CHRNB2 — 649 ClinVar variants

All ClinVar germline CHRNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 28 Conflicting · 16 Benign · 15 Benign/Likely benign · 216 Likely benign · 368 Uncertain significance

Full CHRNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 332

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CHRNB2 p.Val337Gly Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 16

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

CHRNB2 p.Ala394Thr Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg106Trp Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg460Cys Conflicting Single submitter
Inborn genetic diseases
CHRNB2 p.Arg47Cys Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp385Asn Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln397His Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu214Lys Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu418Gly Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly372Asp Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly372Ser Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly417Arg Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.His323Arg Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile458Val Conflicting Single submitter
Inborn genetic diseases
CHRNB2 p.Met349Thr Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr328Met Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val391Leu Conflicting Single submitter
familial sleep-related hypermotor epilepsy

Predictors lean, ClinVar uncertain 199

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 199

CHRNB2 p.Ala135Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala154Thr Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala207Gly Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala252Thr Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala2Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Ala357Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala394Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala400Asp Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala411Pro Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala455Thr Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg106Gln Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg212Cys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg232Cys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg232His Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg368Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg460His Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg47His Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg73Trp Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn101Asp Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn392Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Asp217Asn Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp459Asn Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Cys269Arg Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Cys5Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln445Glu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu441Asp Uncertain significance Multiple submitters
CHRNB2 p.Glu74Asp Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly125Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly298Asp Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly298Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly298Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly414Arg Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly417Glu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly473Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly52Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile434Met Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Ile475Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile475Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu282Phe Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu36Phe Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu376Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu461Pro Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Lys265Met Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met266Thr Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met438Ile Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe162Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Pro409Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser200Asn Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser440Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Ser440Asn Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser494Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr225Arg Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr28Ala Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr50Ile Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr93Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Trp451Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Val313Ala Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val321Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val431Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala123Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala123Val Uncertain significance Single submitter
CHRNB2 p.Ala275Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala345Thr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala345Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala381Val Uncertain significance Single submitter
CHRNB2 p.Ala384Thr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala455Ser Uncertain significance Single submitter
CHRNB2 p.Ala455Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala498Asp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg180Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg18Trp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg324Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg365Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg379Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg393Cys Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Arg3Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Arg415Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg432Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg4Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg91Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg91Gly Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn320Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn485Asp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp116His Uncertain significance Single submitter
CHRNB2 p.Asp179Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp179Gly Uncertain significance Single submitter
CHRNB2 p.Asp179His Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Asp217Glu Uncertain significance Single submitter
CHRNB2 p.Asp218Ala Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp227Glu Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Asp442Asn Uncertain significance Single submitter
CHRNB2 p.Asp459Glu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp459Tyr Uncertain significance Single submitter
CHRNB2 p.Cys262Tyr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Cys269Tyr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Cys5Gly Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln350Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln367Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln397Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln397Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln445His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln484Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln75Pro Uncertain significance Single submitter
CHRNB2 p.Glu182Asp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu202Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu214Gln Uncertain significance Single submitter
CHRNB2 p.Glu264Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu380Asp Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Glu88Gln Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Glu88Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly125Cys Uncertain significance Single submitter
CHRNB2 p.Gly141Asp Uncertain significance Single submitter
CHRNB2 p.Gly263Asp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly401Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly404Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly430Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly6Cys Uncertain significance Single submitter
CHRNB2 p.His161Tyr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.His354Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.His496Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile157Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile183Phe Uncertain significance Single submitter
CHRNB2 p.Ile283Asn Uncertain significance Single submitter
autosomal dominant nocturnal frontal lobe epilepsy 3
CHRNB2 p.Ile283Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile283Thr Uncertain significance Single submitter
CHRNB2 p.Ile434Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile475Thr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Leu185Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu247Phe Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Leu247Pro Uncertain significance Single submitter
CHRNB2 p.Leu274Gln Uncertain significance Single submitter
autosomal dominant nocturnal frontal lobe epilepsy 3
CHRNB2 p.Leu319Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu347His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu347Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu361Gln Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Leu92Phe Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Lys502Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met102Ile Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met102Leu Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Met126Ile Uncertain significance Single submitter
autosomal dominant nocturnal frontal lobe epilepsy 3
CHRNB2 p.Met349Lys Uncertain significance Single submitter
CHRNB2 p.Met456Ile Uncertain significance Single submitter
CHRNB2 p.Met477Thr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe14Cys Uncertain significance Single submitter
CHRNB2 p.Phe228Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe310Tyr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe339Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe378Ser Uncertain significance Single submitter
CHRNB2 p.Phe390Ile Uncertain significance Single submitter
CHRNB2 p.Phe390Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy

Predictors split 116

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

CHRNB2 p.Ala373Thr Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg231Cys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg31Gln Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg358His Likely benign Multiple submitters
Inborn genetic diseases
CHRNB2 p.Arg370His Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg3Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Arg41Cys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg432Cys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn134Lys Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly22Glu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly412Asp Benign/Likely benign Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly430Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Gly476Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.His35Gln Likely benign Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu307Ile Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu361Pro Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Lys172Arg Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met438Val Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe390Leu Uncertain significance Multiple submitters
CHRNB2 p.Pro216Ser Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Pro419Gln Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser325Leu Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser500Asn Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr220Met Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr220Pro Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr26Met Benign/Likely benign Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr304Ala Uncertain significance Multiple submitters
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr57Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Val335Met Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Val428Met Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Val454Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB2 p.Ala207Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala373Ser Uncertain significance Single submitter
CHRNB2 p.Ala375Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ala402Thr Conflicting Single submitter
Inborn genetic diseases
CHRNB2 p.Ala411Glu Uncertain significance Single submitter
CHRNB2 p.Ala427Val Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Ala49Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg180Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg180His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg211Gln Uncertain significance Single submitter
CHRNB2 p.Arg212His Uncertain significance Single submitter
autosomal dominant nocturnal frontal lobe epilepsy 3
CHRNB2 p.Arg31Trp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg353His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg358Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg358Pro Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg360Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg362Cys Conflicting Single submitter
Inborn genetic diseases
CHRNB2 p.Arg366Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg368Gly Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg415His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg41His Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg425Trp Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg432His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg432Leu Uncertain significance Single submitter
CHRNB2 p.Arg439Gln Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg439Trp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg73Gln Uncertain significance Single submitter
CHRNB2 p.Asn101His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn134Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asn51Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp184Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp218Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp27Tyr Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp293Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Asp429Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Cys20Arg Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gln75Glu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu30Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu371Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Glu418Lys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly15Asp Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly383Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Gly401Trp Uncertain significance Single submitter
CHRNB2 p.Gly412Arg Uncertain significance Single submitter
CHRNB2 p.His71Arg Uncertain significance Single submitter
CHRNB2 p.Ile112Val Uncertain significance Single submitter
CHRNB2 p.Ile150Val Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ile183Met Uncertain significance Single submitter
CHRNB2 p.Ile205Val Likely benign Single submitter
CHRNB2 p.Ile229Met Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu11Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu12Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu17His Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu17Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu376Phe Conflicting Single submitter
Inborn genetic diseases
CHRNB2 p.Leu424Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu461Phe Likely benign Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Leu461Val Uncertain significance Single submitter
CHRNB2 p.Leu492Phe Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Lys110Thr Conflicting Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Lys156Asn Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Lys156Glu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Met266Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Phe472Ser Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Pro216Thr Uncertain significance Single submitter
CHRNB2 p.Ser193Ile Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser250Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser386Cys Likely benign Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Ser446Gly Uncertain significance Single submitter
CHRNB2 p.Thr198Ala Uncertain significance Single submitter
CHRNB2 p.Thr198Ile Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Thr220Ala Uncertain significance Single submitter
CHRNB2 p.Thr488Ile Uncertain significance Single submitter
CHRNB2 p.Tyr132His Uncertain significance Single submitter
CHRNB2 p.Tyr139Cys Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val136Met Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val206Met Uncertain significance Single submitter
Inborn genetic diseases
CHRNB2 p.Val222Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val222Met Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val313Ile Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val337Phe Uncertain significance Single submitter
CHRNB2 p.Val467Ala Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val56Leu Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Val62Met Uncertain significance Single submitter
familial sleep-related hypermotor epilepsy
CHRNB2 p.Arg180Leu Uncertain significance No assertion criteria
CHRNB2-related disorder

All CHRNB2 variants

Pathogenic 1

p.Val287Met Multiple submitters Inborn genetic diseases

Pathogenic/Likely pathogenic 2

p.Val287Leu Multiple submitters familial sleep-related hypermotor epilepsy
p.Val308Ala Multiple submitters familial sleep-related hypermotor epilepsy

Likely pathogenic 3

c.256-1G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3
p.Leu282His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3
p.Val337Gly Single submitter ⚠

Conflicting classifications of pathogenicity 28

c.255+7G>A Single submitter familial sleep-related hypermotor epilepsy
c.-3G>A Single submitter
p.Ala394Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala402Thr Single submitter Inborn genetic diseases ⚠
p.Arg106Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg362Cys Single submitter Inborn genetic diseases ⚠
p.Arg41His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg425Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg460Cys Single submitter Inborn genetic diseases ⚠
p.Arg47Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn122del Single submitter familial sleep-related hypermotor epilepsy
p.Asp385Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp495= Single submitter familial sleep-related hypermotor epilepsy
p.Gln397His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu214Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu418Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly372Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly372Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly412= Single submitter Inborn genetic diseases
p.Gly417Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.His323Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile458Val Single submitter Inborn genetic diseases ⚠
p.Leu376Phe Single submitter Inborn genetic diseases ⚠
p.Lys110Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Met349Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro209= Single submitter familial sleep-related hypermotor epilepsy
p.Thr328Met Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Val391Leu Single submitter familial sleep-related hypermotor epilepsy ⚠

Benign 16

c.1338+14G>T Multiple submitters familial sleep-related hypermotor epilepsy
c.1339-16C>T Multiple submitters familial sleep-related hypermotor epilepsy
c.1339-23C>A Multiple submitters
c.210+9A>G Multiple submitters familial sleep-related hypermotor epilepsy
c.211-13T>C Multiple submitters familial sleep-related hypermotor epilepsy
c.256-41C>T Multiple submitters
c.366-159A>G Multiple submitters
c.64+133A>G Multiple submitters
c.-214A>G Multiple submitters
c.-53C>T Multiple submitters
c.-55C>T Multiple submitters
c.*113C>G Multiple submitters
c.1338+245A>G Single submitter
c.-39C>G Single submitter
c.-49G>C Single submitter
p.Leu307= Single submitter

Benign/Likely benign 15

c.255+7G>C Multiple submitters familial sleep-related hypermotor epilepsy
p.Ala411= Multiple submitters familial sleep-related hypermotor epilepsy
p.Arg460Gly Multiple submitters familial sleep-related hypermotor epilepsy
p.Asp124= Multiple submitters familial sleep-related hypermotor epilepsy
p.Gly412Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.His161= Multiple submitters familial sleep-related hypermotor epilepsy
p.Leu258= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 3
p.Leu37= Multiple submitters familial sleep-related hypermotor epilepsy
p.Leu376= Multiple submitters Inborn genetic diseases
p.Phe478Leu Multiple submitters familial sleep-related hypermotor epilepsy
p.Phe99= Multiple submitters
p.Ser494= Multiple submitters familial sleep-related hypermotor epilepsy
p.Thr26Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr50= Multiple submitters familial sleep-related hypermotor epilepsy
p.Val469= Multiple submitters familial sleep-related hypermotor epilepsy

Likely benign 216

c.1338+25G>A Multiple submitters
c.255+15T>G Multiple submitters familial sleep-related hypermotor epilepsy
c.64+185G>A Multiple submitters
c.65-99A>T Multiple submitters
c.-51C>A Multiple submitters
c.*231G>A Multiple submitters
p.Ala275= Multiple submitters Inborn genetic diseases
p.Ala345= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ala373= Multiple submitters familial sleep-related hypermotor epilepsy
p.Arg358His Multiple submitters Inborn genetic diseases ⚠
p.Arg41= Multiple submitters familial sleep-related hypermotor epilepsy
p.Arg460= Multiple submitters familial sleep-related hypermotor epilepsy
p.Arg91His Multiple submitters familial sleep-related hypermotor epilepsy
p.Asn392= Multiple submitters familial sleep-related hypermotor epilepsy
p.Asp116= Multiple submitters familial sleep-related hypermotor epilepsy
p.Asp429= Multiple submitters familial sleep-related hypermotor epilepsy
p.Asp436= Multiple submitters familial sleep-related hypermotor epilepsy
p.Asp443= Multiple submitters Inborn genetic diseases
p.Cys317= Multiple submitters familial sleep-related hypermotor epilepsy
p.Glu380= Multiple submitters familial sleep-related hypermotor epilepsy
p.Glu98= Multiple submitters familial sleep-related hypermotor epilepsy
p.Gly25= Multiple submitters familial sleep-related hypermotor epilepsy
p.Gly412Ser Multiple submitters familial sleep-related hypermotor epilepsy
p.Gly414= Multiple submitters familial sleep-related hypermotor epilepsy
p.His35Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.His496= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ile143= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ile205= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ile475= Multiple submitters Inborn genetic diseases
p.Leu282= Multiple submitters familial sleep-related hypermotor epilepsy
p.Leu67= Multiple submitters Inborn genetic diseases
p.Pro234= Multiple submitters familial sleep-related hypermotor epilepsy
p.Pro259= Multiple submitters
p.Pro413= Multiple submitters familial sleep-related hypermotor epilepsy
p.Pro419= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ser260= Multiple submitters Inborn genetic diseases
p.Ser395= Multiple submitters familial sleep-related hypermotor epilepsy
p.Thr267= Multiple submitters familial sleep-related hypermotor epilepsy
p.Tyr151= Multiple submitters familial sleep-related hypermotor epilepsy
p.Val454= Multiple submitters familial sleep-related hypermotor epilepsy
c.1338+10G>A Single submitter familial sleep-related hypermotor epilepsy
c.1338+10G>T Single submitter familial sleep-related hypermotor epilepsy
c.1338+9C>T Single submitter familial sleep-related hypermotor epilepsy
c.1339-15G>A Single submitter familial sleep-related hypermotor epilepsy
c.1339-183C>T Single submitter
c.1339-5T>C Single submitter familial sleep-related hypermotor epilepsy
c.1339-6A>T Single submitter familial sleep-related hypermotor epilepsy
c.1339-7C>T Single submitter familial sleep-related hypermotor epilepsy
c.210+10G>A Single submitter familial sleep-related hypermotor epilepsy
c.210+15C>T Single submitter familial sleep-related hypermotor epilepsy
c.210+18del Single submitter familial sleep-related hypermotor epilepsy
c.210+3G>A Single submitter familial sleep-related hypermotor epilepsy
c.211-10C>A Single submitter familial sleep-related hypermotor epilepsy
c.211-15T>C Single submitter familial sleep-related hypermotor epilepsy
c.211-20G>C Single submitter familial sleep-related hypermotor epilepsy
c.211-6C>T Single submitter familial sleep-related hypermotor epilepsy
c.211-7C>A Single submitter familial sleep-related hypermotor epilepsy
c.211-8C>T Single submitter familial sleep-related hypermotor epilepsy
c.255+12T>C Single submitter familial sleep-related hypermotor epilepsy
c.255+13G>A Single submitter familial sleep-related hypermotor epilepsy
c.255+16C>T Single submitter familial sleep-related hypermotor epilepsy
c.255+8_255+9insTT Single submitter familial sleep-related hypermotor epilepsy
c.256-10C>G Single submitter familial sleep-related hypermotor epilepsy
c.256-10C>T Single submitter familial sleep-related hypermotor epilepsy
c.256-15T>C Single submitter familial sleep-related hypermotor epilepsy
c.256-17C>A Single submitter familial sleep-related hypermotor epilepsy
c.365+13G>A Single submitter familial sleep-related hypermotor epilepsy
c.365+19T>C Single submitter familial sleep-related hypermotor epilepsy
c.366-13C>G Single submitter familial sleep-related hypermotor epilepsy
c.366-17T>C Single submitter familial sleep-related hypermotor epilepsy
c.366-20C>T Single submitter familial sleep-related hypermotor epilepsy
c.366-4G>A Single submitter familial sleep-related hypermotor epilepsy
c.64+13C>T Single submitter familial sleep-related hypermotor epilepsy
c.64+14G>T Single submitter familial sleep-related hypermotor epilepsy
c.64+17C>T Single submitter familial sleep-related hypermotor epilepsy
c.64+244C>T Single submitter
c.64+8A>G Single submitter familial sleep-related hypermotor epilepsy
c.64+9A>G Single submitter familial sleep-related hypermotor epilepsy
c.65-10C>A Single submitter familial sleep-related hypermotor epilepsy
c.65-221G>A Single submitter
c.65-9C>T Single submitter familial sleep-related hypermotor epilepsy
c.-37A>C Single submitter
c.*13T>C Single submitter
p.Ala135= Single submitter familial sleep-related hypermotor epilepsy
p.Ala149= Single submitter familial sleep-related hypermotor epilepsy
p.Ala154= Single submitter familial sleep-related hypermotor epilepsy
p.Ala252= Single submitter familial sleep-related hypermotor epilepsy
p.Ala332= Single submitter familial sleep-related hypermotor epilepsy
p.Ala345_Leu346= Single submitter familial sleep-related hypermotor epilepsy
p.Ala357= Single submitter familial sleep-related hypermotor epilepsy
p.Ala384= Single submitter familial sleep-related hypermotor epilepsy
p.Ala394= Single submitter familial sleep-related hypermotor epilepsy
p.Ala400= Single submitter familial sleep-related hypermotor epilepsy
p.Ala405= Single submitter familial sleep-related hypermotor epilepsy
p.Ala427= Single submitter familial sleep-related hypermotor epilepsy
p.Ala435= Single submitter familial sleep-related hypermotor epilepsy
p.Ala455= Single submitter familial sleep-related hypermotor epilepsy
p.Ala9= Single submitter familial sleep-related hypermotor epilepsy
p.Arg106= Single submitter familial sleep-related hypermotor epilepsy
p.Arg18= Single submitter familial sleep-related hypermotor epilepsy
p.Arg231= Single submitter familial sleep-related hypermotor epilepsy
p.Arg31= Single submitter familial sleep-related hypermotor epilepsy
p.Arg360= Single submitter familial sleep-related hypermotor epilepsy
p.Arg364Gln Single submitter familial sleep-related hypermotor epilepsy
p.Arg365= Single submitter familial sleep-related hypermotor epilepsy
p.Arg366= Single submitter familial sleep-related hypermotor epilepsy
p.Arg370= Single submitter familial sleep-related hypermotor epilepsy
p.Arg425= Single submitter familial sleep-related hypermotor epilepsy
p.Arg47= Single submitter familial sleep-related hypermotor epilepsy
p.Asn134= Single submitter familial sleep-related hypermotor epilepsy
p.Asn213= Single submitter familial sleep-related hypermotor epilepsy
p.Asn215= Single submitter familial sleep-related hypermotor epilepsy
p.Asn320= Single submitter familial sleep-related hypermotor epilepsy
p.Asn43= Single submitter familial sleep-related hypermotor epilepsy
p.Asn80= Single submitter familial sleep-related hypermotor epilepsy
p.Asp217= Single submitter familial sleep-related hypermotor epilepsy
p.Asp223= Single submitter familial sleep-related hypermotor epilepsy
p.Asp385= Single submitter familial sleep-related hypermotor epilepsy
p.Asp459= Single submitter familial sleep-related hypermotor epilepsy
p.Cys20= Single submitter familial sleep-related hypermotor epilepsy
p.Cys356= Single submitter familial sleep-related hypermotor epilepsy
p.Cys389= Single submitter familial sleep-related hypermotor epilepsy
p.Gln166= Single submitter familial sleep-related hypermotor epilepsy
p.Gln350= Single submitter familial sleep-related hypermotor epilepsy
p.Gln59= Single submitter familial sleep-related hypermotor epilepsy
p.Gly372= Single submitter familial sleep-related hypermotor epilepsy
p.Gly374= Single submitter familial sleep-related hypermotor epilepsy
p.Gly383= Single submitter familial sleep-related hypermotor epilepsy
p.Gly398= Single submitter familial sleep-related hypermotor epilepsy
p.Gly417= Single submitter familial sleep-related hypermotor epilepsy
p.Gly430= Single submitter familial sleep-related hypermotor epilepsy
p.Gly6= Single submitter familial sleep-related hypermotor epilepsy
p.His111= Single submitter familial sleep-related hypermotor epilepsy
p.His322= Single submitter familial sleep-related hypermotor epilepsy
p.His71Gln Single submitter familial sleep-related hypermotor epilepsy
p.Ile183= Single submitter familial sleep-related hypermotor epilepsy
p.Ile205Val Single submitter ⚠
p.Ile230= Single submitter familial sleep-related hypermotor epilepsy
p.Ile242= Single submitter familial sleep-related hypermotor epilepsy
p.Ile243= Single submitter familial sleep-related hypermotor epilepsy
p.Ile312= Single submitter familial sleep-related hypermotor epilepsy
p.Ile434= Single submitter familial sleep-related hypermotor epilepsy
p.Ile458= Single submitter familial sleep-related hypermotor epilepsy
p.Ile46= Single submitter familial sleep-related hypermotor epilepsy
p.Ile465= Single submitter familial sleep-related hypermotor epilepsy
p.Leu10= Single submitter familial sleep-related hypermotor epilepsy
p.Leu107= Single submitter familial sleep-related hypermotor epilepsy
p.Leu11= Single submitter familial sleep-related hypermotor epilepsy
p.Leu114= Single submitter familial sleep-related hypermotor epilepsy
p.Leu19= Single submitter familial sleep-related hypermotor epilepsy
p.Leu208= Single submitter familial sleep-related hypermotor epilepsy
p.Leu273= Single submitter familial sleep-related hypermotor epilepsy
p.Leu280= Single submitter familial sleep-related hypermotor epilepsy
p.Leu281= Single submitter
p.Leu292= Single submitter familial sleep-related hypermotor epilepsy
p.Leu340= Single submitter familial sleep-related hypermotor epilepsy
p.Leu347= Single submitter familial sleep-related hypermotor epilepsy
p.Leu36= Single submitter familial sleep-related hypermotor epilepsy
p.Leu363= Single submitter familial sleep-related hypermotor epilepsy
p.Leu461= Single submitter familial sleep-related hypermotor epilepsy
p.Leu461Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu492= Single submitter familial sleep-related hypermotor epilepsy
p.Leu83= Single submitter familial sleep-related hypermotor epilepsy
p.Lys152= Single submitter familial sleep-related hypermotor epilepsy
p.Lys336= Single submitter familial sleep-related hypermotor epilepsy
p.Met331Val Single submitter familial sleep-related hypermotor epilepsy
p.Phe131= Single submitter familial sleep-related hypermotor epilepsy
p.Phe14= Single submitter familial sleep-related hypermotor epilepsy
p.Phe144= Single submitter familial sleep-related hypermotor epilepsy
p.Phe162= Single submitter familial sleep-related hypermotor epilepsy
p.Phe236= Single submitter familial sleep-related hypermotor epilepsy
p.Phe303= Single submitter familial sleep-related hypermotor epilepsy
p.Phe433= Single submitter familial sleep-related hypermotor epilepsy
p.Pro147= Single submitter familial sleep-related hypermotor epilepsy
p.Pro216= Single submitter familial sleep-related hypermotor epilepsy
p.Pro295= Single submitter familial sleep-related hypermotor epilepsy
p.Pro344= Single submitter familial sleep-related hypermotor epilepsy
p.Pro382= Single submitter familial sleep-related hypermotor epilepsy
p.Pro407= Single submitter familial sleep-related hypermotor epilepsy
p.Pro499= Single submitter familial sleep-related hypermotor epilepsy
p.Pro7= Single submitter familial sleep-related hypermotor epilepsy
p.Ser153= Single submitter familial sleep-related hypermotor epilepsy
p.Ser175= Single submitter familial sleep-related hypermotor epilepsy
p.Ser315= Single submitter familial sleep-related hypermotor epilepsy
p.Ser386Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Thr177= Single submitter familial sleep-related hypermotor epilepsy
p.Thr198= Single submitter familial sleep-related hypermotor epilepsy
p.Thr220= Single submitter familial sleep-related hypermotor epilepsy
p.Thr225= Single submitter familial sleep-related hypermotor epilepsy
p.Thr26= Single submitter familial sleep-related hypermotor epilepsy
p.Thr28= Single submitter familial sleep-related hypermotor epilepsy
p.Thr304= Single submitter familial sleep-related hypermotor epilepsy
p.Thr328= Single submitter familial sleep-related hypermotor epilepsy
p.Thr330= Single submitter familial sleep-related hypermotor epilepsy
p.Thr388= Single submitter familial sleep-related hypermotor epilepsy
p.Thr487= Single submitter familial sleep-related hypermotor epilepsy
p.Thr490= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr120= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr127= Single submitter
p.Tyr178= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr221= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr226= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr453= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr486= Single submitter familial sleep-related hypermotor epilepsy
p.Tyr90= Single submitter familial sleep-related hypermotor epilepsy
p.Val105= Single submitter familial sleep-related hypermotor epilepsy
p.Val137= Single submitter familial sleep-related hypermotor epilepsy
p.Val23= Single submitter familial sleep-related hypermotor epilepsy
p.Val287= Single submitter familial sleep-related hypermotor epilepsy
p.Val297= Single submitter familial sleep-related hypermotor epilepsy
p.Val306= Single submitter familial sleep-related hypermotor epilepsy
p.Val337= Single submitter familial sleep-related hypermotor epilepsy
p.Val447= Single submitter familial sleep-related hypermotor epilepsy
p.Val471= Single submitter familial sleep-related hypermotor epilepsy
p.Val58= Single submitter
p.Leu185= No assertion criteria CHRNB2-related disorder

Uncertain significance 368

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

c.1338+3G>T Multiple submitters familial sleep-related hypermotor epilepsy
c.366-3C>T Multiple submitters familial sleep-related hypermotor epilepsy
c.65-2del Multiple submitters familial sleep-related hypermotor epilepsy
p.Ala135Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala154Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala207Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala252Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala2Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala357Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala373Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala394Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala400Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala411Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ala455Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg106Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg212Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg231Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg232Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg232His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg31Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg368Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg370His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg3Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg41Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg432Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg460His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg47His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Arg73Trp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Asn101Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Asn134Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Asn392Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp217Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Asp459Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Cys245fs Multiple submitters familial sleep-related hypermotor epilepsy
p.Cys269Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Cys470fs Multiple submitters familial sleep-related hypermotor epilepsy
p.Cys5Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gln445Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gln480Ter Multiple submitters familial sleep-related hypermotor epilepsy
p.Glu371fs Multiple submitters familial sleep-related hypermotor epilepsy
p.Glu418Ter Multiple submitters familial sleep-related hypermotor epilepsy
p.Glu441Asp Multiple submitters ⚠
p.Glu74Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly125Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly22Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly298Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly298Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly298Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly414Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly417Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly430Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly473Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly476Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Gly52Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ile283fs Multiple submitters familial sleep-related hypermotor epilepsy
p.Ile434Met Multiple submitters Inborn genetic diseases ⚠
p.Ile475Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ile475Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu282Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu307Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu361Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu36Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu376Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Leu461Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Lys172Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Lys265del Multiple submitters familial sleep-related hypermotor epilepsy
p.Lys265Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Met266Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Met438Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Met438Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Phe162Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Phe378del Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 3
p.Phe390Leu Multiple submitters ⚠
p.Pro216Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Pro409Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Pro419Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ser200Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ser325Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ser440Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser440Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ser446= Multiple submitters familial sleep-related hypermotor epilepsy
p.Ser494Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Ser500Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr220Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr220Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr225Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr28Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr304Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr50Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Thr57Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr93Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Trp451Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr178Ter Multiple submitters Inborn genetic diseases
p.Val272fs Multiple submitters familial sleep-related hypermotor epilepsy
p.Val287_Pro289del Multiple submitters familial sleep-related hypermotor epilepsy
p.Val313Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Val321Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Val335Met Multiple submitters Inborn genetic diseases ⚠
p.Val391_Ala394delinsLeuThrAspSerCysThr Multiple submitters
p.Val428Met Multiple submitters Inborn genetic diseases ⚠
p.Val431Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
p.Val454Ile Multiple submitters Inborn genetic diseases ⚠
c.210+2T>C Single submitter familial sleep-related hypermotor epilepsy
c.211-3C>A Single submitter familial sleep-related hypermotor epilepsy
c.255+6C>T Single submitter familial sleep-related hypermotor epilepsy
c.365+1G>C Single submitter
c.365+2T>C Single submitter familial sleep-related hypermotor epilepsy
c.64+3A>G Single submitter familial sleep-related hypermotor epilepsy
c.64+6G>C Single submitter
c.65-2A>G Single submitter familial sleep-related hypermotor epilepsy
p.361LR[3] Single submitter familial sleep-related hypermotor epilepsy
p.Ala123Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala123Val Single submitter ⚠
p.Ala207Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala275Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala345Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala345Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala373Ser Single submitter ⚠
p.Ala375Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala381Val Single submitter ⚠
p.Ala384Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala408_Pro409insAla Single submitter familial sleep-related hypermotor epilepsy
p.Ala411Glu Single submitter ⚠
p.Ala427Val Single submitter Inborn genetic diseases ⚠
p.Ala455Ser Single submitter ⚠
p.Ala455Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala498Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ala49Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg174fs Single submitter familial sleep-related hypermotor epilepsy
p.Arg180Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg180His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg180Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg18Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg211Gln Single submitter ⚠
p.Arg212His Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3 ⚠
p.Arg31Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg324Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg324Leu Single submitter familial sleep-related hypermotor epilepsy
p.Arg353His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg358Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg358Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg360Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg365Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg366_Gln367insArg Single submitter familial sleep-related hypermotor epilepsy
p.Arg366Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg368Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg379Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg393Cys Single submitter Inborn genetic diseases ⚠
p.Arg3Gly Single submitter Inborn genetic diseases ⚠
p.Arg415His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg415Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg432His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg432Leu Single submitter ⚠
p.Arg432Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg439Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg439Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg4Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg73Gln Single submitter ⚠
p.Arg91Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Arg91Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn101His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn122= Single submitter familial sleep-related hypermotor epilepsy
p.Asn134Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn320Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn392fs Single submitter familial sleep-related hypermotor epilepsy
p.Asn485Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asn51Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp116His Single submitter ⚠
p.Asp179Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp179Gly Single submitter ⚠
p.Asp179His Single submitter Inborn genetic diseases ⚠
p.Asp184Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp217fs Single submitter familial sleep-related hypermotor epilepsy
p.Asp217Glu Single submitter ⚠
p.Asp218Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp218Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp227Glu Single submitter Inborn genetic diseases ⚠
p.Asp27Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp293Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp429Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp442Asn Single submitter ⚠
p.Asp459Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Asp459Tyr Single submitter ⚠
p.Cys20Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Cys262Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Cys269Ter Single submitter familial sleep-related hypermotor epilepsy
p.Cys269Tyr Single submitter Inborn genetic diseases ⚠
p.Cys356Ter Single submitter Inborn genetic diseases
p.Cys387Ter Single submitter familial sleep-related hypermotor epilepsy
p.Cys470_Val471del Single submitter
p.Cys5Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln350Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln367Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln397Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln397fs Single submitter
p.Gln397Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln445His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln480del Single submitter familial sleep-related hypermotor epilepsy
p.Gln484Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln59Ter Single submitter familial sleep-related hypermotor epilepsy
p.Gln75Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gln75Pro Single submitter ⚠
p.Gln85= Single submitter
p.Glu182Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu182fs Single submitter familial sleep-related hypermotor epilepsy
p.Glu202Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu214Gln Single submitter ⚠
p.Glu264Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu264Ter Single submitter familial sleep-related hypermotor epilepsy
p.Glu30Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu371Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu380Asp Single submitter Inborn genetic diseases ⚠
p.Glu418Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Glu88Gln Single submitter Inborn genetic diseases ⚠
p.Glu88Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly125Cys Single submitter ⚠
p.Gly141= Single submitter familial sleep-related hypermotor epilepsy
p.Gly141Asp Single submitter ⚠
p.Gly15Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly263Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly383Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly401Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly401Trp Single submitter ⚠
p.Gly404Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly412Arg Single submitter ⚠
p.Gly414fs Single submitter familial sleep-related hypermotor epilepsy
p.Gly430Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Gly6Cys Single submitter ⚠
p.His161Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.His354Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.His493fs Single submitter
p.His496Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.His71Arg Single submitter ⚠
p.Ile112Val Single submitter ⚠
p.Ile150Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile157Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile183Met Single submitter ⚠
p.Ile183Phe Single submitter ⚠
p.Ile229Met Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile283Asn Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3 ⚠
p.Ile283Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile283Thr Single submitter ⚠
p.Ile434Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Ile475Thr Single submitter Inborn genetic diseases ⚠
p.Leu11fs Single submitter familial sleep-related hypermotor epilepsy
p.Leu11Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu12Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu17His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu17Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu185Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu247fs Single submitter
p.Leu247Phe Single submitter Inborn genetic diseases ⚠
p.Leu247Pro Single submitter ⚠
p.Leu268fs Single submitter familial sleep-related hypermotor epilepsy
p.Leu274fs Single submitter familial sleep-related hypermotor epilepsy
p.Leu274Gln Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3 ⚠
p.Leu281fs Single submitter
p.Leu319Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu32= Single submitter
p.Leu347His Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu347Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu361Gln Single submitter Inborn genetic diseases ⚠
p.Leu424Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu461Val Single submitter ⚠
p.Leu492Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Leu92Phe Single submitter Inborn genetic diseases ⚠
p.Lys156Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Lys156Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Lys502Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Met102Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Met102Leu Single submitter Inborn genetic diseases ⚠
p.Met126Ile Single submitter autosomal dominant nocturnal frontal lobe epilepsy 3 ⚠
p.Met1Leu Single submitter familial sleep-related hypermotor epilepsy
p.Met1Val Single submitter familial sleep-related hypermotor epilepsy
p.Met266Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Met349Lys Single submitter ⚠
p.Met456Ile Single submitter ⚠
p.Met477Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe14Cys Single submitter ⚠
p.Phe228Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe310Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe339Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe378Ser Single submitter ⚠
p.Phe390Ile Single submitter ⚠
p.Phe390Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe403Cys Single submitter Inborn genetic diseases ⚠
p.Phe403Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe468Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe472Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe491Val Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Phe99fs Single submitter familial sleep-related hypermotor epilepsy
p.Pro115Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro209Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro216Thr Single submitter ⚠
p.Pro234Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro288Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro288Ser Single submitter ⚠
p.Pro295Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro326Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
p.Pro413Arg Single submitter familial sleep-related hypermotor epilepsy ⚠