EFHC1 — 438 ClinVar variants

All ClinVar germline EFHC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →

1 Pathogenic · 26 Conflicting · 29 Benign · 18 Benign/Likely benign · 98 Likely benign · 266 Uncertain significance

Full EFHC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 253

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 8

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

EFHC1 p.Arg353Gln Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Asn607Ser Conflicting Single submitter
Absence seizure
EFHC1 p.Glu604Asp Conflicting Single submitter
Absence seizure
EFHC1 p.Ile462Thr Conflicting Single submitter
Absence seizure
EFHC1 p.Phe229Leu Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr15Ala Conflicting Single submitter
EFHC1 p.Val183Ile Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Val556Ala Conflicting Single submitter
Absence seizure

Predictors lean, ClinVar uncertain 108

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

EFHC1 p.Ala529Glu Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ala83Val Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg151Leu Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg159Gln Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg285Lys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg366Cys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg436Cys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg457Leu Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Asn304Ser Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Asn55Lys Uncertain significance Multiple submitters
juvenile myoclonic epilepsy
EFHC1 p.Asp270Glu Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gln114Arg Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.His162Tyr Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ile248Val Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ile315Phe Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ile629Thr Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Lys306Glu Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Met621Ile Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Pro382Ser Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ser547Gly Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ser605Leu Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Thr23Ile Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr470Ser Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Tyr223Cys Uncertain significance Multiple submitters
EFHC1 p.Tyr422Phe Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Val184Phe Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Val192Ile Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Val273Leu Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Val425Gly Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ala326Asp Uncertain significance Single submitter
EFHC1 p.Ala394Thr Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ala520Thr Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ala521Gly Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ala540Thr Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ala542Val Uncertain significance Single submitter
EFHC1 p.Ala545Thr Uncertain significance Single submitter
EFHC1 p.Ala69Val Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg366His Uncertain significance Single submitter
EFHC1 p.Arg372Gln Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg41Gln Uncertain significance Single submitter
EFHC1 p.Arg41Gly Uncertain significance Single submitter
EFHC1 p.Arg42His Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg42Pro Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg436His Uncertain significance Single submitter
epilepsy, juvenile absence, susceptibility to, 1
EFHC1 p.Arg437Lys Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg51Gln Uncertain significance Single submitter
EFHC1 p.Arg536Gln Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg596Gly Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Asn293Lys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asn396Ser Uncertain significance Single submitter
EFHC1 p.Asn458Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asn481Lys Uncertain significance Single submitter
EFHC1 p.Asn630Asp Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Asp210Asn Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp253Asn Uncertain significance Single submitter
Typical absence seizure
EFHC1 p.Asp587His Uncertain significance Single submitter
EFHC1 p.Asp612His Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp93His Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gln318Lys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Gln76Arg Uncertain significance Single submitter
Absence seizure
EFHC1 p.Gln79His Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Glu195Gln Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Glu200Gln Uncertain significance Single submitter
juvenile myoclonic epilepsy
EFHC1 p.Glu200Lys Uncertain significance Single submitter
EFHC1 p.Glu200Val Uncertain significance Single submitter
EFHC1 p.Glu589Lys Uncertain significance Single submitter
EFHC1 p.Gly257Arg Uncertain significance Single submitter
EFHC1 p.Gly464Ala Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gly555Ser Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gly627Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.His624Arg Uncertain significance Single submitter
EFHC1 p.His7Asp Uncertain significance Single submitter
EFHC1 p.His7Gln Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ile176Val Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ile199Val Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ile401Val Uncertain significance Single submitter
EFHC1 p.Ile410Val Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ile451Asn Uncertain significance Single submitter
EFHC1 p.Ile47Val Uncertain significance Single submitter
EFHC1 p.Ile492Val Uncertain significance Single submitter
EFHC1 p.Ile629Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Leu335Val Uncertain significance Single submitter
EFHC1 p.Leu364Ile Uncertain significance Single submitter
EFHC1 p.Leu97Pro Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Lys358Thr Uncertain significance Single submitter
EFHC1 p.Lys588Arg Uncertain significance Single submitter
EFHC1 p.Met131Leu Uncertain significance Single submitter
EFHC1 p.Met516Ile Uncertain significance Single submitter
Absence seizure
EFHC1 p.Met516Leu Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Met621Val Uncertain significance Single submitter
EFHC1 p.Phe245Leu Uncertain significance Single submitter
EFHC1 p.Phe308Ile Uncertain significance Single submitter
EFHC1 p.Phe440Leu Uncertain significance Single submitter
EFHC1 p.Pro5Arg Uncertain significance Single submitter
EFHC1 p.Pro5Thr Uncertain significance Single submitter
EFHC1 p.Ser130Arg Uncertain significance Single submitter
EFHC1 p.Ser227Leu Uncertain significance Single submitter
EFHC1 p.Ser67Gly Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr190Ile Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr225Ser Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr252Arg Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr341Ser Uncertain significance Single submitter
EFHC1 p.Trp323Arg Uncertain significance Single submitter
EFHC1 p.Tyr466Asp Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr632Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Val312Leu Uncertain significance Single submitter
EFHC1 p.Val409Ile Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Val40Gly Uncertain significance Single submitter

Predictors split 137

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

EFHC1 p.Ala445Thr Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ala590Pro Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ala88Val Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg118Cys Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg151Cys Likely benign Multiple submitters
Absence seizure
EFHC1 p.Arg159Gly Benign/Likely benign Multiple submitters
Absence seizure
EFHC1 p.Arg159Trp Benign/Likely benign Multiple submitters
Absence seizure
EFHC1 p.Arg182His Benign/Likely benign Multiple submitters
Absence seizure
EFHC1 p.Arg216Gln Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg221His Benign/Likely benign Multiple submitters
Absence seizure
EFHC1 p.Arg260Trp Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg281Trp Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg294Cys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg294His Benign Multiple submitters
Absence seizure
EFHC1 p.Arg296Cys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg296His Benign Multiple submitters
Absence seizure
EFHC1 p.Arg421His Uncertain significance Multiple submitters
EFHC1 p.Arg42Cys Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg437Gly Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Arg457Cys Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg636His Uncertain significance Multiple submitters
EFHC1 p.Asp187Asn Uncertain significance Multiple submitters
Typical absence seizure
EFHC1 p.Asp408Val Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gln522Arg Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Glu357Lys Benign/Likely benign Multiple submitters
Absence seizure
EFHC1 p.Glu427Gly Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Gly49Arg Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.His89Arg Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Ile117Thr Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ile47Lys Uncertain significance Multiple submitters
EFHC1 p.Met516Thr Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Pro487Ser Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Thr252Ala Uncertain significance Multiple submitters
EFHC1 p.Thr272Met Uncertain significance Multiple submitters
Typical absence seizure
EFHC1 p.Tyr115Cys Uncertain significance Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Tyr33His Likely benign Multiple submitters
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Tyr384Cys Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Tyr631Cys Uncertain significance Multiple submitters
juvenile myoclonic epilepsy
EFHC1 p.Val556Met Uncertain significance Multiple submitters
Absence seizure
EFHC1 p.Ala424Ser Uncertain significance Single submitter
EFHC1 p.Ala424Thr Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ala529Thr Uncertain significance Single submitter
EFHC1 p.Ala66Pro Uncertain significance Single submitter
EFHC1 p.Ala91Val Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg151His Uncertain significance Single submitter
EFHC1 p.Arg153Gln Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg153Trp Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg182Cys Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg221Cys Conflicting Single submitter
Absence seizure
EFHC1 p.Arg244Gln Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg260Gln Conflicting Single submitter
Absence seizure
EFHC1 p.Arg276Gln Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg276Gly Uncertain significance Single submitter
EFHC1 p.Arg352Gln Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg353Trp Conflicting Single submitter
Seizure
EFHC1 p.Arg372Trp Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg421Cys Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg457His Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg51Trp Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg536Gly Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Arg536Pro Uncertain significance Single submitter
Absence seizure
EFHC1 p.Arg580His Uncertain significance Single submitter
EFHC1 p.Arg580Pro Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Asn35Ser Uncertain significance Single submitter
EFHC1 p.Asp228Tyr Uncertain significance Single submitter
EFHC1 p.Asp250Val Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp283Asn Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp363Gly Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp447Asn Uncertain significance Single submitter
EFHC1 p.Asp612Ala Uncertain significance Single submitter
Absence seizure
EFHC1 p.Asp63Asn Uncertain significance Single submitter
Absence seizure
EFHC1 p.Cys603Phe Uncertain significance Single submitter
EFHC1 p.Gln231His Uncertain significance Single submitter
Absence seizure
EFHC1 p.Glu127Gln Uncertain significance Single submitter
Absence seizure
EFHC1 p.Glu391Gly Uncertain significance Single submitter
EFHC1 p.Gly14Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Gly339Glu Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Gly8Arg Conflicting Single submitter
Absence seizure
EFHC1 p.His164Tyr Uncertain significance Single submitter
Absence seizure
EFHC1 p.His26Pro Uncertain significance Single submitter
EFHC1 p.His26Tyr Uncertain significance Single submitter
Absence seizure
EFHC1 p.His279Arg Uncertain significance Single submitter
EFHC1 p.Ile143Val Uncertain significance Single submitter
EFHC1 p.Ile361Val Uncertain significance Single submitter
EFHC1 p.Ile602Thr Uncertain significance Single submitter
EFHC1 p.Ile619Ser Conflicting Single submitter
Absence seizure
EFHC1 p.Leu232Phe Uncertain significance Single submitter
EFHC1 p.Leu335Arg Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Leu400Phe Uncertain significance Single submitter
EFHC1 p.Leu62Val Uncertain significance Single submitter
EFHC1 p.Leu65Ser Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Lys299Arg Uncertain significance Single submitter
Absence seizure
EFHC1 p.Lys434Glu Uncertain significance Single submitter
Absence seizure
EFHC1 p.Lys68Glu Uncertain significance Single submitter
EFHC1 p.Met109Val Uncertain significance Single submitter
EFHC1 p.Phe25Leu Uncertain significance Single submitter
EFHC1 p.Phe452Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Pro10Ala Uncertain significance Single submitter
Absence seizure
EFHC1 p.Pro13Ser Uncertain significance Single submitter
EFHC1 p.Pro219Ala Uncertain significance Single submitter
EFHC1 p.Pro375Ser Uncertain significance Single submitter
EFHC1 p.Pro383Ser Uncertain significance Single submitter
Typical absence seizure
EFHC1 p.Pro429Leu Uncertain significance Single submitter
juvenile myoclonic epilepsy
EFHC1 p.Pro455Arg Uncertain significance Single submitter
EFHC1 p.Pro455Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Pro482Ala Uncertain significance Single submitter
EFHC1 p.Pro525Ala Uncertain significance Single submitter
EFHC1 p.Pro525Leu Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Pro541Arg Likely benign Single submitter
Absence seizure
EFHC1 p.Pro81Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ser130Gly Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ser20Phe Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ser254Asn Uncertain significance Single submitter
Absence seizure
EFHC1 p.Ser28Arg Uncertain significance Single submitter
EFHC1 p.Ser28Asn Uncertain significance Single submitter
EFHC1 p.Ser316Ala Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr213Ala Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr213Ser Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr237Asn Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr261Ile Uncertain significance Single submitter
EFHC1 p.Thr30Met Conflicting Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Thr341Ala Uncertain significance Single submitter
EFHC1 p.Thr446Ile Uncertain significance Single submitter
Absence seizure
EFHC1 p.Thr508Arg Likely benign Single submitter
Absence seizure
EFHC1 p.Tyr102Cys Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Tyr124Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr177Phe Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Tyr266Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr267Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr33Cys Uncertain significance Single submitter
EFHC1 p.Tyr354Cys Uncertain significance Single submitter
myoclonic epilepsy, juvenile, susceptibility to, 1
EFHC1 p.Tyr37Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr484Cys Uncertain significance Single submitter
Absence seizure
EFHC1 p.Tyr485Cys Uncertain significance Single submitter
EFHC1 p.Val45Ala Uncertain significance Single submitter
Typical absence seizure
EFHC1 p.Val594Met Uncertain significance Single submitter
EFHC1 p.Val6Met Uncertain significance Single submitter
Absence seizure

All EFHC1 variants

Pathogenic 1

p.Phe438fs Single submitter

Conflicting classifications of pathogenicity 26

c.1640+19G>C Single submitter Absence seizure
c.1852-6C>G Single submitter Absence seizure
p.Ala529= Single submitter Absence seizure
p.Arg182Cys Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg221Cys Single submitter Absence seizure ⚠
p.Arg244Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg260Gln Single submitter Absence seizure ⚠
p.Arg353Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg353Trp Single submitter Seizure ⚠
p.Arg372Trp Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg51Trp Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg538Ter Single submitter juvenile myoclonic epilepsy
p.Asn607Ser Single submitter Absence seizure ⚠
p.Gln188= Single submitter Absence seizure
p.Glu604Asp Single submitter Absence seizure ⚠
p.Gly8Arg Single submitter Absence seizure ⚠
p.Ile462Thr Single submitter Absence seizure ⚠
p.Ile619Ser Single submitter Absence seizure ⚠
p.Leu559= Single submitter Absence seizure
p.Phe229Leu Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Pro5= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Thr15Ala Single submitter ⚠
p.Thr30= Single submitter Absence seizure
p.Thr30Met Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val183Ile Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val556Ala Single submitter Absence seizure ⚠

Benign 29

c.723+106C>T Multiple submitters Absence seizure
p.Arg294His Multiple submitters Absence seizure ⚠
p.Arg296His Multiple submitters Absence seizure ⚠
p.Asn607= Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1
p.Asp408= Multiple submitters Absence seizure
p.Pro70= Multiple submitters Absence seizure
c.1138-293del Single submitter
c.1278+100T>C Single submitter
c.1492+175_1492+176del Single submitter
c.1640+77A>C Single submitter
c.1851+226A>G Single submitter
c.1851+279C>T Single submitter
c.1851+58T>C Single submitter
c.286-180T>A Single submitter
c.286-54G>T Single submitter
c.63+123G>C Single submitter
c.64-158G>C Single submitter
c.64-262del Single submitter
c.723+66del Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.916+166C>T Single submitter
c.917-118G>T Single submitter
c.917-183G>A Single submitter
c.*1023A>C Single submitter
c.*1025A>C Single submitter
c.*1027A>C Single submitter
c.*1044_*1045insA Single submitter
c.*1045_*1046insATATATATATATA Single submitter
c.*1180G>A Single submitter
c.*121C>A Single submitter

Benign/Likely benign 18

c.573+10A>G Multiple submitters Absence seizure
c.64-5T>C Multiple submitters Absence seizure
c.*871C>G Multiple submitters
c.*881A>T Multiple submitters
p.Arg159Gly Multiple submitters Absence seizure ⚠
p.Arg159Trp Multiple submitters Absence seizure ⚠
p.Arg182His Multiple submitters Absence seizure ⚠
p.Arg221His Multiple submitters Absence seizure ⚠
p.Asn385= Multiple submitters Absence seizure
p.Asn519= Multiple submitters Absence seizure
p.Asp210Val Multiple submitters Absence seizure
p.Glu357Lys Multiple submitters Absence seizure ⚠
p.Ile619Leu Multiple submitters Absence seizure
p.Leu9= Multiple submitters Absence seizure
p.Met448Thr Multiple submitters Absence seizure
p.Pro77Thr Multiple submitters Absence seizure
p.Thr446= Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1
p.Tyr631= Multiple submitters Absence seizure

Likely benign 98

c.1137+31G>T Multiple submitters
c.1279-57G>T Multiple submitters
c.1493-34C>T Multiple submitters
c.917-72G>A Multiple submitters
p.Ala83= Multiple submitters Absence seizure
p.Arg151Cys Multiple submitters Absence seizure ⚠
p.Arg353= Multiple submitters Absence seizure
p.Leu528= Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1
p.Tyr33His Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
c.1138-10G>A Single submitter Typical absence seizure
c.1138-4C>G Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.1138-6C>T Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.1278+10A>G Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.1278+15T>C Single submitter
c.1279-4G>C Single submitter Absence seizure
c.1279-8C>G Single submitter Absence seizure
c.1279-9C>T Single submitter Absence seizure
c.1641-6C>G Single submitter Absence seizure
c.1641-8C>A Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.1841_1851+13del Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.1851+8T>A Single submitter Absence seizure
c.1852-48G>T Single submitter
c.573+5A>G Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.63+12T>C Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.723+10A>G Single submitter Absence seizure
c.917-6T>C Single submitter Absence seizure
c.917-7A>C Single submitter Absence seizure
c.917-7A>G Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.-13G>A Single submitter
c.*1025AT[17] Single submitter
c.*1025AT[18] Single submitter
c.*1025AT[24] Single submitter
c.*140C>T Single submitter
c.*1490C>A Single submitter
c.*2164G>A Single submitter
c.*2419A>G Single submitter
c.*25A>T Single submitter
c.*2972C>G Single submitter
c.*3144T>A Single submitter
c.*3192G>A Single submitter
c.*3406T>C Single submitter
c.*392A>C Single submitter
p.Ala445= Single submitter Absence seizure
p.Ala520= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ala521= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ala540= Single submitter Absence seizure
p.Ala542= Single submitter Absence seizure
p.Ala582= Single submitter Absence seizure
p.Arg182= Single submitter Absence seizure
p.Asn304= Single submitter Absence seizure
p.Asn35= Single submitter Absence seizure
p.Asp368= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Asp509= Single submitter Absence seizure
p.Asp612= Single submitter Absence seizure
p.Cys622= Single submitter Absence seizure
p.Gln234= Single submitter Absence seizure
p.Glu112= Single submitter Absence seizure
p.Glu113= Single submitter Absence seizure
p.Glu280= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Glu280Lys Single submitter Absence seizure
p.Glu589= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Gly339= Single submitter Absence seizure
p.Gly463= Single submitter Absence seizure
p.Gly48= Single submitter Absence seizure
p.Gly555= Single submitter Absence seizure
p.His534= Single submitter Absence seizure
p.Ile176= Single submitter Absence seizure
p.Ile263= Single submitter Absence seizure
p.Leu126= Single submitter Absence seizure
p.Leu168= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Leu209= Single submitter
p.Leu291= Single submitter
p.Leu321= Single submitter Absence seizure
p.Lys18Asn Single submitter Absence seizure
p.Lys206= Single submitter Absence seizure
p.Phe398= Single submitter
p.Phe54Leu Single submitter Absence seizure
p.Pro226= Single submitter Absence seizure
p.Pro349= Single submitter Absence seizure
p.Pro431= Single submitter Absence seizure
p.Pro541Arg Single submitter Absence seizure ⚠
p.Pro543= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Pro609= Single submitter Absence seizure
p.Ser227= Single submitter Absence seizure
p.Ser254= Single submitter Absence seizure
p.Ser605= Single submitter Absence seizure
p.Thr111= Single submitter Absence seizure
p.Thr213= Single submitter Absence seizure
p.Thr23= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Thr272= Single submitter Absence seizure
p.Thr508Arg Single submitter Absence seizure ⚠
p.Tyr586= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Val224= Single submitter Absence seizure
p.Val273= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Val483= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Val498= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Val512= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Val96= Single submitter Absence seizure

Uncertain significance 266

p.Ala445Thr Multiple submitters Absence seizure ⚠
p.Ala529Glu Multiple submitters Absence seizure ⚠
p.Ala590Pro Multiple submitters Absence seizure ⚠
p.Ala83Val Multiple submitters Absence seizure ⚠
p.Ala88Val Multiple submitters Absence seizure ⚠
p.Arg118Cys Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg151Leu Multiple submitters Absence seizure ⚠
p.Arg159Gln Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg216Gln Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg244Ter Multiple submitters Absence seizure
p.Arg260Trp Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg281Trp Multiple submitters Absence seizure ⚠
p.Arg285Lys Multiple submitters Absence seizure ⚠
p.Arg294Cys Multiple submitters Absence seizure ⚠
p.Arg296Cys Multiple submitters Absence seizure ⚠
p.Arg366Cys Multiple submitters Absence seizure ⚠
p.Arg421His Multiple submitters ⚠
p.Arg42Cys Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg436Cys Multiple submitters Absence seizure ⚠
p.Arg437Gly Multiple submitters Absence seizure ⚠
p.Arg457Cys Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg457Leu Multiple submitters Absence seizure ⚠
p.Arg636His Multiple submitters ⚠
p.Asn304Ser Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Asn55Lys Multiple submitters juvenile myoclonic epilepsy ⚠
p.Asp187Asn Multiple submitters Typical absence seizure ⚠
p.Asp228fs Multiple submitters Absence seizure
p.Asp270Glu Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Asp408Val Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Gln114Arg Multiple submitters Absence seizure ⚠
p.Gln395fs Multiple submitters Absence seizure
p.Gln522Arg Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Glu427Gly Multiple submitters Absence seizure ⚠
p.Gly49Arg Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.His162Tyr Multiple submitters Absence seizure ⚠
p.His89Arg Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Ile117Thr Multiple submitters Absence seizure ⚠
p.Ile248Val Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Ile315Phe Multiple submitters Absence seizure ⚠
p.Ile367fs Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ile430fs Multiple submitters Typical absence seizure
p.Ile47Lys Multiple submitters ⚠
p.Ile629Thr Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Lys22= Multiple submitters Absence seizure
p.Lys306Glu Multiple submitters Absence seizure ⚠
p.Met1Val Multiple submitters Absence seizure
p.Met516Thr Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Met621Ile Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Pro382Ser Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Pro487Ser Multiple submitters Absence seizure ⚠
p.Ser547Gly Multiple submitters Absence seizure ⚠
p.Ser605Leu Multiple submitters Absence seizure ⚠
p.Thr23Ile Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Thr252Ala Multiple submitters ⚠
p.Thr272Met Multiple submitters Typical absence seizure ⚠
p.Thr470Ser Multiple submitters Absence seizure ⚠
p.Tyr115Cys Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Tyr223Cys Multiple submitters ⚠
p.Tyr384Cys Multiple submitters Absence seizure ⚠
p.Tyr422Phe Multiple submitters Absence seizure ⚠
p.Tyr631Cys Multiple submitters juvenile myoclonic epilepsy ⚠
p.Val184Phe Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val192Ile Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val273Leu Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val425Gly Multiple submitters myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val556Met Multiple submitters Absence seizure ⚠
c.1492+1G>A Single submitter Absence seizure
c.1640+3G>T Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
c.286-1G>A Single submitter Typical absence seizure
c.63+2T>C Single submitter
c.724-14T>A Single submitter
c.917-16C>T Single submitter
c.*1025AT[13] Single submitter
c.*1025AT[19] Single submitter
c.*896C>T Single submitter
p.Ala305= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ala326Asp Single submitter ⚠
p.Ala394Thr Single submitter Absence seizure ⚠
p.Ala424Ser Single submitter ⚠
p.Ala424Thr Single submitter Absence seizure ⚠
p.Ala520Thr Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Ala521Gly Single submitter Absence seizure ⚠
p.Ala529Thr Single submitter ⚠
p.Ala540Thr Single submitter Absence seizure ⚠
p.Ala542Val Single submitter ⚠
p.Ala545Thr Single submitter ⚠
p.Ala66Pro Single submitter ⚠
p.Ala69Val Single submitter Absence seizure ⚠
p.Ala91Val Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg151His Single submitter ⚠
p.Arg153Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg153Trp Single submitter Absence seizure ⚠
p.Arg216Ter Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Arg276Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg276Gly Single submitter ⚠
p.Arg352Gln Single submitter Absence seizure ⚠
p.Arg352Ter Single submitter Absence seizure
p.Arg366His Single submitter ⚠
p.Arg372Gln Single submitter Absence seizure ⚠
p.Arg41Gln Single submitter ⚠
p.Arg41Gly Single submitter ⚠
p.Arg421Cys Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg42His Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg42Pro Single submitter Absence seizure ⚠
p.Arg436His Single submitter epilepsy, juvenile absence, susceptibility to, 1 ⚠
p.Arg437Lys Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg437Ter Single submitter Absence seizure
p.Arg457His Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg51Gln Single submitter ⚠
p.Arg536Gln Single submitter Absence seizure ⚠
p.Arg536Gly Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg536Pro Single submitter Absence seizure ⚠
p.Arg536Ter Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Arg580His Single submitter ⚠
p.Arg580Pro Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Arg596Gly Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Asn293Lys Single submitter Absence seizure ⚠
p.Asn35Ser Single submitter ⚠
p.Asn396Ser Single submitter ⚠
p.Asn458Ser Single submitter Absence seizure ⚠
p.Asn481Lys Single submitter ⚠
p.Asn630Asp Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Asp167fs Single submitter
p.Asp210Asn Single submitter Absence seizure ⚠
p.Asp228Tyr Single submitter ⚠
p.Asp250Val Single submitter Absence seizure ⚠
p.Asp253Asn Single submitter Typical absence seizure ⚠
p.Asp283Asn Single submitter Absence seizure ⚠
p.Asp363Gly Single submitter Absence seizure ⚠
p.Asp408fs Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Asp447Asn Single submitter ⚠
p.Asp587His Single submitter ⚠
p.Asp612Ala Single submitter Absence seizure ⚠
p.Asp612His Single submitter Absence seizure ⚠
p.Asp63Asn Single submitter Absence seizure ⚠
p.Asp93His Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Cys186_Asp187delinsTer Single submitter Absence seizure
p.Cys603Phe Single submitter ⚠
p.Gln218Ter Single submitter Absence seizure
p.Gln231His Single submitter Absence seizure ⚠
p.Gln241= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Gln318Lys Single submitter Absence seizure ⚠
p.Gln567Ter Single submitter Typical absence seizure
p.Gln76Arg Single submitter Absence seizure ⚠
p.Gln76Ter Single submitter Typical absence seizure
p.Gln79His Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Glu127Gln Single submitter Absence seizure ⚠
p.Glu195Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Glu200Gln Single submitter juvenile myoclonic epilepsy ⚠
p.Glu200Lys Single submitter ⚠
p.Glu200Val Single submitter ⚠
p.Glu373Ter Single submitter Absence seizure
p.Glu391fs Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Glu391Gly Single submitter ⚠
p.Glu517_Ala520delinsPheTer Single submitter Typical absence seizure
p.Glu517Ter Single submitter Typical absence seizure
p.Glu589Lys Single submitter ⚠
p.Gly14Ser Single submitter Absence seizure ⚠
p.Gly257Arg Single submitter ⚠
p.Gly339Glu Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Gly464Ala Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Gly555Ser Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Gly592= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Gly627Ser Single submitter Absence seizure ⚠
p.His164Tyr Single submitter Absence seizure ⚠
p.His26Pro Single submitter ⚠
p.His26Tyr Single submitter Absence seizure ⚠
p.His279Arg Single submitter ⚠
p.His624Arg Single submitter ⚠
p.His7Asp Single submitter ⚠
p.His7Gln Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Ile122_Tyr123del Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ile143Val Single submitter ⚠
p.Ile176Val Single submitter Absence seizure ⚠
p.Ile199Val Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Ile361Val Single submitter ⚠
p.Ile401Val Single submitter ⚠
p.Ile410Val Single submitter Absence seizure ⚠
p.Ile451Asn Single submitter ⚠
p.Ile47Val Single submitter ⚠
p.Ile492Val Single submitter ⚠
p.Ile602Thr Single submitter ⚠
p.Ile629Ser Single submitter Absence seizure ⚠
p.Leu201Ter Single submitter Absence seizure
p.Leu232Phe Single submitter ⚠
p.Leu335Arg Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Leu335Val Single submitter ⚠
p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer Single submitter Absence seizure
p.Leu364Ile Single submitter ⚠
p.Leu400Phe Single submitter ⚠
p.Leu62Val Single submitter ⚠
p.Leu65Ser Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Leu97Pro Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Lys222Ter Single submitter Absence seizure
p.Lys299Arg Single submitter Absence seizure ⚠
p.Lys358Thr Single submitter ⚠
p.Lys434Glu Single submitter Absence seizure ⚠
p.Lys588Arg Single submitter ⚠
p.Lys68Glu Single submitter ⚠
p.Met109Val Single submitter ⚠
p.Met131Leu Single submitter ⚠
p.Met516Ile Single submitter Absence seizure ⚠
p.Met516Leu Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Met621Val Single submitter ⚠
p.Phe245Leu Single submitter ⚠
p.Phe25Leu Single submitter ⚠
p.Phe308Ile Single submitter ⚠
p.Phe440Leu Single submitter ⚠
p.Phe452Ser Single submitter Absence seizure ⚠
p.Pro10Ala Single submitter Absence seizure ⚠
p.Pro13Ser Single submitter ⚠
p.Pro219Ala Single submitter ⚠
p.Pro375Ser Single submitter ⚠
p.Pro383Ser Single submitter Typical absence seizure ⚠
p.Pro429Leu Single submitter juvenile myoclonic epilepsy ⚠
p.Pro455Arg Single submitter ⚠
p.Pro455Ser Single submitter Absence seizure ⚠
p.Pro482Ala Single submitter ⚠
p.Pro525Ala Single submitter ⚠
p.Pro525Leu Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Pro5Arg Single submitter ⚠
p.Pro5Thr Single submitter ⚠
p.Pro81Ser Single submitter Absence seizure ⚠
p.Ser130Arg Single submitter ⚠
p.Ser130Gly Single submitter Absence seizure ⚠
p.Ser20Phe Single submitter Absence seizure ⚠
p.Ser227Leu Single submitter ⚠
p.Ser254Asn Single submitter Absence seizure ⚠
p.Ser28Arg Single submitter ⚠
p.Ser28Asn Single submitter ⚠
p.Ser316Ala Single submitter Absence seizure ⚠
p.Ser370= Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Ser67Gly Single submitter Absence seizure ⚠
p.Thr190Ile Single submitter Absence seizure ⚠
p.Thr213Ala Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Thr213Ser Single submitter Absence seizure ⚠
p.Thr225Ser Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Thr237Asn Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Thr252Arg Single submitter Absence seizure ⚠
p.Thr261Ile Single submitter ⚠
p.Thr341Ala Single submitter ⚠
p.Thr341Ser Single submitter ⚠
p.Thr446Ile Single submitter Absence seizure ⚠
p.Thr478fs Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1
p.Trp323Arg Single submitter ⚠
p.Tyr102Cys Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Tyr124Cys Single submitter Absence seizure ⚠
p.Tyr177Phe Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Tyr223_Thr225delinsSer Single submitter Typical absence seizure
p.Tyr266Cys Single submitter Absence seizure ⚠
p.Tyr267Cys Single submitter Absence seizure ⚠
p.Tyr33Cys Single submitter ⚠
p.Tyr354Cys Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Tyr37Cys Single submitter Absence seizure ⚠
p.Tyr466Asp Single submitter Absence seizure ⚠
p.Tyr484Cys Single submitter Absence seizure ⚠
p.Tyr485Cys Single submitter ⚠
p.Tyr632Cys Single submitter Absence seizure ⚠
p.Val312Leu Single submitter ⚠
p.Val409Ile Single submitter myoclonic epilepsy, juvenile, susceptibility to, 1 ⚠
p.Val40Gly Single submitter ⚠
p.Val45Ala Single submitter Typical absence seizure ⚠
p.Val594Met Single submitter ⚠
p.Val6Met Single submitter Absence seizure ⚠
c.917-1G>C No assertion criteria EFHC1-related disorder
p.Pro455= No assertion criteria juvenile myoclonic epilepsy