CHRNB1 — 588 ClinVar variants

All ClinVar germline CHRNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 34 Conflicting · 46 Benign · 12 Benign/Likely benign · 158 Likely benign · 305 Uncertain significance

Full CHRNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 254

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 13

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

CHRNB1 p.Arg102Pro Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg216Gln Conflicting Single submitter
Inborn genetic diseases
CHRNB1 p.Cys376Arg Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly189Arg Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly191Glu Conflicting Single submitter
Inborn genetic diseases
CHRNB1 p.His198Arg Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu79Ser Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe475Ser Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro343Thr Conflicting Single submitter
Inborn genetic diseases
CHRNB1 p.Pro409Ala Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro423Gln Conflicting Single submitter
congenital myasthenic syndrome 4C
CHRNB1 p.Ser441Gly Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val252Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 190

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 190

CHRNB1 p.Ala105Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala15Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala18Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala455Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala45Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala5Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Arg140His Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Arg140Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Arg216Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Arg232Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Arg242Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Arg243His Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Arg347His Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Arg469Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Arg469Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Asn122His Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Asp161Asn Uncertain significance Multiple submitters
congenital myasthenic syndrome 4C
CHRNB1 p.Asp223Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Asp452Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Asp80Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Cys256Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Gln450Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Glu94Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Gly227Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Gly230Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Gly380Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Ile103Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ile129Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Leu101Pro Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Leu332Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Leu332Pro Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Leu360Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Met167Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Met167Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Phe158Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ser177Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Ser24Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ser65Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Ser74Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Thr2Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Thr320Asn Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Thr320Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Thr339Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Thr483Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Thr491Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Trp162Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Trp345Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val114Met Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val21Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val21Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val266Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Val305Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Val319Ala Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Val328Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val328Met Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Val77Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Ala15Gly Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ala413Pro Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ala455Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ala490Ser Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ala93Glu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ala93Gly Uncertain significance Single submitter
congenital myasthenic syndrome 4C
CHRNB1 p.Arg102Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg148His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg216Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg225Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Arg232His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg232Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg242Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg31Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg335Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg335Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Arg335His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg385Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg385Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg425Gln Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Arg434Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg43Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Arg469His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg46Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asn205Asp Uncertain significance Single submitter
CHRNB1 p.Asp124Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp161Tyr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Asp175Asn Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp368His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp388Gly Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp459Gly Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Asp50Tyr Uncertain significance Single submitter
CHRNB1 p.Asp91Asn Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp96Glu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gln193Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gln450Lys Uncertain significance Single submitter
congenital myasthenic syndrome 4C
CHRNB1 p.Gln62Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu229Lys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu234Asp Uncertain significance Single submitter
CHRNB1 p.Glu275Asp Uncertain significance Single submitter
CHRNB1 p.Glu300Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu366Lys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu68Lys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly121Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly145Ser Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly186Asp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly20Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly227Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly23Ser Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Gly28Ser Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly384Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly49Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.His198Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.His340Pro Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ile203Thr Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile211Thr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ile211Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile236Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile240Asn Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile259Phe Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile264Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile281Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Ile324Asn Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu115Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu116Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu262Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu291Pro Uncertain significance Single submitter
CHRNB1 p.Leu400Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu494Phe Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu494Ser Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu66Arg Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Leu81Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Lys33Arg Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Met316Val Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Met342Lys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Met370Ile Uncertain significance Single submitter
CHRNB1 p.Met8Arg Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe169Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe237Val Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Phe267Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe290Ser Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Phe399Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro143His Uncertain significance Single submitter
CHRNB1 p.Pro143Leu Uncertain significance Single submitter
CHRNB1 p.Pro143Thr Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro19Gln Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro221Arg Uncertain significance Single submitter
CHRNB1 p.Pro224Thr Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro245Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro270Thr Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro343Leu Uncertain significance Single submitter
CHRNB1 p.Pro355Gln Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Pro355Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro363Thr Uncertain significance Single submitter
congenital myasthenic syndrome 4C

Predictors split 51

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

CHRNB1 p.Arg347Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Asp136Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Ile281Met Uncertain significance Multiple submitters
CHRNB1 p.Leu9Pro Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Met313Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Phe321Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHRNB1 p.Pro92Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 2A
CHRNB1 p.Val289Met Pathogenic Multiple submitters
congenital myasthenic syndrome 2C
CHRNB1 p.Ala444Gly Uncertain significance Single submitter
CHRNB1 p.Arg102Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg148Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2C
CHRNB1 p.Arg242His Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg393Gly Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg393Trp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Arg434Trp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp175His Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Asp468Glu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp96Asn Uncertain significance Single submitter
CHRNB1 p.Asp96His Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Asp96Tyr Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu275Gln Uncertain significance Single submitter
CHRNB1 p.Glu300Asp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu72Asp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Glu72Lys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Gly97Ser Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.His212Arg Uncertain significance Single submitter
CHRNB1 p.Ile264Thr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Leu13Pro Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Leu258Phe Uncertain significance Single submitter
congenital myasthenic syndrome 2C
CHRNB1 p.Leu287Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Met277Ile Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Met313Ile Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Met316Thr Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Met342Ile Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Met465Thr Conflicting Single submitter
congenital myasthenic syndrome 4C
CHRNB1 p.Phe265Val Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe391Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Phe399Leu Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro337Ser Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro355Ser Conflicting Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Pro431Ser Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ser36Cys Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Ser438Phe Uncertain significance Single submitter
Inborn genetic diseases
CHRNB1 p.Tyr172Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Tyr78Cys Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val125Met Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val252Phe Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val319Ile Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val436Asp Uncertain significance Single submitter
congenital myasthenic syndrome 2A
CHRNB1 p.Val56Ala Conflicting Single submitter
congenital myasthenic syndrome 4C
CHRNB1 p.Val77Leu Uncertain significance Single submitter

All CHRNB1 variants

Pathogenic 14

p.Val289Met Multiple submitters congenital myasthenic syndrome 2C ⚠
p.Ala254fs Single submitter congenital myasthenic syndrome 2A
p.Arg216fs Single submitter
p.Asp368fs Single submitter congenital myasthenic syndrome 2A
p.Asp99fs Single submitter
p.Glu449_Glu451del Single submitter congenital myasthenic syndrome 2A
p.Ile203fs Single submitter congenital myasthenic syndrome 2A
p.Ile307fs Single submitter
p.Leu285Met Single submitter congenital myasthenic syndrome 2A
p.Leu358fs Single submitter congenital myasthenic syndrome 2A
p.Thr288fs Single submitter congenital myasthenic syndrome 2A
p.Trp90Ter Single submitter congenital myasthenic syndrome 2A
p.Val289Ala Single submitter congenital myasthenic syndrome 2A
c.821_1044del No assertion criteria congenital myasthenic syndrome 2C

Pathogenic/Likely pathogenic 3

p.Ala295fs Multiple submitters congenital myasthenic syndrome 2A
p.Arg243Cys Multiple submitters congenital myasthenic syndrome 2C
p.Glu275Ter Multiple submitters congenital myasthenic syndrome 2A

Likely pathogenic 16

c.1044+1G>A Single submitter CHRNB1-related disorder
c.353+1del Single submitter congenital myasthenic syndrome 2A
c.353+2T>C Single submitter
c.354-1G>A Single submitter congenital myasthenic syndrome 2A
c.610+1G>A Single submitter congenital myasthenic syndrome 2A
c.611-1G>C Single submitter congenital myasthenic syndrome 2A
c.757_820+135del Single submitter congenital myasthenic syndrome 2A
p.Ala15fs Single submitter
p.Gln182Ter Single submitter congenital myasthenic syndrome 2C
p.Gly230fs Single submitter congenital myasthenic syndrome 2A
p.Ile146fs Single submitter
p.Leu285Pro Single submitter congenital myasthenic syndrome 2A
p.Leu58fs Single submitter Autosomal recessive CHRNB1-related disorders
p.Ser135fs Single submitter
p.Thr479fs Single submitter congenital myasthenic syndrome 2C
p.Tyr357Ter Single submitter congenital myasthenic syndrome 2A

Conflicting classifications of pathogenicity 34

c.1044+9G>A Single submitter congenital myasthenic syndrome 4C
c.1218-9_1218-7del Single submitter congenital myasthenic syndrome 2A
c.198+15G>A Single submitter congenital myasthenic syndrome 4C
c.199-2A>C Single submitter congenital myasthenic syndrome 2A
c.58+1G>A Single submitter CHRNB1-related disorder
c.611-9C>G Single submitter congenital myasthenic syndrome 2A
c.*18C>T Single submitter congenital myasthenic syndrome 4C
p.Arg102Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg216Gln Single submitter Inborn genetic diseases ⚠
p.Arg242His Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg335= Single submitter congenital myasthenic syndrome 2A
p.Asp188= Single submitter congenital myasthenic syndrome 2A
p.Cys376Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly189Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly191Glu Single submitter Inborn genetic diseases ⚠
p.His198Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile240= Single submitter congenital myasthenic syndrome 2A
p.Leu79Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Met1Val Single submitter congenital myasthenic syndrome 2A
p.Met465Thr Single submitter congenital myasthenic syndrome 4C ⚠
p.Phe475Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro343Thr Single submitter Inborn genetic diseases ⚠
p.Pro355Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro409Ala Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro423Gln Single submitter congenital myasthenic syndrome 4C ⚠
p.Pro431fs Single submitter congenital myasthenic syndrome 2A
p.Ser177= Single submitter congenital myasthenic syndrome 2A
p.Ser441Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Thr301= Single submitter congenital myasthenic syndrome 2A
p.Trp83Ter Single submitter CHRNB1-related disorder
p.Tyr172Ter Single submitter congenital myasthenic syndrome 2A
p.Val114= Single submitter congenital myasthenic syndrome 2A
p.Val252Ile Single submitter Inborn genetic diseases ⚠
p.Val56Ala Single submitter congenital myasthenic syndrome 4C ⚠

Benign 46

c.1044+25C>A Multiple submitters
c.1045-83C>T Multiple submitters
c.1217+155G>A Multiple submitters
c.1217+28G>A Multiple submitters congenital myasthenic syndrome 2A
c.1217+86T>C Multiple submitters
c.1365+97T>G Multiple submitters
c.198+36G>T Multiple submitters
c.243+214C>G Multiple submitters
c.243+222G>C Multiple submitters
c.243+224G>C Multiple submitters
c.243+228G>C Multiple submitters
c.244-102C>A Multiple submitters
c.462+74G>A Multiple submitters congenital myasthenic syndrome 2A
c.611-62A>G Multiple submitters
c.820+115C>T Multiple submitters
c.821-9C>T Multiple submitters congenital myasthenic syndrome 2A
c.*281T>C Multiple submitters congenital myasthenic syndrome 4C
c.*68T>C Multiple submitters congenital myasthenic syndrome 4C
p.Ile420Thr Multiple submitters congenital myasthenic syndrome 2A
c.1044+161C>G Single submitter
c.1217+10C>G Single submitter congenital myasthenic syndrome 2A
c.1365+105dup Single submitter
c.1365+120_1365+131del Single submitter
c.1365+128_1365+131dup Single submitter
c.1365+129_1365+131dup Single submitter
c.1365+130_1365+131dup Single submitter
c.1365+297G>C Single submitter
c.1366-107T>G Single submitter
c.1366-145G>A Single submitter
c.243+19del Single submitter congenital myasthenic syndrome 2A
c.243+214_243+215del Single submitter
c.243+214_243+217del Single submitter
c.243+214_243+219del Single submitter
c.243+214_243+223del Single submitter
c.243+214_243+229del Single submitter
c.243+214_243+231del Single submitter
c.243+214_243+233del Single submitter
c.243+217_243+218insCT Single submitter
c.243+221_243+222insCT Single submitter
c.610+268G>A Single submitter
c.611-154C>T Single submitter
c.821-205A>G Single submitter
c.*287C>T Single submitter congenital myasthenic syndrome 4C
c.*433A>G Single submitter congenital myasthenic syndrome 4C
c.*733G>A Single submitter
c.*755A>C Single submitter congenital myasthenic syndrome 4C

Benign/Likely benign 12

c.1044+20C>T Multiple submitters congenital myasthenic syndrome 2A
c.1045-6C>G Multiple submitters congenital myasthenic syndrome 2A
c.1217+9A>G Multiple submitters congenital myasthenic syndrome 2A
c.1365+17T>C Multiple submitters congenital myasthenic syndrome 2A
c.243+14A>G Multiple submitters congenital myasthenic syndrome 4C
c.610+6T>C Multiple submitters congenital myasthenic syndrome 4C
c.611-9C>T Multiple submitters congenital myasthenic syndrome 2A
c.821-16C>G Multiple submitters congenital myasthenic syndrome 2A
c.821-20C>T Multiple submitters congenital myasthenic syndrome 2A
p.Glu32Gly Multiple submitters congenital myasthenic syndrome 4C
p.Gly28= Multiple submitters congenital myasthenic syndrome 2A
p.His453= Multiple submitters congenital myasthenic syndrome 2A

Likely benign 158

c.1218-46A>G Multiple submitters
c.243+218G>C Multiple submitters
c.243+220G>C Multiple submitters
c.243+226G>C Multiple submitters
c.243+259T>A Multiple submitters
c.820+56T>C Multiple submitters
c.-13G>C Multiple submitters congenital myasthenic syndrome 4C
p.Ala61= Multiple submitters congenital myasthenic syndrome 2A
p.Gly384= Multiple submitters congenital myasthenic syndrome 2A
p.Ile257= Multiple submitters congenital myasthenic syndrome 2A
p.Leu17= Multiple submitters congenital myasthenic syndrome 2A
p.Leu30= Multiple submitters congenital myasthenic syndrome 2A
p.Tyr492= Multiple submitters congenital myasthenic syndrome 2A
c.1044+12CTC[2] Single submitter congenital myasthenic syndrome 2A
c.1044+14C>T Single submitter congenital myasthenic syndrome 2A
c.1044+7_1044+10del Single submitter congenital myasthenic syndrome 2A
c.1045-10T>C Single submitter congenital myasthenic syndrome 2A
c.1045-11C>G Single submitter congenital myasthenic syndrome 2A
c.1045-16C>T Single submitter congenital myasthenic syndrome 2A
c.1045-19_1045-18insTAT Single submitter congenital myasthenic syndrome 2A
c.1045-19C>T Single submitter
c.1217+10C>T Single submitter congenital myasthenic syndrome 2A
c.1217+11G>A Single submitter congenital myasthenic syndrome 2A
c.1217+14C>T Single submitter
c.1218-10C>T Single submitter congenital myasthenic syndrome 2A
c.1218-15T>C Single submitter congenital myasthenic syndrome 2A
c.1218-7C>T Single submitter congenital myasthenic syndrome 2A
c.1218-9C>A Single submitter
c.1365+10A>G Single submitter congenital myasthenic syndrome 2A
c.1365+14G>C Single submitter
c.1365+16G>T Single submitter congenital myasthenic syndrome 2A
c.1365+18G>A Single submitter congenital myasthenic syndrome 2A
c.198+10C>G Single submitter congenital myasthenic syndrome 2A
c.198+14G>C Single submitter congenital myasthenic syndrome 2A
c.198+14G>T Single submitter congenital myasthenic syndrome 2A
c.198+15G>C Single submitter congenital myasthenic syndrome 2A
c.198+15G>T Single submitter congenital myasthenic syndrome 2A
c.198+17G>C Single submitter congenital myasthenic syndrome 2A
c.198+18G>T Single submitter congenital myasthenic syndrome 2A
c.198+7G>T Single submitter congenital myasthenic syndrome 2A
c.198+9G>T Single submitter congenital myasthenic syndrome 2A
c.199-13T>G Single submitter congenital myasthenic syndrome 2A
c.199-8C>G Single submitter congenital myasthenic syndrome 2A
c.199-9C>T Single submitter congenital myasthenic syndrome 2A
c.243+214_243+227del Single submitter
c.243+214_243+235del Single submitter
c.243+215TG[24] Single submitter
c.243+215TG[25] Single submitter
c.243+215TG[26] Single submitter
c.243+221_243+222insCTGT Single submitter
c.243+223_243+224insCTGT Single submitter
c.243+9A>C Single submitter congenital myasthenic syndrome 2A
c.244-104G>A Single submitter
c.244-14C>G Single submitter congenital myasthenic syndrome 2A
c.244-20C>T Single submitter congenital myasthenic syndrome 2A
c.353+12T>C Single submitter
c.354-10T>C Single submitter congenital myasthenic syndrome 2A
c.354-6C>G Single submitter congenital myasthenic syndrome 2A
c.354-8C>G Single submitter congenital myasthenic syndrome 2A
c.462+13del Single submitter congenital myasthenic syndrome 2A
c.462+20G>A Single submitter congenital myasthenic syndrome 2A
c.462+7G>A Single submitter congenital myasthenic syndrome 2A
c.463-17C>T Single submitter
c.58+11G>T Single submitter congenital myasthenic syndrome 2A
c.58+12C>A Single submitter congenital myasthenic syndrome 2A
c.58+15C>G Single submitter congenital myasthenic syndrome 2A
c.58+20G>A Single submitter congenital myasthenic syndrome 2A
c.59-14C>T Single submitter congenital myasthenic syndrome 2A
c.59-16T>C Single submitter congenital myasthenic syndrome 2A
c.59-7C>T Single submitter
c.610+13G>T Single submitter congenital myasthenic syndrome 2A
c.610+16T>C Single submitter congenital myasthenic syndrome 2A
c.611-15_611-13del Single submitter congenital myasthenic syndrome 2A
c.611-28G>T Single submitter
c.611-5C>T Single submitter congenital myasthenic syndrome 2A
c.611-6C>T Single submitter congenital myasthenic syndrome 2A
c.820+13G>C Single submitter congenital myasthenic syndrome 2A
c.820+16G>T Single submitter congenital myasthenic syndrome 2A
c.821-14C>T Single submitter congenital myasthenic syndrome 2A
c.821-4C>A Single submitter congenital myasthenic syndrome 2A
c.-1T>C Single submitter
p.Ala105= Single submitter congenital myasthenic syndrome 2A
p.Ala18= Single submitter congenital myasthenic syndrome 2A
p.Ala26= Single submitter congenital myasthenic syndrome 2A
p.Arg102= Single submitter congenital myasthenic syndrome 2A
p.Arg225= Single submitter congenital myasthenic syndrome 2A
p.Arg228= Single submitter congenital myasthenic syndrome 2A
p.Arg242= Single submitter congenital myasthenic syndrome 2A
p.Arg417= Single submitter congenital myasthenic syndrome 2A
p.Arg43= Single submitter congenital myasthenic syndrome 2A
p.Arg53Gly Single submitter Inborn genetic diseases
p.Asn251= Single submitter congenital myasthenic syndrome 2A
p.Asn331= Single submitter congenital myasthenic syndrome 2A
p.Asp112= Single submitter congenital myasthenic syndrome 2A
p.Asp124= Single submitter congenital myasthenic syndrome 2A
p.Asp136= Single submitter congenital myasthenic syndrome 2A
p.Asp388= Single submitter congenital myasthenic syndrome 2A
p.Asp454= Single submitter congenital myasthenic syndrome 2A
p.Asp489= Single submitter congenital myasthenic syndrome 2A
p.Gln408= Single submitter congenital myasthenic syndrome 2A
p.Glu204= Single submitter congenital myasthenic syndrome 2A
p.Glu229= Single submitter congenital myasthenic syndrome 2A
p.Glu372= Single submitter congenital myasthenic syndrome 2A
p.Gly145= Single submitter congenital myasthenic syndrome 2A
p.Gly222= Single submitter congenital myasthenic syndrome 2A
p.Gly227= Single submitter congenital myasthenic syndrome 2A
p.Gly278= Single submitter congenital myasthenic syndrome 2A
p.Ile129= Single submitter congenital myasthenic syndrome 2A
p.Ile236= Single submitter congenital myasthenic syndrome 2A
p.Ile241= Single submitter congenital myasthenic syndrome 2A
p.Ile324= Single submitter congenital myasthenic syndrome 2A
p.Ile443= Single submitter congenital myasthenic syndrome 2A
p.Ile64= Single submitter congenital myasthenic syndrome 2A
p.Leu101= Single submitter congenital myasthenic syndrome 2A
p.Leu110= Single submitter congenital myasthenic syndrome 2A
p.Leu249= Single submitter congenital myasthenic syndrome 2A
p.Leu262= Single submitter congenital myasthenic syndrome 2A
p.Leu284= Single submitter congenital myasthenic syndrome 2A
p.Leu293= Single submitter congenital myasthenic syndrome 2A
p.Leu303= Single submitter congenital myasthenic syndrome 2A
p.Leu354= Single submitter congenital myasthenic syndrome 2A
p.Leu356= Single submitter congenital myasthenic syndrome 2A
p.Leu358= Single submitter congenital myasthenic syndrome 2A
p.Leu416= Single submitter congenital myasthenic syndrome 2A
p.Leu429= Single submitter congenital myasthenic syndrome 2A
p.Leu470= Single submitter congenital myasthenic syndrome 2A
p.Leu58= Single submitter congenital myasthenic syndrome 2A
p.Leu63= Single submitter congenital myasthenic syndrome 2A
p.Leu7= Single submitter congenital myasthenic syndrome 2A
p.Lys310= Single submitter congenital myasthenic syndrome 2A
p.Phe160= Single submitter congenital myasthenic syndrome 2A
p.Phe265= Single submitter congenital myasthenic syndrome 2A
p.Phe419= Single submitter congenital myasthenic syndrome 2A
p.Pro143= Single submitter congenital myasthenic syndrome 2A
p.Pro144= Single submitter congenital myasthenic syndrome 2A
p.Pro159= Single submitter congenital myasthenic syndrome 2A
p.Pro221= Single submitter congenital myasthenic syndrome 2A
p.Pro224= Single submitter congenital myasthenic syndrome 2A
p.Pro3= Single submitter congenital myasthenic syndrome 2A
p.Pro379= Single submitter congenital myasthenic syndrome 2A
p.Pro44= Single submitter congenital myasthenic syndrome 2A
p.Pro499= Single submitter congenital myasthenic syndrome 2A
p.Ser100= Single submitter congenital myasthenic syndrome 2A
p.Ser107= Single submitter congenital myasthenic syndrome 2A
p.Ser171= Single submitter congenital myasthenic syndrome 2A
p.Ser176= Single submitter
p.Ser438= Single submitter congenital myasthenic syndrome 2A
p.Thr104= Single submitter congenital myasthenic syndrome 2A
p.Thr479= Single submitter congenital myasthenic syndrome 2A
p.Tyr147= Single submitter congenital myasthenic syndrome 2A
p.Tyr172= Single submitter congenital myasthenic syndrome 2A
p.Tyr238= Single submitter congenital myasthenic syndrome 2A
p.Val133= Single submitter congenital myasthenic syndrome 2A
p.Val179= Single submitter congenital myasthenic syndrome 2A
p.Val21= Single submitter
p.Val252= Single submitter congenital myasthenic syndrome 2A
p.Val327= Single submitter congenital myasthenic syndrome 2A
p.Val463= Single submitter congenital myasthenic syndrome 2A

Uncertain significance 305

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

c.1218-3C>T Multiple submitters congenital myasthenic syndrome 2A
c.1365+5G>C Multiple submitters congenital myasthenic syndrome 2A
c.*512C>T Multiple submitters congenital myasthenic syndrome 4C
p.Ala105Val Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ala15Val Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ala18Gly Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ala455Glu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ala45Thr Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ala5Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg140His Multiple submitters Inborn genetic diseases ⚠
p.Arg140Leu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Arg216Trp Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Arg232Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg242Cys Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Arg243His Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Arg347Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg347His Multiple submitters Inborn genetic diseases ⚠
p.Arg469Cys Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Arg469Leu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Asn122His Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Asp136Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp161Asn Multiple submitters congenital myasthenic syndrome 4C ⚠
p.Asp223Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp39del Multiple submitters congenital myasthenic syndrome 2A
p.Asp452Gly Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Asp80Glu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Cys256Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln450Glu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Glu94Gly Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Gly14_Pro16del Multiple submitters congenital myasthenic syndrome 2A
p.Gly200Arg Multiple submitters Inborn genetic diseases
p.Gly227Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly230Glu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Gly380Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly382= Multiple submitters congenital myasthenic syndrome 2A
p.Ile103Met Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ile129Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile281Met Multiple submitters ⚠
p.Leu101Pro Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Leu239Phe Multiple submitters Inborn genetic diseases
p.Leu332Arg Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Leu332Pro Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Leu360Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu63Val Multiple submitters congenital myasthenic syndrome 2A
p.Leu9Pro Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Met167Thr Multiple submitters Inborn genetic diseases ⚠
p.Met167Val Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Met313Thr Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Phe158Leu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Phe321Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro92Leu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ser177Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser24Leu Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Ser65Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser74Ile Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Thr2Ile Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Thr320Asn Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Thr320Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr339Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr483Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr491Lys Multiple submitters Inborn genetic diseases ⚠
p.Trp162Ser Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Trp345Gly Multiple submitters Inborn genetic diseases ⚠
p.Val114Met Multiple submitters Inborn genetic diseases ⚠
p.Val133Ala Multiple submitters congenital myasthenic syndrome 2A
p.Val21Gly Multiple submitters Inborn genetic diseases ⚠
p.Val21Ile Multiple submitters Inborn genetic diseases ⚠
p.Val266Ile Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Val305Gly Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Val319Ala Multiple submitters congenital myasthenic syndrome 2A ⚠
p.Val328Ala Multiple submitters Inborn genetic diseases ⚠
p.Val328Met Multiple submitters Inborn genetic diseases ⚠
p.Val436Phe Multiple submitters Inborn genetic diseases
p.Val77Met Multiple submitters congenital myasthenic syndrome 2A ⚠
c.1045-3C>A Single submitter
c.1217+15G>T Single submitter congenital myasthenic syndrome 2A
c.1365+5del Single submitter congenital myasthenic syndrome 2A
c.198+3G>T Single submitter congenital myasthenic syndrome 2A
c.198+6G>A Single submitter congenital myasthenic syndrome 2A
c.198+8C>T Single submitter congenital myasthenic syndrome 2A
c.243+18G>T Single submitter congenital myasthenic syndrome 2A
c.243+4T>A Single submitter congenital myasthenic syndrome 2A
c.353+5_353+7del Single submitter congenital myasthenic syndrome 2A
c.354-3C>T Single submitter congenital myasthenic syndrome 4C
c.462+6C>T Single submitter congenital myasthenic syndrome 2A
c.58+1G>C Single submitter
c.58+4A>G Single submitter congenital myasthenic syndrome 2A
c.59-3_60dup Single submitter congenital myasthenic syndrome 2A
c.59-3C>T Single submitter congenital myasthenic syndrome 2A
c.-19C>T Single submitter congenital myasthenic syndrome 4C
c.*120G>A Single submitter congenital myasthenic syndrome 4C
c.*136T>C Single submitter congenital myasthenic syndrome 4C
c.*31C>T Single submitter congenital myasthenic syndrome 4C
c.*343C>T Single submitter congenital myasthenic syndrome 4C
c.*369C>T Single submitter congenital myasthenic syndrome 4C
c.*403C>G Single submitter congenital myasthenic syndrome 4C
c.*701G>A Single submitter congenital myasthenic syndrome 4C
c.*71C>T Single submitter congenital myasthenic syndrome 4C
c.*749C>T Single submitter congenital myasthenic syndrome 4C
c.*765G>A Single submitter congenital myasthenic syndrome 4C
c.*775A>C Single submitter congenital myasthenic syndrome 4C
c.*778C>T Single submitter congenital myasthenic syndrome 4C
c.*79G>A Single submitter congenital myasthenic syndrome 4C
c.*843G>C Single submitter congenital myasthenic syndrome 4C
p.10LGA[1] Single submitter congenital myasthenic syndrome 2A
p.Ala15_Pro16insLeuGlyAla Single submitter congenital myasthenic syndrome 2A
p.Ala15Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Ala413Pro Single submitter Inborn genetic diseases ⚠
p.Ala444Gly Single submitter ⚠
p.Ala455Gly Single submitter Inborn genetic diseases ⚠
p.Ala490Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Ala93Glu Single submitter congenital myasthenic syndrome 2A ⚠
p.Ala93Gly Single submitter congenital myasthenic syndrome 4C ⚠
p.Arg102Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg102Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg148Cys Single submitter congenital myasthenic syndrome 2C ⚠
p.Arg148His Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg216Gly Single submitter Inborn genetic diseases
p.Arg216Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg225Gly Single submitter Inborn genetic diseases ⚠
p.Arg232His Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg232Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg242Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg29Pro Single submitter congenital myasthenic syndrome 2A
p.Arg31Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg335Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg335Gly Single submitter Inborn genetic diseases ⚠
p.Arg335His Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg385Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg385Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg393fs Single submitter
p.Arg393Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg393Trp Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg425Gln Single submitter Inborn genetic diseases ⚠
p.Arg434Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg434Trp Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg43Gly Single submitter Inborn genetic diseases ⚠
p.Arg469His Single submitter congenital myasthenic syndrome 2A ⚠
p.Arg46Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Asn118= Single submitter congenital myasthenic syndrome 2A
p.Asn205Asp Single submitter ⚠
p.Asp124Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp136Tyr Single submitter congenital myasthenic syndrome 2A
p.Asp161Tyr Single submitter Inborn genetic diseases ⚠
p.Asp175Asn Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp175His Single submitter Inborn genetic diseases ⚠
p.Asp223= Single submitter congenital myasthenic syndrome 4C
p.Asp368His Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp388Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp388Tyr Single submitter congenital myasthenic syndrome 2A
p.Asp415_Leu416delinsGluSer Single submitter congenital myasthenic syndrome 2A
p.Asp459Gly Single submitter Inborn genetic diseases ⚠
p.Asp468Glu Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp50Tyr Single submitter ⚠
p.Asp91Asn Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp96Asn Single submitter ⚠
p.Asp96Glu Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp96His Single submitter congenital myasthenic syndrome 2A ⚠
p.Asp96Tyr Single submitter congenital myasthenic syndrome 2A ⚠
p.Gln193Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gln207= Single submitter
p.Gln450Lys Single submitter congenital myasthenic syndrome 4C ⚠
p.Gln62Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu106Val Single submitter
p.Glu178Gln Single submitter congenital myasthenic syndrome 2A
p.Glu229Lys Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu234Asp Single submitter ⚠
p.Glu275Asp Single submitter ⚠
p.Glu275Gln Single submitter ⚠
p.Glu300Asp Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu300Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu366Lys Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu68Lys Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu72Asp Single submitter congenital myasthenic syndrome 2A ⚠
p.Glu72Lys Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly11Arg Single submitter congenital myasthenic syndrome 2A
p.Gly121Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly145Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly186Asp Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly20Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly227Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly230dup Single submitter congenital myasthenic syndrome 2A
p.Gly23Ser Single submitter Inborn genetic diseases ⚠
p.Gly28Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly384Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly49Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Gly97Glu Single submitter congenital myasthenic syndrome 2A
p.Gly97Ser Single submitter Inborn genetic diseases ⚠
p.His198Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.His212Arg Single submitter ⚠
p.His340Pro Single submitter Inborn genetic diseases ⚠
p.Ile203Thr Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile211Thr Single submitter Inborn genetic diseases ⚠
p.Ile211Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile236Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile240Asn Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile259Phe Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile264Thr Single submitter Inborn genetic diseases ⚠
p.Ile264Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile281Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Ile324Asn Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu101Phe Single submitter congenital myasthenic syndrome 2A
p.Leu115Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu116Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu13Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu258Phe Single submitter congenital myasthenic syndrome 2C ⚠
p.Leu262Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu287Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu291Pro Single submitter ⚠
p.Leu400Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu494Phe Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu494Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Leu58Phe Single submitter congenital myasthenic syndrome 2A
p.Leu66Arg Single submitter Inborn genetic diseases ⚠
p.Leu81Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Lys244fs Single submitter congenital myasthenic syndrome 2A
p.Lys33Arg Single submitter Inborn genetic diseases ⚠
p.Met277Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Met313Ile Single submitter Inborn genetic diseases ⚠
p.Met316Thr Single submitter Inborn genetic diseases ⚠
p.Met316Val Single submitter Inborn genetic diseases ⚠
p.Met342Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Met342Lys Single submitter congenital myasthenic syndrome 2A ⚠
p.Met370Ile Single submitter ⚠
p.Met8Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe169Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe237Val Single submitter Inborn genetic diseases ⚠
p.Phe265Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe267Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe290Ser Single submitter Inborn genetic diseases ⚠
p.Phe391Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe399Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Phe399Val Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro143His Single submitter ⚠
p.Pro143Leu Single submitter ⚠
p.Pro143Thr Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro19Gln Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro221Arg Single submitter ⚠
p.Pro224Thr Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro245Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro270Thr Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro337Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro343Leu Single submitter ⚠
p.Pro355Gln Single submitter Inborn genetic diseases ⚠
p.Pro355Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro363Thr Single submitter congenital myasthenic syndrome 4C ⚠
p.Pro365Ser Single submitter Inborn genetic diseases ⚠
p.Pro371Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro402Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro404Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro414_Asp415insGluLeuSerAlaPro Single submitter congenital myasthenic syndrome 2A
p.Pro423Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Pro431Ser Single submitter Inborn genetic diseases ⚠
p.Pro501Arg Single submitter Inborn genetic diseases ⚠
p.Pro501fs Single submitter congenital myasthenic syndrome 2A
p.Ser100Leu Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser130Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser135Phe Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser150Thr Single submitter Inborn genetic diseases ⚠
p.Ser171Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser171Phe Single submitter ⚠
p.Ser36Cys Single submitter Inborn genetic diseases ⚠
p.Ser397Gly Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser412Pro Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser438Phe Single submitter Inborn genetic diseases ⚠
p.Ser441Asn Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser55Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Ser65Ile Single submitter ⚠
p.Thr104Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Thr301Ala Single submitter congenital myasthenic syndrome 2A ⚠
p.Thr320Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Thr474Ala Single submitter congenital myasthenic syndrome 2A ⚠
p.Thr479Ser Single submitter ⚠
p.Thr491Met Single submitter congenital myasthenic syndrome 2A ⚠
p.Trp109Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Trp383Arg Single submitter congenital myasthenic syndrome 2A ⚠
p.Trp460Ser Single submitter congenital myasthenic syndrome 2A ⚠
p.Trp460Ter Single submitter congenital myasthenic syndrome 2A
p.Trp473Ter Single submitter congenital myasthenic syndrome 2A
p.Tyr147Asp Single submitter Inborn genetic diseases ⚠
p.Tyr147Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Tyr172Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Tyr38Phe Single submitter Inborn genetic diseases ⚠
p.Tyr78Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Tyr86Cys Single submitter congenital myasthenic syndrome 2A ⚠
p.Val125Met Single submitter congenital myasthenic syndrome 2A ⚠
p.Val133Leu Single submitter Inborn genetic diseases
p.Val168= Single submitter congenital myasthenic syndrome 2A
p.Val252Asp Single submitter ⚠
p.Val252Phe Single submitter congenital myasthenic syndrome 2A ⚠
p.Val317Asp Single submitter ⚠
p.Val319Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Val327Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Val427Met Single submitter congenital myasthenic syndrome 2A ⚠
p.Val436Asp Single submitter congenital myasthenic syndrome 2A ⚠
p.Val466Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Val48= Single submitter congenital myasthenic syndrome 2A
p.Val481Phe Single submitter congenital myasthenic syndrome 2A ⚠
p.Val485Ile Single submitter congenital myasthenic syndrome 2A ⚠
p.Val48Met Single submitter ⚠