Sugi Variant

Sugi Variant/CHRNA2

CHRNA2 — 815 ClinVar variants

All ClinVar germline CHRNA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 407 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 78 Conflicting · 59 Benign · 20 Benign/Likely benign · 221 Likely benign · 433 Uncertain significance

Full CHRNA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 407

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 33

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

Predictors lean, ClinVar uncertain 235

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 235

Predictors split 139

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

All CHRNA2 variants

Pathogenic 2

  • p.Ile279Asn No assertion criteria autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Ile297Phe No assertion criteria autosomal dominant nocturnal frontal lobe epilepsy 4

Likely pathogenic 2

  • p.Ala163Thr Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Ser432fs Single submitter

Conflicting classifications of pathogenicity 78

  • c.1465-3C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.339+10C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.-565T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Ala249Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala424Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg121His Single submitter Inborn genetic diseases ⚠
  • p.Arg355Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg367Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg376Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg382Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg394Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg481Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg61Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg68Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg68Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg72His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg72Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg87Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn108Thr Single submitter CHRNA2-related disorder ⚠
  • p.Asn123Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp144Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp292Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp39Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp478Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp97Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys373Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln215Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu330= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu412Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly128Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly229Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly329= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly368Val Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Gly440Ser Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Gly518Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His172Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His465fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile145Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile328= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile510= Single submitter Inborn genetic diseases
  • p.Leu313Phe Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Leu389Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu41Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu41Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu455Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu462Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu66Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Lys490Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Met139Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe192= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe334= Single submitter familial sleep-related hypermotor epilepsy
  • p.Phe8= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro290Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro319= Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Pro375Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro384Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro50Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro523Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro76Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser203fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser291= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser358Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser400Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser447Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser488= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr107= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr161Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr168Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr340Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr47= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr47Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr56Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr58Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Trp17Cys Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Val109Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val234Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val408Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val473Gly Single submitter Inborn genetic diseases ⚠

Benign 59

  • c.1465-21T>C Multiple submitters
  • c.295-16_295-7dup Multiple submitters familial sleep-related hypermotor epilepsy
  • c.339+12_339+13del Multiple submitters familial sleep-related hypermotor epilepsy
  • c.449+12T>C Multiple submitters familial sleep-related hypermotor epilepsy
  • c.450-29G>A Multiple submitters
  • c.450-87C>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.73+149C>G Multiple submitters
  • c.-137+99G>A Multiple submitters
  • c.-448G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-45C>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-561A>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-563T>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1159T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1384C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1701C>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1809T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1849A>G Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*511G>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*602T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*721G>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*755G>A Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Asp117= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu305= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu442= Multiple submitters Inborn genetic diseases
  • p.Thr125Ala Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr22Ile Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Tyr257= Multiple submitters familial sleep-related hypermotor epilepsy
  • c.339+13del Single submitter
  • c.339+13dup Single submitter familial sleep-related hypermotor epilepsy
  • c.339+8C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.340-16C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.340-336C>A Single submitter
  • c.449+17del Single submitter familial sleep-related hypermotor epilepsy
  • c.449+317A>G Single submitter
  • c.450-295A>G Single submitter
  • c.73+236G>A Single submitter
  • c.74-341C>A Single submitter
  • c.74-343G>C Single submitter
  • c.-132G>A Single submitter
  • c.-136-189G>C Single submitter
  • c.-136-19C>T Single submitter
  • c.-422G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-424C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-447T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-562GA[8] Single submitter
  • c.*1003G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1006G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1117G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1392A>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1403C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1446A>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1480C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1667G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*29G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*384G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*623G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*771C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*936C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Thr315= Single submitter

Benign/Likely benign 20

  • c.294+100C>T Multiple submitters
  • c.294+116T>C Multiple submitters
  • c.294+28G>A Multiple submitters
  • c.340-15C>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.74-17C>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.-379T>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*108C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*285G>C Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Ala163= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg134Lys Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg367Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp478Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.His479= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile500= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys244Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Phe310= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser116Ile Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser15= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser228= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Thr237Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠

Likely benign 221

  • c.1464+10G>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.1464+20G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.294+20G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.295-12T>G Multiple submitters familial sleep-related hypermotor epilepsy
  • c.339+7G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.449+9C>G Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala258Thr Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala477= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Arg75= Multiple submitters Inborn genetic diseases
  • p.Asp254= Multiple submitters Inborn genetic diseases
  • p.Asp82= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Cys300= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gln456= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu419= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu420= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly445= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gly458= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.His353= Multiple submitters Inborn genetic diseases
  • p.His391Gln Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu461= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe127= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe259= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe338= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro175= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro386= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro392= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro392Ser Multiple submitters Inborn genetic diseases
  • p.Pro44= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro50= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro50Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro76= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser203= Multiple submitters Inborn genetic diseases
  • p.Ser356= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser4= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ser444Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr158Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Tyr245= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Tyr70= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val366= Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val387Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val83Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • c.1464+10G>C Single submitter
  • c.1464+12T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.1464+153_1464+160del Single submitter
  • c.1464+260G>A Single submitter
  • c.1464+7_1464+8del Single submitter familial sleep-related hypermotor epilepsy
  • c.1464+7T>G Single submitter familial sleep-related hypermotor epilepsy
  • c.1465-290C>T Single submitter
  • c.1465-299G>A Single submitter
  • c.1465-45T>A Single submitter
  • c.1465-6C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.294+10T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.294+11C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.294+19C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.294+41C>T Single submitter
  • c.294+4C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.295-19C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.295-5G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.295-8del Single submitter familial sleep-related hypermotor epilepsy
  • c.295-9C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.339+11C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.339+8C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.340-11C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.340-18C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.340-8A>C Single submitter familial sleep-related hypermotor epilepsy
  • c.340-9C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.449+16G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.449+231A>G Single submitter
  • c.449+2T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.450-156A>G Single submitter
  • c.450-15C>A Single submitter familial sleep-related hypermotor epilepsy
  • c.450-9T>A Single submitter familial sleep-related hypermotor epilepsy
  • c.73+16C>G Single submitter familial sleep-related hypermotor epilepsy
  • c.74-207T>C Single submitter
  • c.74-346C>T Single submitter
  • c.74-50A>G Single submitter Inborn genetic diseases
  • c.-136-3C>T Single submitter
  • c.*8T>C Single submitter
  • p.Ala232Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala232Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala249= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala410= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala424= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala74= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala74Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg121= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg263= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg35= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg394Pro Single submitter
  • p.Arg413= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg481= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg61= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg61Pro Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg68Gln Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg72= Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg72Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg75Cys Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn108= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn241= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn407= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asn71= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp152= Single submitter
  • p.Asp186= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp207= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp421= Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp82Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp97= Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys5= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln467= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gln94= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu28Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu388= Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu491= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly153= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly2= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly202= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly229= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly26= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly294= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly368= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly434Asp Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly527= Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly52Arg Single submitter familial sleep-related hypermotor epilepsy
  • p.His402= Single submitter familial sleep-related hypermotor epilepsy
  • p.His439= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile211= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile233= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile343= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile345= Single submitter
  • p.Ile517= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile92= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile96= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ile96Met Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu111= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu111Pro Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu120= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu16= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu264= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu278= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu282= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu289= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu304= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu311= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu312= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu327= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu350= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu371= Single submitter
  • p.Leu436Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu455= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu460= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu470= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu505= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu519= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu525= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu66= Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu90= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys200= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys396= Single submitter familial sleep-related hypermotor epilepsy
  • p.Lys494= Single submitter familial sleep-related hypermotor epilepsy
  • p.Met216Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Phe513= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro124= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro143= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro176Ser Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro23= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro253= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro265= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro3= Single submitter Inborn genetic diseases
  • p.Pro326= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro33Arg Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro383Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Pro385= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro385Leu Single submitter Inborn genetic diseases
  • p.Pro431Leu Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro449Arg Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro523= Single submitter familial sleep-related hypermotor epilepsy
  • p.Pro523Gln Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser116= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser116Arg Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser116Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser137= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser181= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser302= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser306= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser322= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser398= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser400= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser444= Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser444Pro Single submitter familial sleep-related hypermotor epilepsy
  • p.Ser487Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ser54= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr125= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr168= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr188= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr205= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr237= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr239= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr298= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr308= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr340= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr346= Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr361= Single submitter Inborn genetic diseases
  • p.Thr435Ala Single submitter familial sleep-related hypermotor epilepsy
  • p.Thr435Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Thr56= Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr118= Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr148= Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr206= Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr331= Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr401Cys Single submitter familial sleep-related hypermotor epilepsy
  • p.Tyr475Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val109= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val187Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Val284= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val349= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val374= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val387= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val415= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val416= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val511= Single submitter familial sleep-related hypermotor epilepsy
  • p.Val77= Single submitter familial sleep-related hypermotor epilepsy

Uncertain significance 433

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

  • c.1464+4C>T Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.1464+5G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.294+1G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.294+5G>A Multiple submitters familial sleep-related hypermotor epilepsy
  • c.449+3A>T Multiple submitters familial sleep-related hypermotor epilepsy
  • c.73+4A>C Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala177fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ala177Pro Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala36Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ala74Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg121Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg121Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg121Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg134Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg262Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg263Trp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg31Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg355His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg376Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg394His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg72Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg75His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Arg87His Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn102Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn108Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn150del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Asn351Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asn71Ser Multiple submitters autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Asp126Tyr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp144Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp144Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp193Asn Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp193Tyr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp421Gly Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Asp501Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys197Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Cys197Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Cys425Ter Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Gln215Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu411Ter Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu419Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu420del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu420fs Multiple submitters developmental and epileptic encephalopathy
  • p.Glu452Ter Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Glu57Lys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Glu59Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly153Glu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly25Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly294Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly294Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly329Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Gly458Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.His443fs Multiple submitters Inborn genetic diseases
  • p.His65Tyr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile233Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile251Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile270Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile279Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile476Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ile500del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Ile96Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu341Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu41fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Leu460Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu519Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Leu62Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Lys101Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Lys162fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys296del Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Lys450Asn Multiple submitters benign familial infantile epilepsy ⚠
  • p.Met199Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Met216Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Met362Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe127Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Phe287_Tyr288delinsHis Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Phe67Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro175Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro175Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro176Gln Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro319Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro375Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro383Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro385fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Pro46Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Pro76Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser242Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser302Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser320Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser322Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser406Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Ser488Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr256Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr340Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Thr359Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Trp226Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Trp377Ter Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Trp506Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr148Cys Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Tyr495fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val135fs Multiple submitters familial sleep-related hypermotor epilepsy
  • p.Val284Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val324Asp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val339Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val344Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val347Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val349Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val511Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • p.Val511Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
  • c.1464+5G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.1465-1G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.1465-21_1465-20inv Single submitter familial sleep-related hypermotor epilepsy
  • c.1465-2A>G Single submitter familial sleep-related hypermotor epilepsy
  • c.294+2T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.294+6C>T Single submitter familial sleep-related hypermotor epilepsy
  • c.295-18T>A Single submitter familial sleep-related hypermotor epilepsy
  • c.295-6G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.295-7G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.339+2T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.339+3G>A Single submitter familial sleep-related hypermotor epilepsy
  • c.339+5G>C Single submitter familial sleep-related hypermotor epilepsy
  • c.450-1G>T Single submitter familial sleep-related hypermotor epilepsy
  • c.450-2A>C Single submitter
  • c.73+5G>A Single submitter
  • c.73+6T>G Single submitter familial sleep-related hypermotor epilepsy
  • c.74-14T>A Single submitter familial sleep-related hypermotor epilepsy
  • c.74-2A>C Single submitter familial sleep-related hypermotor epilepsy
  • c.74-6T>C Single submitter familial sleep-related hypermotor epilepsy
  • c.74-6T>G Single submitter familial sleep-related hypermotor epilepsy
  • c.-133C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-136-14T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-137+11T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-27C>A Single submitter
  • c.-312G>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-471G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-537C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-544C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.-78C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1090C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1096C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1265T>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*133G>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1395C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*159G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1603C>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1688G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1707C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1707C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1752G>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1769C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1775C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*1845A>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*196G>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*348C>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*386G>T Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*479G>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*662T>C Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*892T>A Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • c.*997C>G Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Ala209Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala209Val Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala236Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala24Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala258Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala258Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala29Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala369fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala369Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala36fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Ala36Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala410Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala424Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala426Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala451Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala48Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala526Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala74Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala93Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ala93Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg262fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg262Gln Single submitter ⚠
  • p.Arg263Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg263Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg31His Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg355Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg382_Pro383insTer Single submitter familial sleep-related hypermotor epilepsy
  • p.Arg382Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg422Gly Single submitter ⚠
  • p.Arg422Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg481Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg502Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg61Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg68Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg72Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg75Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Arg75Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg87Ser Single submitter benign familial infantile epilepsy ⚠
  • p.Asn129Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn235His Single submitter Inborn genetic diseases ⚠
  • p.Asn351Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn381Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asn79Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp126Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp152His Single submitter Inborn genetic diseases ⚠
  • p.Asp186Ala Single submitter
  • p.Asp186Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp193Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp207Ala Single submitter ⚠
  • p.Asp212Asn Single submitter ⚠
  • p.Asp212Glu Single submitter ⚠
  • p.Asp221Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp224Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp246Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp421His Single submitter familial sleep-related hypermotor epilepsy
  • p.Asp478fs Single submitter
  • p.Asp478His Single submitter ⚠
  • p.Asp486Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp60Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp60Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Asp99Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp99Val Single submitter ⚠
  • p.Cys183Ter Single submitter familial sleep-related hypermotor epilepsy
  • p.Cys247Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys300Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys373Ser Single submitter ⚠
  • p.Cys425Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys425Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys425Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys512Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys512Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Cys5Ter Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Gln103Lys Single submitter ⚠
  • p.Gln113Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln195Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln215His Single submitter Inborn genetic diseases ⚠
  • p.Gln218Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gln218His Single submitter Inborn genetic diseases ⚠
  • p.Gln456Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu100Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu138fs Single submitter
  • p.Glu230Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu250Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu295Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu316Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu330fs Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Glu388Gly Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4 ⚠
  • p.Glu412Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu414fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu414Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu452Lys Single submitter ⚠
  • p.Glu471Gly Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu483Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Glu491Lys Single submitter ⚠
  • p.Glu57_Thr58insTer Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu57Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu57Ter Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly229_Trp231del Single submitter familial sleep-related hypermotor epilepsy
  • p.Gly238Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly25Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly294Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly329Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly38fs Single submitter autosomal dominant nocturnal frontal lobe epilepsy 4
  • p.Gly427Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly440Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly458Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly472Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly515Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Gly89Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His159Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His172Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His353Asn Single submitter ⚠
  • p.His354Gln Single submitter Seizure ⚠
  • p.His428Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His443Leu Single submitter ⚠
  • p.His465Asp Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His479Gln Single submitter ⚠
  • p.His55Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His65Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.His65fs Single submitter
  • p.His65Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile178Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile270Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile274Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile318Asn Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile337Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile476Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile510Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Ile92Val Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu111Val Single submitter Inborn genetic diseases ⚠
  • p.Leu19Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu272His Single submitter ⚠
  • p.Leu282Phe Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu305Met Single submitter familial sleep-related hypermotor epilepsy
  • p.Leu313Arg Single submitter ⚠
  • p.Leu332Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu341Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu393Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu454= Single submitter
  • p.Leu460Met Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu514Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
  • p.Leu514Pro Single submitter familial sleep-related hypermotor epilepsy ⚠