RAPSN — 709 ClinVar variants

All ClinVar germline RAPSN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →

43 Pathogenic · 29 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 36 Conflicting · 17 Benign · 6 Benign/Likely benign · 303 Likely benign · 236 Uncertain significance

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

⚑ Evidence disagreements 211

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.

RAPSN p.Arg164Gly Pathogenic/Likely pathogenic Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Arg91His Likely pathogenic Single submitter
congenital myasthenic syndrome 11

Predictors agree, ClinVar conflicts 13

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

RAPSN p.Ala265Val Conflicting Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Arg221His Conflicting Single submitter
Inborn genetic diseases
RAPSN p.Arg242Trp Conflicting Single submitter
congenital myasthenic syndrome
RAPSN p.Arg259His Conflicting Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg397Gln Conflicting Single submitter
congenital myasthenic syndrome 11
RAPSN p.Glu310Lys Conflicting Single submitter
Inborn genetic diseases
RAPSN p.Glu94Lys Conflicting Single submitter
RAPSN-related disorder
RAPSN p.Gly122Arg Conflicting Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Gly291Asp Conflicting Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu391Pro Conflicting Single submitter
congenital myasthenic syndrome 11
RAPSN p.Ser274Asn Conflicting Single submitter
congenital myasthenic syndrome 11
RAPSN p.Val138Ile Conflicting Single submitter
congenital myasthenic syndrome 11
RAPSN p.Val214Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 128

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

RAPSN p.Ala159Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Ala253Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Ala265Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Ala288Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Ala301Val Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg151Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Arg282Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Arg376Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg376Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg376Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg404Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Arg42Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Arg74Gln Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Asn194Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asn394His Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Asn394Ser Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Asp158Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Asp261Asn Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asp270Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Asp303Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asp78Asn Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asp80Asn Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Gln120His Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Glu11Asp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Glu227Gly Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Glu317Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Glu372Gly Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Gly223Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.His329Tyr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Leu283Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Lys24Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Lys60Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Met407Ile Uncertain significance Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Ser104Ala Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Thr359Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Thr72Met Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Tyr59Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Val297Met Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Val356Met Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Val68Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Ala174Val Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Ala190Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ala225Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ala25Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ala272Val Uncertain significance Single submitter
RAPSN p.Ala347Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ala347Val Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Ala73Asp Uncertain significance Single submitter
RAPSN p.Arg151His Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg221Cys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg242Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg242Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg257Trp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg282His Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Arg337Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg343Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg343Trp Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Arg346Pro Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Arg351Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Arg403Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg404His Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Arg42His Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg58His Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg74Trp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Asn401Lys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Asp307His Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Asp78Glu Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Cys106Arg Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Cys106Tyr Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Cys187Gly Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Gln15Lys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Gln342Arg Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Gln8Lys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Glu227Ala Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Glu344Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Glu34Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Glu354Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Gly13Glu Uncertain significance Single submitter
RAPSN p.Gly199Cys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Gly223Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Gly284Arg Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Gly395Arg Uncertain significance Single submitter
RAPSN p.Gly395Trp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Gly57Arg Uncertain significance Single submitter
RAPSN p.His239Tyr Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.His384Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.His53Tyr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ile279Met Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Leu110Phe Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Leu127Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu169Pro Uncertain significance Single submitter
RAPSN p.Leu244Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu262Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu306Pro Uncertain significance Single submitter
RAPSN p.Leu345Pro Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Leu377Arg Uncertain significance Single submitter
RAPSN p.Leu39Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu39Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu82Pro Uncertain significance Single submitter
RAPSN p.Leu83Gln Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Lys101Arg Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Lys188Arg Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Met207Val Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Met273Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Pro267Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ser128Arg Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Ser224Asn Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Ser37Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Ser383Cys Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Ser406Thr Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Thr22Ile Uncertain significance Single submitter
RAPSN p.Tyr17Ser Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Val28Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Val292Met Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Val349Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Ala132Val Uncertain significance No assertion criteria
RAPSN-related disorder
RAPSN p.Ala272Ser Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Arg403His Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Asn155Asp Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Asn393Lys Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Cys187Ser Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Gln18Arg Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Gly220Asp Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.His256Arg Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Leu202Pro Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Lys31Glu Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Lys373Glu Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Val138Leu Uncertain significance No assertion criteria
congenital myasthenic syndrome

Predictors split 68

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

RAPSN p.Ala149Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Ala236Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Ala66Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg164Cys Pathogenic/Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Arg217Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Arg217His Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Arg259Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Arg337His Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Arg346Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Arg91Cys Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Asn20Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asp254Asn Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Asp78Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Cys97Tyr Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Glu147Lys Pathogenic/Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Glu162Lys Pathogenic/Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Glu180Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 2
RAPSN p.Glu278Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Glu333Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Gly240Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Gly280Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Gly47Asp Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Ile10Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Met160Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Phe81Leu Benign Multiple submitters
fetal akinesia deformation sequence 1
RAPSN p.Ser274Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAPSN p.Trp200Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 11
RAPSN p.Ala153Thr Conflicting Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Ala189Val Uncertain significance Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Ala25Ser Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg164His Conflicting Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg205Trp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg242Gln Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg257Gly Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Arg259Gly Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg268Met Uncertain significance Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Arg282Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Arg44Cys Uncertain significance Single submitter
congenital myasthenic syndrome
RAPSN p.Arg91Leu Conflicting Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Asp178Gly Uncertain significance Single submitter
RAPSN p.Gln5His Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Gln69Arg Uncertain significance Single submitter
RAPSN p.Gln69Glu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Glu368Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Glu84Ala Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Glu94Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Gly135Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu14Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu183Arg Uncertain significance Single submitter
Inborn genetic diseases
RAPSN p.Leu192Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Leu283Pro Conflicting Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Leu326Phe Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Lys322Asn Uncertain significance Single submitter
RAPSN p.Met207Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 1
RAPSN p.Met212Arg Uncertain significance Single submitter
RAPSN p.Met233Val Uncertain significance Single submitter
RAPSN p.Ser201Arg Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Ser208Arg Conflicting Single submitter
fetal akinesia deformation sequence 2
RAPSN p.Tyr105Cys Uncertain significance Single submitter
RAPSN p.Tyr59His Uncertain significance Single submitter
congenital myasthenic syndrome 11
RAPSN p.Arg337Gly Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Asn88Lys Pathogenic No assertion criteria
congenital myasthenic syndrome 11
RAPSN p.Cys228Arg Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Gln5Arg Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Glu84Gly Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Phe139Ser Pathogenic No assertion criteria
fetal akinesia deformation sequence 2
RAPSN p.Phe184Leu Uncertain significance No assertion criteria
congenital myasthenic syndrome
RAPSN p.Thr6Asn Uncertain significance No assertion criteria
congenital myasthenic syndrome

All RAPSN variants

Pathogenic 43

c.192+2T>G Multiple submitters congenital myasthenic syndrome
p.Asn393fs Multiple submitters congenital myasthenic syndrome 11
p.Cys97Ter Multiple submitters congenital myasthenic syndrome 11
p.Gln238Ter Multiple submitters fetal akinesia deformation sequence 1
p.Glu333Ter Multiple submitters congenital myasthenic syndrome 11
p.Glu344fs Multiple submitters fetal akinesia deformation sequence 2
p.His329_Cys330insTer Multiple submitters congenital myasthenic syndrome 11
p.Leu16fs Multiple submitters fetal akinesia deformation sequence 2
p.Met1Ile Multiple submitters fetal akinesia deformation sequence 1
p.Tyr362fs Multiple submitters congenital myasthenic syndrome 11
p.Val50fs Multiple submitters congenital myasthenic syndrome
c.1166+1G>C Single submitter congenital myasthenic syndrome 11
c.1166+2T>G Single submitter fetal akinesia deformation sequence 1
c.192+1G>A Single submitter congenital myasthenic syndrome 11
c.690+1G>A Single submitter fetal akinesia deformation sequence 2
c.912+1G>A Single submitter fetal akinesia deformation sequence 2
p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer Single submitter fetal akinesia deformation sequence 1
p.Arg42fs Single submitter congenital myasthenic syndrome 11
p.Asn321fs Single submitter congenital myasthenic syndrome
p.Cys106Ter Single submitter congenital myasthenic syndrome 11
p.Cys295Ter Single submitter congenital myasthenic syndrome 11
p.Cys355Ter Single submitter fetal akinesia deformation sequence 1
p.Cys382Ter Single submitter hydrops fetalis
p.Cys390fs Single submitter fetal akinesia deformation sequence 1
p.Gln120fs Single submitter fetal akinesia deformation sequence 1
p.Gln120Ter Single submitter fetal akinesia deformation sequence 1
p.Gln27Ter Single submitter fetal akinesia deformation sequence 1
p.Gln285Ter Single submitter
p.Gln325Ter Single submitter fetal akinesia deformation sequence 1
p.Gln3Ter Single submitter fetal akinesia deformation sequence 1
p.Gln8Ter Single submitter congenital myasthenic syndrome 11
p.Glu94fs Single submitter congenital myasthenic syndrome 11
p.Leu150fs Single submitter congenital myasthenic syndrome 11
p.Leu183fs Single submitter fetal akinesia deformation sequence 1
p.Leu219fs Single submitter fetal akinesia deformation sequence 1
p.Thr396fs Single submitter fetal akinesia deformation sequence 1
p.Trp296Ter Single submitter congenital myasthenic syndrome 11
p.Tyr179Ter Single submitter fetal akinesia deformation sequence 1
p.Tyr59Ter Single submitter fetal akinesia deformation sequence 1
p.Val32fs Single submitter fetal akinesia deformation sequence 1
p.Asn88Lys No assertion criteria congenital myasthenic syndrome 11 ⚠
p.Phe139Ser No assertion criteria fetal akinesia deformation sequence 2 ⚠
p.Tyr269Ter No assertion criteria congenital myasthenic syndrome 11

Pathogenic/Likely pathogenic 29

c.1166+1G>T Multiple submitters fetal akinesia deformation sequence 1
c.531+1G>A Multiple submitters congenital myasthenic syndrome
c.531+1G>T Multiple submitters fetal akinesia deformation sequence 2
c.966+1_966+2delinsAG Multiple submitters fetal akinesia deformation sequence 2
c.-199C>G Multiple submitters fetal akinesia deformation sequence 1
c.-210A>G Multiple submitters fetal akinesia deformation sequence 2
p.Ala142Asp Multiple submitters fetal akinesia deformation sequence 2
p.Ala246Val Multiple submitters fetal akinesia deformation sequence 2
p.Arg164Cys Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Arg164Gly Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asp4fs Multiple submitters fetal akinesia deformation sequence 2
p.Cys97fs Multiple submitters congenital myasthenic syndrome 11
p.Gln124Ter Multiple submitters fetal akinesia deformation sequence 2
p.Gln140Ter Multiple submitters fetal akinesia deformation sequence 2
p.Gln21Ter Multiple submitters fetal akinesia deformation sequence 2
p.Gln245Ter Multiple submitters fetal akinesia deformation sequence 2
p.Glu147Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu162Lys Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Glu227Ter Multiple submitters fetal akinesia deformation sequence 2
p.Gly280Ter Multiple submitters congenital myasthenic syndrome
p.His100fs Multiple submitters fetal akinesia deformation sequence 1
p.Ile70fs Multiple submitters congenital myasthenic syndrome
p.Leu14Pro Multiple submitters fetal akinesia deformation sequence 2
p.Lys373del Multiple submitters fetal akinesia deformation sequence 1
p.Met1Val Multiple submitters fetal akinesia deformation sequence 1
p.Phe185fs Multiple submitters RAPSN-related disorder
p.Trp200Ter Multiple submitters fetal akinesia deformation sequence 2
p.Val165Met Multiple submitters congenital myasthenic syndrome
p.Val45Met Multiple submitters fetal akinesia deformation sequence 2

Likely pathogenic 39

c.193-5_201del Multiple submitters congenital myasthenic syndrome 11
c.913-1G>C Multiple submitters congenital myasthenic syndrome 11
p.Arg91Cys Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Glu358fs Multiple submitters congenital myasthenic syndrome 11
p.Leu14fs Multiple submitters fetal akinesia deformation sequence 2
c.193-2A>C Single submitter congenital myasthenic syndrome
c.691-1G>A Single submitter congenital myasthenic syndrome 11
c.691-2A>G Single submitter congenital myasthenic syndrome 11
c.789+1_789+6delinsACC Single submitter congenital myasthenic syndrome
c.789+1G>C Single submitter congenital myasthenic syndrome 11
c.911_912+1dup Single submitter congenital myasthenic syndrome 11
c.967-2A>G Single submitter fetal akinesia deformation sequence 2
p.Arg116fs Single submitter congenital myasthenic syndrome 11
p.Arg403fs Single submitter fetal akinesia deformation sequence 2
p.Arg91His Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg91Pro Single submitter congenital myasthenic syndrome 11
p.Cys251_Phe252insTer Single submitter congenital myasthenic syndrome
p.Cys382fs Single submitter fetal akinesia deformation sequence 2
p.Gln175Ter Single submitter congenital myasthenic syndrome 11
p.Gln325fs Single submitter congenital myasthenic syndrome
p.Gln392Ter Single submitter fetal akinesia deformation sequence 2
p.Glu144fs Single submitter congenital myasthenic syndrome 11
p.Glu162Gly Single submitter congenital myasthenic syndrome
p.Glu191Ter Single submitter congenital myasthenic syndrome
p.Glu317fs Single submitter congenital myasthenic syndrome
p.Glu360fs Single submitter congenital myasthenic syndrome
p.Gly291Ala Single submitter fetal akinesia deformation sequence 1
p.His211fs Single submitter congenital myasthenic syndrome
p.His53fs Single submitter fetal akinesia deformation sequence 2
p.Leu247fs Single submitter fetal akinesia deformation sequence 2
p.Leu341fs Single submitter RAPSN-related disorder
p.Leu63fs Single submitter congenital myasthenic syndrome 11
p.Lys141fs Single submitter fetal akinesia deformation sequence 2
p.Ser258fs Single submitter congenital myasthenic syndrome
p.Thr115fs Single submitter congenital myasthenic syndrome
p.Thr72fs Single submitter congenital myasthenic syndrome
p.Trp29Ter Single submitter fetal akinesia deformation sequence 2
p.Tyr362Ter Single submitter congenital myasthenic syndrome
p.Val45Leu Single submitter fetal akinesia deformation sequence 1

Conflicting classifications of pathogenicity 36

c.192+12C>T Single submitter congenital myasthenic syndrome 11
c.193-15C>A Single submitter fetal akinesia deformation sequence 1
c.532-4G>A Single submitter fetal akinesia deformation sequence 1
c.690+10C>T Single submitter congenital myasthenic syndrome 11
c.691-4G>T Single submitter fetal akinesia deformation sequence 1
c.789_789+15dup Single submitter fetal akinesia deformation sequence 1
c.912+9G>A Single submitter fetal akinesia deformation sequence 1
c.912+9G>T Single submitter congenital myasthenic syndrome 11
p.Ala153Thr Single submitter fetal akinesia deformation sequence 2 ⚠
p.Ala189= Single submitter fetal akinesia deformation sequence 1
p.Ala265Val Single submitter fetal akinesia deformation sequence 2 ⚠
p.Ala301= Single submitter fetal akinesia deformation sequence 1
p.Ala347= Single submitter fetal akinesia deformation sequence 1
p.Arg164His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg221His Single submitter Inborn genetic diseases ⚠
p.Arg242Trp Single submitter congenital myasthenic syndrome ⚠
p.Arg259His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg397Gln Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg404= Single submitter congenital myasthenic syndrome 11
p.Arg91Leu Single submitter fetal akinesia deformation sequence 2 ⚠
p.Asn401= Single submitter fetal akinesia deformation sequence 1
p.Asp158= Single submitter fetal akinesia deformation sequence 1
p.Glu310Lys Single submitter Inborn genetic diseases ⚠
p.Glu333Gln Single submitter fetal akinesia deformation sequence 1
p.Glu94Lys Single submitter RAPSN-related disorder ⚠
p.Gly122Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly291Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu143= Single submitter congenital myasthenic syndrome 11
p.Leu283Pro Single submitter fetal akinesia deformation sequence 2 ⚠
p.Leu391Pro Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser208Arg Single submitter fetal akinesia deformation sequence 2 ⚠
p.Ser274Asn Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser54= Single submitter fetal akinesia deformation sequence 1
p.Val138Ile Single submitter congenital myasthenic syndrome 11 ⚠
p.Val214Met Single submitter Inborn genetic diseases ⚠
p.Val319= Single submitter fetal akinesia deformation sequence 1

Benign 17

c.1166+185G>A Multiple submitters
c.1166+278A>G Multiple submitters
c.193-15C>T Multiple submitters fetal akinesia deformation sequence 1
c.691-11del Multiple submitters fetal akinesia deformation sequence 2
c.*57C>T Multiple submitters congenital myasthenic syndrome 11
p.Gln285= Multiple submitters congenital myasthenic syndrome 11
p.Phe81Leu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro381= Multiple submitters fetal akinesia deformation sequence 2
p.Tyr152= Multiple submitters fetal akinesia deformation sequence 2
c.1166+19del Single submitter congenital myasthenic syndrome 11
c.1166+19dup Single submitter congenital myasthenic syndrome 11
c.193-120C>T Single submitter
c.532-153C>T Single submitter
c.532-218G>A Single submitter
c.913-75del Single submitter
c.966+275C>T Single submitter
c.-346T>G Single submitter

Benign/Likely benign 6

c.193-14G>A Multiple submitters congenital myasthenic syndrome 11
c.913-15A>G Multiple submitters fetal akinesia deformation sequence 1
c.*207C>A Multiple submitters congenital myasthenic syndrome 11
p.Arg205Gln Multiple submitters fetal akinesia deformation sequence 1
p.Arg58Cys Multiple submitters fetal akinesia deformation sequence 2
p.Gly320= Multiple submitters fetal akinesia deformation sequence 1

Likely benign 303

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

c.1166+16G>A Multiple submitters congenital myasthenic syndrome 11
c.1166+18G>A Multiple submitters fetal akinesia deformation sequence 1
c.1166+7G>T Multiple submitters fetal akinesia deformation sequence 1
c.192+46G>A Multiple submitters
c.690+11G>A Multiple submitters fetal akinesia deformation sequence 1
c.691-5C>T Multiple submitters congenital myasthenic syndrome 11
c.790-5T>C Multiple submitters fetal akinesia deformation sequence 1
c.912+20A>G Multiple submitters fetal akinesia deformation sequence 1
c.-72C>T Multiple submitters congenital myasthenic syndrome 11
p.Cys366= Multiple submitters fetal akinesia deformation sequence 1
p.Ile10= Multiple submitters congenital myasthenic syndrome 11
p.Ile279= Multiple submitters fetal akinesia deformation sequence 1
p.Leu192= Multiple submitters fetal akinesia deformation sequence 1
p.Ser271= Multiple submitters congenital myasthenic syndrome 11
p.Ser37= Multiple submitters congenital myasthenic syndrome 11
p.Thr30= Multiple submitters fetal akinesia deformation sequence 1
p.Thr72= Multiple submitters congenital myasthenic syndrome 11
c.1166+10C>G Single submitter fetal akinesia deformation sequence 1
c.1166+10C>T Single submitter fetal akinesia deformation sequence 1
c.1166+11C>T Single submitter congenital myasthenic syndrome 11
c.1166+13G>A Single submitter congenital myasthenic syndrome 11
c.1166+13G>C Single submitter fetal akinesia deformation sequence 1
c.1166+13G>T Single submitter fetal akinesia deformation sequence 1
c.1166+14G>A Single submitter congenital myasthenic syndrome 11
c.1166+14G>C Single submitter fetal akinesia deformation sequence 1
c.1166+15G>A Single submitter fetal akinesia deformation sequence 1
c.1166+15G>C Single submitter congenital myasthenic syndrome 11
c.1166+15G>T Single submitter fetal akinesia deformation sequence 1
c.1166+16G>T Single submitter fetal akinesia deformation sequence 1
c.1166+17G>A Single submitter fetal akinesia deformation sequence 1
c.1166+18G>C Single submitter fetal akinesia deformation sequence 1
c.1166+19G>A Single submitter fetal akinesia deformation sequence 1
c.1166+7G>A Single submitter congenital myasthenic syndrome 11
c.1167-12T>C Single submitter congenital myasthenic syndrome 11
c.1167-17G>A Single submitter fetal akinesia deformation sequence 1
c.1167-19G>A Single submitter fetal akinesia deformation sequence 1
c.1167-20A>G Single submitter fetal akinesia deformation sequence 1
c.1167-5C>T Single submitter congenital myasthenic syndrome 11
c.1167-8C>T Single submitter fetal akinesia deformation sequence 1
c.1167-9C>T Single submitter fetal akinesia deformation sequence 1
c.192+10C>A Single submitter congenital myasthenic syndrome 11
c.192+10C>T Single submitter congenital myasthenic syndrome 11
c.192+11C>T Single submitter fetal akinesia deformation sequence 1
c.192+12del Single submitter congenital myasthenic syndrome 11
c.192+13G>A Single submitter congenital myasthenic syndrome 11
c.192+17T>C Single submitter fetal akinesia deformation sequence 1
c.192+7G>A Single submitter fetal akinesia deformation sequence 1
c.192+7G>T Single submitter fetal akinesia deformation sequence 1
c.192+8T>C Single submitter fetal akinesia deformation sequence 1
c.192+9dup Single submitter fetal akinesia deformation sequence 1
c.193-103G>T Single submitter
c.193-10C>T Single submitter congenital myasthenic syndrome 11
c.193-11G>A Single submitter fetal akinesia deformation sequence 1
c.193-12C>T Single submitter fetal akinesia deformation sequence 1
c.193-16C>A Single submitter fetal akinesia deformation sequence 1
c.193-16C>T Single submitter congenital myasthenic syndrome 11
c.193-17A>C Single submitter congenital myasthenic syndrome 11
c.193-18C>T Single submitter fetal akinesia deformation sequence 1
c.193-243G>A Single submitter
c.193-4G>A Single submitter fetal akinesia deformation sequence 1
c.193-8G>T Single submitter fetal akinesia deformation sequence 1
c.531+15C>G Single submitter fetal akinesia deformation sequence 1
c.531+161T>C Single submitter
c.531+17G>A Single submitter fetal akinesia deformation sequence 1
c.531+17G>C Single submitter fetal akinesia deformation sequence 1
c.531+18G>A Single submitter fetal akinesia deformation sequence 1
c.531+19G>C Single submitter congenital myasthenic syndrome 11
c.531+20G>A Single submitter congenital myasthenic syndrome 11
c.531+23C>T Single submitter
c.531+7C>G Single submitter fetal akinesia deformation sequence 1
c.531+8T>G Single submitter fetal akinesia deformation sequence 1
c.532-12T>C Single submitter fetal akinesia deformation sequence 1
c.532-17T>C Single submitter fetal akinesia deformation sequence 1
c.532-19C>T Single submitter congenital myasthenic syndrome 11
c.532-37A>C Single submitter
c.532-5T>C Single submitter fetal akinesia deformation sequence 1
c.532-8C>T Single submitter fetal akinesia deformation sequence 1
c.690+10C>G Single submitter fetal akinesia deformation sequence 1
c.690+14G>A Single submitter fetal akinesia deformation sequence 1
c.690+175G>T Single submitter
c.690+18G>A Single submitter congenital myasthenic syndrome 11
c.690+19G>A Single submitter fetal akinesia deformation sequence 1
c.690+46G>A Single submitter
c.691-10del Single submitter fetal akinesia deformation sequence 1
c.691-11C>T Single submitter fetal akinesia deformation sequence 1
c.691-16C>G Single submitter congenital myasthenic syndrome 11
c.691-20G>A Single submitter fetal akinesia deformation sequence 1
c.691-4G>A Single submitter congenital myasthenic syndrome 11
c.691-7C>A Single submitter fetal akinesia deformation sequence 1
c.691-7del Single submitter fetal akinesia deformation sequence 1
c.789+11C>G Single submitter fetal akinesia deformation sequence 1
c.789+11C>T Single submitter fetal akinesia deformation sequence 1
c.789+12G>A Single submitter fetal akinesia deformation sequence 1
c.789+17G>A Single submitter fetal akinesia deformation sequence 1
c.789+17G>T Single submitter fetal akinesia deformation sequence 1
c.789+8C>G Single submitter fetal akinesia deformation sequence 1
c.790-12C>G Single submitter fetal akinesia deformation sequence 1
c.790-13C>T Single submitter fetal akinesia deformation sequence 1
c.790-15C>A Single submitter fetal akinesia deformation sequence 1
c.790-15C>G Single submitter congenital myasthenic syndrome 11
c.790-15C>T Single submitter congenital myasthenic syndrome 11
c.790-17C>G Single submitter fetal akinesia deformation sequence 1
c.790-17C>T Single submitter fetal akinesia deformation sequence 1
c.790-19C>A Single submitter fetal akinesia deformation sequence 1
c.790-6C>T Single submitter fetal akinesia deformation sequence 1
c.790-9G>C Single submitter congenital myasthenic syndrome 11
c.912+11G>A Single submitter congenital myasthenic syndrome 11
c.912+11G>T Single submitter fetal akinesia deformation sequence 1
c.912+15T>C Single submitter fetal akinesia deformation sequence 1
c.912+18C>T Single submitter fetal akinesia deformation sequence 1
c.912+8C>T Single submitter fetal akinesia deformation sequence 1
c.912+9G>C Single submitter fetal akinesia deformation sequence 1
c.913-10C>T Single submitter congenital myasthenic syndrome 11
c.913-18C>T Single submitter fetal akinesia deformation sequence 1
c.913-4C>T Single submitter fetal akinesia deformation sequence 1
c.913-7del Single submitter fetal akinesia deformation sequence 1
c.913-8C>A Single submitter congenital myasthenic syndrome 11
c.966+14C>G Single submitter fetal akinesia deformation sequence 1
c.966+16G>A Single submitter congenital myasthenic syndrome 11
c.966+19T>C Single submitter fetal akinesia deformation sequence 1
c.966+7C>G Single submitter fetal akinesia deformation sequence 1
c.966+7C>T Single submitter fetal akinesia deformation sequence 1
c.967-10C>T Single submitter congenital myasthenic syndrome 11
c.967-19C>G Single submitter congenital myasthenic syndrome 11
c.967-20T>C Single submitter fetal akinesia deformation sequence 1
c.967-4C>G Single submitter fetal akinesia deformation sequence 1
c.967-5C>A Single submitter fetal akinesia deformation sequence 1
c.967-5C>T Single submitter fetal akinesia deformation sequence 1
c.967-6C>A Single submitter congenital myasthenic syndrome 11
c.967-7G>A Single submitter fetal akinesia deformation sequence 1
c.967-7G>C Single submitter congenital myasthenic syndrome 11
c.967-7G>T Single submitter fetal akinesia deformation sequence 1
c.967-9G>C Single submitter fetal akinesia deformation sequence 1
p.Ala119= Single submitter fetal akinesia deformation sequence 1
p.Ala149= Single submitter fetal akinesia deformation sequence 1
p.Ala153= Single submitter fetal akinesia deformation sequence 1
p.Ala153Ser Single submitter congenital myasthenic syndrome 11
p.Ala174= Single submitter fetal akinesia deformation sequence 1
p.Ala190= Single submitter fetal akinesia deformation sequence 1
p.Ala213= Single submitter congenital myasthenic syndrome 11
p.Ala215= Single submitter fetal akinesia deformation sequence 1
p.Ala225= Single submitter fetal akinesia deformation sequence 1
p.Ala236= Single submitter fetal akinesia deformation sequence 1
p.Ala246= Single submitter congenital myasthenic syndrome 11
p.Ala25= Single submitter fetal akinesia deformation sequence 1
p.Ala272= Single submitter fetal akinesia deformation sequence 1
p.Ala288= Single submitter fetal akinesia deformation sequence 1
p.Ala298= Single submitter congenital myasthenic syndrome 11
p.Ala305= Single submitter fetal akinesia deformation sequence 1
p.Ala308= Single submitter congenital myasthenic syndrome 11
p.Ala316= Single submitter congenital myasthenic syndrome 11
p.Ala379= Single submitter fetal akinesia deformation sequence 1
p.Ala52= Single submitter fetal akinesia deformation sequence 1
p.Ala66= Single submitter congenital myasthenic syndrome 11
p.Ala73= Single submitter fetal akinesia deformation sequence 1
p.Ala79= Single submitter congenital myasthenic syndrome 11
p.Arg164= Single submitter fetal akinesia deformation sequence 1
p.Arg221= Single submitter congenital myasthenic syndrome 11
p.Arg242= Single submitter fetal akinesia deformation sequence 1
p.Arg282= Single submitter fetal akinesia deformation sequence 1
p.Arg299= Single submitter fetal akinesia deformation sequence 1
p.Arg346= Single submitter congenital myasthenic syndrome 11
p.Arg376= Single submitter fetal akinesia deformation sequence 1
p.Arg397= Single submitter congenital myasthenic syndrome 11
p.Arg397Trp Single submitter fetal akinesia deformation sequence 1
p.Arg42= Single submitter congenital myasthenic syndrome 11
p.Arg44= Single submitter fetal akinesia deformation sequence 1
p.Arg58= Single submitter fetal akinesia deformation sequence 1
p.Arg91= Single submitter fetal akinesia deformation sequence 1
p.Asn394= Single submitter fetal akinesia deformation sequence 1
p.Asn93= Single submitter congenital myasthenic syndrome 11
p.Asp157= Single submitter fetal akinesia deformation sequence 1
p.Asp241= Single submitter fetal akinesia deformation sequence 1
p.Asp261= Single submitter fetal akinesia deformation sequence 1
p.Cys109= Single submitter fetal akinesia deformation sequence 1
p.Cys163= Single submitter fetal akinesia deformation sequence 1
p.Cys248= Single submitter congenital myasthenic syndrome 11
p.Cys355= Single submitter congenital myasthenic syndrome 11
p.Cys363= Single submitter fetal akinesia deformation sequence 1
p.Cys390= Single submitter fetal akinesia deformation sequence 1
p.Gln120= Single submitter fetal akinesia deformation sequence 1
p.Gln18= Single submitter fetal akinesia deformation sequence 1
p.Gln238= Single submitter fetal akinesia deformation sequence 1
p.Gln245= Single submitter fetal akinesia deformation sequence 1
p.Gln325= Single submitter congenital myasthenic syndrome 11
p.Gln392= Single submitter fetal akinesia deformation sequence 1
p.Gln9= Single submitter congenital myasthenic syndrome 11
p.Glu147= Single submitter fetal akinesia deformation sequence 1
p.Glu191= Single submitter congenital myasthenic syndrome 11
p.Glu278= Single submitter fetal akinesia deformation sequence 1
p.Glu333= Single submitter fetal akinesia deformation sequence 1
p.Glu34= Single submitter congenital myasthenic syndrome 11
p.Glu357= Single submitter fetal akinesia deformation sequence 1
p.Glu358= Single submitter congenital myasthenic syndrome 11
p.Glu372= Single submitter fetal akinesia deformation sequence 1
p.Glu61= Single submitter fetal akinesia deformation sequence 1
p.Glu75= Single submitter congenital myasthenic syndrome 11
p.Glu94= Single submitter congenital myasthenic syndrome 11
p.Glu98= Single submitter congenital myasthenic syndrome 11
p.Gly111= Single submitter fetal akinesia deformation sequence 1
p.Gly118= Single submitter fetal akinesia deformation sequence 1
p.Gly123= Single submitter fetal akinesia deformation sequence 1
p.Gly13= Single submitter fetal akinesia deformation sequence 1
p.Gly170= Single submitter congenital myasthenic syndrome 11
p.Gly2= Single submitter congenital myasthenic syndrome 11
p.Gly223= Single submitter fetal akinesia deformation sequence 1
p.Gly340= Single submitter fetal akinesia deformation sequence 1
p.Gly364= Single submitter fetal akinesia deformation sequence 1
p.Gly395= Single submitter fetal akinesia deformation sequence 1
p.Gly41= Single submitter fetal akinesia deformation sequence 1
p.Gly47= Single submitter fetal akinesia deformation sequence 1
p.Gly57= Single submitter fetal akinesia deformation sequence 1
p.His239= Single submitter fetal akinesia deformation sequence 1
p.His256= Single submitter fetal akinesia deformation sequence 1
p.His329= Single submitter fetal akinesia deformation sequence 1
p.His348= Single submitter fetal akinesia deformation sequence 1
p.His353= Single submitter congenital myasthenic syndrome 11
p.Ile235= Single submitter fetal akinesia deformation sequence 1
p.Ile255= Single submitter fetal akinesia deformation sequence 1
p.Ile275= Single submitter congenital myasthenic syndrome 11
p.Ile309= Single submitter congenital myasthenic syndrome 11
p.Ile385= Single submitter congenital myasthenic syndrome 11
p.Ile70= Single submitter fetal akinesia deformation sequence 1
p.Leu112= Single submitter congenital myasthenic syndrome 11
p.Leu121= Single submitter fetal akinesia deformation sequence 1
p.Leu127= Single submitter congenital myasthenic syndrome 11
p.Leu136= Single submitter fetal akinesia deformation sequence 1
p.Leu150= Single submitter congenital myasthenic syndrome 11
p.Leu16= Single submitter fetal akinesia deformation sequence 1
p.Leu161= Single submitter fetal akinesia deformation sequence 1
p.Leu183= Single submitter fetal akinesia deformation sequence 1
p.Leu222= Single submitter congenital myasthenic syndrome 11
p.Leu237= Single submitter fetal akinesia deformation sequence 1
p.Leu249= Single submitter fetal akinesia deformation sequence 1
p.Leu250= Single submitter fetal akinesia deformation sequence 1
p.Leu26= Single submitter fetal akinesia deformation sequence 1
p.Leu262= Single submitter fetal akinesia deformation sequence 1
p.Leu283= Single submitter fetal akinesia deformation sequence 1
p.Leu289= Single submitter fetal akinesia deformation sequence 1
p.Leu290= Single submitter fetal akinesia deformation sequence 1
p.Leu306= Single submitter fetal akinesia deformation sequence 1
p.Leu328= Single submitter fetal akinesia deformation sequence 1
p.Leu33= Single submitter fetal akinesia deformation sequence 1
p.Leu331= Single submitter fetal akinesia deformation sequence 1
p.Leu345= Single submitter fetal akinesia deformation sequence 1
p.Leu377= Single submitter fetal akinesia deformation sequence 1
p.Leu380= Single submitter fetal akinesia deformation sequence 1
p.Leu388= Single submitter congenital myasthenic syndrome 11
p.Leu39= Single submitter fetal akinesia deformation sequence 1
p.Leu391= Single submitter congenital myasthenic syndrome 11
p.Leu63= Single submitter congenital myasthenic syndrome 11
p.Leu76= Single submitter congenital myasthenic syndrome 11
p.Leu82= Single submitter fetal akinesia deformation sequence 1
p.Leu83= Single submitter fetal akinesia deformation sequence 1
p.Leu87= Single submitter fetal akinesia deformation sequence 1
p.Leu89= Single submitter fetal akinesia deformation sequence 1
p.Leu96= Single submitter fetal akinesia deformation sequence 1
p.Lys107= Single submitter congenital myasthenic syndrome 11
p.Lys141= Single submitter congenital myasthenic syndrome 11
p.Lys203= Single submitter fetal akinesia deformation sequence 1
p.Lys339= Single submitter congenital myasthenic syndrome 11
p.Lys35= Single submitter fetal akinesia deformation sequence 1
p.Lys373= Single submitter fetal akinesia deformation sequence 1
p.Lys60= Single submitter congenital myasthenic syndrome 11
p.Phe146= Single submitter fetal akinesia deformation sequence 1
p.Phe252= Single submitter congenital myasthenic syndrome 11
p.Phe266= Single submitter congenital myasthenic syndrome 11
p.Phe65= Single submitter congenital myasthenic syndrome 11
p.Pro113= Single submitter fetal akinesia deformation sequence 1
p.Pro186= Single submitter fetal akinesia deformation sequence 1
p.Pro243= Single submitter fetal akinesia deformation sequence 1
p.Ser104= Single submitter congenital myasthenic syndrome 11
p.Ser137= Single submitter fetal akinesia deformation sequence 1
p.Ser168= Single submitter congenital myasthenic syndrome 11
p.Ser258= Single submitter fetal akinesia deformation sequence 1
p.Ser274= Single submitter fetal akinesia deformation sequence 1
p.Ser324= Single submitter fetal akinesia deformation sequence 1
p.Ser332= Single submitter fetal akinesia deformation sequence 1
p.Ser334= Single submitter fetal akinesia deformation sequence 1
p.Ser36= Single submitter fetal akinesia deformation sequence 1
p.Ser383= Single submitter fetal akinesia deformation sequence 1
p.Ser398= Single submitter fetal akinesia deformation sequence 1
p.Ser406= Single submitter fetal akinesia deformation sequence 1
p.Thr115= Single submitter fetal akinesia deformation sequence 1
p.Thr22= Single submitter fetal akinesia deformation sequence 1
p.Thr277= Single submitter congenital myasthenic syndrome 11
p.Thr359= Single submitter congenital myasthenic syndrome 11
p.Tyr179= Single submitter fetal akinesia deformation sequence 1
p.Tyr204= Single submitter congenital myasthenic syndrome 11
p.Tyr210= Single submitter fetal akinesia deformation sequence 1
p.Tyr216= Single submitter congenital myasthenic syndrome 11
p.Tyr269= Single submitter fetal akinesia deformation sequence 1
p.Tyr362= Single submitter fetal akinesia deformation sequence 1
p.Tyr86= Single submitter congenital myasthenic syndrome 11
p.Val125= Single submitter congenital myasthenic syndrome 11
p.Val165= Single submitter fetal akinesia deformation sequence 1
p.Val176= Single submitter congenital myasthenic syndrome 11
p.Val32= Single submitter fetal akinesia deformation sequence 1
p.Val349= Single submitter congenital myasthenic syndrome 11
p.Val350= Single submitter congenital myasthenic syndrome 11

Uncertain significance 236

c.912+6G>A Multiple submitters fetal akinesia deformation sequence 1
c.-23G>A Multiple submitters fetal akinesia deformation sequence 1
p.Ala149Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala159Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala236Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala253Thr Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Ala265Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala272Thr Multiple submitters fetal akinesia deformation sequence 1
p.Ala288Val Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala301Val Multiple submitters Inborn genetic diseases ⚠
p.Ala66Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg151Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg217Cys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Arg217His Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg259Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg282Cys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Arg337His Multiple submitters Inborn genetic diseases ⚠
p.Arg346Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg376Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg376Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg376Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg404Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg42Cys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Arg74Gln Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asn194Ser Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asn20Ile Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asn394His Multiple submitters Inborn genetic diseases ⚠
p.Asn394Ser Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asp158Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp254Asn Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asp261Asn Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asp270Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp303Glu Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asp78Asn Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Asp78Val Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asp80Asn Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Cys97Tyr Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Gln120His Multiple submitters Inborn genetic diseases ⚠
p.Glu11Asp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu180Lys Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Glu227Gly Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu278Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu317Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu333Lys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Glu372Gly Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly223Ser Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Gly240Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly280Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly364Ser Multiple submitters congenital myasthenic syndrome 11
p.Gly367Ser Multiple submitters Inborn genetic diseases
p.Gly47Asp Multiple submitters congenital myasthenic syndrome 11 ⚠
p.His329Tyr Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Ile10Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile309Ser Multiple submitters Inborn genetic diseases
p.Leu283Val Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Leu89Val Multiple submitters fetal akinesia deformation sequence 1
p.Lys24Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys60Gln Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Met160Thr Multiple submitters Inborn genetic diseases ⚠
p.Met407Ile Multiple submitters fetal akinesia deformation sequence 2 ⚠
p.Ser104Ala Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ser274Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser332Arg Multiple submitters congenital myasthenic syndrome 11
p.Thr359Met Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Thr72Met Multiple submitters Inborn genetic diseases ⚠
p.Trp200Cys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Tyr59Cys Multiple submitters congenital myasthenic syndrome 11 ⚠
p.Val297Met Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val356Met Multiple submitters Inborn genetic diseases ⚠
p.Val68Ile Multiple submitters Inborn genetic diseases ⚠
c.192+5G>T Single submitter fetal akinesia deformation sequence 1
c.690+14G>T Single submitter fetal akinesia deformation sequence 1
c.690+4G>A Single submitter fetal akinesia deformation sequence 1
c.691-2_732dup Single submitter fetal akinesia deformation sequence 1
c.789+4A>T Single submitter
c.966+4A>G Single submitter
c.-113C>T Single submitter congenital myasthenic syndrome 11
c.-118C>A Single submitter congenital myasthenic syndrome 11
c.-121C>T Single submitter congenital myasthenic syndrome 11
c.-78G>A Single submitter congenital myasthenic syndrome 11
c.*16G>A Single submitter congenital myasthenic syndrome 11
c.*211G>A Single submitter congenital myasthenic syndrome 11
c.*80G>C Single submitter congenital myasthenic syndrome 11
p.Ala174Val Single submitter Inborn genetic diseases ⚠
p.Ala189Gly Single submitter congenital myasthenic syndrome 11
p.Ala189Val Single submitter fetal akinesia deformation sequence 2 ⚠
p.Ala190Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala225Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala25Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala25Ser Single submitter congenital myasthenic syndrome 11 ⚠
p.Ala272Val Single submitter ⚠
p.Ala312Thr Single submitter congenital myasthenic syndrome 11
p.Ala312Val Single submitter congenital myasthenic syndrome 11
p.Ala347Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala347Val Single submitter Inborn genetic diseases ⚠
p.Ala73Asp Single submitter ⚠
p.Arg151His Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg205Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg221Cys Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg242Gln Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg242Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg242Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg257Gln Single submitter fetal akinesia deformation sequence 1
p.Arg257Gly Single submitter Inborn genetic diseases ⚠
p.Arg257Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg259Gly Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg268Met Single submitter fetal akinesia deformation sequence 2 ⚠
p.Arg282His Single submitter Inborn genetic diseases ⚠
p.Arg282Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg337Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg343Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg343Trp Single submitter Inborn genetic diseases ⚠
p.Arg346Pro Single submitter Inborn genetic diseases ⚠
p.Arg351Lys Single submitter fetal akinesia deformation sequence 2 ⚠
p.Arg389= Single submitter congenital myasthenic syndrome 11
p.Arg403Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg404His Single submitter Inborn genetic diseases ⚠
p.Arg42His Single submitter congenital myasthenic syndrome 11 ⚠
p.Arg42Leu Single submitter
p.Arg44Cys Single submitter congenital myasthenic syndrome ⚠
p.Arg58His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg74Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn401Lys Single submitter congenital myasthenic syndrome 11 ⚠
p.Asp158del Single submitter congenital myasthenic syndrome 11
p.Asp178Gly Single submitter ⚠
p.Asp270Gly Single submitter
p.Asp307His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asp71Asn Single submitter congenital myasthenic syndrome 11
p.Asp78Glu Single submitter Inborn genetic diseases ⚠
p.Cys106Arg Single submitter congenital myasthenic syndrome 11 ⚠
p.Cys106Tyr Single submitter congenital myasthenic syndrome 11 ⚠
p.Cys109Gly Single submitter fetal akinesia deformation sequence 1
p.Cys187Gly Single submitter Inborn genetic diseases ⚠
p.Cys330Arg Single submitter fetal akinesia deformation sequence 1
p.Cys382Arg Single submitter
p.Gln15Lys Single submitter congenital myasthenic syndrome 11 ⚠
p.Gln342Arg Single submitter Inborn genetic diseases ⚠
p.Gln5His Single submitter Inborn genetic diseases ⚠
p.Gln69Arg Single submitter ⚠
p.Gln69Glu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gln8Lys Single submitter congenital myasthenic syndrome 11 ⚠
p.Glu227Ala Single submitter Inborn genetic diseases ⚠
p.Glu344Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu34Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu354Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu357Gln Single submitter fetal akinesia deformation sequence 1
p.Glu368Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu372Lys Single submitter fetal akinesia deformation sequence 1
p.Glu84Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu94Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly135Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly13Glu Single submitter ⚠
p.Gly199Cys Single submitter congenital myasthenic syndrome 11 ⚠
p.Gly223Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly284Arg Single submitter congenital myasthenic syndrome 11 ⚠
p.Gly367= Single submitter congenital myasthenic syndrome 11
p.Gly371= Single submitter congenital myasthenic syndrome 11
p.Gly395Arg Single submitter ⚠
p.Gly395Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly57Arg Single submitter ⚠
p.His239Tyr Single submitter Inborn genetic diseases ⚠
p.His384Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.His53Tyr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ile279Met Single submitter congenital myasthenic syndrome 11 ⚠
p.Leu110Phe Single submitter congenital myasthenic syndrome 11 ⚠
p.Leu127Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu14Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu169Pro Single submitter ⚠
p.Leu183Arg Single submitter Inborn genetic diseases ⚠
p.Leu192Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu244Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu262Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu306Pro Single submitter ⚠
p.Leu326Phe Single submitter congenital myasthenic syndrome 11 ⚠
p.Leu345Pro Single submitter Inborn genetic diseases ⚠
p.Leu361Val Single submitter congenital myasthenic syndrome 11
p.Leu377Arg Single submitter ⚠
p.Leu39Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu39Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu82Pro Single submitter ⚠
p.Leu83Gln Single submitter congenital myasthenic syndrome 11 ⚠
p.Lys101Arg Single submitter Inborn genetic diseases ⚠
p.Lys188Arg Single submitter congenital myasthenic syndrome 11 ⚠
p.Lys304= Single submitter fetal akinesia deformation sequence 1
p.Lys322Asn Single submitter ⚠
p.Met207Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Met207Val Single submitter Inborn genetic diseases ⚠
p.Met212Arg Single submitter ⚠
p.Met212Val Single submitter Inborn genetic diseases
p.Met226Lys Single submitter congenital myasthenic syndrome 11
p.Met233Val Single submitter ⚠
p.Met273Arg Single submitter Inborn genetic diseases
p.Met273Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Met276Val Single submitter Inborn genetic diseases
p.Pro267Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser128Arg Single submitter Inborn genetic diseases ⚠
p.Ser201Arg Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser224Asn Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser224dup Single submitter fetal akinesia deformation sequence 1
p.Ser37Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser383Cys Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser406Thr Single submitter congenital myasthenic syndrome 11 ⚠
p.Ser54Leu Single submitter congenital myasthenic syndrome 11
p.Thr22Ile Single submitter ⚠
p.Tyr105Cys Single submitter ⚠
p.Tyr17Ser Single submitter congenital myasthenic syndrome 11 ⚠
p.Tyr59His Single submitter congenital myasthenic syndrome 11 ⚠
p.Val28Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Val292Met Single submitter Inborn genetic diseases ⚠
p.Val349Ile Single submitter fetal akinesia deformation sequence 2 ⚠
c.1166+8C>T No assertion criteria congenital myasthenic syndrome
c.789+5G>A No assertion criteria congenital myasthenic syndrome
c.967-8G>A No assertion criteria congenital myasthenic syndrome
p.Ala132Val No assertion criteria RAPSN-related disorder ⚠
p.Ala272Ser No assertion criteria congenital myasthenic syndrome ⚠
p.Arg337Gly No assertion criteria congenital myasthenic syndrome ⚠
p.Arg403His No assertion criteria congenital myasthenic syndrome ⚠
p.Asn155= No assertion criteria congenital myasthenic syndrome
p.Asn155Asp No assertion criteria congenital myasthenic syndrome ⚠
p.Asn393Lys No assertion criteria congenital myasthenic syndrome ⚠
p.Cys187Ser No assertion criteria congenital myasthenic syndrome ⚠
p.Cys228Arg No assertion criteria congenital myasthenic syndrome ⚠
p.Gln18Arg No assertion criteria congenital myasthenic syndrome ⚠
p.Gln313= No assertion criteria congenital myasthenic syndrome
p.Gln5Arg No assertion criteria congenital myasthenic syndrome ⚠
p.Glu84Gly No assertion criteria congenital myasthenic syndrome ⚠
p.Gly220Asp No assertion criteria congenital myasthenic syndrome ⚠
p.His256Arg No assertion criteria congenital myasthenic syndrome ⚠
p.Leu202Arg No assertion criteria congenital myasthenic syndrome
p.Leu202Pro No assertion criteria congenital myasthenic syndrome ⚠
p.Leu237Val No assertion criteria congenital myasthenic syndrome
p.Lys31Glu No assertion criteria congenital myasthenic syndrome ⚠
p.Lys373Glu No assertion criteria congenital myasthenic syndrome ⚠
p.Phe184Leu No assertion criteria congenital myasthenic syndrome ⚠
p.Thr6Asn No assertion criteria congenital myasthenic syndrome ⚠
p.Val138Leu No assertion criteria congenital myasthenic syndrome ⚠