COLQ — 632 ClinVar variants
All ClinVar germline COLQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →
55 Pathogenic · 16 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 17 Conflicting · 66 Benign · 6 Benign/Likely benign · 187 Likely benign · 239 Uncertain significance
Full COLQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 201
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
COLQ p.Arg410Gln
Pathogenic
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg410Trp
Pathogenic/Likely pathogenic
Multiple submitters
congenital myasthenic syndrome
-
COLQ p.Pro59Ser
Pathogenic/Likely pathogenic
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Gly272Glu
Pathogenic
Single submitter
Synaptic congenital myasthenic syndromes
-
COLQ p.Pro59Gln
Pathogenic
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg399His
Pathogenic
No assertion criteria
congenital myasthenic syndrome 5
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COLQ p.Ala369Val
Conflicting
Single submitter
Inborn genetic diseases
-
COLQ p.Gly373Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COLQ p.Met7Val
Conflicting
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr8Ser
Conflicting
Single submitter
congenital myasthenic syndrome 5
Predictors lean, ClinVar uncertain 109
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
COLQ p.Ala271Val
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg130Lys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg227Gln
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg262His
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg290Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Arg315Gln
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg71Gln
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Asn81Ser
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Asp392Asn
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Cys405Phe
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Glu306Asp
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Gly147Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gly159Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gly162Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gly195Asp
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Gly286Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gly70Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Ile275Val
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Leu274Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Lys131Glu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Met173Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Phe26Ser
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Pro24Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Pro250Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Pro314Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Pro63Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Pro92Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Ser175Phe
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Ser39Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Ser97Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Thr360Asn
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Tyr363His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Val30Ile
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Ala336Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Ala338Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Ala35Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg344Lys
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg399Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg402Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Arg45His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asn301Lys
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asn81Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asp193Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asp396Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asp418Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys405Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys440Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys440Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys451Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Glu326Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Glu329Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Glu85Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Gly102Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly108Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly132Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly168Trp
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Gly192Ser Uncertain significance Single submitter
-
COLQ p.Gly204Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly207Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly219Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly222Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly225Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Gly225Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly228Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Gly234Arg Uncertain significance Single submitter
-
COLQ p.Gly234Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly264Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Gly305Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly305Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly46Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly47Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.His48Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Ile20Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Ile27Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu13Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu15Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu292Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu438Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu75Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Lys43Arg Uncertain significance Single submitter
-
COLQ p.Met142Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met173Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met215Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Met297Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met79Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met83Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met83Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Met94Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Phe339Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Phe362Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro136Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro24Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro256Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Pro311Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Pro364Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro450Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro6Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Ser257Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Ser34Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Ser39Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Ser72Gly Uncertain significance Single submitter
-
COLQ p.Thr230Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr368Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr455Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Thr55Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Tyr404Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Val21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Val316Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Asp377His
Uncertain significance
No assertion criteria
congenital myasthenic syndrome
Predictors split 82
The independent predictors disagree with each other — read with care.
-
COLQ p.Arg127Gly
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg262Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Arg340Cys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg399Cys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg402His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Arg452His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Arg45Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Asp447Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Cys52Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gln358Glu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Glu190Gly
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Glu385Asp
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Glu428Lys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Gly225Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Gly246Ala
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Gly378Arg
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Ile446Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Pro128Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLQ p.Pro263Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Pro278Arg
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Pro361Ser
Benign/Likely benign
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Thr55Met
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Tyr430Ser
Pathogenic
Multiple submitters
congenital myasthenic syndrome
-
COLQ p.Val21Met
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 5
-
COLQ p.Arg127Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg236Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg340His
Conflicting
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg341Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Arg341Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Arg402Cys Uncertain significance Single submitter
-
COLQ p.Arg452Cys
Conflicting
Single submitter
congenital myasthenic syndrome
-
COLQ p.Arg45Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asn323Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Asn323Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asn324His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asp160Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Asp388Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys291Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys51Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Cys52Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- COLQ p.Gln107His Uncertain significance Single submitter
-
COLQ p.Gln381His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Glu184Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Glu214Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Gly135Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly406Ala
Likely pathogenic
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly413Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Gly419Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Gly96Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.His411Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Leu346Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Leu359Arg
Uncertain significance
Single submitter
Synaptic congenital myasthenic syndromes
-
COLQ p.Lys158Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro104His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro110Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro128Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- COLQ p.Pro136His Uncertain significance Single submitter
-
COLQ p.Pro143His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro151Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro154Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro203Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro221Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro229His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro260Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro265His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Pro265Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro278His
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro287Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro302Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
- COLQ p.Pro317Ala Uncertain significance Single submitter
-
COLQ p.Pro56Leu
Conflicting
Single submitter
Inborn genetic diseases
-
COLQ p.Pro57Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Pro63Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Pro64Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr333Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr374Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr426Lys
Benign
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr441Ala
Conflicting
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr449Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Thr449Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 5
-
COLQ p.Tyr304His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLQ p.Tyr363Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All COLQ variants
Pathogenic 55
- c.1195+1G>A Multiple submitters congenital myasthenic syndrome 5
- c.1298+3A>G Multiple submitters congenital myasthenic syndrome
- c.219+1G>C Multiple submitters congenital myasthenic syndrome 5
- c.393+1G>A Multiple submitters congenital myasthenic syndrome
- p.Arg227Ter Multiple submitters Synaptic congenital myasthenic syndromes
- p.Arg282Ter Multiple submitters congenital myasthenic syndrome 5
- p.Arg315Ter Multiple submitters Synaptic congenital myasthenic syndromes
- p.Arg410Gln Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Asn298fs Multiple submitters congenital myasthenic syndrome 5
- p.Asn81fs Multiple submitters congenital myasthenic syndrome 5
- p.Gln211Ter Multiple submitters congenital myasthenic syndrome 5
- p.Glu214Ter Multiple submitters congenital myasthenic syndrome 5
- p.Gly126fs Multiple submitters congenital myasthenic syndrome 5
- p.Gly198fs Multiple submitters congenital myasthenic syndrome 5
- p.Gly234Ter Multiple submitters congenital myasthenic syndrome 5
- p.Leu53fs Multiple submitters congenital myasthenic syndrome 5
- p.Pro265fs Multiple submitters congenital myasthenic syndrome 5
- p.Pro361fs Multiple submitters congenital myasthenic syndrome
- p.Ser169Ter Multiple submitters congenital myasthenic syndrome 5
- p.Tyr430Ser Multiple submitters congenital myasthenic syndrome ⚠
- c.1195+1G>T Single submitter congenital myasthenic syndrome 5
- c.1195+2T>C Single submitter congenital myasthenic syndrome 5
- c.1195+2T>G Single submitter congenital myasthenic syndrome 5
- c.188_321del Single submitter Synaptic congenital myasthenic syndromes
- c.394-1G>A Single submitter congenital myasthenic syndrome 5
- p.Arg236Ter Single submitter congenital myasthenic syndrome 5
- p.Asn335fs Single submitter congenital myasthenic syndrome 5
- p.Cys405fs Single submitter congenital myasthenic syndrome 5
- p.Cys427Ter Single submitter congenital myasthenic syndrome 5
- p.Cys52Ter Single submitter congenital myasthenic syndrome 5
- p.Cys93Ter Single submitter Abnormality of the musculature
- p.Gln371Ter Single submitter congenital myasthenic syndrome 5
- p.Gln95Ter Single submitter
- p.Glu121Ter Single submitter congenital myasthenic syndrome 5
- p.Glu124Ter Single submitter congenital myasthenic syndrome 5
- p.Gly228Ter Single submitter congenital myasthenic syndrome 5
- p.Gly240Ter Single submitter congenital myasthenic syndrome 5
- p.Gly267fs Single submitter congenital myasthenic syndrome 5
- p.Gly272Glu Single submitter Synaptic congenital myasthenic syndromes ⚠
- p.Gly283Ter Single submitter congenital myasthenic syndrome 5
- p.Gly289Ter Single submitter congenital myasthenic syndrome 5
- p.Gly394fs Single submitter congenital myasthenic syndrome 5
- p.Gly436fs Single submitter congenital myasthenic syndrome 5
- p.Ile275fs Single submitter congenital myasthenic syndrome 5
- p.Leu37fs Single submitter congenital myasthenic syndrome 5
- p.Leu40fs Single submitter congenital myasthenic syndrome 5
- p.Leu9fs Single submitter congenital myasthenic syndrome 5
- p.Pro59Gln Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ser257fs Single submitter congenital myasthenic syndrome 5
- p.Ser313fs Single submitter
- p.Trp354Ter Single submitter congenital myasthenic syndrome 5
- c.107_321del No assertion criteria congenital myasthenic syndrome 5
- c.(814+1_815-1 No assertion criteria congenital myasthenic syndrome 5
- p.Arg399His No assertion criteria congenital myasthenic syndrome 5 ⚠
- p.Thr426Ile No assertion criteria congenital myasthenic syndrome 5
Pathogenic/Likely pathogenic 16
- c.220-1G>A Multiple submitters congenital myasthenic syndrome 5
- c.529-2A>G Multiple submitters congenital myasthenic syndrome 5
- c.954+1G>A Multiple submitters congenital myasthenic syndrome 5
- c.955-2A>C Multiple submitters congenital myasthenic syndrome 5
- c.955-2A>T Multiple submitters congenital myasthenic syndrome 5
- p.Arg127Ter Multiple submitters congenital myasthenic syndrome 5
- p.Arg410Trp Multiple submitters congenital myasthenic syndrome ⚠
- p.Asp342Glu Multiple submitters Synaptic congenital myasthenic syndromes
- p.Asp377fs Multiple submitters congenital myasthenic syndrome 5
- p.Cys427= Multiple submitters Synaptic congenital myasthenic syndromes
- p.His409fs Multiple submitters congenital myasthenic syndrome 5
- p.Ile20fs Multiple submitters congenital myasthenic syndrome 5
- p.Leu331fs Multiple submitters congenital myasthenic syndrome
- p.Met276fs Multiple submitters Synaptic congenital myasthenic syndromes
- p.Pro59Ser Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Trp148Ter Multiple submitters congenital myasthenic syndrome 5
Likely pathogenic 46
- c.106+2_106+10del Multiple submitters congenital myasthenic syndrome 5
- c.555+1G>A Multiple submitters congenital myasthenic syndrome 5
- c.718-1276C>T Multiple submitters congenital myasthenic syndrome 5
- c.814+2T>C Multiple submitters congenital myasthenic syndrome 5
- c.107-1G>A Single submitter congenital myasthenic syndrome 5
- c.1196-2A>G Single submitter congenital myasthenic syndrome 5
- c.322-1G>C Single submitter congenital myasthenic syndrome 5
- c.366+1G>C Single submitter congenital myasthenic syndrome 5
- c.366+1G>T Single submitter congenital myasthenic syndrome 5
- c.465+1_465+10del Single submitter congenital myasthenic syndrome 5
- c.466-1G>A Single submitter congenital myasthenic syndrome 5
- c.528+1G>A Single submitter congenital myasthenic syndrome 5
- c.718-1G>A Single submitter congenital myasthenic syndrome 5
- c.718-1G>T Single submitter congenital myasthenic syndrome 5
- c.814+1G>A Single submitter congenital myasthenic syndrome 5
- c.955-1G>C Single submitter congenital myasthenic syndrome 5
- p.Arg71Ter Single submitter Abnormality of the musculature
- p.Asp447Val Single submitter congenital myasthenic syndrome 5
- p.Cys291fs Single submitter congenital myasthenic syndrome
- p.Cys417Tyr Single submitter congenital myasthenic syndrome 5
- p.Cys427Arg Single submitter
- p.Cys444Tyr Single submitter congenital myasthenic syndrome 5
- p.Gln107fs Single submitter congenital myasthenic syndrome 5
- p.Gln107Ter Single submitter congenital myasthenic syndrome 5
- p.Gln14Ter Single submitter congenital myasthenic syndrome 5
- p.Gln42Ter Single submitter congenital myasthenic syndrome 5
- p.Gln90Ter Single submitter congenital myasthenic syndrome 5
- p.Glu415Gly Single submitter congenital myasthenic syndrome 5
- p.Gly186Ter Single submitter congenital myasthenic syndrome 5
- p.Gly406Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly433Glu Single submitter congenital myasthenic syndrome 5
- p.Ile337Thr Single submitter
- p.Leu352fs Single submitter congenital myasthenic syndrome 5
- p.Lys197Ter Single submitter congenital myasthenic syndrome 5
- p.Met83fs Single submitter congenital myasthenic syndrome 5
- p.Phe284fs Single submitter congenital myasthenic syndrome 5
- p.Phe67fs Single submitter congenital myasthenic syndrome 5
- p.Pro32fs Single submitter congenital myasthenic syndrome 5
- p.Pro6_Met7insTer Single submitter congenital myasthenic syndrome 5
- p.Pro63fs Single submitter congenital myasthenic syndrome 5
- p.Ser420fs Single submitter Abnormality of the musculature
- p.Tyr304fs Single submitter Abnormality of the musculature
- p.Tyr363Ter Single submitter Abnormality of the musculature
- p.Val247fs Single submitter congenital myasthenic syndrome 5
- p.Gly406Glu No assertion criteria congenital myasthenic syndrome
- p.Gly413fs No assertion criteria congenital myasthenic syndrome
Conflicting classifications of pathogenicity 17
- c.106+6T>C Single submitter congenital myasthenic syndrome 5
- c.718-9C>T Single submitter congenital myasthenic syndrome 5
- c.814+11C>T Single submitter congenital myasthenic syndrome 5
- p.Ala369Val Single submitter Inborn genetic diseases ⚠
- p.Arg340His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg452Cys Single submitter congenital myasthenic syndrome ⚠
- p.Gly114= Single submitter congenital myasthenic syndrome 5
- p.Gly174= Single submitter congenital myasthenic syndrome 5
- p.Gly373Ser Single submitter Inborn genetic diseases ⚠
- p.Met7Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro314= Single submitter congenital myasthenic syndrome 5
- p.Pro450= Single submitter congenital myasthenic syndrome 5
- p.Pro56Leu Single submitter Inborn genetic diseases ⚠
- p.Ser187= Single submitter congenital myasthenic syndrome 5
- p.Thr441Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr8Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Tyr304= Single submitter congenital myasthenic syndrome 5
Benign 66
- c.107-9004A>C Multiple submitters
- c.107-9329T>G Multiple submitters
- c.1075-82T>C Multiple submitters
- c.1195+81G>T Multiple submitters
- c.1298+35C>A Multiple submitters
- c.321+170A>G Multiple submitters
- c.321+308G>T Multiple submitters
- c.366+7A>G Multiple submitters congenital myasthenic syndrome 5
- c.367-129A>C Multiple submitters
- c.367-167C>A Multiple submitters
- c.393+240G>A Multiple submitters
- c.394-137C>T Multiple submitters
- c.394-185A>G Multiple submitters
- c.394-27C>G Multiple submitters congenital myasthenic syndrome 5
- c.466-214G>A Multiple submitters
- c.466-31C>T Multiple submitters congenital myasthenic syndrome 5
- c.528+112G>A Multiple submitters
- c.528+22A>G Multiple submitters congenital myasthenic syndrome 5
- c.529-23A>G Multiple submitters congenital myasthenic syndrome 5
- c.556-139G>C Multiple submitters
- c.556-15A>G Multiple submitters congenital myasthenic syndrome 5
- c.600+40G>A Multiple submitters congenital myasthenic syndrome 5
- c.637-119G>A Multiple submitters
- c.637-153C>A Multiple submitters
- c.718-1268A>G Multiple submitters
- c.718-1383G>C Multiple submitters congenital myasthenic syndrome 5
- c.814+87C>T Multiple submitters
- c.955-175A>G Multiple submitters
- c.955-186C>T Multiple submitters
- c.955-256C>A Multiple submitters
- c.-46G>A Multiple submitters congenital myasthenic syndrome 5
- c.*1001G>A Multiple submitters congenital myasthenic syndrome 5
- c.*1395C>T Multiple submitters congenital myasthenic syndrome 5
- c.*344C>T Multiple submitters congenital myasthenic syndrome 5
- c.*365A>T Multiple submitters congenital myasthenic syndrome 5
- c.*515C>T Multiple submitters congenital myasthenic syndrome 5
- p.Asp416= Multiple submitters congenital myasthenic syndrome 5
- p.Ser312Gly Multiple submitters congenital myasthenic syndrome 5
- c.106+226A>G Single submitter
- c.106+239G>T Single submitter
- c.107-20C>T Single submitter congenital myasthenic syndrome 5
- c.107-9294_107-9293insTGAC Single submitter
- c.1074+172_1074+203dup Single submitter
- c.1195+145C>T Single submitter
- c.1195+219G>A Single submitter
- c.1196-206A>G Single submitter
- c.1196-216T>C Single submitter
- c.1196-221G>A Single submitter
- c.1196-326C>T Single submitter
- c.1298+34T>A Single submitter
- c.220-187G>A Single submitter
- c.322-16del Single submitter congenital myasthenic syndrome 5
- c.465+257T>C Single submitter
- c.637-243T>C Single submitter
- c.718-1074G>A Single submitter
- c.718-1084T>C Single submitter
- c.718-217_718-216insAGGAC Single submitter
- c.815-1064G>A Single submitter congenital myasthenic syndrome 5
- c.815-2298T>C Single submitter
- c.955-256_955-249del Single submitter
- c.955-339C>T Single submitter
- c.*492G>A Single submitter congenital myasthenic syndrome 5
- c.*994G>A Single submitter congenital myasthenic syndrome 5
- p.Ile146= Single submitter congenital myasthenic syndrome 5
- p.Thr426Lys Single submitter congenital myasthenic syndrome 5 ⚠
- p.Val308Met Single submitter congenital myasthenic syndrome 5
Benign/Likely benign 6
- c.107-19G>A Multiple submitters congenital myasthenic syndrome 5
- c.393+11C>T Multiple submitters congenital myasthenic syndrome 5
- p.Asp370Asn Multiple submitters congenital myasthenic syndrome 5
- p.Pro263= Multiple submitters congenital myasthenic syndrome 5
- p.Pro361Ser Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Ser100= Multiple submitters congenital myasthenic syndrome 5
Likely benign 187
- c.106+196G>A Multiple submitters
- c.107-9263G>C Multiple submitters congenital myasthenic syndrome 5
- c.1196-45C>T Multiple submitters
- c.1299-31G>A Multiple submitters
- c.321+208A>G Multiple submitters
- c.367-140C>G Multiple submitters
- c.367-50G>A Multiple submitters
- c.393+268C>G Multiple submitters
- c.393+37G>A Multiple submitters
- c.394-34C>T Multiple submitters
- c.466-165G>A Multiple submitters
- c.528+131C>T Multiple submitters
- c.600+52G>A Multiple submitters
- c.718-11C>A Multiple submitters congenital myasthenic syndrome 5
- c.815-5C>T Multiple submitters congenital myasthenic syndrome 5
- p.Pro24= Multiple submitters congenital myasthenic syndrome 5
- c.106+11G>A Single submitter congenital myasthenic syndrome 5
- c.106+11G>T Single submitter congenital myasthenic syndrome 5
- c.106+18C>G Single submitter congenital myasthenic syndrome 5
- c.106+7G>C Single submitter congenital myasthenic syndrome 5
- c.106+7G>T Single submitter congenital myasthenic syndrome 5
- c.107-20C>G Single submitter congenital myasthenic syndrome 5
- c.107-272G>A Single submitter
- c.107-4dup Single submitter congenital myasthenic syndrome 5
- c.1195+17C>A Single submitter congenital myasthenic syndrome 5
- c.1195+17C>T Single submitter congenital myasthenic syndrome 5
- c.1195+328G>A Single submitter
- c.1196-15_1196-13del Single submitter congenital myasthenic syndrome 5
- c.1196-16C>T Single submitter congenital myasthenic syndrome 5
- c.1196-17T>A Single submitter congenital myasthenic syndrome 5
- c.1196-19C>A Single submitter congenital myasthenic syndrome 5
- c.1298+190G>A Single submitter
- c.1298+19C>G Single submitter congenital myasthenic syndrome 5
- c.1298+7A>T Single submitter congenital myasthenic syndrome 5
- c.1299-15C>A Single submitter congenital myasthenic syndrome 5
- c.1299-20C>T Single submitter congenital myasthenic syndrome 5
- c.1299-5C>T Single submitter congenital myasthenic syndrome 5
- c.1299-8T>C Single submitter congenital myasthenic syndrome 5
- c.1299-8T>G Single submitter congenital myasthenic syndrome 5
- c.1299-9C>T Single submitter congenital myasthenic syndrome 5
- c.219+11T>C Single submitter congenital myasthenic syndrome 5
- c.220-130G>A Single submitter
- c.220-133G>C Single submitter
- c.220-13C>T Single submitter congenital myasthenic syndrome 5
- c.220-17G>C Single submitter congenital myasthenic syndrome 5
- c.220-19G>A Single submitter congenital myasthenic syndrome 5
- c.220-205T>C Single submitter
- c.321+16C>T Single submitter congenital myasthenic syndrome 5
- c.321+17G>A Single submitter congenital myasthenic syndrome 5
- c.321+18G>C Single submitter congenital myasthenic syndrome 5
- c.321+19A>T Single submitter congenital myasthenic syndrome 5
- c.321+20C>A Single submitter congenital myasthenic syndrome 5
- c.321+27C>T Single submitter
- c.321+7G>A Single submitter congenital myasthenic syndrome 5
- c.321+7G>T Single submitter congenital myasthenic syndrome 5
- c.322-15A>G Single submitter congenital myasthenic syndrome 5
- c.322-19T>C Single submitter congenital myasthenic syndrome 5
- c.322-247C>T Single submitter
- c.366+15T>C Single submitter congenital myasthenic syndrome 5
- c.366+9C>T Single submitter congenital myasthenic syndrome 5
- c.367-10C>T Single submitter congenital myasthenic syndrome 5
- c.367-20C>T Single submitter congenital myasthenic syndrome 5
- c.367-6C>T Single submitter congenital myasthenic syndrome 5
- c.367-9C>T Single submitter
- c.393+12G>A Single submitter congenital myasthenic syndrome 5
- c.393+18C>T Single submitter congenital myasthenic syndrome 5
- c.393+224_393+226del Single submitter
- c.394-19T>C Single submitter congenital myasthenic syndrome 5
- c.465+102C>T Single submitter
- c.465+52A>G Single submitter
- c.465+7G>T Single submitter congenital myasthenic syndrome 5
- c.466-11A>G Single submitter congenital myasthenic syndrome 5
- c.466-14T>C Single submitter congenital myasthenic syndrome 5
- c.466-20TCT[2] Single submitter congenital myasthenic syndrome 5
- c.466-4A>G Single submitter congenital myasthenic syndrome 5
- c.466-5C>T Single submitter congenital myasthenic syndrome 5
- c.528+15C>G Single submitter congenital myasthenic syndrome 5
- c.528+17A>G Single submitter congenital myasthenic syndrome 5
- c.528+18A>G Single submitter congenital myasthenic syndrome 5
- c.528+19T>C Single submitter congenital myasthenic syndrome 5
- c.529-17C>T Single submitter congenital myasthenic syndrome 5
- c.529-18C>A Single submitter congenital myasthenic syndrome 5
- c.529-18C>T Single submitter congenital myasthenic syndrome 5
- c.529-3T>C Single submitter congenital myasthenic syndrome 5
- c.529-4T>G Single submitter congenital myasthenic syndrome 5
- c.555+16G>C Single submitter congenital myasthenic syndrome 5
- c.555+31G>A Single submitter
- c.555+7G>A Single submitter congenital myasthenic syndrome 5
- c.556-15A>T Single submitter congenital myasthenic syndrome 5
- c.556-7T>C Single submitter congenital myasthenic syndrome 5
- c.600+15C>T Single submitter congenital myasthenic syndrome 5
- c.600+18T>C Single submitter congenital myasthenic syndrome 5
- c.600+22T>C Single submitter
- c.601-12C>T Single submitter congenital myasthenic syndrome 5
- c.601-16G>A Single submitter congenital myasthenic syndrome 5
- c.601-18T>C Single submitter congenital myasthenic syndrome 5
- c.601-20A>G Single submitter congenital myasthenic syndrome 5
- c.636+8A>G Single submitter congenital myasthenic syndrome 5
- c.636+9C>A Single submitter congenital myasthenic syndrome 5
- c.637-11C>T Single submitter congenital myasthenic syndrome 5
- c.637-13T>C Single submitter congenital myasthenic syndrome 5
- c.637-19T>A Single submitter congenital myasthenic syndrome 5
- c.637-5T>C Single submitter
- c.717+16C>A Single submitter congenital myasthenic syndrome 5
- c.717+26G>A Single submitter
- c.717+9C>T Single submitter congenital myasthenic syndrome 5
- c.718-1179C>T Single submitter
- c.718-14T>C Single submitter congenital myasthenic syndrome 5
- c.718-17G>A Single submitter congenital myasthenic syndrome 5
- c.718-5G>A Single submitter congenital myasthenic syndrome 5
- c.814+12A>G Single submitter congenital myasthenic syndrome 5
- c.814+12dup Single submitter congenital myasthenic syndrome 5
- c.814+13C>T Single submitter congenital myasthenic syndrome 5
- c.815-1064del Single submitter congenital myasthenic syndrome 5
- c.815-16G>A Single submitter congenital myasthenic syndrome 5
- c.815-243C>T Single submitter
- c.955-18C>T Single submitter congenital myasthenic syndrome 5
- c.955-6T>C Single submitter congenital myasthenic syndrome 5
- c.955-7C>G Single submitter congenital myasthenic syndrome 5
- c.955-9C>T Single submitter congenital myasthenic syndrome 5
- p.Ala403= Single submitter congenital myasthenic syndrome 5
- p.Arg410= Single submitter
- p.Arg45= Single submitter congenital myasthenic syndrome 5
- p.Asn335= Single submitter congenital myasthenic syndrome 5
- p.Asp244= Single submitter
- p.Asp387= Single submitter congenital myasthenic syndrome 5
- p.Asp388= Single submitter congenital myasthenic syndrome 5
- p.Asp395= Single submitter congenital myasthenic syndrome 5
- p.Asp407= Single submitter congenital myasthenic syndrome 5
- p.Asp418= Single submitter congenital myasthenic syndrome 5
- p.Cys400= Single submitter congenital myasthenic syndrome 5
- p.Cys52= Single submitter congenital myasthenic syndrome 5
- p.Gln371= Single submitter congenital myasthenic syndrome 5
- p.Gln439= Single submitter congenital myasthenic syndrome 5
- p.Glu384= Single submitter congenital myasthenic syndrome 5
- p.Gly135= Single submitter congenital myasthenic syndrome 5
- p.Gly144= Single submitter congenital myasthenic syndrome 5
- p.Gly150= Single submitter congenital myasthenic syndrome 5
- p.Gly186= Single submitter congenital myasthenic syndrome 5
- p.Gly207= Single submitter congenital myasthenic syndrome 5
- p.Gly234= Single submitter congenital myasthenic syndrome 5
- p.Gly237= Single submitter congenital myasthenic syndrome 5
- p.Gly243= Single submitter congenital myasthenic syndrome 5
- p.Gly261= Single submitter congenital myasthenic syndrome 5
- p.Gly264= Single submitter congenital myasthenic syndrome 5
- p.Gly286= Single submitter congenital myasthenic syndrome 5
- p.Gly408= Single submitter congenital myasthenic syndrome 5
- p.Gly419= Single submitter congenital myasthenic syndrome 5
- p.Gly433= Single submitter congenital myasthenic syndrome 5
- p.Gly47= Single submitter congenital myasthenic syndrome 5
- p.His372= Single submitter congenital myasthenic syndrome 5
- p.Ile20= Single submitter congenital myasthenic syndrome 5
- p.Ile446= Single submitter congenital myasthenic syndrome 5
- p.Leu18= Single submitter congenital myasthenic syndrome 5
- p.Leu40= Single submitter congenital myasthenic syndrome 5
- p.Leu53= Single submitter congenital myasthenic syndrome 5
- p.Leu82= Single submitter congenital myasthenic syndrome 5
- p.Leu9= Single submitter congenital myasthenic syndrome 5
- p.Leu98= Single submitter congenital myasthenic syndrome 5
- p.Lys119= Single submitter congenital myasthenic syndrome 5
- p.Lys218= Single submitter congenital myasthenic syndrome 5
- p.Lys253= Single submitter congenital myasthenic syndrome 5
- p.Phe339= Single submitter congenital myasthenic syndrome 5
- p.Pro134= Single submitter congenital myasthenic syndrome 5
- p.Pro136= Single submitter congenital myasthenic syndrome 5
- p.Pro140= Single submitter congenital myasthenic syndrome 5
- p.Pro143= Single submitter congenital myasthenic syndrome 5
- p.Pro154= Single submitter congenital myasthenic syndrome 5
- p.Pro256= Single submitter congenital myasthenic syndrome 5
- p.Pro266= Single submitter congenital myasthenic syndrome 5
- p.Pro268= Single submitter congenital myasthenic syndrome 5
- p.Pro270= Single submitter congenital myasthenic syndrome 5
- p.Pro285= Single submitter congenital myasthenic syndrome 5
- p.Pro56= Single submitter congenital myasthenic syndrome 5
- p.Pro60= Single submitter congenital myasthenic syndrome 5
- p.Pro92= Single submitter congenital myasthenic syndrome 5
- p.Ser29= Single submitter congenital myasthenic syndrome 5
- p.Ser97= Single submitter
- p.Thr116= Single submitter congenital myasthenic syndrome 5
- p.Thr333= Single submitter congenital myasthenic syndrome 5
- p.Thr426= Single submitter congenital myasthenic syndrome 5
- p.Thr441= Single submitter congenital myasthenic syndrome 5
- p.Thr449= Single submitter congenital myasthenic syndrome 5
- p.Thr55= Single submitter congenital myasthenic syndrome 5
- p.Tyr363= Single submitter congenital myasthenic syndrome 5
- p.Tyr435= Single submitter congenital myasthenic syndrome 5
- p.Val308= Single submitter congenital myasthenic syndrome 5
Uncertain significance 239
- c.1074+4C>T Multiple submitters congenital myasthenic syndrome 5
- c.367-3T>C Multiple submitters congenital myasthenic syndrome 5
- c.393+3A>G Multiple submitters congenital myasthenic syndrome 5
- c.529-10T>A Multiple submitters congenital myasthenic syndrome 5
- c.717+4A>C Multiple submitters congenital myasthenic syndrome 5
- c.*421G>A Multiple submitters congenital myasthenic syndrome 5
- p.Ala271Val Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg127Gly Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg130Lys Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg227Gln Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg262Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg262His Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg290Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg315Gln Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg340Cys Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg399Cys Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Arg402His Multiple submitters Inborn genetic diseases ⚠
- p.Arg452His Multiple submitters Inborn genetic diseases ⚠
- p.Arg45Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg71Gln Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Asn81Ser Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Asp392Asn Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Asp447Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys405Phe Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Cys52Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln358Glu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Glu190Gly Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Glu306Asp Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Glu385Asp Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Glu428Lys Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Gly147Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly159Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly162Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly195Asp Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Gly225Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly246Ala Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Gly286Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly378Arg Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Gly70Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile275Val Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Ile446Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu274Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys131Glu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Met173Val Multiple submitters Inborn genetic diseases ⚠
- p.Met1Val Multiple submitters congenital myasthenic syndrome 5
- p.Phe26Ser Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Pro128Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro24Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro250Leu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Pro263Leu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Pro278Arg Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Pro314Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro63Leu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Pro92Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser175Phe Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Ser39Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser97Leu Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Thr360Asn Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Thr55Met Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Tyr363His Multiple submitters Inborn genetic diseases ⚠
- p.Val21Met Multiple submitters congenital myasthenic syndrome 5 ⚠
- p.Val30Ile Multiple submitters congenital myasthenic syndrome 5 ⚠
- c.106+5A>G Single submitter congenital myasthenic syndrome 5
- c.107-2dup Single submitter congenital myasthenic syndrome 5
- c.107-8939_107-8938del Single submitter
- c.1075-11T>G Single submitter congenital myasthenic syndrome 5
- c.1298+5G>A Single submitter
- c.465+5G>T Single submitter congenital myasthenic syndrome 5
- c.466-9T>G Single submitter congenital myasthenic syndrome 5
- c.555+1G>T Single submitter congenital myasthenic syndrome 5
- c.555+5G>A Single submitter congenital myasthenic syndrome 5
- c.555+5G>T Single submitter congenital myasthenic syndrome 5
- c.556-4_561del Single submitter congenital myasthenic syndrome 5
- c.636+5_636+8del Single submitter congenital myasthenic syndrome 5
- c.954+6G>A Single submitter congenital myasthenic syndrome 5
- c.-58A>G Single submitter congenital myasthenic syndrome 5
- c.*1084G>A Single submitter congenital myasthenic syndrome 5
- c.*1248C>T Single submitter congenital myasthenic syndrome 5
- c.*1277C>T Single submitter congenital myasthenic syndrome 5
- c.*1280C>T Single submitter congenital myasthenic syndrome 5
- c.*1292T>G Single submitter congenital myasthenic syndrome 5
- c.*1408C>T Single submitter congenital myasthenic syndrome 5
- c.*1490A>C Single submitter congenital myasthenic syndrome 5
- c.*169T>A Single submitter congenital myasthenic syndrome 5
- c.*189C>T Single submitter congenital myasthenic syndrome 5
- c.*257G>A Single submitter congenital myasthenic syndrome 5
- c.*276A>G Single submitter congenital myasthenic syndrome 5
- c.*407C>T Single submitter congenital myasthenic syndrome 5
- c.*425C>T Single submitter congenital myasthenic syndrome 5
- c.*426G>A Single submitter congenital myasthenic syndrome 5
- c.*446A>C Single submitter congenital myasthenic syndrome 5
- c.*4C>T Single submitter congenital myasthenic syndrome 5
- c.*516G>A Single submitter congenital myasthenic syndrome 5
- c.*715G>A Single submitter congenital myasthenic syndrome 5
- c.*736A>G Single submitter congenital myasthenic syndrome 5
- c.*751C>T Single submitter congenital myasthenic syndrome 5
- c.*76C>A Single submitter congenital myasthenic syndrome 5
- c.*848C>T Single submitter congenital myasthenic syndrome 5
- c.*85G>A Single submitter congenital myasthenic syndrome 5
- c.*993C>T Single submitter congenital myasthenic syndrome 5
- c.*999G>A Single submitter congenital myasthenic syndrome 5
- p.Ala336Thr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ala338Val Single submitter Inborn genetic diseases ⚠
- p.Ala35Thr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg127Gln Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg236Gln Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg341Gly Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg341Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg344Lys Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg399Gly Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg402Cys Single submitter ⚠
- p.Arg402Pro Single submitter Inborn genetic diseases ⚠
- p.Arg45His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Arg45Pro Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asn301Lys Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asn323Lys Single submitter Inborn genetic diseases ⚠
- p.Asn323Tyr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asn324His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asn81Asp Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asp160Asn Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asp193Glu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asp388Asn Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asp392= Single submitter
- p.Asp396Asn Single submitter congenital myasthenic syndrome 5 ⚠
- p.Asp418Glu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys291Gly Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys405Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys440Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys440Tyr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys451Tyr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys51Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Cys52Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln107His Single submitter ⚠
- p.Gln381His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gln442del Single submitter congenital myasthenic syndrome 5
- p.Glu184Gly Single submitter Inborn genetic diseases ⚠
- p.Glu214Lys Single submitter Inborn genetic diseases ⚠
- p.Glu326Gln Single submitter Inborn genetic diseases ⚠
- p.Glu329Asp Single submitter congenital myasthenic syndrome 5 ⚠
- p.Glu85Lys Single submitter Inborn genetic diseases ⚠
- p.Gly102Glu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly108Asp Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly132Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly135Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly168Trp Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly192Ser Single submitter ⚠
- p.Gly204Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly207Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly219Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly222Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly225Arg Single submitter Inborn genetic diseases ⚠
- p.Gly225Glu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly228Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly234Arg Single submitter ⚠
- p.Gly234Glu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly264Trp Single submitter Inborn genetic diseases ⚠
- p.Gly305Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly305Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly413Asp Single submitter Inborn genetic diseases ⚠
- p.Gly419Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly46Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly47Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Gly96Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.His411Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.His48Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile20Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ile27Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu13Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu15Phe Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu292Phe Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu346Met Single submitter Inborn genetic diseases ⚠
- p.Leu359Arg Single submitter Synaptic congenital myasthenic syndromes ⚠
- p.Leu438Pro Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu61del Single submitter congenital myasthenic syndrome 5
- p.Leu75Phe Single submitter congenital myasthenic syndrome 5 ⚠
- p.Leu84= Single submitter congenital myasthenic syndrome 5
- p.Lys158Thr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Lys185= Single submitter congenital myasthenic syndrome 5
- p.Lys43Arg Single submitter ⚠
- p.Met142Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met173Thr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met215Val Single submitter Inborn genetic diseases ⚠
- p.Met297Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met79Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met83Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met83Val Single submitter congenital myasthenic syndrome 5 ⚠
- p.Met94Ile Single submitter congenital myasthenic syndrome 5 ⚠
- p.Phe339Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Phe362Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro104His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro110Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro128Leu Single submitter Inborn genetic diseases ⚠
- p.Pro136His Single submitter ⚠
- p.Pro136Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro143His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro151Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro154Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro203Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro221Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro229His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro24Thr Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro256Leu Single submitter Inborn genetic diseases ⚠
- p.Pro260Arg Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro265His Single submitter Inborn genetic diseases ⚠
- p.Pro265Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro278His Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro287Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro302Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro311Ser Single submitter Inborn genetic diseases ⚠
- p.Pro317Ala Single submitter ⚠
- p.Pro364Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro450Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro57Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro60del Single submitter congenital myasthenic syndrome 5
- p.Pro63Thr Single submitter Inborn genetic diseases ⚠
- p.Pro64Leu Single submitter congenital myasthenic syndrome 5 ⚠
- p.Pro6Ser Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ser257Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ser34Thr Single submitter Inborn genetic diseases ⚠
- p.Ser39= Single submitter congenital myasthenic syndrome 5
- p.Ser391Lys Single submitter congenital myasthenic syndrome 5
- p.Ser39Ile Single submitter congenital myasthenic syndrome 5 ⚠
- p.Ser72Gly Single submitter ⚠
- p.Ter456Arg Single submitter congenital myasthenic syndrome 5
- p.Thr230Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr333Asn Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr368Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr374Pro Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr449Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr449fs Single submitter congenital myasthenic syndrome 5
- p.Thr449Met Single submitter congenital myasthenic syndrome 5 ⚠
- p.Thr455Ala Single submitter Inborn genetic diseases ⚠
- p.Thr55Ala Single submitter congenital myasthenic syndrome 5 ⚠
- p.Tyr304His Single submitter Inborn genetic diseases ⚠
- p.Tyr363Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr404Cys Single submitter congenital myasthenic syndrome 5 ⚠
- p.Val21Leu Single submitter Inborn genetic diseases ⚠
- p.Val316Ile Single submitter Inborn genetic diseases ⚠
- p.Asp377His No assertion criteria congenital myasthenic syndrome ⚠