DOK7 — 1181 ClinVar variants

All ClinVar germline DOK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 403 flagged for review →

50 Pathogenic · 19 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 59 Conflicting · 93 Benign · 25 Benign/Likely benign · 492 Likely benign · 390 Uncertain significance

Full DOK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 403

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DOK7 p.Pro67Ser Pathogenic No assertion criteria
congenital myasthenic syndrome 10

Predictors agree, ClinVar conflicts 28

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

DOK7 p.Ala251Glu Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Ala302Pro Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Ala307Pro Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Ala440Thr Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala99Val Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg158Trp Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg261Gly Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg280Gln Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Arg451Gln Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Asn501Lys Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly109Ser Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly161Arg Conflicting Single submitter
fetal akinesia deformation sequence 3
DOK7 p.Gly166Arg Conflicting Single submitter
fetal akinesia deformation sequence 3
DOK7 p.Gly223Glu Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Gly391Arg Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly427Ser Conflicting Single submitter
Inborn genetic diseases
DOK7 p.His272Gln Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Lys28Gln Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro222Leu Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro420Ala Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro421Arg Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro443Ser Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ser336Leu Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Ser429Gly Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Thr226Ala Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Thr438Arg Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Val32Met Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Val494Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 230

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 230

DOK7 p.Ala277Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala356Glu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala380Asp Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ala380Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ala380Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ala403Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ala430Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala458Asp Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ala482Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ala482Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg159Cys Uncertain significance Multiple submitters
DOK7 p.Arg213Gln Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg244Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg432Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Arg452Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg52Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg54Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Asp274Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Cys492Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gln305Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gln423Arg Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gln460Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Glu286Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Glu368Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Glu3Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Glu463Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Glu463Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly208Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gly308Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly391Glu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gly436Arg Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gly436Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly441Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly479Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Gly483Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly496Ala Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Gly496Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.His345Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ile199Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Leu239Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Leu51Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Lys12Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Lys17Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Lys499Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Met311Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Met456Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro217Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Pro219Ala Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Pro221Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro324Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro381Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Pro415Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro420Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro420Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro421His Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro471Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro484Leu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Pro486Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser225Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser225Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser256Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser266Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser334Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser410Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Thr294Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Thr407Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Thr465Ala Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Trp475Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Tyr71Phe Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala107Glu Uncertain significance Single submitter
DOK7 p.Ala147Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala283Thr Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala292Val Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala303Thr Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ala314Val Uncertain significance Single submitter
DOK7 p.Ala33Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala33Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala356Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala356Thr Uncertain significance Single submitter
DOK7 p.Ala365Asp Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ala380Gly Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala380Pro Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala430Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala431Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala440Ser Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala458Val Uncertain significance Single submitter
DOK7 p.Ala477Gly Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ala482Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala487Pro Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ala487Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala487Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ala96Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Arg159His Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg174Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg213Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg213Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg22Lys Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg253Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg300Thr Uncertain significance Single submitter
DOK7 p.Arg316Gly Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg316Ser Uncertain significance Single submitter
DOK7 p.Arg325Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg364Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg47Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Asn501His Uncertain significance Single submitter
DOK7 p.Asp101Gly Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Asp218Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Asp218Glu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Asp259Ala Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Asp260Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Asp337Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Asp34Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Asp361Glu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Asp417Glu Uncertain significance Single submitter
DOK7 p.Cys175Trp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Cys198Trp Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Cys495Gly Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Cys98Ser Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gln296Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gln328Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gln328Pro Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu229Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Glu269Gln Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu286Gln Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu329Asp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu382Ala Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu394Gln Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Glu457Asp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu463Gln Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Glu95Lys Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly109Asp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly171Asp Uncertain significance Single submitter
DOK7 p.Gly189Trp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly298Glu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly313Ser Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly339Ala Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly370Ala Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly427Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly436Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly441Glu Uncertain significance Single submitter
DOK7 p.Gly453Ser Uncertain significance Single submitter
DOK7 p.Gly479Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly64Arg Uncertain significance Single submitter
DOK7 p.His132Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.His272Tyr Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.His345Arg Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.His345Leu Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.His404Arg Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ile48Thr Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ile62Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10

Predictors split 144

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

DOK7 p.Ala251Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ala33Ser Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala356Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg103Gln Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg105His Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg261Cys Benign Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg280Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Arg323Cys Benign Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg323His Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Arg325Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg332Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg364Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg402Trp Benign/Likely benign Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg409Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Arg409His Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Arg451Trp Benign Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Arg452Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Asp406Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Glu110Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Glu188Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Glu229Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Glu229Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Glu394Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Glu473Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Glu60Lys Benign/Likely benign Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Glu72Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly468Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Gly483Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Leu138Ile Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Leu154Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Leu195Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Leu212Pro Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Pro128Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Pro146Leu Pathogenic/Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 3
DOK7 p.Pro209Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro318Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro319Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Pro390Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Pro390Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ser193Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser204Tyr Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser290Leu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ser293Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser346Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Ser353Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser45Leu Benign/Likely benign Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Ser490Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Thr294Met Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Thr438Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Thr58Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 10
DOK7 p.Thr77Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Tyr405Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Val11Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOK7 p.Val139Ile Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Val139Leu Likely pathogenic Multiple submitters
fetal akinesia deformation sequence 3
DOK7 p.Val362Met Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
DOK7 p.Ala107Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ala119Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala129Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ala310Thr Uncertain significance Single submitter
DOK7 p.Ala378Val Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Arg105Cys Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg201Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg213Trp Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Arg332His Uncertain significance Single submitter
DOK7 p.Arg402Gln Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg402Pro Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Arg416Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Arg432Lys Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Arg450Ile Uncertain significance Single submitter
DOK7 p.Arg47Ser Uncertain significance Single submitter
DOK7 p.Arg52Trp Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Arg54Cys Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Arg54His Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Asp15Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Asp417Tyr Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Cys442Tyr Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Glu228Lys Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Glu228Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Glu237Lys Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Glu286Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Glu297Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly127Ser Conflicting Single submitter
fetal akinesia deformation sequence 3
DOK7 p.Gly16Arg Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly16Cys Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Gly339Ser Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Gly391Trp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly427Asp Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly468Cys Uncertain significance Single submitter
DOK7 p.Gly478Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Gly478Cys Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Gly497Arg Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Gly68Ser Conflicting Single submitter
Inborn genetic diseases
DOK7 p.His418Tyr Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ile144Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ile340Val Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Leu154Met Uncertain significance Single submitter
DOK7 p.Leu157Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Leu248Val Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Leu411Phe Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Lys153Thr Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Lys499Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Met88Ile Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Met97Val Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro128Arg Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro164Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro205Leu Uncertain significance Single submitter
DOK7 p.Pro209Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro214Leu Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Pro319His Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Pro321Gln Uncertain significance Single submitter
DOK7 p.Pro321Leu Likely benign Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro390Ser Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Pro459His Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Pro469His Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro484Gln Uncertain significance Single submitter
DOK7 p.Pro493Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Pro503Thr Conflicting Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ser193Asn Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ser225Trp Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ser265Asn Uncertain significance Single submitter
DOK7 p.Ser271Thr Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Ser289Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser344Gly Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ser346Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser350Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser350Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser359Arg Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Ser384Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser55Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Ser55Gly Conflicting Single submitter
Inborn genetic diseases
DOK7 p.Thr122Ser Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Thr173Ser Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Thr282Ile Uncertain significance Single submitter
DOK7 p.Thr294Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Thr449Met Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Thr465Ile Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Thr77Met Conflicting Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Tyr106Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Val11Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Val215Phe Uncertain significance Single submitter
Inborn genetic diseases
DOK7 p.Val455Met Uncertain significance Single submitter
fetal akinesia deformation sequence 1
DOK7 p.Val81Leu Uncertain significance Single submitter
congenital myasthenic syndrome 10
DOK7 p.Ser354Phe Pathogenic No assertion criteria
congenital myasthenic syndrome 10

All DOK7 variants

Pathogenic 50

c.331+1G>T Multiple submitters fetal akinesia deformation sequence 3
p.Ala378fs Multiple submitters Fetal anomalies with a likely genetic cause
p.Ala380fs Multiple submitters congenital myasthenic syndrome 10
p.Arg158Gln Multiple submitters congenital myasthenic syndrome 10
p.Arg201Ter Multiple submitters congenital myasthenic syndrome 10
p.Asp433fs Multiple submitters congenital myasthenic syndrome 10
p.Cys412Ter Multiple submitters fetal akinesia deformation sequence 1
p.Gln460Ter Multiple submitters fetal akinesia deformation sequence 1
p.Gly448fs Multiple submitters congenital myasthenic syndrome 10
p.Lys320fs Multiple submitters fetal akinesia deformation sequence 1
p.Tyr160Ter Multiple submitters fetal akinesia deformation sequence 1
c.464_533-4296del Single submitter
c.772+2_772+4delinsCCGGGCAGGCGGGCA Single submitter fetal akinesia deformation sequence 1
c.773-2A>G Single submitter fetal akinesia deformation sequence 3
p.Ala162fs Single submitter congenital myasthenic syndrome 10
p.Ala458fs Single submitter fetal akinesia deformation sequence 1
p.Arg450fs Single submitter fetal akinesia deformation sequence 1
p.Asn428fs Single submitter fetal akinesia deformation sequence 1
p.Asp143fs Single submitter fetal akinesia deformation sequence 1
p.Gln10Ter Single submitter fetal akinesia deformation sequence 1
p.Gln240Ter Single submitter congenital myasthenic syndrome 10
p.Gln326fs Single submitter congenital myasthenic syndrome 10
p.Gln437fs Single submitter congenital myasthenic syndrome 10
p.Glu269fs Single submitter fetal akinesia deformation sequence 1
p.Glu309fs Single submitter congenital myasthenic syndrome 10
p.Glu382Ter Single submitter congenital myasthenic syndrome 10
p.Glu463Ter Single submitter congenital myasthenic syndrome 10
p.Gly166Ter Single submitter congenital myasthenic syndrome 10
p.Gly472fs Single submitter fetal akinesia deformation sequence 1
p.Leu24fs Single submitter fetal akinesia deformation sequence 1
p.Leu385fs Single submitter congenital myasthenic syndrome 10
p.Leu454fs Single submitter fetal akinesia deformation sequence 1
p.Lys153Ter Single submitter fetal akinesia deformation sequence 1
p.Lys320Ter Single submitter fetal akinesia deformation sequence 1
p.Met456fs Single submitter congenital myasthenic syndrome 10
p.Pro224fs Single submitter congenital myasthenic syndrome 10
p.Pro299fs Single submitter congenital myasthenic syndrome 10
p.Ser155fs Single submitter fetal akinesia deformation sequence 1
p.Ser225Ter Single submitter fetal akinesia deformation sequence 1
p.Ser347fs Single submitter fetal akinesia deformation sequence 1
p.Ser354fs Single submitter fetal akinesia deformation sequence 1
p.Ser419fs Single submitter congenital myasthenic syndrome 10
p.Thr438fs Single submitter fetal akinesia deformation sequence 1
p.Trp100fs Single submitter fetal akinesia deformation sequence 1
p.Trp100Ter Single submitter fetal akinesia deformation sequence 1
p.Tyr106Ter Single submitter congenital myasthenic syndrome 10
p.Tyr177fs Single submitter fetal akinesia deformation sequence 1
c.55-1G>T No assertion criteria congenital myasthenic syndrome 10
p.Pro67Ser No assertion criteria congenital myasthenic syndrome 10 ⚠
p.Ser354Phe No assertion criteria congenital myasthenic syndrome 10 ⚠

Pathogenic/Likely pathogenic 19

c.54+25_55-38del Multiple submitters congenital myasthenic syndrome 10
p.Asp417fs Multiple submitters fetal akinesia deformation sequence 1
p.Cys442fs Multiple submitters congenital myasthenic syndrome 10
p.Gln151Ter Multiple submitters congenital myasthenic syndrome
p.Gln423Ter Multiple submitters congenital myasthenic syndrome 10
p.Gln460fs Multiple submitters fetal akinesia deformation sequence 3
p.Glu382fs Multiple submitters congenital myasthenic syndrome 10
p.Gly171= Multiple submitters fetal akinesia deformation sequence 3
p.Gly172Arg Multiple submitters fetal akinesia deformation sequence 3
p.Gly496fs Multiple submitters congenital myasthenic syndrome 10
p.His481fs Multiple submitters congenital myasthenic syndrome 10
p.Ile199fs Multiple submitters congenital myasthenic syndrome 10
p.Leu447fs Multiple submitters fetal akinesia deformation sequence 3
p.Leu466fs Multiple submitters congenital myasthenic syndrome 10
p.Pro146Leu Multiple submitters fetal akinesia deformation sequence 3 ⚠
p.Pro415fs Multiple submitters fetal akinesia deformation sequence 1
p.Pro504_Ter505delinsArg Multiple submitters Autosomal recessive DOK7-related disorders
p.Ser338fs Multiple submitters fetal akinesia deformation sequence 3
p.Ser422fs Multiple submitters fetal akinesia deformation sequence 3

Likely pathogenic 53

c.332-1G>A Multiple submitters congenital myasthenic syndrome 10
c.332-1G>C Multiple submitters fetal akinesia deformation sequence 3
c.332-1G>T Multiple submitters fetal akinesia deformation sequence 1
p.Gln296Ter Multiple submitters congenital myasthenic syndrome 10
p.Gly180Ala Multiple submitters congenital myasthenic syndrome
p.Leu138= Multiple submitters fetal akinesia deformation sequence 3
p.Val139Leu Multiple submitters fetal akinesia deformation sequence 3 ⚠
c.100+1G>A Single submitter fetal akinesia deformation sequence 1
c.332-2A>G Single submitter congenital myasthenic syndrome 10
c.55-25_55-1del Single submitter fetal akinesia deformation sequence 3
c.652+1dup Single submitter congenital myasthenic syndrome 10
c.652+1G>T Single submitter congenital myasthenic syndrome 10
c.653-1G>C Single submitter fetal akinesia deformation sequence 3
c.653-3C>G Single submitter fetal akinesia deformation sequence 3
c.765_772+11del Single submitter fetal akinesia deformation sequence 3
c.773-1G>A Single submitter fetal akinesia deformation sequence 1
c.773-1G>C Single submitter congenital myasthenic syndrome 10
c.773-2A>C Single submitter fetal akinesia deformation sequence 1
c.773-2A>T Single submitter fetal akinesia deformation sequence 1
p.Ala147fs Single submitter congenital myasthenic syndrome 10
p.Ala302fs Single submitter fetal akinesia deformation sequence 3
p.Ala487fs Single submitter fetal akinesia deformation sequence 3
p.Asn501fs Single submitter fetal akinesia deformation sequence 3
p.Cys388Ter Single submitter fetal akinesia deformation sequence 3
p.Gln10fs Single submitter fetal akinesia deformation sequence 3
p.Gln326Ter Single submitter fetal akinesia deformation sequence 3
p.Glu228Ter Single submitter fetal akinesia deformation sequence 3
p.Glu229Ter Single submitter fetal akinesia deformation sequence 3
p.Glu457fs Single submitter congenital myasthenic syndrome
p.Glu473Ter Single submitter fetal akinesia deformation sequence 3
p.Gly50fs Single submitter fetal akinesia deformation sequence 3
p.His132fs Single submitter fetal akinesia deformation sequence 3
p.His132Gln Single submitter congenital myasthenic syndrome 10
p.His272fs Single submitter fetal akinesia deformation sequence 3
p.Leu184fs Single submitter fetal akinesia deformation sequence 3
p.Leu389fs Single submitter congenital myasthenic syndrome 10
p.Met311fs Single submitter congenital myasthenic syndrome 10
p.Pro146Ser Single submitter congenital myasthenic syndrome 10
p.Pro222fs Single submitter fetal akinesia deformation sequence 3
p.Pro493fs Single submitter fetal akinesia deformation sequence 3
p.Ser249Ter Single submitter fetal akinesia deformation sequence 3
p.Ser291Ter Single submitter fetal akinesia deformation sequence 3
p.Ser293fs Single submitter congenital myasthenic syndrome 10
p.Ser295Ter Single submitter fetal akinesia deformation sequence 3
p.Ser315Ter Single submitter fetal akinesia deformation sequence 3
p.Ser444fs Single submitter DOK7-related disorder
p.Trp23Ter Single submitter fetal akinesia deformation sequence 3
p.Trp284Ter Single submitter fetal akinesia deformation sequence 3
p.Trp475Ter Single submitter fetal akinesia deformation sequence 3
p.Tyr395Ter Single submitter fetal akinesia deformation sequence 3
p.Tyr405Ter Single submitter fetal akinesia deformation sequence 1
p.Tyr536Ter Single submitter congenital myasthenic syndrome 10
p.Trp152Ter No assertion criteria fetal akinesia deformation sequence 3

Conflicting classifications of pathogenicity 59

c.331+9C>T Single submitter fetal akinesia deformation sequence 1
c.533-2A>G Single submitter congenital myasthenic syndrome 10
c.652+5G>A Single submitter congenital myasthenic syndrome 10
c.773-2_773-1del Single submitter fetal akinesia deformation sequence 3
p.Ala251Glu Single submitter Inborn genetic diseases ⚠
p.Ala302Pro Single submitter Inborn genetic diseases ⚠
p.Ala307Pro Single submitter Inborn genetic diseases ⚠
p.Ala378Val Single submitter Inborn genetic diseases ⚠
p.Ala440Thr Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala482= Single submitter congenital myasthenic syndrome 10
p.Ala99Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg105Cys Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg158Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg261Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg280Gln Single submitter Inborn genetic diseases ⚠
p.Arg402Gln Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg432Lys Single submitter Inborn genetic diseases ⚠
p.Arg451Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg54His Single submitter Inborn genetic diseases ⚠
p.Asn501Lys Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu188= Single submitter congenital myasthenic syndrome 10
p.Gly109Ser Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly127Ser Single submitter fetal akinesia deformation sequence 3 ⚠
p.Gly161Arg Single submitter fetal akinesia deformation sequence 3 ⚠
p.Gly166Arg Single submitter fetal akinesia deformation sequence 3 ⚠
p.Gly223Glu Single submitter Inborn genetic diseases ⚠
p.Gly343= Single submitter fetal akinesia deformation sequence 1
p.Gly391Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly427Ser Single submitter Inborn genetic diseases ⚠
p.Gly468_Pro469dup Single submitter fetal akinesia deformation sequence 1
p.Gly68Ser Single submitter Inborn genetic diseases ⚠
p.His272Gln Single submitter Inborn genetic diseases ⚠
p.Leu65= Single submitter congenital myasthenic syndrome 10
p.Lys28Gln Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro205_Pro209delinsAspGlySerThr Single submitter fetal akinesia deformation sequence 1
p.Pro214Leu Single submitter Inborn genetic diseases ⚠
p.Pro222Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro319His Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro390Ser Single submitter Inborn genetic diseases ⚠
p.Pro420Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro421Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro426= Single submitter congenital myasthenic syndrome 10
p.Pro443Ser Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro469His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro486fs Single submitter fetal akinesia deformation sequence 3
p.Pro503Thr Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro504fs Single submitter congenital myasthenic syndrome 10
p.Ser271Thr Single submitter Inborn genetic diseases ⚠
p.Ser291= Single submitter fetal akinesia deformation sequence 1
p.Ser336Leu Single submitter Inborn genetic diseases ⚠
p.Ser429Gly Single submitter Inborn genetic diseases ⚠
p.Ser55Gly Single submitter Inborn genetic diseases ⚠
p.Ter505Arg Single submitter congenital myasthenic syndrome 10
p.Thr226Ala Single submitter Inborn genetic diseases ⚠
p.Thr438Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Thr449Met Single submitter fetal akinesia deformation sequence 1 ⚠
p.Thr77Met Single submitter fetal akinesia deformation sequence 1 ⚠
p.Val32Met Single submitter fetal akinesia deformation sequence 1 ⚠
p.Val494Ile Single submitter Inborn genetic diseases ⚠

Benign 93

c.100+161C>T Multiple submitters
c.100+66A>G Multiple submitters
c.101-11G>A Multiple submitters fetal akinesia deformation sequence 1
c.101-26G>A Multiple submitters
c.101-26G>C Multiple submitters
c.1498-99T>C Multiple submitters
c.1540+10T>C Multiple submitters
c.1540+35G>A Multiple submitters
c.1541-105T>C Multiple submitters
c.1541-129T>C Multiple submitters
c.1541-143C>A Multiple submitters
c.1541-176G>C Multiple submitters
c.1541-19A>G Multiple submitters
c.1541-54A>G Multiple submitters
c.1693+33A>G Multiple submitters
c.1693+82C>T Multiple submitters
c.1694-116G>C Multiple submitters
c.1694-33C>T Multiple submitters
c.331+27G>A Multiple submitters
c.331+43G>T Multiple submitters
c.332-18T>C Multiple submitters fetal akinesia deformation sequence 3
c.332-56G>A Multiple submitters
c.332-92C>T Multiple submitters
c.532+122C>A Multiple submitters
c.532+54T>C Multiple submitters
c.533-115A>G Multiple submitters
c.533-167A>G Multiple submitters
c.533-29A>G Multiple submitters fetal akinesia deformation sequence 3
c.533-31A>G Multiple submitters
c.533-70T>C Multiple submitters
c.54+32_54+33del Multiple submitters fetal akinesia deformation sequence 1
c.54+33dup Multiple submitters fetal akinesia deformation sequence 1
c.653-19A>C Multiple submitters fetal akinesia deformation sequence 1
c.653-20G>T Multiple submitters congenital myasthenic syndrome 10
c.772+37G>A Multiple submitters
c.773-32del Multiple submitters
c.773-56G>A Multiple submitters
c.773-67G>A Multiple submitters
c.*105T>C Multiple submitters
c.*218C>T Multiple submitters
c.*246T>C Multiple submitters
c.*249T>C Multiple submitters
c.*265G>A Multiple submitters
c.*297A>G Multiple submitters
c.*43C>T Multiple submitters
c.*55C>G Multiple submitters
p.Ala251= Multiple submitters congenital myasthenic syndrome 10
p.Ala378= Multiple submitters fetal akinesia deformation sequence 1
p.Arg261Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg323Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg451Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asp197Asn Multiple submitters fetal akinesia deformation sequence 1
p.Gly461Asp Multiple submitters fetal akinesia deformation sequence 1
p.Leu74= Multiple submitters fetal akinesia deformation sequence 3
p.Pro381= Multiple submitters fetal akinesia deformation sequence 1
p.Ser371= Multiple submitters fetal akinesia deformation sequence 1
p.Ser439= Multiple submitters fetal akinesia deformation sequence 1
p.Ser490Leu Multiple submitters fetal akinesia deformation sequence 3
p.Tyr395= Multiple submitters fetal akinesia deformation sequence 1
c.100+288G>C Single submitter
c.101-316del Single submitter
c.1540+307G>A Single submitter
c.1541-188del Single submitter
c.1541-193G>C Single submitter
c.332-113T>C Single submitter
c.332-116_332-65del Single submitter
c.332-116G>A Single submitter
c.332-118C>T Single submitter
c.332-121G>A Single submitter
c.332-169C>T Single submitter
c.332-173G>A Single submitter
c.332-189A>C Single submitter
c.332-190G>A Single submitter
c.332-191T>C Single submitter
c.332-199G>A Single submitter
c.332-221C>T Single submitter
c.532+175A>G Single submitter
c.54+31_54+33dup Single submitter congenital myasthenic syndrome 10
c.55-12del Single submitter congenital myasthenic syndrome 10
c.652+253G>A Single submitter
c.652+259C>G Single submitter
c.653-265G>A Single submitter
c.772+13dup Single submitter fetal akinesia deformation sequence 1
c.772+198T>C Single submitter
c.772+327_772+328insCTTCACCCCTTCATTCCTTT Single submitter
c.773-131G>A Single submitter
c.773-136G>C Single submitter
c.773-142C>T Single submitter
c.773-168T>G Single submitter
c.773-235C>A Single submitter
p.Ala303= Single submitter congenital myasthenic syndrome 10
p.Ala430= Single submitter fetal akinesia deformation sequence 1
p.Gly255= Single submitter fetal akinesia deformation sequence 1

Benign/Likely benign 25

c.100+36del Multiple submitters
c.332-49C>T Multiple submitters
c.332-4G>A Multiple submitters fetal akinesia deformation sequence 1
c.532+18G>A Multiple submitters fetal akinesia deformation sequence 1
c.54+25_54+26insC Multiple submitters fetal akinesia deformation sequence 1
c.54+29G>T Multiple submitters fetal akinesia deformation sequence 1
c.54+31_54+33del Multiple submitters fetal akinesia deformation sequence 1
c.54+32_54+33dup Multiple submitters fetal akinesia deformation sequence 1
c.54+33del Multiple submitters fetal akinesia deformation sequence 1
c.652+50G>A Multiple submitters
c.-30G>T Multiple submitters
c.-6C>G Multiple submitters
p.Ala277= Multiple submitters congenital myasthenic syndrome 10
p.Ala307= Multiple submitters congenital myasthenic syndrome 10
p.Ala307Thr Multiple submitters fetal akinesia deformation sequence 1
p.Arg261His Multiple submitters fetal akinesia deformation sequence 3
p.Arg364Gln Multiple submitters fetal akinesia deformation sequence 1
p.Arg402Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Cys63= Multiple submitters fetal akinesia deformation sequence 1
p.Gln296Arg Multiple submitters fetal akinesia deformation sequence 1
p.Glu60Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Phe182= Multiple submitters fetal akinesia deformation sequence 1
p.Pro415Ser Multiple submitters fetal akinesia deformation sequence 1
p.Pro540= Multiple submitters
p.Ser45Leu Multiple submitters congenital myasthenic syndrome 10 ⚠

Likely benign 492

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

c.1540+105T>G Multiple submitters
c.332-24C>A Multiple submitters
c.332-38G>A Multiple submitters
c.332-39T>C Multiple submitters
c.332-43_332-18del Multiple submitters congenital myasthenic syndrome 10
c.332-50T>C Multiple submitters
c.332-56G>T Multiple submitters
c.332-66C>T Multiple submitters
c.332-69A>G Multiple submitters
c.532+61T>C Multiple submitters
c.532+9G>A Multiple submitters congenital myasthenic syndrome 10
c.533-155G>A Multiple submitters
c.533-231C>G Multiple submitters
c.54+26G>T Multiple submitters fetal akinesia deformation sequence 1
c.54+27G>A Multiple submitters fetal akinesia deformation sequence 1
c.54+29G>A Multiple submitters congenital myasthenic syndrome 10
c.54+29G>C Multiple submitters fetal akinesia deformation sequence 1
c.55-13C>G Multiple submitters fetal akinesia deformation sequence 1
c.652+65G>A Multiple submitters
c.653-4A>G Multiple submitters congenital myasthenic syndrome 10
c.772+156C>T Multiple submitters
c.773-51G>A Multiple submitters
c.*10A>C Multiple submitters
c.*147G>A Multiple submitters
c.*67C>T Multiple submitters
p.Ala232= Multiple submitters fetal akinesia deformation sequence 1
p.Ala440= Multiple submitters fetal akinesia deformation sequence 1
p.Asp274= Multiple submitters fetal akinesia deformation sequence 1
p.Gln233= Multiple submitters congenital myasthenic syndrome 10
p.Gln240= Multiple submitters Inborn genetic diseases
p.Glu382Lys Multiple submitters fetal akinesia deformation sequence 1
p.Gly189= Multiple submitters Inborn genetic diseases
p.Gly441= Multiple submitters congenital myasthenic syndrome 10
p.His481= Multiple submitters congenital myasthenic syndrome 10
p.His94= Multiple submitters congenital myasthenic syndrome 10
p.Ile192= Multiple submitters congenital myasthenic syndrome 10
p.Lys207= Multiple submitters Inborn genetic diseases
p.Phe167= Multiple submitters fetal akinesia deformation sequence 1
p.Pro205= Multiple submitters fetal akinesia deformation sequence 1
p.Pro221= Multiple submitters fetal akinesia deformation sequence 1
p.Pro254= Multiple submitters Inborn genetic diseases
p.Pro324= Multiple submitters congenital myasthenic syndrome 10
p.Pro390= Multiple submitters fetal akinesia deformation sequence 1
p.Pro467= Multiple submitters fetal akinesia deformation sequence 1
p.Ser186= Multiple submitters Inborn genetic diseases
p.Ser225= Multiple submitters Inborn genetic diseases
p.Ser256= Multiple submitters Inborn genetic diseases
p.Ser533= Multiple submitters
p.Thr282= Multiple submitters fetal akinesia deformation sequence 1
p.Tyr160= Multiple submitters congenital myasthenic syndrome 10
p.Val393= Multiple submitters fetal akinesia deformation sequence 1
p.Val397= Multiple submitters congenital myasthenic syndrome 10
c.100+11C>G Single submitter congenital myasthenic syndrome 10
c.100+11C>T Single submitter congenital myasthenic syndrome 10
c.100+12G>A Single submitter fetal akinesia deformation sequence 1
c.100+14G>C Single submitter fetal akinesia deformation sequence 1
c.100+15C>A Single submitter congenital myasthenic syndrome 10
c.100+15C>T Single submitter congenital myasthenic syndrome 10
c.100+174C>A Single submitter
c.100+17G>A Single submitter congenital myasthenic syndrome 10
c.100+18G>A Single submitter congenital myasthenic syndrome 10
c.100+21_100+36del Single submitter fetal akinesia deformation sequence 1
c.101-12C>T Single submitter fetal akinesia deformation sequence 1
c.101-13A>G Single submitter congenital myasthenic syndrome 10
c.101-15C>T Single submitter fetal akinesia deformation sequence 1
c.101-16G>A Single submitter congenital myasthenic syndrome 10
c.101-17G>A Single submitter congenital myasthenic syndrome 10
c.101-17G>T Single submitter fetal akinesia deformation sequence 1
c.101-18C>T Single submitter fetal akinesia deformation sequence 1
c.101-20G>A Single submitter fetal akinesia deformation sequence 1
c.101-349G>C Single submitter
c.101-8C>G Single submitter fetal akinesia deformation sequence 1
c.1541-196del Single submitter
c.1541-5dup Single submitter
c.331+10G>A Single submitter fetal akinesia deformation sequence 1
c.331+10G>T Single submitter fetal akinesia deformation sequence 1
c.331+11G>C Single submitter fetal akinesia deformation sequence 1
c.331+11GGGGCC[3] Single submitter congenital myasthenic syndrome 10
c.331+14G>T Single submitter congenital myasthenic syndrome 10
c.331+15_331+16del Single submitter fetal akinesia deformation sequence 1
c.331+15C>G Single submitter fetal akinesia deformation sequence 1
c.331+16C>T Single submitter congenital myasthenic syndrome 10
c.331+17G>A Single submitter fetal akinesia deformation sequence 1
c.331+18G>A Single submitter congenital myasthenic syndrome 10
c.331+20_331+25del Single submitter fetal akinesia deformation sequence 1
c.331+22C>T Single submitter
c.331+7G>A Single submitter congenital myasthenic syndrome 10
c.332-107_332-4del Single submitter congenital myasthenic syndrome 10
c.332-112G>A Single submitter
c.332-121_332-18del104ins234 Single submitter
c.332-12G>A Single submitter congenital myasthenic syndrome 10
c.332-12G>C Single submitter fetal akinesia deformation sequence 1
c.332-13C>T Single submitter fetal akinesia deformation sequence 1
c.332-14C>T Single submitter congenital myasthenic syndrome 10
c.332-15C>T Single submitter fetal akinesia deformation sequence 1
c.332-17G>A Single submitter fetal akinesia deformation sequence 1
c.332-4G>C Single submitter fetal akinesia deformation sequence 1
c.332-5C>T Single submitter fetal akinesia deformation sequence 1
c.332-69_332-18del Single submitter fetal akinesia deformation sequence 1
c.332-69_332-18del52ins182 Single submitter
c.332-6C>G Single submitter congenital myasthenic syndrome 10
c.332-70_332-69insGCCCCGCCCACCCTCGATGCCCTCTCGCCCCACCCGCCCATGATGCCCTCTC Single submitter
c.332-7C>A Single submitter fetal akinesia deformation sequence 1
c.332-9_332-8insTGCCCC Single submitter fetal akinesia deformation sequence 1
c.332-95_332-18del Single submitter congenital myasthenic syndrome 10
c.332-9T>C Single submitter congenital myasthenic syndrome 10
c.532+13G>A Single submitter fetal akinesia deformation sequence 1
c.532+15G>A Single submitter fetal akinesia deformation sequence 1
c.532+20G>A Single submitter congenital myasthenic syndrome 10
c.532+8C>T Single submitter fetal akinesia deformation sequence 1
c.533-4G>A Single submitter fetal akinesia deformation sequence 1
c.533-6C>T Single submitter fetal akinesia deformation sequence 1
c.54+10C>T Single submitter fetal akinesia deformation sequence 1
c.54+11G>A Single submitter fetal akinesia deformation sequence 1
c.54+13C>A Single submitter fetal akinesia deformation sequence 1
c.54+13C>T Single submitter congenital myasthenic syndrome 10
c.54+16G>A Single submitter fetal akinesia deformation sequence 1
c.54+18G>C Single submitter congenital myasthenic syndrome 10
c.54+19C>T Single submitter congenital myasthenic syndrome 10
c.54+20del Single submitter fetal akinesia deformation sequence 1
c.54+20G>A Single submitter congenital myasthenic syndrome 10
c.54+21_54+22del Single submitter congenital myasthenic syndrome 10
c.54+21C>G Single submitter congenital myasthenic syndrome 10
c.54+21C>T Single submitter fetal akinesia deformation sequence 1
c.54+21del Single submitter fetal akinesia deformation sequence 1
c.54+22_54+23insA Single submitter fetal akinesia deformation sequence 1
c.54+22_54+23insC Single submitter fetal akinesia deformation sequence 1
c.54+22_54+23insT Single submitter congenital myasthenic syndrome 10
c.54+22G>A Single submitter fetal akinesia deformation sequence 1
c.54+22G>T Single submitter congenital myasthenic syndrome 10
c.54+23_54+24insA Single submitter congenital myasthenic syndrome 10
c.54+23_54+24insCG Single submitter congenital myasthenic syndrome 10
c.54+23_54+24insT Single submitter fetal akinesia deformation sequence 1
c.54+23G>C Single submitter congenital myasthenic syndrome 10
c.54+23G>T Single submitter fetal akinesia deformation sequence 1
c.54+24_54+25insA Single submitter fetal akinesia deformation sequence 1
c.54+24_54+25insC Single submitter fetal akinesia deformation sequence 1
c.54+24_54+25insT Single submitter fetal akinesia deformation sequence 1
c.54+24G>A Single submitter fetal akinesia deformation sequence 1
c.54+24G>C Single submitter fetal akinesia deformation sequence 1
c.54+25_54+26insA Single submitter fetal akinesia deformation sequence 1
c.54+25_54+26insAGG Single submitter congenital myasthenic syndrome 10
c.54+25_54+26insCG Single submitter congenital myasthenic syndrome 10
c.54+25_54+26insT Single submitter fetal akinesia deformation sequence 1
c.54+25G>A Single submitter fetal akinesia deformation sequence 1
c.54+25G>C Single submitter congenital myasthenic syndrome 10
c.54+25G>T Single submitter congenital myasthenic syndrome 10
c.54+26_54+27insA Single submitter congenital myasthenic syndrome 10
c.54+26_54+27insAGGG Single submitter congenital myasthenic syndrome 10
c.54+26_54+27insAGGGG Single submitter fetal akinesia deformation sequence 1
c.54+26_54+27insC Single submitter fetal akinesia deformation sequence 1
c.54+26_54+27insT Single submitter fetal akinesia deformation sequence 1
c.54+26G>A Single submitter fetal akinesia deformation sequence 1
c.54+26G>C Single submitter fetal akinesia deformation sequence 1
c.54+27_54+28insA Single submitter fetal akinesia deformation sequence 1
c.54+27_54+28insC Single submitter congenital myasthenic syndrome 10
c.54+27_54+28insCG Single submitter fetal akinesia deformation sequence 1
c.54+27_54+28insT Single submitter fetal akinesia deformation sequence 1
c.54+27G>C Single submitter fetal akinesia deformation sequence 1
c.54+27G>T Single submitter fetal akinesia deformation sequence 1
c.54+28_54+29insA Single submitter congenital myasthenic syndrome 10
c.54+28_54+29insC Single submitter fetal akinesia deformation sequence 1
c.54+28_54+29insCG Single submitter congenital myasthenic syndrome 10
c.54+28_54+29insT Single submitter congenital myasthenic syndrome 10
c.54+28G>A Single submitter fetal akinesia deformation sequence 1
c.54+28G>C Single submitter fetal akinesia deformation sequence 1
c.54+28G>T Single submitter fetal akinesia deformation sequence 1
c.54+29_54+30insA Single submitter fetal akinesia deformation sequence 1
c.54+29_54+30insC Single submitter fetal akinesia deformation sequence 1
c.54+29_54+30insT Single submitter fetal akinesia deformation sequence 1
c.54+30_54+31insA Single submitter congenital myasthenic syndrome 10
c.54+30G>A Single submitter fetal akinesia deformation sequence 1
c.54+30G>T Single submitter fetal akinesia deformation sequence 1
c.54+31_54+32insC Single submitter congenital myasthenic syndrome 10
c.54+31_54+32insCGCG Single submitter fetal akinesia deformation sequence 1
c.54+31_54+32insT Single submitter fetal akinesia deformation sequence 1
c.54+31G>A Single submitter fetal akinesia deformation sequence 1
c.54+31G>C Single submitter congenital myasthenic syndrome 10
c.54+31G>T Single submitter fetal akinesia deformation sequence 1
c.54+31GGGCGC[3] Single submitter congenital myasthenic syndrome 10
c.54+32_54+33insC Single submitter congenital myasthenic syndrome 10
c.54+32_54+33insCGCGG Single submitter fetal akinesia deformation sequence 1
c.54+32_54+33insTG Single submitter fetal akinesia deformation sequence 1
c.54+32G>C Single submitter fetal akinesia deformation sequence 1
c.54+32G>T Single submitter congenital myasthenic syndrome 10
c.54+33_54+34insGCGCGGG Single submitter fetal akinesia deformation sequence 1
c.54+33_54+34insGGCGCGGG Single submitter fetal akinesia deformation sequence 1
c.54+33G>A Single submitter fetal akinesia deformation sequence 1
c.54+33G>C Single submitter fetal akinesia deformation sequence 1
c.54+34_54+37del Single submitter fetal akinesia deformation sequence 1
c.54+34_54+38del Single submitter congenital myasthenic syndrome 10
c.54+34C>G Single submitter fetal akinesia deformation sequence 1
c.54+34C>T Single submitter congenital myasthenic syndrome 10
c.54+34del Single submitter fetal akinesia deformation sequence 1
c.54+34dup Single submitter fetal akinesia deformation sequence 1
c.54+36_54+37del Single submitter fetal akinesia deformation sequence 1
c.54+36C>G Single submitter fetal akinesia deformation sequence 1
c.54+38G>C Single submitter congenital myasthenic syndrome 10
c.54+7G>A Single submitter fetal akinesia deformation sequence 1
c.54+8_54+17dup Single submitter fetal akinesia deformation sequence 1
c.54+9G>A Single submitter congenital myasthenic syndrome 10
c.55-10G>A Single submitter congenital myasthenic syndrome 10
c.55-12C>G Single submitter congenital myasthenic syndrome 10
c.55-13C>T Single submitter fetal akinesia deformation sequence 1
c.55-15C>G Single submitter congenital myasthenic syndrome 10
c.55-16C>A Single submitter congenital myasthenic syndrome 10
c.55-16C>T Single submitter fetal akinesia deformation sequence 1
c.55-17C>T Single submitter fetal akinesia deformation sequence 1
c.55-18_55-17insA Single submitter congenital myasthenic syndrome 10
c.55-19C>T Single submitter congenital myasthenic syndrome 10
c.55-35_55-30del Single submitter congenital myasthenic syndrome 10
c.55-38G>A Single submitter congenital myasthenic syndrome 10
c.55-4G>A Single submitter fetal akinesia deformation sequence 1
c.55-7C>A Single submitter congenital myasthenic syndrome 10
c.55-8C>T Single submitter congenital myasthenic syndrome 10
c.652+14C>G Single submitter fetal akinesia deformation sequence 1
c.652+16T>G Single submitter fetal akinesia deformation sequence 1
c.652+20C>A Single submitter congenital myasthenic syndrome 10
c.652+20C>G Single submitter fetal akinesia deformation sequence 1
c.652+20C>T Single submitter congenital myasthenic syndrome 10
c.652+8T>C Single submitter congenital myasthenic syndrome 10
c.652+9G>A Single submitter congenital myasthenic syndrome 10
c.653-11_653-8del Single submitter fetal akinesia deformation sequence 1
c.653-13C>T Single submitter congenital myasthenic syndrome 10
c.653-18G>A Single submitter congenital myasthenic syndrome 10
c.653-18G>C Single submitter congenital myasthenic syndrome 10
c.653-19A>G Single submitter
c.653-20del Single submitter fetal akinesia deformation sequence 1
c.653-20G>A Single submitter fetal akinesia deformation sequence 1
c.653-20G>C Single submitter fetal akinesia deformation sequence 1
c.653-271G>A Single submitter
c.653-5C>T Single submitter fetal akinesia deformation sequence 1
c.653-6C>T Single submitter fetal akinesia deformation sequence 1
c.653-9C>G Single submitter congenital myasthenic syndrome 10
c.772+14C>G Single submitter fetal akinesia deformation sequence 1
c.772+14C>T Single submitter congenital myasthenic syndrome 10
c.772+14del Single submitter fetal akinesia deformation sequence 1
c.772+20T>C Single submitter congenital myasthenic syndrome 10
c.772+256T>G Single submitter
c.772+270C>T Single submitter
c.772+292_772+293del Single submitter
c.772+8C>T Single submitter fetal akinesia deformation sequence 1
c.773-10T>G Single submitter congenital myasthenic syndrome 10
c.773-11C>T Single submitter congenital myasthenic syndrome 10
c.773-12G>A Single submitter fetal akinesia deformation sequence 1
c.773-13T>C Single submitter fetal akinesia deformation sequence 1
c.773-15C>G Single submitter congenital myasthenic syndrome 10
c.773-15C>T Single submitter fetal akinesia deformation sequence 1
c.773-184A>G Single submitter
c.773-18C>T Single submitter congenital myasthenic syndrome 10
c.773-19G>A Single submitter fetal akinesia deformation sequence 1
c.773-19G>T Single submitter fetal akinesia deformation sequence 1
c.773-20G>C Single submitter fetal akinesia deformation sequence 1
c.773-234G>A Single submitter
c.773-300C>G Single submitter
c.773-320G>A Single submitter
c.773-326G>T Single submitter
c.773-7_773-4del Single submitter fetal akinesia deformation sequence 1
c.773-7G>A Single submitter congenital myasthenic syndrome 10
c.773-9C>G Single submitter congenital myasthenic syndrome 10
c.773-9C>T Single submitter congenital myasthenic syndrome 10
c.*113G>A Single submitter
c.*155G>A Single submitter
c.*16C>T Single submitter
p.Ala107= Single submitter fetal akinesia deformation sequence 1
p.Ala162= Single submitter congenital myasthenic syndrome 10
p.Ala251Ser Single submitter Inborn genetic diseases
p.Ala283= Single submitter congenital myasthenic syndrome 10
p.Ala302= Single submitter fetal akinesia deformation sequence 1
p.Ala306= Single submitter fetal akinesia deformation sequence 1
p.Ala341= Single submitter congenital myasthenic syndrome 10
p.Ala356= Single submitter fetal akinesia deformation sequence 1
p.Ala365= Single submitter fetal akinesia deformation sequence 1
p.Ala377= Single submitter congenital myasthenic syndrome 10
p.Ala380= Single submitter fetal akinesia deformation sequence 1
p.Ala4= Single submitter congenital myasthenic syndrome 10
p.Ala414= Single submitter fetal akinesia deformation sequence 1
p.Ala458= Single submitter congenital myasthenic syndrome 10
p.Ala470= Single submitter congenital myasthenic syndrome 10
p.Ala491= Single submitter congenital myasthenic syndrome 10
p.Ala79= Single submitter congenital myasthenic syndrome 10
p.Ala86Val Single submitter congenital myasthenic syndrome 10
p.Ala96= Single submitter fetal akinesia deformation sequence 1
p.Ala99= Single submitter fetal akinesia deformation sequence 1
p.Arg103= Single submitter congenital myasthenic syndrome 10
p.Arg113= Single submitter congenital myasthenic syndrome 10
p.Arg14= Single submitter fetal akinesia deformation sequence 1
p.Arg201= Single submitter congenital myasthenic syndrome 10
p.Arg213= Single submitter congenital myasthenic syndrome 10
p.Arg22= Single submitter fetal akinesia deformation sequence 1
p.Arg253= Single submitter congenital myasthenic syndrome 10
p.Arg261= Single submitter congenital myasthenic syndrome 10
p.Arg27= Single submitter fetal akinesia deformation sequence 1
p.Arg280= Single submitter fetal akinesia deformation sequence 1
p.Arg316= Single submitter congenital myasthenic syndrome 10
p.Arg325= Single submitter congenital myasthenic syndrome 10
p.Arg332= Single submitter congenital myasthenic syndrome 10
p.Arg364= Single submitter fetal akinesia deformation sequence 1
p.Arg402= Single submitter congenital myasthenic syndrome 10
p.Arg409= Single submitter congenital myasthenic syndrome 10

Uncertain significance 390

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

c.54+8C>T Multiple submitters congenital myasthenic syndrome 10
p.Ala251Val Multiple submitters Inborn genetic diseases ⚠
p.Ala277Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala33Ser Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala356Glu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala356Val Multiple submitters Inborn genetic diseases ⚠
p.Ala380Asp Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ala380Ser Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ala380Val Multiple submitters Inborn genetic diseases ⚠
p.Ala403Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala430Val Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala458Asp Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ala482Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala482Val Multiple submitters Inborn genetic diseases ⚠
p.Ala501Val Multiple submitters congenital myasthenic syndrome 10
p.Arg103Gln Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg105His Multiple submitters Inborn genetic diseases ⚠
p.Arg159Cys Multiple submitters ⚠
p.Arg213Gln Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg244Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg280Trp Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Arg323His Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Arg325Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg332Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg364Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg409Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg409His Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Arg432Gly Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Arg452Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg452Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg52Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg54Leu Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Asp274Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp406Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys492Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gln305Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln423Arg Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gln460Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu110Lys Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Glu188Lys Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Glu229Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu229Lys Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Glu286Gly Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Glu368Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu394Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu3Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu463Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu463Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu473Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu532Lys Multiple submitters congenital myasthenic syndrome 10
p.Glu72Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly109= Multiple submitters fetal akinesia deformation sequence 1
p.Gly208Val Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly308Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly391Glu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly436Arg Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly436Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly441Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly468_Pro469del Multiple submitters fetal akinesia deformation sequence 1
p.Gly468Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly479Ser Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Gly483Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly483Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly496Ala Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly496Val Multiple submitters congenital myasthenic syndrome 10 ⚠
p.His345Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile199Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu138Ile Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Leu154Val Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Leu195Val Multiple submitters Inborn genetic diseases ⚠
p.Leu212Pro Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Leu239Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu447_Arg451del Multiple submitters fetal akinesia deformation sequence 1
p.Leu51Met Multiple submitters Inborn genetic diseases ⚠
p.Lys12Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys17Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys499Arg Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Met311Thr Multiple submitters Inborn genetic diseases ⚠
p.Met456Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro128Leu Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Pro209Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro217Ser Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Pro219Ala Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro221Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro318Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro319Arg Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Pro324Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro381Ser Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Pro390Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro390Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro415Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro420Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro420Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro421His Multiple submitters Inborn genetic diseases ⚠
p.Pro471Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro484Leu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro486Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser193Gly Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser204Tyr Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser225Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser225Leu Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser256Gly Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser266Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser290Leu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ser293Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser334Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser346Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser353Leu Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser410Arg Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Ser490Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Thr294Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr294Met Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Thr407Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr438Met Multiple submitters Inborn genetic diseases ⚠
p.Thr465Ala Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Thr58Met Multiple submitters congenital myasthenic syndrome 10 ⚠
p.Thr77Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp475Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Tyr405Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Tyr71Phe Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val11Ala Multiple submitters Inborn genetic diseases ⚠
p.Val139Ile Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val362Met Multiple submitters fetal akinesia deformation sequence 1 ⚠
c.100+6C>A Single submitter
c.331+23_331+56del Single submitter congenital myasthenic syndrome 10
c.331+4_331+5del Single submitter fetal akinesia deformation sequence 1
c.332-18T>A Single submitter congenital myasthenic syndrome 10
c.532+4A>C Single submitter congenital myasthenic syndrome 10
c.54+25_55-32del Single submitter congenital myasthenic syndrome 10
c.54+3C>T Single submitter congenital myasthenic syndrome 10
c.55-10G>T Single submitter
c.55-12_55-11del Single submitter fetal akinesia deformation sequence 1
c.652+4C>T Single submitter congenital myasthenic syndrome 10
c.652+7G>A Single submitter
c.653-3C>T Single submitter fetal akinesia deformation sequence 1
c.772+2T>G Single submitter congenital myasthenic syndrome 10
c.772+4G>A Single submitter congenital myasthenic syndrome 10
c.773-8_797del Single submitter fetal akinesia deformation sequence 1
c.(?_*2670 Single submitter
p.Ala107Glu Single submitter ⚠
p.Ala107Val Single submitter Inborn genetic diseases ⚠
p.Ala119Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala129Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala147Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala283Thr Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala292Val Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala303Thr Single submitter Inborn genetic diseases ⚠
p.Ala310Thr Single submitter ⚠
p.Ala314Val Single submitter ⚠
p.Ala33Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala33Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala356Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala356Thr Single submitter ⚠
p.Ala365Asp Single submitter Inborn genetic diseases ⚠
p.Ala380Gly Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala380Pro Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala430Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala431Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala440Ser Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala458Val Single submitter ⚠
p.Ala477Gly Single submitter Inborn genetic diseases ⚠
p.Ala482Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala487Pro Single submitter congenital myasthenic syndrome 10 ⚠
p.Ala487Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala487Val Single submitter Inborn genetic diseases ⚠
p.Ala505Val Single submitter
p.Ala96Val Single submitter Inborn genetic diseases ⚠
p.Arg159His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg174Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg201Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg213Leu Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg213Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg213Trp Single submitter Inborn genetic diseases ⚠
p.Arg22Lys Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg253_Gly255del Single submitter fetal akinesia deformation sequence 1
p.Arg253Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg300Thr Single submitter ⚠
p.Arg316Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg316Ser Single submitter ⚠
p.Arg325Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg332His Single submitter ⚠
p.Arg364Leu Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg402Pro Single submitter congenital myasthenic syndrome 10 ⚠
p.Arg416Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg450Ile Single submitter ⚠
p.Arg47Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg47Ser Single submitter ⚠
p.Arg52Trp Single submitter Inborn genetic diseases ⚠
p.Arg54Cys Single submitter Inborn genetic diseases ⚠
p.Arg591Gln Single submitter
p.Asn501His Single submitter ⚠
p.Asp101Gly Single submitter Inborn genetic diseases ⚠
p.Asp15Asn Single submitter congenital myasthenic syndrome 10 ⚠
p.Asp218Asn Single submitter congenital myasthenic syndrome 10 ⚠
p.Asp218Glu Single submitter congenital myasthenic syndrome 10 ⚠
p.Asp259Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asp260Val Single submitter Inborn genetic diseases ⚠
p.Asp337Asn Single submitter congenital myasthenic syndrome 10 ⚠
p.Asp34Val Single submitter Inborn genetic diseases ⚠
p.Asp361Glu Single submitter congenital myasthenic syndrome 10 ⚠
p.Asp417Glu Single submitter ⚠
p.Asp417Tyr Single submitter Inborn genetic diseases ⚠
p.Asp433His Single submitter congenital myasthenic syndrome 10
p.Cys175Trp Single submitter congenital myasthenic syndrome 10 ⚠
p.Cys198Trp Single submitter Inborn genetic diseases ⚠
p.Cys442Tyr Single submitter Inborn genetic diseases ⚠
p.Cys495Gly Single submitter congenital myasthenic syndrome 10 ⚠
p.Cys495Ter Single submitter congenital myasthenic syndrome 10
p.Cys98Ser Single submitter congenital myasthenic syndrome 10 ⚠
p.Gln296Leu Single submitter congenital myasthenic syndrome 10 ⚠
p.Gln296Trp Single submitter fetal akinesia deformation sequence 1
p.Gln328Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gln328Pro Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu228Leu Single submitter
p.Glu228Lys Single submitter Inborn genetic diseases ⚠
p.Glu228Val Single submitter Inborn genetic diseases ⚠
p.Glu229Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu237Lys Single submitter Inborn genetic diseases ⚠
p.Glu269Gln Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu286Gln Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu286Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu297Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu329Asp Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu382_Pro390del Single submitter fetal akinesia deformation sequence 1
p.Glu382Ala Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu394Gln Single submitter Inborn genetic diseases ⚠
p.Glu457Asp Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu46_Gly50delinsAsp Single submitter fetal akinesia deformation sequence 1
p.Glu463Gln Single submitter congenital myasthenic syndrome 10 ⚠
p.Glu95Lys Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly109Asp Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly16Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly16Cys Single submitter Inborn genetic diseases ⚠
p.Gly171Asp Single submitter ⚠
p.Gly189Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly298Glu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly313Ser Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly339Ala Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly339Ser Single submitter Inborn genetic diseases ⚠
p.Gly370Ala Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly391Trp Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly427Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly427Asp Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly436Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly436fs Single submitter fetal akinesia deformation sequence 1
p.Gly441Glu Single submitter ⚠
p.Gly453Ser Single submitter ⚠
p.Gly468Cys Single submitter ⚠
p.Gly478Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly478Cys Single submitter Inborn genetic diseases ⚠
p.Gly479Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly497Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Gly500Glu Single submitter
p.Gly531Ser Single submitter
p.Gly64Arg Single submitter ⚠
p.His132Asn Single submitter fetal akinesia deformation sequence 1 ⚠
p.His272Tyr Single submitter congenital myasthenic syndrome 10 ⚠
p.His345Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.His345Leu Single submitter Inborn genetic diseases ⚠
p.His404Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.His418Tyr Single submitter Inborn genetic diseases ⚠
p.Ile144Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ile340Val Single submitter congenital myasthenic syndrome 10 ⚠
p.Ile48Thr Single submitter congenital myasthenic syndrome 10 ⚠
p.Ile62Asn Single submitter congenital myasthenic syndrome 10 ⚠
p.Ile62Thr Single submitter Inborn genetic diseases ⚠
p.Ile80Phe Single submitter Inborn genetic diseases ⚠
p.Leu154Met Single submitter ⚠
p.Leu157Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu157Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu184Pro Single submitter congenital myasthenic syndrome 10 ⚠
p.Leu195Gln Single submitter ⚠
p.Leu248Val Single submitter Inborn genetic diseases ⚠
p.Leu352Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu385Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu411Phe Single submitter Inborn genetic diseases ⚠
p.Leu454Pro Single submitter Inborn genetic diseases ⚠
p.Leu466Val Single submitter Inborn genetic diseases ⚠
p.Leu498Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu59Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu600Val Single submitter
p.Lys153Thr Single submitter congenital myasthenic syndrome 10 ⚠
p.Lys207Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Lys243Glu Single submitter congenital myasthenic syndrome 10 ⚠
p.Lys499Asn Single submitter congenital myasthenic syndrome 10 ⚠
p.Met1del Single submitter
p.Met311Val Single submitter congenital myasthenic syndrome 10 ⚠
p.Met38Leu Single submitter Inborn genetic diseases ⚠
p.Met456_Ser462delinsIle Single submitter congenital myasthenic syndrome 10
p.Met456Ile Single submitter Inborn genetic diseases ⚠
p.Met88Ile Single submitter congenital myasthenic syndrome 10 ⚠
p.Met97Val Single submitter congenital myasthenic syndrome 10 ⚠
p.Phe196Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Phe488Leu Single submitter ⚠
p.Pro128Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro164Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro205Leu Single submitter ⚠
p.Pro209Leu Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro219Arg Single submitter congenital myasthenic syndrome 10 ⚠
p.Pro221Leu Single submitter Inborn genetic diseases ⚠