Sugi Variant

Sugi Variant/CHRNA4

CHRNA4 — 1097 ClinVar variants

All ClinVar germline CHRNA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 475 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 126 Conflicting · 90 Benign · 35 Benign/Likely benign · 380 Likely benign · 457 Uncertain significance

Full CHRNA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 475

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 83

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

Predictors lean, ClinVar uncertain 306

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 306

Predictors split 86

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

All CHRNA4 variants

Pathogenic 3

  • p.Ser280Phe Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser284Leu Multiple submitters CHRNA4-related disorder
  • p.Leu291dup No assertion criteria autosomal dominant nocturnal frontal lobe epilepsy 1

Likely pathogenic 6

  • p.Ile275Phe Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Cys161Arg Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1
  • p.Ile372fs Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1
  • p.Thr293Ile Single submitter ⚠
  • p.Thr313Asn Single submitter familial sleep-related hypermotor epilepsy
  • p.Trp182Arg Single submitter

Conflicting classifications of pathogenicity 126

  • c.1759-4G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.229-10G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.274-13C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.384-8C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.77-4G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.-1C>T Single submitter Inborn genetic diseases
  • p.Ala134Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala214Thr Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala26Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala440Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala477Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala498= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala499Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala509Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala511Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala544Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala567Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala8= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg112Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg120Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg148Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg197Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg333Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg336Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg354His Single submitter Inborn genetic diseases ⚠
  • p.Arg360Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg369Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg369Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg370Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg370Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg450Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg483Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg485Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg487Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg487Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg495Ter Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg513His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg549His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg566Gln Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Arg566Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp104Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp199Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp576His Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys422= Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys529Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln399Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln572Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu387Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu38Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu417Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu476Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu581Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu581Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu589Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu92Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly207= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly272= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly307Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly390Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly397Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly454Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly459Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly481Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly504Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly508Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly570Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly5Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly67Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile321Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile489Ser Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile489Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile574Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu12Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu138= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu290= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu401= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu520= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys439Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Met194Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Phe168Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro13_Leu16dup Single submitter Inborn genetic diseases
  • p.Pro13_Leu17dup Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro154Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro231Leu Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro243= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro382Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro406Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro411His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro425Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro431Ser Single submitter ⚠
  • p.Pro458Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro500Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro526Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro528Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro537Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro542Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro556Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro556Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro562Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro621Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro6Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro9Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser380Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser424Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser46= Single submitter Inborn genetic diseases
  • p.Ser512Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser539Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser543Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser561Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser586Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr324Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr545= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr545Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr614= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr85Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val262Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val281Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val30Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val327Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val410Ile Single submitter familial sleep-related hypermotor epilepsy
  • p.Val468Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val482Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val540Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val546Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val594Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val64Ile Single submitter familial sleep-related hypermotor epilepsy ⚠

Benign 90

Benign/Likely benign 35

  • c.1758+16G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.383+15_383+32del Multiple submitters familial sleep-related hypermotor epilepsy
  • c.384-11T>G Multiple submitters familial sleep-related hypermotor epilepsy
  • c.384-17G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.384-18C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.76+14C>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.76+18G>T Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala134= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala381= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg99His Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asn86= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asp164= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asp75= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu387Gly Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His453= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile292= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile351= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile372= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu3= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu349= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys365= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys42= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe170= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe237= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe316= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe326= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro386= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro451= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro451Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro528= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro554= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro555= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser467= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser517Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr337Met Multiple submitters familial sleep-related hypermotor epilepsy

Likely benign 380

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

  • c.1758+9C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.228+12C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.228+13G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.273+7G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.274-16G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.274-20C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.383+13C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.384-14C>G Multiple submitters familial sleep-related hypermotor epilepsy
  • c.384-9C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.77-102G>C Multiple submitters
  • c.77-214C>T Multiple submitters
  • c.77-5C>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.77-5del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala187Gly Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala227= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala507= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala507Val Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala511Ser Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala563= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg197= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg33= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg354= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg383Cys Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg383His Multiple submitters Inborn genetic diseases
  • p.Arg495Pro Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg549Cys Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asn329= Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1
  • p.Asp130= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asp146= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asp190= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asp350= Multiple submitters Inborn genetic diseases
  • p.Gln172= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu373= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly480= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly481= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His137= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His338Asp Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His35= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His94= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile189= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile321= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile608= Multiple submitters
  • p.Leu289= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu578= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu73= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys423Asn Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys50= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Met605Ile Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe133= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe167= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe179= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe348= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro13Arg Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro14Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro382= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro404= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro474Arg Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro542= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro559= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro6Ser Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser115= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser206= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser280= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser284= Multiple submitters Inborn genetic diseases
  • p.Ser396= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser426= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser445Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser472Phe Multiple submitters Inborn genetic diseases
  • p.Ser517= Multiple submitters Inborn genetic diseases
  • p.Ser539= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser561= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr183= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr261= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr293= Multiple submitters Inborn genetic diseases
  • p.Thr337= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr398= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr532= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr85= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Tyr105= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Tyr184= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Tyr223= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val262= Multiple submitters
  • p.Val363Met Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val468= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val468Ala Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val571Ile Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val609Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val62= Multiple submitters familial sleep-related hypermotor epilepsy
  • c.1758+10G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+12C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+13C>T Single submitter
  • c.1758+15T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+17G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+18C>A Single submitter
  • c.1758+238G>A Single submitter
  • c.1758+29G>A Single submitter
  • c.1758+8C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-15C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-16del Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-16G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-17G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-18_1759-17del Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-18C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-35G>T Single submitter
  • c.228+169C>A Single submitter
  • c.228+17C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.228+25C>A Single submitter
  • c.228+8A>T Single submitter familial sleep-related hypermotor epilepsy
  • c.229-17C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.229-5C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.273+13G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.273+14C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.273+49C>T Single submitter
  • c.273+8G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.274-121_274-46del Single submitter
  • c.274-136C>T Single submitter
  • c.274-14C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.274-17C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.274-19C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.274-9C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.383+14A>G Single submitter familial sleep-related hypermotor epilepsy
  • c.383+15A>C Single submitter familial sleep-related hypermotor epilepsy
  • c.383+16C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.383+279G>C Single submitter
  • c.383+424C>T Single submitter
  • c.383+479G>A Single submitter
  • c.384-122_384-105del Single submitter
  • c.384-125dup Single submitter
  • c.384-135_384-134insGTGGACGTGGGCATGGGT Single submitter
  • c.384-159_384-157del Single submitter
  • c.384-15T>G Single submitter familial sleep-related hypermotor epilepsy
  • c.384-164G>A Single submitter
  • c.384-194G>A Single submitter
  • c.384-199T>G Single submitter
  • c.384-207T>C Single submitter
  • c.384-208_384-203del Single submitter
  • c.384-208G>A Single submitter
  • c.384-226del Single submitter
  • c.384-231C>T Single submitter
  • c.384-232ACGTGG[3] Single submitter
  • c.384-232ACGTGG[5] Single submitter
  • c.384-255C>T Single submitter
  • c.384-5C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.384-7T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.384-98T>C Single submitter
  • c.76+10G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.76+12G>C Single submitter familial sleep-related hypermotor epilepsy
  • c.76+13G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.76+19G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.76+9C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.77-10C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.77-16C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.77-203_77-202insCACACACACACAGCGCACGCCCGG Single submitter
  • c.77-230CA[13] Single submitter
  • c.77-230CA[19] Single submitter
  • c.77-235C>T Single submitter
  • c.77-5C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.77-8C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.77-8C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.-102G>T Single submitter
  • c.-25C>T Single submitter
  • c.-28C>T Single submitter
  • c.-30C>A Single submitter
  • c.-39G>A Single submitter
  • c.*19C>T Single submitter
  • c.*256G>A Single submitter
  • c.*5G>C Single submitter
  • p.Ala214= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala227Thr Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala236= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala440= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala463Gly Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala477= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala509= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala56= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala567= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala71= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala71Thr Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg120= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg197His Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg240= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg25Cys Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg345Cys Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg346= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg370= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg39= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg483= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg600= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg65= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg65His Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn219= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn249= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn49= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn57= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp104= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp122= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp132= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp146Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp185= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp202Glu Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp496= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp524= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp582= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp584= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp60= Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys259= Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys368= Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys529Tyr Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys610= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln200Glu Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln428Leu Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln490= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln72= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu224= Single submitter
  • p.Glu270Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu273= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu294= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu294Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu38Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu38Val Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu501Lys Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu519= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly147= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly22= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly307= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly397= Single submitter Inborn genetic diseases
  • p.Gly475= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly5= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly570= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly616= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly67= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly7= Single submitter familial sleep-related hypermotor epilepsy
  • p.His145= Single submitter familial sleep-related hypermotor epilepsy
  • p.His29= Single submitter familial sleep-related hypermotor epilepsy
  • p.His29Pro Single submitter familial sleep-related hypermotor epilepsy
  • p.His443Gln Single submitter familial sleep-related hypermotor epilepsy
  • p.His443Pro Single submitter familial sleep-related hypermotor epilepsy
  • p.His557= Single submitter
  • p.Ile123= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile163= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile211= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile229= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile248= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile275= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile296= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile306= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile58= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile598= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile601= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile70= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile74= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu11= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu12= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu17= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu19= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu191= Single submitter
  • p.Leu201= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu201Arg Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu24= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu244= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu256= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu263= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu267= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu277= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu285= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu291= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu301= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu305= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu311= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu319= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu355= Single submitter
  • p.Leu356= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu41= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu435= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu44= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu460= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu558= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu560fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu564= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu612= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu619= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu623= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys186= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys377= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys377Glu Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys535Glu Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys552= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys79= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys90= Single submitter familial sleep-related hypermotor epilepsy
  • p.Met314Ile Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe312= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe408= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe45= Single submitter
  • p.Phe585= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe602= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe66= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro121= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro13= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro13Leu Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro14= Single submitter familial sleep-related hypermotor epilepsy

Uncertain significance 457

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

  • c.274-1G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.383+1G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala134Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala26Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala440Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala457Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Ala502Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala506Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala506Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala518Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala567Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala71Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg148Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg221Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg240Trp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg241Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg333His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg345His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg345Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg354Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg39Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg483Trp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg549Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn127Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn174Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn219Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn329Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn49del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asn49Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn57Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp101Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp130Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp171Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp427Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp60Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Cys225Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Cys422Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys533Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Gln150Lys Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Gln172Ter Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu208Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu228Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu270Lys Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu373Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu37Gln Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu37Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu387Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly131Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly180Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly508dup Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly5fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly5Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly616Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly67Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly7Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.His137Arg Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His195Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.His443Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.His557Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile123Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile156Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile229Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile257Met Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile275Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile323Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile598Val Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Ile74Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu15Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu18_Leu19dup Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu244Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu260Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu260Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu267Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu356Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu3Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu40Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Lys359Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Met194Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Met1Thr Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Met314Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Met471Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Met82Thr Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Phe408Ser Multiple submitters ⚠
  • p.Phe618Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Phe66Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro121Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro13_Leu17del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro169Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro169Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro253Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro297Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro361Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro392Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro403fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro403Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro404Ser Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro418Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro442Leu Multiple submitters CHRNA4-related disorder ⚠
  • p.Pro452Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro528Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro555Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro620Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro621Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser258Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser269Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser27Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser380Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser407Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser426Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser441Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser473Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser539Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ser561Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser59Leu Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr109Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr109Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr234Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr395Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr614Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Trp343Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val287Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val317Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val478Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val76Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • c.1758+13_1758+14inv Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+14_1758+15delinsGC Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+1G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1758+4A>G Single submitter familial sleep-related hypermotor epilepsy
  • c.1759-17G>C Single submitter
  • c.1759-19A>C Single submitter familial sleep-related hypermotor epilepsy
  • c.228+10G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.228+6T>A Single submitter familial sleep-related hypermotor epilepsy
  • c.228+6T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.274-17C>A Single submitter
  • c.274-3C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.382_383+1dup Single submitter familial sleep-related hypermotor epilepsy
  • c.383+3G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.384-3C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.384-3C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.76+1G>A Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala103Pro Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Ala236Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala36Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala379fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala394fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala437Val Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Ala457Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala477Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala499Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala509Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala518Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala544Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala553Ser Single submitter
  • p.Ala553Val Single submitter
  • p.Ala56Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala580Thr Single submitter ⚠
  • p.Ala595Val Single submitter ⚠
  • p.Arg10_Pro14dup Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg10Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg10Leu Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg112His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg120Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg221Ser Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg240Pro Single submitter ⚠
  • p.Arg241Gln Single submitter ⚠
  • p.Arg25His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg33Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg33Pro Single submitter ⚠
  • p.Arg33Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg345Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg450His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg485Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg487Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg495Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg513Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg53Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg53Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg600Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg600His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg65Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg99Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg99fs Single submitter
  • p.Asn128del Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn174Ser Single submitter ⚠
  • p.Asn329Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn367Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn514Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn514Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn80Lys Single submitter CHRNA4-related disorder ⚠
  • p.Asn86Lys Single submitter ⚠
  • p.Asp130His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp164Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp164Glu Single submitter ⚠
  • p.Asp164His Single submitter ⚠
  • p.Asp185Asn Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp190Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp202Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp350Asn Single submitter ⚠
  • p.Asp366His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp413_Val414del Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp427Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp497Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp497Gly Single submitter ⚠
  • p.Asp503Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp524Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp576Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp576Glu Single submitter
  • p.Asp582Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp77Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp95Asn Single submitter ⚠
  • p.Cys226Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys368Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys531Phe Single submitter Inborn genetic diseases ⚠
  • p.Gln150Ter Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln172Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln172His Single submitter Inborn genetic diseases
  • p.Gln399Glu Single submitter autosomal dominant nocturnal frontal lobe epilepsy 1 ⚠
  • p.Gln432Ter Single submitter
  • p.Gln469Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln469His Single submitter ⚠
  • p.Gln525Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln72Leu Single submitter Inborn genetic diseases ⚠
  • p.Glu116Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu205Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu205Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu228Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu270Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu273Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu2Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu2Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu308Lys Single submitter Inborn genetic diseases
  • p.Glu308Ter Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu436Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu438Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu501fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly131Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly147Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly207Ser Single submitter ⚠
  • p.Gly207Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly216Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly22Ser Single submitter ⚠
  • p.Gly419Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly454Asp Single submitter ⚠
  • p.Gly47Asp Single submitter ⚠
  • p.Gly47Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly5Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly613= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly7Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His137Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His137Tyr Single submitter ⚠
  • p.His142Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His145Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His29Tyr Single submitter Inborn genetic diseases ⚠
  • p.His376Asn Single submitter ⚠
  • p.His376Tyr Single submitter ⚠
  • p.His402Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His402Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His516Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His577Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile163Val Single submitter tobacco addiction, susceptibility to ⚠
  • p.Ile189Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile211Thr Single submitter ⚠
  • p.Ile211Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile233Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile251Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile252Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile252Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile303Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile351Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile372Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile574Leu Single submitter ⚠
  • p.Ile574Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile58Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile58Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile601Val Single submitter ⚠
  • p.Ile74Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu125Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu138Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu15Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu19dup Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu244Ile Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu250Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu260Val Single submitter CHRNA4-related disorder ⚠
  • p.Leu277Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu282Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu291Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu305Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu319Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu319Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu349Pro Single submitter ⚠
  • p.Leu357Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu3Arg Single submitter ⚠
  • p.Leu401Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu412fs Single submitter
  • p.Leu429Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu460Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu460Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu68Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Lys140Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Lys188Arg Single submitter Inborn genetic diseases ⚠