CHRNA1 — 574 ClinVar variants
All ClinVar germline CHRNA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →
24 Pathogenic · 8 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 36 Conflicting · 40 Benign · 9 Benign/Likely benign · 164 Likely benign · 277 Uncertain significance
Full CHRNA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 176
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CHRNA1 p.Gly173Ser
Pathogenic/Likely pathogenic
Multiple submitters
myasthenic syndrome, congenital, 1B, fast-channel
-
CHRNA1 p.Val305Ile
Pathogenic
No assertion criteria
myasthenic syndrome, congenital, 1B, fast-channel
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CHRNA1 c.235-323G>A
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ala395Val
Conflicting
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Arg229His
Conflicting
Single submitter
congenital myasthenic syndrome
-
CHRNA1 p.Arg229Leu
Conflicting
Single submitter
CHRNA1-related disorders
-
CHRNA1 p.Arg46His
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Glu22Lys
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Gly260Trp
Conflicting
Single submitter
congenital myasthenic syndrome 1A
-
CHRNA1 p.Gly94Cys
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Met380Thr
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ser246Phe
Conflicting
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr312Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Val226Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Val269Phe
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHRNA1 p.Ala416Val
Uncertain significance
Multiple submitters
congenital myasthenic syndrome
-
CHRNA1 p.Arg229Cys
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg26Cys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome
-
CHRNA1 p.Arg321His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Arg40Gln
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg40Trp
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Asn414Lys
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp158His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Asp183Asn
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp258His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Asp34Glu
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Cys162Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Cys162Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Gly194Arg
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.His319Tyr
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile105Thr
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile150Ser
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile198Met
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Leu271Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Lys104Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Lys127Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Lys145Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Lys407Asn
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Met328Ile
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Phe336Val
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro140Ser
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro140Thr
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro341Ser
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro5Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Pro5Ser
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro5Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Ser163Thr
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr126Ala
Uncertain significance
Multiple submitters
myasthenic syndrome, congenital, 1B, fast-channel
-
CHRNA1 p.Thr301Ala
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr301Asn
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Tyr210His
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Val176Met
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Val18Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Val18Leu
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Val269Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome
-
CHRNA1 p.Val38Met
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
- CHRNA1 c.235-344G>A Uncertain significance Single submitter
-
CHRNA1 p.Ala142Thr
Uncertain significance
Single submitter
Slow-Channel Congenital Myasthenia Syndrome
-
CHRNA1 p.Ala177Val
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ala307Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ala395Asp
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ala423Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg107Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Arg333Gly
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg46Gly
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Asn189Ser Uncertain significance Single submitter
- CHRNA1 p.Asn237Ser Uncertain significance Single submitter
-
CHRNA1 p.Asn330Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asn73Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp186His
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp186Tyr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp358Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp64Ala
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Asp64Tyr Uncertain significance Single submitter
-
CHRNA1 p.Asp90Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp91Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Cys438Arg Uncertain significance Single submitter
- CHRNA1 p.Cys438Tyr Uncertain significance Single submitter
-
CHRNA1 p.Glu24Lys
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Glu50Asp
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Gly118Asp
Uncertain significance
Single submitter
myasthenic syndrome, congenital, 1B, fast-channel
-
CHRNA1 p.Gly194Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Gly260Glu Uncertain significance Single submitter
-
CHRNA1 p.His154Tyr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.His326Gln
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.His428Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile309Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile399Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile402Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ile439Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ile69Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ile98Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Leu129Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Leu278Pro Uncertain significance Single submitter
-
CHRNA1 p.Leu27Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Leu293Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Leu430Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Leu431Ile
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Leu436Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Lys360Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Lys420Asn Uncertain significance Single submitter
-
CHRNA1 p.Met263Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Met298Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Met302Lys
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Met426Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Met435Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Phe144Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Phe155Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Phe190Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Phe276Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro101Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro140Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro256Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 1A
-
CHRNA1 p.Pro292Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro352Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro375Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro3Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Pro41Thr
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Pro89Ser Uncertain significance Single submitter
-
CHRNA1 p.Ser11Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ser11Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ser268Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ser308Phe
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr249Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr249Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr287Arg
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr287Met
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr301Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 1A
-
CHRNA1 p.Thr442Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Trp419Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome
- CHRNA1 p.Tyr113Cys Uncertain significance Single submitter
-
CHRNA1 p.Tyr147His
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Tyr218Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Tyr35Asp
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Tyr421Cys
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Tyr92Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val128Gly
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
- CHRNA1 p.Val197Met Uncertain significance Single submitter
-
CHRNA1 p.Val236Ile
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val275Ala
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val291Leu
Uncertain significance
Single submitter
CHRNA1-related disorder
-
CHRNA1 p.Val38Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val42Leu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val445Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val66Ile
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val95Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asn237Ile
Uncertain significance
No assertion criteria
epilepsy
Predictors split 29
The independent predictors disagree with each other — read with care.
-
CHRNA1 p.Arg202Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Arg26His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Arg46Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Asp183Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Gln59His
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Glu397Lys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 1A
-
CHRNA1 p.Glu411Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Ile284Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHRNA1 p.Val49Met
Uncertain significance
Multiple submitters
lethal multiple pterygium syndrome
-
CHRNA1 p.Ala142Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg333Gln
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Arg75Cys
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Asp64Asn
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Gly432Arg
Conflicting
Single submitter
congenital myasthenic syndrome
-
CHRNA1 p.Gly94Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ile240Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ile343Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Ile440Thr
Uncertain significance
Single submitter
CHRNA1-related disorder
-
CHRNA1 p.Ile61Met
Uncertain significance
Single submitter
CHRNA1-related disorder
-
CHRNA1 p.Ile61Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 1A
-
CHRNA1 p.Leu12Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Leu76Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHRNA1 p.Leu8Pro
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Lys296Arg
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Met349Val
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Ser347Cys
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr249Ser
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Thr52Ile
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
-
CHRNA1 p.Val39Glu
Uncertain significance
Single submitter
lethal multiple pterygium syndrome
All CHRNA1 variants
Pathogenic 24
- p.Gln59Ter Multiple submitters lethal multiple pterygium syndrome
- c.345-63_403del Single submitter lethal multiple pterygium syndrome
- p.Arg75fs Single submitter lethal multiple pterygium syndrome
- p.Cys213Ter Single submitter lethal multiple pterygium syndrome
- p.Glu282Ter Single submitter lethal multiple pterygium syndrome
- p.Glu391Ter Single submitter lethal multiple pterygium syndrome
- p.His45fs Single submitter lethal multiple pterygium syndrome
- p.Ile361fs Single submitter lethal multiple pterygium syndrome
- p.Ile98fs Single submitter lethal multiple pterygium syndrome
- p.Lys127Ter Single submitter lethal multiple pterygium syndrome
- p.Lys205Ter Single submitter lethal multiple pterygium syndrome
- p.Lys360fs Single submitter lethal multiple pterygium syndrome
- p.Trp196Ter Single submitter lethal multiple pterygium syndrome
- p.Tyr83Ter Single submitter lethal multiple pterygium syndrome
- c.235-353G>A No assertion criteria myasthenic syndrome, congenital, 1B, fast-channel
- p.Asn237Lys No assertion criteria congenital myasthenic syndrome 1A
- p.Cys148fs No assertion criteria myasthenic syndrome, congenital, 1B, fast-channel
- p.Cys438Trp No assertion criteria congenital myasthenic syndrome 1A
- p.Phe276Leu No assertion criteria myasthenic syndrome, congenital, 1B, fast-channel
- p.Ser246Tyr No assertion criteria Slow-Channel Congenital Myasthenia Syndrome
- p.Ser289Ile No assertion criteria congenital myasthenic syndrome 1A
- p.Thr274Ile No assertion criteria congenital myasthenic syndrome 1A
- p.Val152Leu No assertion criteria myasthenic syndrome, congenital, 1B, fast-channel
- p.Val305Ile No assertion criteria myasthenic syndrome, congenital, 1B, fast-channel ⚠
Pathogenic/Likely pathogenic 8
- p.Arg333Trp Multiple submitters lethal multiple pterygium syndrome
- p.Gln131Ter Multiple submitters lethal multiple pterygium syndrome
- p.Gly173Ser Multiple submitters myasthenic syndrome, congenital, 1B, fast-channel ⚠
- p.Gly441Arg Multiple submitters centronuclear myopathy
- p.Lys124Ter Multiple submitters CHRNA1-related disorders
- p.Lys127fs Multiple submitters congenital myasthenic syndrome
- p.Ser174fs Multiple submitters myasthenic syndrome, congenital, 1B, fast-channel
- p.Trp106Ter No assertion criteria
Likely pathogenic 16
- p.Val208Met Multiple submitters
- c.189+1G>A Single submitter lethal multiple pterygium syndrome
- c.235-1G>A Single submitter
- c.44-1G>A Single submitter lethal multiple pterygium syndrome
- c.44-1G>T Single submitter congenital myasthenic syndrome 1A
- c.778+2T>A Single submitter lethal multiple pterygium syndrome
- c.779-1_779insA Single submitter lethal multiple pterygium syndrome
- c.779-2A>C Single submitter
- p.Ala142Val Single submitter congenital myasthenic syndrome 1A
- p.Arg229= Single submitter non-immune hydrops fetalis
- p.Gly295Ala Single submitter
- p.Leu85Pro Single submitter congenital myasthenic syndrome 1A
- p.Phe253Val Single submitter lethal multiple pterygium syndrome
- p.Ser146_Tyr147insTer Single submitter congenital myasthenic syndrome 1A
- p.Tyr147Ter Single submitter myasthenic syndrome, congenital, 1B, fast-channel
- p.Val18fs Single submitter CHRNA1-related disorders
Conflicting classifications of pathogenicity 36
- c.1002+9G>A Single submitter congenital myasthenic syndrome
- c.235-323G>A Single submitter lethal multiple pterygium syndrome ⚠
- c.-37A>G Single submitter congenital myasthenic syndrome
- c.*411G>A Single submitter congenital myasthenic syndrome
- c.*422G>T Single submitter congenital myasthenic syndrome
- c.*499A>T Single submitter congenital myasthenic syndrome
- p.Ala395Val Single submitter Inborn genetic diseases ⚠
- p.Ala444= Single submitter congenital myasthenic syndrome
- p.Arg107Cys Single submitter Inborn genetic diseases
- p.Arg229His Single submitter congenital myasthenic syndrome ⚠
- p.Arg229Leu Single submitter CHRNA1-related disorders ⚠
- p.Arg46His Single submitter lethal multiple pterygium syndrome ⚠
- p.Arg75His Single submitter congenital myasthenic syndrome
- p.Asn237= Single submitter congenital myasthenic syndrome
- p.Asp91Asn Single submitter myasthenic syndrome, congenital, 1B, fast-channel
- p.Gln68= Single submitter
- p.Glu22Lys Single submitter lethal multiple pterygium syndrome ⚠
- p.Glu355Gly Single submitter lethal multiple pterygium syndrome
- p.Gly260Trp Single submitter congenital myasthenic syndrome 1A ⚠
- p.Gly381= Single submitter lethal multiple pterygium syndrome
- p.Gly432Arg Single submitter congenital myasthenic syndrome ⚠
- p.Gly94Cys Single submitter lethal multiple pterygium syndrome ⚠
- p.Ile235= Single submitter congenital myasthenic syndrome
- p.Ile316= Single submitter lethal multiple pterygium syndrome
- p.Leu219= Single submitter congenital myasthenic syndrome
- p.Leu431= Single submitter congenital myasthenic syndrome
- p.Lys356Thr Single submitter Inborn genetic diseases
- p.Met1Thr Single submitter congenital myasthenic syndrome
- p.Met1Val Single submitter lethal multiple pterygium syndrome
- p.Met380Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Phe304= Single submitter lethal multiple pterygium syndrome
- p.Ser246Phe Single submitter lethal multiple pterygium syndrome ⚠
- p.Ser37= Single submitter congenital myasthenic syndrome
- p.Thr312Asn Single submitter Inborn genetic diseases ⚠
- p.Val226Ile Single submitter Inborn genetic diseases ⚠
- p.Val269Phe Single submitter Inborn genetic diseases ⚠
Benign 40
- c.1003-33_1003-31del Multiple submitters
- c.1003-53A>G Multiple submitters congenital myasthenic syndrome 1A
- c.1242+139T>G Multiple submitters
- c.1242+143C>G Multiple submitters
- c.1242+35T>A Multiple submitters
- c.1243-132C>T Multiple submitters
- c.1243-76T>G Multiple submitters
- c.235-385C>T Multiple submitters congenital myasthenic syndrome 1A
- c.235-504A>G Multiple submitters
- c.43+195C>G Multiple submitters
- c.43+216T>C Multiple submitters
- c.43+233A>G Multiple submitters
- c.43+59G>T Multiple submitters lethal multiple pterygium syndrome
- c.540+4G>C Multiple submitters congenital myasthenic syndrome
- c.779-12del Multiple submitters
- c.779-13_779-12del Multiple submitters
- c.779-135G>A Multiple submitters
- p.Asp358Val Multiple submitters congenital myasthenic syndrome
- p.His320= Multiple submitters congenital myasthenic syndrome
- c.1002+17del Single submitter lethal multiple pterygium syndrome
- c.1002+273C>T Single submitter
- c.1002+58C>T Single submitter
- c.1003-8dup Single submitter lethal multiple pterygium syndrome
- c.1243-38C>T Single submitter
- c.190-13dup Single submitter lethal multiple pterygium syndrome
- c.234+296G>A Single submitter
- c.235-422G>T Single submitter
- c.235-589G>T Single submitter
- c.344+115del Single submitter
- c.344+236A>T Single submitter
- c.344+236dup Single submitter
- c.344+282G>A Single submitter
- c.344+317G>A Single submitter
- c.44-235G>A Single submitter
- c.44-236C>T Single submitter
- c.44-326GT[13] Single submitter
- c.44-326GT[14] Single submitter
- c.44-326GT[16] Single submitter
- c.44-326GT[18] Single submitter
- c.44-326GT[20] Single submitter
Benign/Likely benign 9
- c.189+12G>A Multiple submitters lethal multiple pterygium syndrome
- c.190-5del Multiple submitters congenital myasthenic syndrome 1A
- c.779-14_779-12del Multiple submitters
- c.*218C>T Multiple submitters congenital myasthenic syndrome
- c.*426C>A Multiple submitters congenital myasthenic syndrome
- p.Asp215Asn Multiple submitters congenital myasthenic syndrome
- p.Glu411Asp Multiple submitters congenital myasthenic syndrome
- p.Pro241= Multiple submitters congenital myasthenic syndrome
- p.Ser207= Multiple submitters lethal multiple pterygium syndrome
Likely benign 164
- c.1242+10G>A Multiple submitters lethal multiple pterygium syndrome
- c.189+16T>A Multiple submitters lethal multiple pterygium syndrome
- c.235-358T>C Multiple submitters
- c.344+74G>A Multiple submitters
- c.345-130C>T Multiple submitters
- c.345-98C>T Multiple submitters
- c.44-118G>A Multiple submitters
- c.778+201G>A Multiple submitters
- c.778+316C>G Multiple submitters
- c.779-124C>T Multiple submitters
- c.-8G>A Multiple submitters
- p.Asp172= Multiple submitters lethal multiple pterygium syndrome
- p.Ile440= Multiple submitters lethal multiple pterygium syndrome
- p.Leu265= Multiple submitters lethal multiple pterygium syndrome
- p.Lys124= Multiple submitters lethal multiple pterygium syndrome
- p.Phe245= Multiple submitters lethal multiple pterygium syndrome
- p.Ser182= Multiple submitters lethal multiple pterygium syndrome
- p.Thr137= Multiple submitters lethal multiple pterygium syndrome
- p.Tyr171= Multiple submitters lethal multiple pterygium syndrome
- p.Val175= Multiple submitters lethal multiple pterygium syndrome
- c.1002+10G>C Single submitter lethal multiple pterygium syndrome
- c.1002+120C>T Single submitter
- c.1002+14C>G Single submitter lethal multiple pterygium syndrome
- c.1002+14C>T Single submitter lethal multiple pterygium syndrome
- c.1002+17C>G Single submitter lethal multiple pterygium syndrome
- c.1003-12_1003-8del Single submitter lethal multiple pterygium syndrome
- c.1003-12T>A Single submitter lethal multiple pterygium syndrome
- c.1003-6T>C Single submitter lethal multiple pterygium syndrome
- c.1003-8T>C Single submitter lethal multiple pterygium syndrome
- c.1003-9T>A Single submitter lethal multiple pterygium syndrome
- c.1003-9T>C Single submitter lethal multiple pterygium syndrome
- c.1242+11T>A Single submitter lethal multiple pterygium syndrome
- c.1242+17G>A Single submitter lethal multiple pterygium syndrome
- c.1243-7C>T Single submitter lethal multiple pterygium syndrome
- c.189+18G>A Single submitter lethal multiple pterygium syndrome
- c.189+7_189+8insCCT Single submitter lethal multiple pterygium syndrome
- c.190-11T>G Single submitter lethal multiple pterygium syndrome
- c.190-12T>A Single submitter lethal multiple pterygium syndrome
- c.190-18C>T Single submitter lethal multiple pterygium syndrome
- c.234+33T>C Single submitter
- c.235-14G>A Single submitter lethal multiple pterygium syndrome
- c.235-18G>A Single submitter lethal multiple pterygium syndrome
- c.235-19T>C Single submitter lethal multiple pterygium syndrome
- c.235-20C>T Single submitter lethal multiple pterygium syndrome
- c.235-518C>G Single submitter
- c.235-8G>T Single submitter lethal multiple pterygium syndrome
- c.235-9dup Single submitter lethal multiple pterygium syndrome
- c.344+12G>C Single submitter lethal multiple pterygium syndrome
- c.344+14A>G Single submitter lethal multiple pterygium syndrome
- c.344+15T>C Single submitter lethal multiple pterygium syndrome
- c.344+17G>C Single submitter lethal multiple pterygium syndrome
- c.345-10C>T Single submitter lethal multiple pterygium syndrome
- c.345-14T>A Single submitter lethal multiple pterygium syndrome
- c.345-19T>A Single submitter lethal multiple pterygium syndrome
- c.345-7del Single submitter lethal multiple pterygium syndrome
- c.43+11G>A Single submitter lethal multiple pterygium syndrome
- c.43+13G>T Single submitter
- c.43+20G>T Single submitter lethal multiple pterygium syndrome
- c.44-10G>A Single submitter
- c.44-10G>T Single submitter lethal multiple pterygium syndrome
- c.44-5C>G Single submitter lethal multiple pterygium syndrome
- c.44-9C>A Single submitter lethal multiple pterygium syndrome
- c.540+16A>C Single submitter lethal multiple pterygium syndrome
- c.540+17T>A Single submitter lethal multiple pterygium syndrome
- c.540+7G>A Single submitter lethal multiple pterygium syndrome
- c.541-12T>C Single submitter lethal multiple pterygium syndrome
- c.541-13C>T Single submitter lethal multiple pterygium syndrome
- c.541-15del Single submitter lethal multiple pterygium syndrome
- c.541-17del Single submitter lethal multiple pterygium syndrome
- c.541-20A>C Single submitter lethal multiple pterygium syndrome
- c.778+145C>T Single submitter
- c.778+18G>A Single submitter lethal multiple pterygium syndrome
- c.779-12_779-11del Single submitter lethal multiple pterygium syndrome
- c.779-13_779-11del Single submitter lethal multiple pterygium syndrome
- c.779-15_779-12del Single submitter
- c.779-28dup Single submitter
- c.779-5T>C Single submitter lethal multiple pterygium syndrome
- c.-13G>A Single submitter
- c.-17A>C Single submitter
- p.Ala290= Single submitter lethal multiple pterygium syndrome
- p.Ala416= Single submitter lethal multiple pterygium syndrome
- p.Ala423= Single submitter lethal multiple pterygium syndrome
- p.Arg40= Single submitter lethal multiple pterygium syndrome
- p.Asn179Ser Single submitter lethal multiple pterygium syndrome
- p.Asn413= Single submitter
- p.Asp109= Single submitter lethal multiple pterygium syndrome
- p.Asp90= Single submitter lethal multiple pterygium syndrome
- p.Cys213= Single submitter lethal multiple pterygium syndrome
- p.Cys438= Single submitter lethal multiple pterygium syndrome
- p.Gln357= Single submitter lethal multiple pterygium syndrome
- p.Gln47= Single submitter lethal multiple pterygium syndrome
- p.Glu195= Single submitter lethal multiple pterygium syndrome
- p.Glu200= Single submitter lethal multiple pterygium syndrome
- p.Glu404= Single submitter lethal multiple pterygium syndrome
- p.Glu418= Single submitter lethal multiple pterygium syndrome
- p.Gly250= Single submitter lethal multiple pterygium syndrome
- p.Gly260= Single submitter lethal multiple pterygium syndrome
- p.Gly376= Single submitter lethal multiple pterygium syndrome
- p.Gly398= Single submitter lethal multiple pterygium syndrome
- p.Gly93= Single submitter lethal multiple pterygium syndrome
- p.His206= Single submitter lethal multiple pterygium syndrome
- p.His224= Single submitter lethal multiple pterygium syndrome
- p.His428= Single submitter lethal multiple pterygium syndrome
- p.Ile151= Single submitter lethal multiple pterygium syndrome
- p.Ile239= Single submitter lethal multiple pterygium syndrome
- p.Ile267= Single submitter lethal multiple pterygium syndrome
- p.Ile280= Single submitter lethal multiple pterygium syndrome
- p.Ile309= Single submitter lethal multiple pterygium syndrome
- p.Ile314= Single submitter lethal multiple pterygium syndrome
- p.Ile361= Single submitter lethal multiple pterygium syndrome
- p.Ile387= Single submitter lethal multiple pterygium syndrome
- p.Ile396= Single submitter lethal multiple pterygium syndrome
- p.Ile402= Single submitter lethal multiple pterygium syndrome
- p.Ile69= Single submitter lethal multiple pterygium syndrome
- p.Leu110= Single submitter lethal multiple pterygium syndrome
- p.Leu129= Single submitter lethal multiple pterygium syndrome
- p.Leu17= Single submitter lethal multiple pterygium syndrome
- p.Leu187= Single submitter lethal multiple pterygium syndrome
- p.Leu255= Single submitter lethal multiple pterygium syndrome
- p.Leu271= Single submitter lethal multiple pterygium syndrome
- p.Leu299= Single submitter lethal multiple pterygium syndrome
- p.Leu443= Single submitter lethal multiple pterygium syndrome
- p.Leu6= Single submitter lethal multiple pterygium syndrome
- p.Leu85= Single submitter lethal multiple pterygium syndrome
- p.Lys356= Single submitter lethal multiple pterygium syndrome
- p.Lys96= Single submitter lethal multiple pterygium syndrome
- p.Phe225= Single submitter lethal multiple pterygium syndrome
- p.Phe276= Single submitter lethal multiple pterygium syndrome
- p.Pro101= Single submitter lethal multiple pterygium syndrome
- p.Pro108= Single submitter lethal multiple pterygium syndrome
- p.Pro214= Single submitter lethal multiple pterygium syndrome
- p.Pro217= Single submitter lethal multiple pterygium syndrome
- p.Pro292= Single submitter lethal multiple pterygium syndrome
- p.Pro379= Single submitter lethal multiple pterygium syndrome
- p.Pro390= Single submitter lethal multiple pterygium syndrome
- p.Pro5= Single submitter
- p.Ser193= Single submitter lethal multiple pterygium syndrome
- p.Ser21= Single submitter lethal multiple pterygium syndrome
- p.Ser246= Single submitter lethal multiple pterygium syndrome
- p.Ser288= Single submitter lethal multiple pterygium syndrome
- p.Ser308= Single submitter lethal multiple pterygium syndrome
- p.Ser384= Single submitter lethal multiple pterygium syndrome
- p.Thr133= Single submitter lethal multiple pterygium syndrome
- p.Thr153= Single submitter lethal multiple pterygium syndrome
- p.Thr170= Single submitter lethal multiple pterygium syndrome
- p.Thr216= Single submitter lethal multiple pterygium syndrome
- p.Thr25= Single submitter lethal multiple pterygium syndrome
- p.Thr287= Single submitter lethal multiple pterygium syndrome
- p.Thr301= Single submitter lethal multiple pterygium syndrome
- p.Thr318= Single submitter lethal multiple pterygium syndrome
- p.Thr325= Single submitter lethal multiple pterygium syndrome
- p.Thr405= Single submitter lethal multiple pterygium syndrome
- p.Thr442= Single submitter lethal multiple pterygium syndrome
- p.Thr52= Single submitter lethal multiple pterygium syndrome
- p.Tyr218= Single submitter lethal multiple pterygium syndrome
- p.Tyr223= Single submitter lethal multiple pterygium syndrome
- p.Tyr421= Single submitter lethal multiple pterygium syndrome
- p.Tyr92= Single submitter
- p.Val197= Single submitter lethal multiple pterygium syndrome
- p.Val236= Single submitter lethal multiple pterygium syndrome
- p.Val315= Single submitter lethal multiple pterygium syndrome
- p.Val48= Single submitter lethal multiple pterygium syndrome
- c.-9C>T No assertion criteria CHRNA1-related disorder
- p.Val152= No assertion criteria CHRNA1-related disorder
Uncertain significance 277
- c.*101C>T Multiple submitters congenital myasthenic syndrome
- p.Ala121Thr Multiple submitters Inborn genetic diseases
- p.Ala416Val Multiple submitters congenital myasthenic syndrome ⚠
- p.Arg107His Multiple submitters lethal multiple pterygium syndrome
- p.Arg107Leu Multiple submitters lethal multiple pterygium syndrome
- p.Arg202Gln Multiple submitters congenital myasthenic syndrome
- p.Arg202Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg229Cys Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Arg26Cys Multiple submitters congenital myasthenic syndrome ⚠
- p.Arg26His Multiple submitters Inborn genetic diseases ⚠
- p.Arg321His Multiple submitters Inborn genetic diseases ⚠
- p.Arg40Gln Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Arg40Trp Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Arg449Ter Multiple submitters lethal multiple pterygium syndrome
- p.Arg46Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn414Lys Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Asp119Glu Multiple submitters lethal multiple pterygium syndrome
- p.Asp158His Multiple submitters Inborn genetic diseases ⚠
- p.Asp183Ala Multiple submitters Inborn genetic diseases
- p.Asp183Asn Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Asp183Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp258His Multiple submitters Inborn genetic diseases ⚠
- p.Asp34Glu Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Cys162Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys162Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln59His Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Glu192Gly Multiple submitters Inborn genetic diseases
- p.Glu397Lys Multiple submitters congenital myasthenic syndrome 1A ⚠
- p.Glu411Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly194Arg Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Gly250Asp Multiple submitters lethal multiple pterygium syndrome
- p.Gly448Asp Multiple submitters lethal multiple pterygium syndrome
- p.His319Tyr Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Ile100Phe Multiple submitters lethal multiple pterygium syndrome
- p.Ile105Thr Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Ile150Met Multiple submitters Inborn genetic diseases
- p.Ile150Ser Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Ile151Phe Multiple submitters lethal multiple pterygium syndrome
- p.Ile198Met Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Ile284Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile366Thr Multiple submitters Inborn genetic diseases
- p.Leu271Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu430Phe Multiple submitters Inborn genetic diseases
- p.Lys104Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys127Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys145Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys388Gln Multiple submitters Inborn genetic diseases
- p.Lys400Arg Multiple submitters lethal multiple pterygium syndrome
- p.Lys407Asn Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Met328Ile Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Phe336Val Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Pro140Ser Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Pro140Thr Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Pro180Leu Multiple submitters lethal multiple pterygium syndrome
- p.Pro341Ser Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Pro377Arg Multiple submitters lethal multiple pterygium syndrome
- p.Pro5Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro5Ser Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Pro5Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro89Ala Multiple submitters lethal multiple pterygium syndrome
- p.Ser163Thr Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Ser353Tyr Multiple submitters lethal multiple pterygium syndrome
- p.Ser394Arg Multiple submitters lethal multiple pterygium syndrome
- p.Thr126Ala Multiple submitters myasthenic syndrome, congenital, 1B, fast-channel ⚠
- p.Thr137Met Multiple submitters lethal multiple pterygium syndrome
- p.Thr301Ala Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Thr301Asn Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Thr363Arg Multiple submitters lethal multiple pterygium syndrome
- p.Thr363Ile Multiple submitters Inborn genetic diseases
- p.Tyr210His Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Val176Met Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Val18Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val18Leu Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Val269Leu Multiple submitters congenital myasthenic syndrome ⚠
- p.Val281Met Multiple submitters lethal multiple pterygium syndrome
- p.Val315Ile Multiple submitters Inborn genetic diseases
- p.Val335Phe Multiple submitters congenital myasthenic syndrome 1A
- p.Val38Met Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Val422Ile Multiple submitters lethal multiple pterygium syndrome
- p.Val445Met Multiple submitters lethal multiple pterygium syndrome
- p.Val49Met Multiple submitters lethal multiple pterygium syndrome ⚠
- p.Val53Met Multiple submitters Inborn genetic diseases
- c.1002+5del Single submitter lethal multiple pterygium syndrome
- c.1003-10T>A Single submitter lethal multiple pterygium syndrome
- c.1003-3T>C Single submitter lethal multiple pterygium syndrome
- c.1243-3C>T Single submitter lethal multiple pterygium syndrome
- c.189+4A>T Single submitter lethal multiple pterygium syndrome
- c.235-270G>T Single submitter
- c.235-344G>A Single submitter ⚠
- c.235-347A>T Single submitter
- c.235-8del Single submitter
- c.344+6C>A Single submitter lethal multiple pterygium syndrome
- c.345-3T>C Single submitter lethal multiple pterygium syndrome
- c.345-7A>G Single submitter lethal multiple pterygium syndrome
- c.778+4G>T Single submitter lethal multiple pterygium syndrome
- c.-6T>C Single submitter
- c.*130A>T Single submitter congenital myasthenic syndrome
- c.*275A>G Single submitter congenital myasthenic syndrome
- c.*288G>A Single submitter congenital myasthenic syndrome
- c.*310C>T Single submitter congenital myasthenic syndrome
- c.*358C>T Single submitter congenital myasthenic syndrome
- c.*383T>C Single submitter congenital myasthenic syndrome
- c.*414T>A Single submitter congenital myasthenic syndrome
- c.*461A>T Single submitter congenital myasthenic syndrome
- c.*466G>C Single submitter congenital myasthenic syndrome
- p.Ala116= Single submitter lethal multiple pterygium syndrome
- p.Ala142Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Ala142Thr Single submitter Slow-Channel Congenital Myasthenia Syndrome ⚠
- p.Ala177Asp Single submitter lethal multiple pterygium syndrome
- p.Ala177Val Single submitter lethal multiple pterygium syndrome ⚠
- p.Ala290Ser Single submitter
- p.Ala290Val Single submitter lethal multiple pterygium syndrome
- p.Ala307Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Ala395Asp Single submitter lethal multiple pterygium syndrome ⚠
- p.Ala415= Single submitter lethal multiple pterygium syndrome
- p.Ala415Val Single submitter lethal multiple pterygium syndrome
- p.Ala423Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Arg107Pro Single submitter Inborn genetic diseases ⚠
- p.Arg107Ser Single submitter
- p.Arg333Gln Single submitter lethal multiple pterygium syndrome ⚠
- p.Arg333Gly Single submitter lethal multiple pterygium syndrome ⚠
- p.Arg351Lys Single submitter lethal multiple pterygium syndrome
- p.Arg351Ser Single submitter lethal multiple pterygium syndrome
- p.Arg449Gln Single submitter Inborn genetic diseases
- p.Arg46Gly Single submitter lethal multiple pterygium syndrome ⚠
- p.Arg75Cys Single submitter lethal multiple pterygium syndrome ⚠
- p.Asn161Thr Single submitter Inborn genetic diseases
- p.Asn189Ile Single submitter lethal multiple pterygium syndrome
- p.Asn189Ser Single submitter ⚠
- p.Asn237Ser Single submitter ⚠
- p.Asn330Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Asn414Ser Single submitter Inborn genetic diseases
- p.Asn414Tyr Single submitter Inborn genetic diseases
- p.Asn73Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp172Asn Single submitter lethal multiple pterygium syndrome
- p.Asp172Glu Single submitter
- p.Asp186Asn Single submitter Inborn genetic diseases
- p.Asp186His Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp186Tyr Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp338His Single submitter lethal multiple pterygium syndrome
- p.Asp358Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp64Ala Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp64Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp64Tyr Single submitter ⚠
- p.Asp90Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Asp91Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Cys438Arg Single submitter ⚠
- p.Cys438Tyr Single submitter ⚠
- p.Gln131Lys Single submitter lethal multiple pterygium syndrome
- p.Glu24Lys Single submitter lethal multiple pterygium syndrome ⚠
- p.Glu391Gln Single submitter
- p.Glu391Lys Single submitter lethal multiple pterygium syndrome
- p.Glu50Asp Single submitter lethal multiple pterygium syndrome ⚠
- p.Gly118Asp Single submitter myasthenic syndrome, congenital, 1B, fast-channel ⚠
- p.Gly194Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly94Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.His154Tyr Single submitter lethal multiple pterygium syndrome ⚠
- p.His224Tyr Single submitter
- p.His326Gln Single submitter lethal multiple pterygium syndrome ⚠
- p.His428Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Ile122Val Single submitter lethal multiple pterygium syndrome
- p.Ile151Thr Single submitter lethal multiple pterygium syndrome
- p.Ile151Val Single submitter lethal multiple pterygium syndrome
- p.Ile221Val Single submitter lethal multiple pterygium syndrome
- p.Ile240Leu Single submitter Inborn genetic diseases ⚠
- p.Ile280Val Single submitter lethal multiple pterygium syndrome
- p.Ile306Ser Single submitter
- p.Ile309Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Ile316Leu Single submitter
- p.Ile337= Single submitter lethal multiple pterygium syndrome
- p.Ile343Thr Single submitter Inborn genetic diseases ⚠
- p.Ile396Met Single submitter
- p.Ile399Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Ile402Thr Single submitter Inborn genetic diseases ⚠
- p.Ile439Val Single submitter Inborn genetic diseases ⚠
- p.Ile440Thr Single submitter CHRNA1-related disorder ⚠
- p.Ile440Val Single submitter lethal multiple pterygium syndrome
- p.Ile61Leu Single submitter lethal multiple pterygium syndrome
- p.Ile61Met Single submitter CHRNA1-related disorder ⚠
- p.Ile61Thr Single submitter congenital myasthenic syndrome 1A ⚠
- p.Ile69Thr Single submitter Inborn genetic diseases ⚠
- p.Ile98Val Single submitter Inborn genetic diseases ⚠
- p.Leu129Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu12Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu278Pro Single submitter ⚠
- p.Leu27Pro Single submitter Inborn genetic diseases ⚠
- p.Leu293Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu430Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu431Ile Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu436Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Leu450Phe Single submitter lethal multiple pterygium syndrome
- p.Leu76Val Single submitter Inborn genetic diseases ⚠
- p.Leu8Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Lys205Arg Single submitter lethal multiple pterygium syndrome
- p.Lys296Arg Single submitter lethal multiple pterygium syndrome ⚠
- p.Lys334= Single submitter lethal multiple pterygium syndrome
- p.Lys350Gln Single submitter lethal multiple pterygium syndrome
- p.Lys360Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Lys420Asn Single submitter ⚠
- p.Met191Thr Single submitter Inborn genetic diseases
- p.Met227Val Single submitter lethal multiple pterygium syndrome
- p.Met263Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Met298Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Met302Lys Single submitter lethal multiple pterygium syndrome ⚠
- p.Met344Leu Single submitter lethal multiple pterygium syndrome
- p.Met349Ile Single submitter lethal multiple pterygium syndrome
- p.Met349Val Single submitter lethal multiple pterygium syndrome ⚠
- p.Met426Ile Single submitter Inborn genetic diseases ⚠
- p.Met435Lys Single submitter Inborn genetic diseases ⚠
- p.Phe144Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Phe155Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Phe190Ser Single submitter Inborn genetic diseases ⚠
- p.Phe247del Single submitter congenital myasthenic syndrome 1A
- p.Phe276Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro101Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro140Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro180= Single submitter lethal multiple pterygium syndrome
- p.Pro214Ser Single submitter lethal multiple pterygium syndrome
- p.Pro256Thr Single submitter congenital myasthenic syndrome 1A ⚠
- p.Pro292Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro352Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro375Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro385Ser Single submitter
- p.Pro3Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro41Thr Single submitter lethal multiple pterygium syndrome ⚠
- p.Pro89= Single submitter congenital myasthenic syndrome
- p.Pro89Ser Single submitter ⚠
- p.Ser11Arg Single submitter lethal multiple pterygium syndrome
- p.Ser11Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Ser11Ile Single submitter Inborn genetic diseases ⚠
- p.Ser146fs Single submitter
- p.Ser188Arg Single submitter lethal multiple pterygium syndrome
- p.Ser268Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Ser289Arg Single submitter
- p.Ser308Phe Single submitter lethal multiple pterygium syndrome ⚠
- p.Ser347Cys Single submitter lethal multiple pterygium syndrome ⚠
- p.Ser384Phe Single submitter lethal multiple pterygium syndrome
- p.Thr139Ile Single submitter lethal multiple pterygium syndrome
- p.Thr249Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Thr249Pro Single submitter lethal multiple pterygium syndrome ⚠
- p.Thr249Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Thr257Ala Single submitter lethal multiple pterygium syndrome
- p.Thr287Arg Single submitter lethal multiple pterygium syndrome ⚠
- p.Thr287Met Single submitter lethal multiple pterygium syndrome ⚠
- p.Thr301Ser Single submitter congenital myasthenic syndrome 1A ⚠
- p.Thr312_Ile314del Single submitter
- p.Thr339Ile Single submitter lethal multiple pterygium syndrome
- p.Thr442Ile Single submitter Inborn genetic diseases ⚠
- p.Thr52Ile Single submitter lethal multiple pterygium syndrome ⚠
- p.Trp419Arg Single submitter congenital myasthenic syndrome ⚠
- p.Tyr113Cys Single submitter ⚠
- p.Tyr147His Single submitter lethal multiple pterygium syndrome ⚠
- p.Tyr218Ser Single submitter lethal multiple pterygium syndrome ⚠
- p.Tyr35Asp Single submitter lethal multiple pterygium syndrome ⚠
- p.Tyr421Cys Single submitter lethal multiple pterygium syndrome ⚠
- p.Tyr92Asn Single submitter lethal multiple pterygium syndrome ⚠
- p.Val128Gly Single submitter lethal multiple pterygium syndrome ⚠
- p.Val152Ile Single submitter lethal multiple pterygium syndrome
- p.Val197Met Single submitter ⚠
- p.Val236Ile Single submitter lethal multiple pterygium syndrome ⚠
- p.Val238Ile Single submitter lethal multiple pterygium syndrome
- p.Val275Ala Single submitter lethal multiple pterygium syndrome ⚠
- p.Val279Ile Single submitter lethal multiple pterygium syndrome
- p.Val291Leu Single submitter CHRNA1-related disorder ⚠
- p.Val332Ala Single submitter CHRNA1-Related Congenital Myasthenic Syndrome
- p.Val38Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Val39Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Val422= Single submitter lethal multiple pterygium syndrome
- p.Val42Leu Single submitter lethal multiple pterygium syndrome ⚠
- p.Val445Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Val66Ile Single submitter lethal multiple pterygium syndrome ⚠
- p.Val95Glu Single submitter lethal multiple pterygium syndrome ⚠
- p.Val95Met Single submitter lethal multiple pterygium syndrome
- p.Asn237Ile No assertion criteria epilepsy ⚠
- p.Gln78= No assertion criteria CHRNA1-related disorder
- p.Pro385Thr No assertion criteria CHRNA1-related disorder