single submitter epilepsy, familial adult myoclonic, 5
c.391+9C>T Single submitter epilepsy, familial adult myoclonic, 5
c.392-14G>T Single submitter epilepsy, familial adult myoclonic, 5
c.392-19C>T Single submitter epilepsy, familial adult myoclonic, 5
c.392-7C>T Single submitter epilepsy, familial adult myoclonic, 5
c.487+12C>G Single submitter epilepsy, familial adult myoclonic, 5
c.487+15G>A Single submitter epilepsy, familial adult myoclonic, 5
c.487+20C>A Single submitter epilepsy, familial adult myoclonic, 5
c.487+20C>T Single submitter epilepsy, familial adult myoclonic, 5
c.488-12C>T Single submitter epilepsy, familial adult myoclonic, 5
c.488-17A>C Single submitter epilepsy, familial adult myoclonic, 5
c.488-4C>T Single submitter epilepsy, familial adult myoclonic, 5
c.488-5C>T Single submitter epilepsy, familial adult myoclonic, 5
c.697+11G>A Single submitter epilepsy, familial adult myoclonic, 5
c.697+17C>T Single submitter epilepsy, familial adult myoclonic, 5
c.697+20G>A Single submitter epilepsy, familial adult myoclonic, 5
c.697+8_697+10dup Single submitter epilepsy, familial adult myoclonic, 5
c.698-12C>G Single submitter epilepsy, familial adult myoclonic, 5
c.698-13C>A Single submitter epilepsy, familial adult myoclonic, 5
c.698-13C>G Single submitter epilepsy, familial adult myoclonic, 5
c.698-13C>T Single submitter epilepsy, familial adult myoclonic, 5
c.698-14C>A Single submitter epilepsy, familial adult myoclonic, 5
c.698-14C>T Single submitter epilepsy, familial adult myoclonic, 5
c.698-20G>A Single submitter epilepsy, familial adult myoclonic, 5
c.70+16T>A Single submitter epilepsy, familial adult myoclonic, 5
c.70+8G>A Single submitter epilepsy, familial adult myoclonic, 5
c.71-19G>A Single submitter epilepsy, familial adult myoclonic, 5
c.71-19G>T Single submitter epilepsy, familial adult myoclonic, 5
c.71-6C>A Single submitter epilepsy, familial adult myoclonic, 5
c.71-6C>T Single submitter epilepsy, familial adult myoclonic, 5
c.71-7C>T Single submitter epilepsy, familial adult myoclonic, 5
c.797+14G>A Single submitter epilepsy, familial adult myoclonic, 5
c.797+15G>A Single submitter epilepsy, familial adult myoclonic, 5
c.797+18G>A Single submitter epilepsy, familial adult myoclonic, 5
c.797+19G>A Single submitter epilepsy, familial adult myoclonic, 5
c.797+7G>A Single submitter
c.798-6T>C Single submitter epilepsy, familial adult myoclonic, 5
c.798-8C>T Single submitter epilepsy, familial adult myoclonic, 5
c.973+13G>C Single submitter epilepsy, familial adult myoclonic, 5
c.974-12G>C Single submitter epilepsy, familial adult myoclonic, 5
c.974-13C>T Single submitter epilepsy, familial adult myoclonic, 5
c.974-18T>A Single submitter epilepsy, familial adult myoclonic, 5
c.974-4A>G Single submitter epilepsy, familial adult myoclonic, 5
c.974-9C>T Single submitter epilepsy, familial adult myoclonic, 5
p.Ala1014= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala1030= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala106= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala230= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala308= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala350= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala351= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala406= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala408= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala411= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala430= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala431= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala448= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala514= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala518= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala532= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala596= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala600= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala667= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala768= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala815= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala905= Single submitter epilepsy, familial adult myoclonic, 5
p.Ala996= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg123= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg345= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg355= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg372Trp Single submitter epilepsy, familial adult myoclonic, 5
p.Arg432= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg580Cys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg62= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg64= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg684= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg706Lys Single submitter
p.Arg779= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg850= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg850Cys Single submitter epilepsy, familial adult myoclonic, 5
p.Arg863= Single submitter epilepsy, familial adult myoclonic, 5
p.Arg87= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn1003= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn156= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn198= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn343= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn399= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn525= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn576= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn730= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn740= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn830= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn892= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn904= Single submitter epilepsy, familial adult myoclonic, 5
p.Asn953= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp141= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp180= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp233= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp277= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp300= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp379= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp41= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp524= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp539= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp547= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp742= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp839= Single submitter epilepsy, familial adult myoclonic, 5
p.Asp870Asn Single submitter epilepsy, familial adult myoclonic, 5
p.Cys111= Single submitter epilepsy, familial adult myoclonic, 5
p.Gln110= Single submitter epilepsy, familial adult myoclonic, 5
p.Gln255= Single submitter epilepsy, familial adult myoclonic, 5
p.Gln578= Single submitter epilepsy, familial adult myoclonic, 5
p.Gln655= Single submitter epilepsy, familial adult myoclonic, 5
p.Gln838= Single submitter epilepsy, familial adult myoclonic, 5
p.Glu248= Single submitter epilepsy, familial adult myoclonic, 5
p.Glu374= Single submitter
p.Glu828= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly1022= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly1036= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly150= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly181= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly203= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly254= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly36= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly391= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly433= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly434= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly582= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly620= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly721= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly725= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly795= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly895= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly895Ser Single submitter epilepsy, familial adult myoclonic, 5
p.Gly978= Single submitter epilepsy, familial adult myoclonic, 5
p.Gly993= Single submitter epilepsy, familial adult myoclonic, 5
p.His1027= Single submitter epilepsy, familial adult myoclonic, 5
p.His212= Single submitter epilepsy, familial adult myoclonic, 5
p.His401= Single submitter epilepsy, familial adult myoclonic, 5
p.His559= Single submitter epilepsy, familial adult myoclonic, 5
p.His979= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile1000= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile1033= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile436= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile502= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile551= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile624Met Single submitter epilepsy, familial adult myoclonic, 5
p.Ile638= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile663= Single submitter epilepsy, familial adult myoclonic, 5
p.Ile728= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu1032= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu1038= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu13= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu132= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu19= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu192= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu252= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu259= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu361= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu380= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu451= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu459= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu47= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu503= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu526= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu546= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu579= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu58= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu626= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu673= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu675= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu747= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu804= Single submitter epilepsy, familial adult myoclonic, 5
p.Leu928= Single submitter epilepsy, familial adult myoclonic, 5

Uncertain significance 361

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

c.2196+5G>A Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala230Val Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ala263Thr Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ala430Val Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ala596Val Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg1016His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg140Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg244Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg244Trp Multiple submitters epilepsy, familial adult myoclonic, 5
p.Arg274His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg320Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg345Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg345His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg432Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg480Trp Multiple submitters epilepsy, familial adult myoclonic, 5
p.Arg580His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg62His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg646Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg64Trp Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg657Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg736Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg794Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg850His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg87His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg893Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Arg893Trp Multiple submitters epilepsy, familial adult myoclonic, 5
p.Arg914Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asn343Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asn662Lys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asn904Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asp524Glu Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asp552Gly Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asp621Asn Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Asp976Asn Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gln283His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Glu172Lys Multiple submitters epilepsy, familial adult myoclonic, 5
p.Glu305Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Glu668Lys Multiple submitters epilepsy, familial adult myoclonic, 5
p.Glu79Lys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly130Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly278Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly433Arg Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly721Asp Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly743Ala Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly855Glu Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Gly877Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ile241Met Multiple submitters epilepsy, familial adult myoclonic, 5
p.Ile474Val Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ile569Thr Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Leu1032Val Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Leu11Val Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Lys102Thr Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Lys584Arg Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Lys702Glu Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Lys822Gln Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Met1013Thr Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Met734Thr Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Pro178Leu Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Pro439His Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ser1037Phe Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Ser311Pro Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Thr179Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Thr456Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Thr53Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Thr70Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Thr896Ser Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Trp731Cys Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Trp758Tyr Multiple submitters epilepsy, familial adult myoclonic, 5
p.Trp968Arg Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val220Ile Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val296Ile Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val317Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val449Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val565= Multiple submitters epilepsy, familial adult myoclonic, 5
p.Val57Met Multiple submitters epilepsy, familial adult myoclonic, 5
p.Val836Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
p.Val91Met Multiple submitters epilepsy, familial adult myoclonic, 5 ⚠
c.1391+5C>T Single submitter epilepsy, familial adult myoclonic, 5
c.1519+3G>C Single submitter epilepsy, familial adult myoclonic, 5
c.1519+5G>A Single submitter epilepsy, familial adult myoclonic, 5
c.1695+3G>A Single submitter epilepsy, familial adult myoclonic, 5
c.215+6G>A Single submitter epilepsy, familial adult myoclonic, 5
c.215+6G>C Single submitter epilepsy, familial adult myoclonic, 5
c.215+6G>T Single submitter epilepsy, familial adult myoclonic, 5
c.2431+4G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2431+5G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2544+3G>A Single submitter epilepsy, familial adult myoclonic, 5
c.2731+6T>A Single submitter epilepsy, familial adult myoclonic, 5
c.2845-3C>T Single submitter epilepsy, familial adult myoclonic, 5
c.3013+1G>A Single submitter epilepsy, familial adult myoclonic, 5
c.3013+4C>G Single submitter epilepsy, familial adult myoclonic, 5
c.3013+5T>A Single submitter epilepsy, familial adult myoclonic, 5
c.3013+6_3013+8del Single submitter epilepsy, familial adult myoclonic, 5
c.3013+6G>C Single submitter epilepsy, familial adult myoclonic, 5
c.973+5A>G Single submitter epilepsy, familial adult myoclonic, 5
c.974-12G>A Single submitter epilepsy, familial adult myoclonic, 5
p.Ala1018Thr Single submitter ⚠
p.Ala1030Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala103Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala106Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala113Pro Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala159Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala195Val Single submitter epilepsy, familial adult myoclonic, 5
p.Ala225Thr Single submitter ⚠
p.Ala247Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala287Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala308Val Single submitter epilepsy, familial adult myoclonic, 5
p.Ala377Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala408Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala414Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala416Thr Single submitter ⚠
p.Ala430Thr Single submitter epilepsy, familial adult myoclonic, 5
p.Ala431Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala431Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala444Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala448Ser Single submitter ⚠
p.Ala508Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala518Thr Single submitter ⚠
p.Ala600Thr Single submitter epilepsy, familial adult myoclonic, 5
p.Ala60Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala639Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala63Asp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala63Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala650Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala709Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala761Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala768Pro Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala859Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala890Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala899Asp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ala905Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg128Cys Single submitter ⚠
p.Arg128His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg167His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg182His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg196Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg270Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg270Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg274Cys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg320His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg355Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg355Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg359His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg372Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg381Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg381Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg426His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg432His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg432Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg443Trp Single submitter ⚠
p.Arg480Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg506Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg506Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg561Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg580Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg605Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg62Cys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg630Cys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg630His Single submitter ⚠
p.Arg630Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg646His Single submitter epilepsy, familial adult myoclonic, 5
p.Arg64Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg684Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg684Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg704Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg72Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg72Pro Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg762Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg779Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Arg789Cys Single submitter epilepsy, familial adult myoclonic, 5
p.Arg813Lys Single submitter ⚠
p.Arg874Gln Single submitter ⚠
p.Arg913Trp Single submitter ⚠
p.Arg985Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asn266His Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation; ⚠
p.Asn498Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asn659Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asn918Asp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp201Asn Single submitter ⚠
p.Asp507Asn Single submitter epilepsy, familial adult myoclonic, 5
p.Asp519Asn Single submitter epilepsy, familial adult myoclonic, 5
p.Asp548Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp633Asn Single submitter ⚠
p.Asp680Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp767Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp796Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp839Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Asp954Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Cys207Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln318His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln413Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln644Lys Single submitter ⚠
p.Gln655Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln655Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln837Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln838His Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gln838Pro Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu1039Asp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu139Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu288Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu305Asp Single submitter ⚠
p.Glu305Lys Single submitter
p.Glu398Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu409Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu409Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu682Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu707Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu726Asp Single submitter epilepsy, familial adult myoclonic, 5
p.Glu828Gly Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Glu975Lys Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly1004Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly181Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly391Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly433Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly434Arg Single submitter ⚠
p.Gly471Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly484Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly495Ser Single submitter ⚠
p.Gly501Arg Single submitter ⚠
p.Gly523Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly558Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly570Trp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly613Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly725Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly917Ala Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly92Arg Single submitter epilepsy, familial adult myoclonic, 5
p.Gly93Asp Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Gly978Ala Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His160Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His160Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His212Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His559Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His559Gln Single submitter ⚠
p.His581Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His885Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.His962Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile340Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile475Met Single submitter epilepsy, familial adult myoclonic, 5
p.Ile619Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile624Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile638Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile663Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile703Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ile969Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu259Val Single submitter ⚠
p.Leu29Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu380Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu410Pro Single submitter ⚠
p.Leu503Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu575Gln Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu579Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu717Phe Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Leu804Phe Single submitter ⚠
p.Lys218Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Lys223Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Lys312Glu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Lys331Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Lys640Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met1013Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met1031Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met392Val Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met494Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met538Thr Single submitter epilepsy, familial adult myoclonic, 5
p.Met80Ile Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Met98Arg Single submitter ⚠
p.Met98Val Single submitter ⚠
p.Phe264Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Phe549Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro100Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro1017Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro142Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro162Ser Single submitter ⚠
p.Pro246Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro282Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro423Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro429Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro439Ala Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro442Ala Single submitter epilepsy, familial adult myoclonic, 5
p.Pro442Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro469Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro556Ala Single submitter ⚠
p.Pro607Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro610Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro637Ser Single submitter epilepsy, familial adult myoclonic, 5
p.Pro648Ala Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro714Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro901Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro912Leu Single submitter epilepsy, familial adult myoclonic, 5
p.Pro989Leu Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Pro995Ser Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ser1026Phe Single submitter ⚠
p.Ser200Leu Single submitter ⚠
p.Ser21Phe Single submitter ⚠
p.Ser23= Single submitter epilepsy, familial adult myoclonic, 5
p.Ser279Pro Single submitter ⚠
p.Ser279Thr Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ser295Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ser383Pro Single submitter epilepsy, familial adult myoclonic, 5
p.Ser453Arg Single submitter epilepsy, familial adult myoclonic, 5 ⚠
p.Ser45Asn Single submitter epilepsy, familial adult myoclonic, 5 ⚠