CHRNE — 1336 ClinVar variants

Pathogenic 90

• c.1219+2T>G Multiple submitters congenital myasthenic syndrome 4C
• c.1327del Multiple submitters congenital myasthenic syndrome 1A
• c.803-2A>G Multiple submitters congenital myasthenic syndrome 4A
• c.918-1G>A Multiple submitters congenital myasthenic syndrome
• p.Ala337fs Multiple submitters congenital myasthenic syndrome
• p.Arg238Trp Multiple submitters congenital myasthenic syndrome 4A
• p.Arg364fs Multiple submitters congenital myasthenic syndrome 4A
• p.Arg84Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Arg99Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Asn190fs Multiple submitters congenital myasthenic syndrome 4A
• p.Asn452fs Multiple submitters congenital myasthenic syndrome 4C
• p.Asn456del Multiple submitters congenital myasthenic syndrome 4B
• p.Cys423fs Multiple submitters congenital myasthenic syndrome 4A
• p.Gln402Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Glu23Ter Multiple submitters CHRNE-related disorder
• p.Glu419Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Glu44fs Multiple submitters congenital myasthenic syndrome 4B
• p.Gly355fs Multiple submitters congenital myasthenic syndrome 4B
• p.Lys387fs Multiple submitters congenital myasthenic syndrome 4A
• p.Pro141Leu Multiple submitters CHRNE-related disorder
• p.Thr297fs Multiple submitters congenital myasthenic syndrome 4A
• p.Trp205fs Multiple submitters congenital myasthenic syndrome 4A
• p.Tyr28Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Tyr35Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Val150fs Multiple submitters congenital myasthenic syndrome 4A
• p.Val279Phe Multiple submitters congenital myasthenic syndrome 4A
• c.1032+1G>C Single submitter congenital myasthenic syndrome 4C
• c.1032+1G>T Single submitter congenital myasthenic syndrome 4A
• c.1033-1G>A Single submitter congenital myasthenic syndrome 4B
• c.1219+1G>C Single submitter congenital myasthenic syndrome 4A
• c.1326+2T>C Single submitter congenital myasthenic syndrome 4A
• c.46+2del Single submitter congenital myasthenic syndrome 4A
• c.802+1G>A Single submitter congenital myasthenic syndrome 4A
• c.802+2T>A Single submitter congenital myasthenic syndrome 4A
• c.802+2T>C Single submitter congenital myasthenic syndrome 4A
• p.Ala315fs Single submitter congenital myasthenic syndrome 4A
• p.Ala415fs Single submitter congenital myasthenic syndrome 4A
• p.Arg40fs Single submitter congenital myasthenic syndrome 4A
• p.Arg84fs Single submitter congenital myasthenic syndrome 4A
• p.Arg99fs Single submitter congenital myasthenic syndrome 4A
• p.Asn184fs Single submitter congenital myasthenic syndrome 4A
• p.Asp195Asn Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp223fs Single submitter congenital myasthenic syndrome 4A
• p.Asp436fs Single submitter congenital myasthenic syndrome 4A
• p.Gln169Ter Single submitter congenital myasthenic syndrome 4A
• p.Gln267Ter Single submitter
• p.Gln271Ter Single submitter congenital myasthenic syndrome 4A
• p.Glu174Ter Single submitter congenital myasthenic syndrome 4A
• p.Glu175Ter Single submitter congenital myasthenic syndrome 4C
• p.Glu197fs Single submitter congenital myasthenic syndrome 4A
• p.Glu197Ter Single submitter congenital myasthenic syndrome 4A
• p.Glu442fs Single submitter congenital myasthenic syndrome 4A
• p.Gly121Ter Single submitter congenital myasthenic syndrome 4A
• p.Gly203fs Single submitter congenital myasthenic syndrome 4A
• p.His218fs Single submitter congenital myasthenic syndrome 4A
• p.Ile110fs Single submitter congenital myasthenic syndrome 4A
• p.Ile277fs Single submitter congenital myasthenic syndrome 4A
• p.Ile318fs Single submitter congenital myasthenic syndrome 4A
• p.Leu264fs Single submitter congenital myasthenic syndrome 4A
• p.Leu354fs Single submitter congenital myasthenic syndrome 4A
• p.Leu6fs Single submitter congenital myasthenic syndrome 4A
• p.Lys66fs Single submitter congenital myasthenic syndrome
• p.Met338fs Single submitter congenital myasthenic syndrome 4A
• p.Pro358fs Single submitter congenital myasthenic syndrome 4A
• p.Pro359fs Single submitter congenital myasthenic syndrome 4A
• p.Ser135fs Single submitter congenital myasthenic syndrome 4A
• p.Ser329fs Single submitter congenital myasthenic syndrome 4A
• p.Ser433fs Single submitter congenital myasthenic syndrome 4A
• p.Ser445fs Single submitter congenital myasthenic syndrome 4A
• p.Ser88fs Single submitter congenital myasthenic syndrome 4A
• p.Trp106fs Single submitter congenital myasthenic syndrome 4A
• p.Trp106Ter Single submitter congenital myasthenic syndrome 4A
• p.Trp138Ter Single submitter congenital myasthenic syndrome
• p.Trp159Ter Single submitter congenital myasthenic syndrome 4A
• p.Trp405Ter Single submitter congenital myasthenic syndrome 4A
• p.Trp80Ter Single submitter congenital myasthenic syndrome 4A
• p.Tyr131Ter Single submitter congenital myasthenic syndrome 4A
• p.Val105fs Single submitter congenital myasthenic syndrome 4A
• p.Val147fs Single submitter congenital myasthenic syndrome 4A
• p.Val152fs Single submitter congenital myasthenic syndrome 4A
• p.Val252fs Single submitter congenital myasthenic syndrome 4A
• p.Val285Ala Single submitter congenital myasthenic syndrome 4A
• p.Val285fs Single submitter congenital myasthenic syndrome 4A
• p.Val323fs Single submitter
• p.Val424fs Single submitter congenital myasthenic syndrome 4A
• c.344+1G>A No assertion criteria congenital myasthenic syndrome 4C
• p.Arg306Gly No assertion criteria congenital myasthenic syndrome ⚠
• p.His344fs No assertion criteria congenital myasthenic syndrome 4C
• p.Ser298del No assertion criteria congenital myasthenic syndrome 4A
• p.Trp75Arg No assertion criteria congenital myasthenic syndrome 4B

Pathogenic/Likely pathogenic 60

• c.1033-1G>C Multiple submitters congenital myasthenic syndrome 4A
• c.1033-2A>T Multiple submitters congenital myasthenic syndrome
• c.1216_1219+19del Multiple submitters congenital myasthenic syndrome
• c.1220-1G>A Multiple submitters congenital myasthenic syndrome 4A
• c.1220-1G>C Multiple submitters congenital myasthenic syndrome 4A
• c.1220-2A>G Multiple submitters congenital myasthenic syndrome
• c.1319_1326+15del Multiple submitters congenital myasthenic syndrome 4C
• c.1326+1G>A Multiple submitters CHRNE-related disorder
• c.345-2A>G Multiple submitters congenital myasthenic syndrome 4B
• p.Ala149fs Multiple submitters congenital myasthenic syndrome 4B
• p.Ala206fs Multiple submitters congenital myasthenic syndrome 4A
• p.Ala365fs Multiple submitters congenital myasthenic syndrome
• p.Ala431Pro Multiple submitters congenital myasthenic syndrome 4A
• p.Ala461fs Multiple submitters congenital myasthenic syndrome 4B
• p.Ala462fs Multiple submitters congenital myasthenic syndrome 4A
• p.Arg167Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg331Gln Multiple submitters congenital myasthenic syndrome 4B ⚠
• p.Arg331Trp Multiple submitters CHRNE-related disorder ⚠
• p.Arg370fs Multiple submitters congenital myasthenic syndrome 4A
• p.Arg371fs Multiple submitters congenital myasthenic syndrome 4A
• p.Asp229fs Multiple submitters congenital myasthenic syndrome 4A
• p.Cys148Ser Multiple submitters congenital myasthenic syndrome
• p.Cys322Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Cys458fs Multiple submitters congenital myasthenic syndrome 4A
• p.Gln119Ter Multiple submitters congenital myasthenic syndrome
• p.Gln283Ter Multiple submitters congenital myasthenic syndrome 4B
• p.Gln292Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Gln330Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Gln398Ter Multiple submitters congenital myasthenic syndrome
• p.Gln402fs Multiple submitters congenital myasthenic syndrome
• p.Gln411Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Glu177del Multiple submitters congenital myasthenic syndrome
• p.Glu177fs Multiple submitters congenital myasthenic syndrome 4A
• p.Glu419fs Multiple submitters congenital myasthenic syndrome 4A
• p.His336fs Multiple submitters congenital myasthenic syndrome 4A
• p.Ile324fs Multiple submitters Autosomal recessive CHRNE-related disorders
• p.Leu241Phe Multiple submitters congenital myasthenic syndrome ⚠
• p.Leu289fs Multiple submitters congenital myasthenic syndrome 4A
• p.Leu289Phe Multiple submitters congenital myasthenic syndrome 4A
• p.Leu63fs Multiple submitters congenital myasthenic syndrome
• p.Leu70fs Multiple submitters CHRNE-related disorder
• p.Leu98Pro Multiple submitters congenital myasthenic syndrome 4C
• p.Lys388Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Met312del Multiple submitters congenital myasthenic syndrome
• p.Pro265fs Multiple submitters congenital myasthenic syndrome 4B
• p.Pro265Leu Multiple submitters Inborn genetic diseases
• p.Pro302Arg Multiple submitters congenital myasthenic syndrome 4A
• p.Pro351Leu Multiple submitters congenital myasthenic syndrome ⚠
• p.Ser255Leu Multiple submitters congenital myasthenic syndrome
• p.Ser367fs Multiple submitters congenital myasthenic syndrome
• p.Ser373fs Multiple submitters congenital myasthenic syndrome
• p.Ser374Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Ser39fs Multiple submitters congenital myasthenic syndrome
• p.Thr284Pro Multiple submitters congenital myasthenic syndrome 4A
• p.Trp447Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Trp460Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Trp75Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Tyr124Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Val285fs Multiple submitters congenital myasthenic syndrome 4A
• p.Val420fs Multiple submitters congenital myasthenic syndrome

Likely pathogenic 92

• c.1032+1G>A Multiple submitters congenital myasthenic syndrome 4A
• c.1220-6_1227del Multiple submitters congenital myasthenic syndrome 4A
• c.189+1G>A Multiple submitters congenital myasthenic syndrome 4A
• c.235-2A>G Multiple submitters congenital myasthenic syndrome 4A
• c.501-16G>A Multiple submitters congenital myasthenic syndrome 4B
• c.601+1G>T Multiple submitters congenital myasthenic syndrome 4A
• p.Gln437Ter Multiple submitters congenital myasthenic syndrome 4C
• p.Ile309fs Multiple submitters congenital myasthenic syndrome
• p.Phe286del Multiple submitters congenital myasthenic syndrome
• p.Pro108Ser Multiple submitters congenital myasthenic syndrome
• p.Ser163Leu Multiple submitters congenital myasthenic syndrome 4B ⚠
• p.Ser433_Glu438dup Multiple submitters congenital myasthenic syndrome 4B
• p.Trp205Ter Multiple submitters congenital myasthenic syndrome 4A
• p.Val74fs Multiple submitters congenital myasthenic syndrome 4C
• c.1016_1032+2dup Single submitter congenital myasthenic syndrome 4B
• c.1032+2T>A Single submitter congenital myasthenic syndrome 4A
• c.1033-2del Single submitter congenital myasthenic syndrome 4A
• c.1219+1G>A Single submitter congenital myasthenic syndrome 4A
• c.1220-2A>C Single submitter congenital myasthenic syndrome 4A
• c.1326+1G>T Single submitter congenital myasthenic syndrome 4A
• c.1327-1G>A Single submitter congenital myasthenic syndrome 4A
• c.1327-2A>C Single submitter congenital myasthenic syndrome 4A
• c.1327-2A>G Single submitter CHRNE-related disorder
• c.1327-2A>T Single submitter congenital myasthenic syndrome 4A
• c.190-2A>G Single submitter congenital myasthenic syndrome 4A
• c.345-1G>A Single submitter congenital myasthenic syndrome 4A
• c.345-2A>T Single submitter congenital myasthenic syndrome 4A
• c.46+1G>T Single submitter congenital myasthenic syndrome 4A
• c.47-1G>A Single submitter congenital myasthenic syndrome 4A
• c.500+2T>C Single submitter congenital myasthenic syndrome 4A
• c.501-1G>C Single submitter congenital myasthenic syndrome 4A
• c.602-1G>A Single submitter congenital myasthenic syndrome 4A
• c.803_813del Single submitter congenital myasthenic syndrome 4A
• c.803-1G>T Single submitter congenital myasthenic syndrome 4A
• p.Ala291Val Single submitter congenital myasthenic syndrome
• p.Ala362fs Single submitter congenital myasthenic syndrome 4A
• p.Arg237Pro Single submitter congenital myasthenic syndrome 4A
• p.Arg306Thr Single submitter Abnormality of the musculature ⚠
• p.Arg390fs Single submitter congenital myasthenic syndrome
• p.Asn115fs Single submitter congenital myasthenic syndrome 4A
• p.Asn202fs Single submitter congenital myasthenic syndrome 4A
• p.Cys148Arg Single submitter congenital myasthenic syndrome 4A
• p.Cys148Tyr Single submitter congenital myasthenic syndrome 4A
• p.Cys162Tyr Single submitter congenital myasthenic syndrome 4C
• p.Cys210fs Single submitter congenital myasthenic syndrome 4A
• p.Gln169fs Single submitter congenital myasthenic syndrome
• p.Glu132Ter Single submitter congenital myasthenic syndrome
• p.Glu201Lys Single submitter congenital myasthenic syndrome ⚠
• p.Glu24fs Single submitter congenital myasthenic syndrome 4A
• p.Glu382Ter Single submitter congenital myasthenic syndrome 4A
• p.Glu65Ter Single submitter congenital myasthenic syndrome 4C
• p.Glu67fs Single submitter congenital myasthenic syndrome 4C
• p.Gly212_Val213insTer Single submitter
• p.Gly305Asp Single submitter
• p.Gly94fs Single submitter congenital myasthenic syndrome 4A
• p.Ile116fs Single submitter congenital myasthenic syndrome 4A
• p.Ile294fs Single submitter congenital myasthenic syndrome 4A
• p.Leu287fs Single submitter congenital myasthenic syndrome 4A
• p.Leu378fs Single submitter congenital myasthenic syndrome 4A
• p.Leu463Arg Single submitter congenital myasthenic syndrome 4A
• p.Leu9Pro Single submitter congenital myasthenic syndrome 4B ⚠
• p.Lys388fs Single submitter congenital myasthenic syndrome 4A
• p.Met1Ile Single submitter congenital myasthenic syndrome 4B
• p.Met1Thr Single submitter congenital myasthenic syndrome 4A
• p.Phe166Cys Single submitter congenital myasthenic syndrome 4A
• p.Phe310fs Single submitter congenital myasthenic syndrome 4A
• p.Pro333fs Single submitter
• p.Pro357fs Single submitter congenital myasthenic syndrome
• p.Pro369fs Single submitter congenital myasthenic syndrome 4A
• p.Pro486Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ser255Trp Single submitter congenital myasthenic syndrome 4A
• p.Ser298fs Single submitter congenital myasthenic syndrome 4A
• p.Ser356fs Single submitter congenital myasthenic syndrome 4A
• p.Ser367Ter Single submitter congenital myasthenic syndrome
• p.Ser73fs Single submitter congenital myasthenic syndrome 4A
• p.Thr196fs Single submitter
• p.Tyr144Ter Single submitter congenital myasthenic syndrome 4A
• p.Tyr171fs Single submitter congenital myasthenic syndrome 4A
• p.Tyr171Ter Single submitter congenital myasthenic syndrome
• p.Tyr232fs Single submitter congenital myasthenic syndrome 4A
• p.Tyr232Ter Single submitter congenital myasthenic syndrome 4A
• p.Tyr243fs Single submitter congenital myasthenic syndrome 4A
• p.Tyr243Ter Single submitter congenital myasthenic syndrome
• p.Tyr262Ter Single submitter congenital myasthenic syndrome 4A
• p.Tyr478Ter Single submitter congenital myasthenic syndrome 4A
• p.Val230Asp Single submitter congenital myasthenic syndrome 4C
• p.Val279Leu Single submitter congenital myasthenic syndrome
• p.Val285Ile Single submitter congenital myasthenic syndrome 4A ⚠
• p.Val285Leu Single submitter Neurodevelopmental delay
• p.Val394fs Single submitter congenital myasthenic syndrome
• p.Val55Asp Single submitter Abnormality of the musculature
• p.Ile116Val No assertion criteria Tip-toe gait ⚠

Conflicting classifications of pathogenicity 65

• c.1220-8_1227dup Single submitter congenital myasthenic syndrome 4B
• c.235-5C>T Single submitter congenital myasthenic syndrome
• c.46+5G>A Single submitter congenital myasthenic syndrome
• c.501-10_504dup Single submitter congenital myasthenic syndrome 4B
• c.802+7A>C Single submitter congenital myasthenic syndrome 4A
• c.803-6_803-3del Single submitter
• c.918-14T>C Single submitter congenital myasthenic syndrome
• c.-95G>A Single submitter congenital myasthenic syndrome
• c.-96C>T Single submitter congenital myasthenic syndrome 4C
• c.*5C>T Single submitter congenital myasthenic syndrome
• p.Ala2= Single submitter congenital myasthenic syndrome
• p.Ala266Val Single submitter congenital myasthenic syndrome ⚠
• p.Ala372= Single submitter congenital myasthenic syndrome
• p.Ala415= Single submitter congenital myasthenic syndrome
• p.Ala477fs Single submitter congenital myasthenic syndrome 4B
• p.Arg237Leu Single submitter congenital myasthenic syndrome 4B ⚠
• p.Arg238Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg26His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg306Met Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg306Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg390Pro Single submitter Inborn genetic diseases ⚠
• p.Arg3Gly Single submitter Inborn genetic diseases ⚠
• p.Arg40Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn202Tyr Single submitter CHRNE-related disorder ⚠
• p.Asp195His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp195Tyr Single submitter congenital myasthenic syndrome 4B ⚠
• p.Cys458= Single submitter congenital myasthenic syndrome
• p.Gln169Leu Single submitter congenital myasthenic syndrome 4B ⚠
• p.Glu151del Single submitter congenital myasthenic syndrome
• p.Glu204Lys Single submitter congenital myasthenic syndrome ⚠
• p.Gly13Arg Single submitter congenital myasthenic syndrome 4B ⚠
• p.Gly186Ser Single submitter Inborn genetic diseases ⚠
• p.Gly224Asp Single submitter distal myopathy ⚠
• p.Gly256= Single submitter congenital myasthenic syndrome
• p.Gly397= Single submitter congenital myasthenic syndrome 4A
• p.Gly441Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile231Val Single submitter Inborn genetic diseases ⚠
• p.Ile290= Single submitter congenital myasthenic syndrome 4A
• p.Leu241= Single submitter congenital myasthenic syndrome
• p.Leu31Pro Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu472= Single submitter congenital myasthenic syndrome
• p.Phe120= Single submitter congenital myasthenic syndrome
• p.Phe155= Single submitter congenital myasthenic syndrome
• p.Pro141Ala Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro141Thr Single submitter congenital myasthenic syndrome ⚠
• p.Pro211Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro265Arg Single submitter congenital myasthenic syndrome ⚠
• p.Pro265Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro302Ala Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro302Leu Single submitter congenital myasthenic syndrome ⚠
• p.Pro340Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro351Arg Single submitter congenital myasthenic syndrome 4A ⚠
• p.Pro357= Single submitter congenital myasthenic syndrome
• p.Pro368= Single submitter congenital myasthenic syndrome 4A
• p.Ser163Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ser391Arg Single submitter Inborn genetic diseases ⚠
• p.Ser433= Single submitter congenital myasthenic syndrome 4A
• p.Thr137Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Thr170= Single submitter congenital myasthenic syndrome
• p.Thr179Pro Single submitter congenital myasthenic syndrome 4B ⚠
• p.Tyr35His Single submitter congenital myasthenic syndrome 4B ⚠
• p.Val301Met Single submitter congenital myasthenic syndrome ⚠
• p.Val468Met Single submitter congenital myasthenic syndrome 4A ⚠
• p.Val482= Single submitter congenital myasthenic syndrome
• p.Val8Ala Single submitter congenital myasthenic syndrome 4A ⚠

Benign 38

• c.345-55G>T Multiple submitters
• c.345-7C>T Multiple submitters congenital myasthenic syndrome
• c.46+64G>A Multiple submitters congenital myasthenic syndrome 4B
• c.500+41G>T Multiple submitters
• c.500+49C>T Multiple submitters
• c.500+60G>A Multiple submitters
• c.917+15C>G Multiple submitters congenital myasthenic syndrome 4B
• c.-70C>T Multiple submitters
• c.-8G>A Multiple submitters congenital myasthenic syndrome
• c.*144T>C Multiple submitters congenital myasthenic syndrome
• c.*437G>C Multiple submitters congenital myasthenic syndrome
• c.*61C>T Multiple submitters congenital myasthenic syndrome 4B
• c.*65C>T Multiple submitters congenital myasthenic syndrome 4B
• c.*743T>G Multiple submitters congenital myasthenic syndrome
• c.*745G>A Multiple submitters congenital myasthenic syndrome
• c.*837A>G Multiple submitters congenital myasthenic syndrome
• c.*868G>T Multiple submitters congenital myasthenic syndrome
• c.*906G>C Multiple submitters congenital myasthenic syndrome
• c.*930T>G Multiple submitters congenital myasthenic syndrome
• p.Ala173= Multiple submitters congenital myasthenic syndrome
• p.Ala431= Multiple submitters congenital myasthenic syndrome 4B
• p.Cys322= Multiple submitters congenital myasthenic syndrome
• p.Gly18Val Multiple submitters congenital myasthenic syndrome
• p.Leu15= Multiple submitters congenital myasthenic syndrome
• p.Ser339= Multiple submitters congenital myasthenic syndrome
• c.1033-9del Single submitter congenital myasthenic syndrome 4A
• c.1220-10del Single submitter congenital myasthenic syndrome 4A
• c.1326+21_1326+40del Single submitter
• c.1327-6dup Single submitter congenital myasthenic syndrome 4A
• c.500+46_500+47dup Single submitter
• c.500+47del Single submitter
• c.500+47dup Single submitter
• c.602-10del Single submitter congenital myasthenic syndrome 4A
• c.602-14C>A Single submitter congenital myasthenic syndrome 4A
• c.917+17dup Single submitter congenital myasthenic syndrome 4A
• c.-380T>A Single submitter
• c.*610C>T Single submitter congenital myasthenic syndrome
• c.*748G>A Single submitter congenital myasthenic syndrome

Benign/Likely benign 10

• c.1220-5G>A Multiple submitters congenital myasthenic syndrome
• c.344+18C>T Multiple submitters congenital myasthenic syndrome 4A
• c.918-6C>G Multiple submitters congenital myasthenic syndrome
• c.*37G>A Multiple submitters congenital myasthenic syndrome
• c.*43T>C Multiple submitters congenital myasthenic syndrome
• c.*6A>G Multiple submitters congenital myasthenic syndrome
• p.Asp185= Multiple submitters congenital myasthenic syndrome 4A
• p.Leu475= Multiple submitters congenital myasthenic syndrome
• p.Pro359Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Val468Leu Multiple submitters congenital myasthenic syndrome 4A

Likely benign 552

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

• c.1032+8C>T Multiple submitters congenital myasthenic syndrome 4A
• c.1033-8_1033-3dup Multiple submitters congenital myasthenic syndrome 4A
• c.1326+13_1326+32del Multiple submitters congenital myasthenic syndrome 4A
• c.235-48C>G Multiple submitters
• c.46+8C>T Multiple submitters congenital myasthenic syndrome 4A
• c.500+39G>A Multiple submitters
• c.917+72G>A Multiple submitters
• c.918-69A>G Multiple submitters
• p.Asn22= Multiple submitters congenital myasthenic syndrome 4A
• p.Pro140= Multiple submitters congenital myasthenic syndrome 4A
• p.Thr58= Multiple submitters congenital myasthenic syndrome 4A
• p.Val147= Multiple submitters congenital myasthenic syndrome 4A
• p.Val319= Multiple submitters congenital myasthenic syndrome 4A
• p.Val444= Multiple submitters congenital myasthenic syndrome 4A
• c.1032+10G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+10G>C Single submitter congenital myasthenic syndrome 4A
• c.1032+11A>G Single submitter congenital myasthenic syndrome 4A
• c.1032+12_1032+13insC Single submitter congenital myasthenic syndrome 4A
• c.1032+12G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+13G>C Single submitter congenital myasthenic syndrome 4A
• c.1032+14G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+14G>C Single submitter congenital myasthenic syndrome 4A
• c.1032+16G>T Single submitter congenital myasthenic syndrome 4A
• c.1032+17C>T Single submitter congenital myasthenic syndrome 4A
• c.1032+18G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+20T>G Single submitter congenital myasthenic syndrome 4A
• c.1032+7G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+9G>A Single submitter congenital myasthenic syndrome 4A
• c.1032+9G>C Single submitter congenital myasthenic syndrome 4A
• c.1032+9G>T Single submitter congenital myasthenic syndrome 4A
• c.1033-10C>T Single submitter congenital myasthenic syndrome 4A
• c.1033-11C>T Single submitter congenital myasthenic syndrome 4A
• c.1033-12C>A Single submitter congenital myasthenic syndrome 4A
• c.1033-13G>A Single submitter congenital myasthenic syndrome 4A
• c.1033-13G>T Single submitter congenital myasthenic syndrome 4A
• c.1033-14_1033-13insT Single submitter congenital myasthenic syndrome 4A
• c.1033-14C>T Single submitter congenital myasthenic syndrome 4A
• c.1033-18GCCCC[3] Single submitter congenital myasthenic syndrome 4A
• c.1033-20A>G Single submitter congenital myasthenic syndrome 4A
• c.1033-22_1033-9dup Single submitter congenital myasthenic syndrome 4A
• c.1033-3_1033-2insGCCCCTGCCCCT Single submitter congenital myasthenic syndrome 4A
• c.1033-4C>A Single submitter congenital myasthenic syndrome 4A
• c.1033-5C>A Single submitter congenital myasthenic syndrome 4A
• c.1033-5C>T Single submitter congenital myasthenic syndrome 4A
• c.1033-9C>A Single submitter congenital myasthenic syndrome 4A
• c.1219+12G>A Single submitter congenital myasthenic syndrome 4A
• c.1219+15C>T Single submitter congenital myasthenic syndrome 4A
• c.1219+16C>T Single submitter congenital myasthenic syndrome 4A
• c.1219+17T>A Single submitter congenital myasthenic syndrome 4A
• c.1219+17T>C Single submitter congenital myasthenic syndrome 4A
• c.1219+17T>G Single submitter congenital myasthenic syndrome 4A
• c.1219+19G>T Single submitter congenital myasthenic syndrome 4A
• c.1219+20_1219+25del Single submitter congenital myasthenic syndrome 4A
• c.1219+20C>G Single submitter congenital myasthenic syndrome 4A
• c.1219+20C>T Single submitter congenital myasthenic syndrome 4A
• c.1219+23G>A Single submitter congenital myasthenic syndrome 4A
• c.1219+5_1219+6dup Single submitter congenital myasthenic syndrome 4A
• c.1219+8C>G Single submitter congenital myasthenic syndrome 4A
• c.1219+8C>T Single submitter congenital myasthenic syndrome 4A
• c.1219+8dup Single submitter congenital myasthenic syndrome 4A
• c.1219+9A>G Single submitter congenital myasthenic syndrome 4A
• c.1220-14_1220-3dup Single submitter congenital myasthenic syndrome 4A
• c.1220-14G>A Single submitter congenital myasthenic syndrome 4A
• c.1220-15T>C Single submitter congenital myasthenic syndrome 4A
• c.1220-16G>A Single submitter congenital myasthenic syndrome 4A
• c.1220-17G>A Single submitter congenital myasthenic syndrome 4A
• c.1220-17G>C Single submitter congenital myasthenic syndrome 4A
• c.1220-18C>A Single submitter congenital myasthenic syndrome 4A
• c.1220-18C>T Single submitter congenital myasthenic syndrome 4A
• c.1220-19C>A Single submitter congenital myasthenic syndrome 4A
• c.1220-20C>A Single submitter congenital myasthenic syndrome 4A
• c.1220-4C>A Single submitter congenital myasthenic syndrome 4A
• c.1220-4C>G Single submitter congenital myasthenic syndrome 4A
• c.1220-4C>T Single submitter congenital myasthenic syndrome 4A
• c.1220-5G>T Single submitter congenital myasthenic syndrome 4A
• c.1220-6C>G Single submitter congenital myasthenic syndrome 4A
• c.1220-6C>T Single submitter congenital myasthenic syndrome 4A
• c.1220-7C>G Single submitter congenital myasthenic syndrome 4A
• c.1220-9C>G Single submitter congenital myasthenic syndrome 4A
• c.1326+14C>T Single submitter congenital myasthenic syndrome 4A
• c.1326+18G>A Single submitter congenital myasthenic syndrome 4A
• c.1326+20C>A Single submitter congenital myasthenic syndrome 4A
• c.1326+22G>A Single submitter
• c.1326+7C>T Single submitter congenital myasthenic syndrome 4A
• c.1326+9G>A Single submitter congenital myasthenic syndrome 4A
• c.1327-10C>T Single submitter congenital myasthenic syndrome 4A
• c.1327-13G>C Single submitter congenital myasthenic syndrome 4A
• c.1327-14C>G Single submitter congenital myasthenic syndrome 4A
• c.1327-14C>T Single submitter congenital myasthenic syndrome 4A
• c.1327-17_1327-16del Single submitter congenital myasthenic syndrome 4A
• c.1327-18G>C Single submitter congenital myasthenic syndrome 4A
• c.1327-20C>T Single submitter congenital myasthenic syndrome 4A
• c.1327-4C>G Single submitter congenital myasthenic syndrome 4A
• c.1327-5C>A Single submitter congenital myasthenic syndrome 4A
• c.1327-5C>T Single submitter congenital myasthenic syndrome 4A
• c.1327-6C>T Single submitter congenital myasthenic syndrome 4A
• c.189+10C>A Single submitter congenital myasthenic syndrome 4A
• c.189+10C>G Single submitter congenital myasthenic syndrome 4A
• c.189+10C>T Single submitter congenital myasthenic syndrome 4A
• c.189+12C>T Single submitter congenital myasthenic syndrome 4A
• c.189+13C>T Single submitter congenital myasthenic syndrome 4A
• c.189+14A>C Single submitter congenital myasthenic syndrome 4A
• c.189+16C>A Single submitter congenital myasthenic syndrome 4A
• c.189+7dup Single submitter congenital myasthenic syndrome 4A
• c.189+9C>A Single submitter congenital myasthenic syndrome 4A
• c.189+9C>T Single submitter congenital myasthenic syndrome 4A
• c.190-10C>T Single submitter congenital myasthenic syndrome 4A
• c.190-13C>G Single submitter congenital myasthenic syndrome 4A
• c.190-16C>T Single submitter congenital myasthenic syndrome 4A
• c.190-17C>G Single submitter congenital myasthenic syndrome 4A
• c.190-4G>A Single submitter congenital myasthenic syndrome 4A
• c.190-7T>C Single submitter congenital myasthenic syndrome 4A
• c.190-9C>G Single submitter congenital myasthenic syndrome 4A
• c.234+17G>A Single submitter congenital myasthenic syndrome 4A
• c.234+20T>A Single submitter congenital myasthenic syndrome 4A
• c.234+7C>T Single submitter congenital myasthenic syndrome 4A
• c.235-10C>A Single submitter congenital myasthenic syndrome 4A
• c.235-10C>T Single submitter congenital myasthenic syndrome 4A
• c.235-15T>C Single submitter congenital myasthenic syndrome 4A
• c.235-16A>G Single submitter congenital myasthenic syndrome 4A
• c.235-17C>T Single submitter congenital myasthenic syndrome 4A
• c.235-18C>A Single submitter congenital myasthenic syndrome 4A
• c.235-25C>T Single submitter
• c.235-5C>G Single submitter congenital myasthenic syndrome 4A
• c.235-6C>A Single submitter congenital myasthenic syndrome 4A
• c.235-7C>T Single submitter congenital myasthenic syndrome 4A
• c.235-8C>A Single submitter congenital myasthenic syndrome 4A
• c.344+10G>A Single submitter congenital myasthenic syndrome 4A
• c.344+14C>A Single submitter congenital myasthenic syndrome 4A
• c.344+7A>G Single submitter congenital myasthenic syndrome 4A
• c.344+8C>T Single submitter congenital myasthenic syndrome 4A
• c.344+9C>G Single submitter congenital myasthenic syndrome 4A
• c.344+9C>T Single submitter congenital myasthenic syndrome 4A
• c.345-11C>T Single submitter congenital myasthenic syndrome 4A
• c.345-12C>T Single submitter congenital myasthenic syndrome 4A
• c.345-13C>T Single submitter congenital myasthenic syndrome 4A
• c.345-17T>A Single submitter congenital myasthenic syndrome 4A
• c.345-19G>A Single submitter congenital myasthenic syndrome 4A
• c.345-19G>C Single submitter congenital myasthenic syndrome 4A
• c.345-19G>T Single submitter congenital myasthenic syndrome 4A
• c.345-20C>G Single submitter congenital myasthenic syndrome 4A
• c.345-20C>T Single submitter congenital myasthenic syndrome 4A
• c.345-4A>G Single submitter congenital myasthenic syndrome 4A
• c.345-8G>A Single submitter congenital myasthenic syndrome 4A
• c.46+11G>A Single submitter congenital myasthenic syndrome 4A
• c.46+19G>A Single submitter congenital myasthenic syndrome 4A
• c.46+20G>A Single submitter congenital myasthenic syndrome 4A
• c.46+9_46+10del Single submitter congenital myasthenic syndrome 4A
• c.47-10C>T Single submitter congenital myasthenic syndrome 4A
• c.47-11C>T Single submitter congenital myasthenic syndrome 4A
• c.47-14T>C Single submitter congenital myasthenic syndrome 4A
• c.47-4G>A Single submitter congenital myasthenic syndrome 4A
• c.47-5C>T Single submitter congenital myasthenic syndrome 4A
• c.47-6T>C Single submitter congenital myasthenic syndrome 4A
• c.47-8dup Single submitter congenital myasthenic syndrome 4A
• c.500+16C>T Single submitter congenital myasthenic syndrome 4A
• c.500+17C>T Single submitter congenital myasthenic syndrome 4A
• c.500+18G>A Single submitter congenital myasthenic syndrome 4A
• c.500+8_500+9delinsTT Single submitter congenital myasthenic syndrome 4A
• c.500+8G>T Single submitter congenital myasthenic syndrome 4A
• c.500+9A>C Single submitter congenital myasthenic syndrome 4A
• c.500+9A>G Single submitter congenital myasthenic syndrome 4A
• c.501-12C>G Single submitter congenital myasthenic syndrome 4A
• c.501-12C>T Single submitter congenital myasthenic syndrome 4A
• c.501-15G>A Single submitter congenital myasthenic syndrome 4A
• c.501-17_501-5dup Single submitter congenital myasthenic syndrome 4A
• c.501-17C>T Single submitter congenital myasthenic syndrome 4A
• c.501-18C>T Single submitter congenital myasthenic syndrome 4A
• c.501-19C>T Single submitter congenital myasthenic syndrome 4A
• c.501-4G>A Single submitter congenital myasthenic syndrome 4A
• c.501-4G>T Single submitter congenital myasthenic syndrome 4A
• c.501-5C>T Single submitter congenital myasthenic syndrome 4A
• c.501-7T>C Single submitter congenital myasthenic syndrome 4A
• c.601+10C>T Single submitter congenital myasthenic syndrome 4A
• c.601+127del Single submitter
• c.601+14C>G Single submitter congenital myasthenic syndrome 4A
• c.601+14C>T Single submitter congenital myasthenic syndrome 4A
• c.601+19del Single submitter congenital myasthenic syndrome 4A
• c.601+7C>A Single submitter congenital myasthenic syndrome 4A
• c.601+8C>T Single submitter congenital myasthenic syndrome 4A
• c.601+9_601+10dup Single submitter congenital myasthenic syndrome 4A
• c.601+9C>T Single submitter congenital myasthenic syndrome 4A
• c.602-10C>G Single submitter congenital myasthenic syndrome 4A
• c.602-10C>T Single submitter congenital myasthenic syndrome 4A
• c.602-11C>A Single submitter congenital myasthenic syndrome 4A
• c.602-12C>T Single submitter congenital myasthenic syndrome 4A
• c.602-13C>T Single submitter congenital myasthenic syndrome 4A
• c.602-14C>G Single submitter congenital myasthenic syndrome 4A
• c.602-14C>T Single submitter congenital myasthenic syndrome 4A
• c.602-17G>A Single submitter congenital myasthenic syndrome 4A
• c.602-18C>T Single submitter congenital myasthenic syndrome 4A
• c.602-19C>A Single submitter congenital myasthenic syndrome 4A
• c.602-19C>T Single submitter congenital myasthenic syndrome 4A
• c.602-4G>A Single submitter congenital myasthenic syndrome 4A
• c.602-4G>T Single submitter congenital myasthenic syndrome 4A
• c.602-5C>T Single submitter congenital myasthenic syndrome 4A
• c.602-6C>T Single submitter congenital myasthenic syndrome 4A
• c.602-7C>T Single submitter congenital myasthenic syndrome 4A
• c.602-8_602-7insGA Single submitter congenital myasthenic syndrome 4A
• c.602-9dup Single submitter congenital myasthenic syndrome 4A
• c.602-9G>A Single submitter congenital myasthenic syndrome 4A
• c.602-9G>T Single submitter congenital myasthenic syndrome 4A
• c.802+10G>A Single submitter congenital myasthenic syndrome 4A
• c.802+12C>T Single submitter congenital myasthenic syndrome 4A
• c.802+13C>T Single submitter congenital myasthenic syndrome 4A
• c.802+15C>G Single submitter congenital myasthenic syndrome 4A
• c.802+15C>T Single submitter congenital myasthenic syndrome 4A
• c.802+16G>A Single submitter congenital myasthenic syndrome 4A
• c.802+17A>C Single submitter congenital myasthenic syndrome 4A
• c.802+18A>C Single submitter congenital myasthenic syndrome 4A
• c.802+18A>G Single submitter congenital myasthenic syndrome 4A
• c.802+9T>C Single submitter congenital myasthenic syndrome 4A
• c.802+9T>G Single submitter congenital myasthenic syndrome 4A
• c.803-10C>G Single submitter congenital myasthenic syndrome 4A
• c.803-10C>T Single submitter congenital myasthenic syndrome 4A
• c.803-12C>G Single submitter congenital myasthenic syndrome 4A
• c.803-12C>T Single submitter congenital myasthenic syndrome 4A
• c.803-12del Single submitter congenital myasthenic syndrome 4A
• c.803-14_803-5dup Single submitter congenital myasthenic syndrome 4A
• c.803-15T>C Single submitter congenital myasthenic syndrome 4A
• c.803-16C>A Single submitter congenital myasthenic syndrome 4A
• c.803-17_803-8dup Single submitter congenital myasthenic syndrome 4A
• c.803-6C>T Single submitter congenital myasthenic syndrome 4A
• c.803-7C>T Single submitter congenital myasthenic syndrome 4A
• c.803-8C>T Single submitter congenital myasthenic syndrome 4A
• c.917+13C>A Single submitter congenital myasthenic syndrome 4A
• c.917+13C>T Single submitter congenital myasthenic syndrome 4A
• c.917+15C>A Single submitter congenital myasthenic syndrome 4A
• c.917+15C>T Single submitter congenital myasthenic syndrome 4A
• c.917+16C>T Single submitter congenital myasthenic syndrome 4A
• c.917+17C>G Single submitter congenital myasthenic syndrome 4A
• c.917+17C>T Single submitter congenital myasthenic syndrome 4A
• c.917+18G>A Single submitter congenital myasthenic syndrome 4A
• c.917+19C>A Single submitter congenital myasthenic syndrome 4A
• c.917+20G>A Single submitter congenital myasthenic syndrome 4A
• c.917+7C>A Single submitter congenital myasthenic syndrome 4A
• c.917+7C>T Single submitter congenital myasthenic syndrome 4A
• c.917+8C>A Single submitter congenital myasthenic syndrome 4A
• c.917+8C>T Single submitter congenital myasthenic syndrome 4A
• c.917+94C>A Single submitter
• c.917+9G>A Single submitter congenital myasthenic syndrome 4A
• c.917+9G>T Single submitter congenital myasthenic syndrome 4A
• c.918-10G>C Single submitter congenital myasthenic syndrome 4A
• c.918-118C>T Single submitter
• c.918-12C>T Single submitter congenital myasthenic syndrome 4A
• c.918-13C>T Single submitter congenital myasthenic syndrome 4A
• c.918-14T>G Single submitter congenital myasthenic syndrome 4A
• c.918-16C>T Single submitter congenital myasthenic syndrome 4A
• c.918-17C>A Single submitter congenital myasthenic syndrome 4A
• c.918-17C>G Single submitter congenital myasthenic syndrome 4A
• c.918-17C>T Single submitter congenital myasthenic syndrome 4A
• c.918-19T>C Single submitter congenital myasthenic syndrome 4A
• c.918-268C>T Single submitter
• c.918-4T>C Single submitter congenital myasthenic syndrome 4A
• c.918-5C>T Single submitter congenital myasthenic syndrome 4A
• c.918-6C>T Single submitter congenital myasthenic syndrome 4A
• c.918-8C>G Single submitter congenital myasthenic syndrome 4A
• c.918-8C>T Single submitter congenital myasthenic syndrome 4A
• c.918-9G>A Single submitter congenital myasthenic syndrome 4A
• c.*858G>C Single submitter congenital myasthenic syndrome
• p.Ala142= Single submitter congenital myasthenic syndrome 4A
• p.Ala181= Single submitter congenital myasthenic syndrome 4A
• p.Ala198= Single submitter congenital myasthenic syndrome 4A
• p.Ala261= Single submitter congenital myasthenic syndrome 4A
• p.Ala266= Single submitter congenital myasthenic syndrome 4A
• p.Ala268= Single submitter congenital myasthenic syndrome 4A
• p.Ala282= Single submitter congenital myasthenic syndrome 4A
• p.Ala291= Single submitter congenital myasthenic syndrome 4A
• p.Ala315= Single submitter congenital myasthenic syndrome 4A
• p.Ala337= Single submitter congenital myasthenic syndrome 4A
• p.Ala362= Single submitter congenital myasthenic syndrome 4A
• p.Ala365= Single submitter congenital myasthenic syndrome 4A
• p.Ala366= Single submitter congenital myasthenic syndrome 4A
• p.Ala381= Single submitter congenital myasthenic syndrome 4A
• p.Ala416= Single submitter congenital myasthenic syndrome 4A
• p.Ala417= Single submitter congenital myasthenic syndrome 4A
• p.Ala426= Single submitter congenital myasthenic syndrome 4A
• p.Ala439= Single submitter congenital myasthenic syndrome 4A
• p.Ala453= Single submitter congenital myasthenic syndrome 4A
• p.Ala461= Single submitter congenital myasthenic syndrome 4A
• p.Ala477= Single submitter congenital myasthenic syndrome 4A
• p.Ala488Thr Single submitter congenital myasthenic syndrome 4A
• p.Arg145= Single submitter congenital myasthenic syndrome 4A
• p.Arg17= Single submitter congenital myasthenic syndrome 4A
• p.Arg215= Single submitter congenital myasthenic syndrome 4A
• p.Arg216= Single submitter congenital myasthenic syndrome 4A
• p.Arg237= Single submitter congenital myasthenic syndrome 4A
• p.Arg238= Single submitter congenital myasthenic syndrome 4A
• p.Arg331= Single submitter congenital myasthenic syndrome 4A
• p.Arg341= Single submitter congenital myasthenic syndrome 4A
• p.Arg343= Single submitter congenital myasthenic syndrome 4A
• p.Arg352= Single submitter congenital myasthenic syndrome 4A
• p.Arg364= Single submitter congenital myasthenic syndrome 4A
• p.Arg370= Single submitter congenital myasthenic syndrome 4A
• p.Arg371= Single submitter congenital myasthenic syndrome 4A
• p.Arg380= Single submitter congenital myasthenic syndrome 4A
• p.Arg390= Single submitter congenital myasthenic syndrome 4A
• p.Arg399= Single submitter congenital myasthenic syndrome 4A
• p.Arg401= Single submitter congenital myasthenic syndrome 4A
• p.Arg435= Single submitter congenital myasthenic syndrome 4A

Uncertain significance 429

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

• c.1326+6A>C Multiple submitters congenital myasthenic syndrome
• c.46+3A>G Multiple submitters congenital myasthenic syndrome 4A
• c.602-4_602-3delinsTT Multiple submitters congenital myasthenic syndrome 4A
• c.*315T>G Multiple submitters congenital myasthenic syndrome
• c.*855C>T Multiple submitters congenital myasthenic syndrome
• p.Ala206Val Multiple submitters ⚠
• p.Ala261Ser Multiple submitters congenital myasthenic syndrome ⚠
• p.Ala362Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ala366Pro Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ala372Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala408Gly Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ala417Val Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ala488Val Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg145Cys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg216Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg237Cys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg237His Multiple submitters Inborn genetic diseases ⚠
• p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg Multiple submitters congenital myasthenic syndrome 4A
• p.Arg343Cys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg380Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg390Trp Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg401Trp Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg421Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg421His Multiple submitters Inborn genetic diseases ⚠
• p.Arg43Trp Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg449Cys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg449His Multiple submitters Inborn genetic diseases ⚠
• p.Arg449Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Arg481Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg99Gln Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Asn127Thr Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Asn184Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Asn190Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Asp223Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp446Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp79His Multiple submitters Inborn genetic diseases ⚠
• p.Cys210Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Cys410Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Cys423Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gln169Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gln330Arg Multiple submitters Inborn genetic diseases ⚠
• p.Glu174Lys Multiple submitters CHRNE-related disorder ⚠
• p.Glu348Lys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Glu419Lys Multiple submitters Inborn genetic diseases ⚠
• p.Glu443Gln Multiple submitters Inborn genetic diseases ⚠
• p.Glu68Gln Multiple submitters Inborn genetic diseases ⚠
• p.Gly16Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gly186Asp Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gly224Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gly355Ala Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gly355Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Gly469Ala Multiple submitters Inborn genetic diseases ⚠
• p.His218Pro Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.His344Arg Multiple submitters Inborn genetic diseases ⚠
• p.His344Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ile194Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile236del Multiple submitters congenital myasthenic syndrome 4A
• p.Ile248del Multiple submitters congenital myasthenic syndrome 4A
• p.Ile277Val Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ile385Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile457Thr Multiple submitters Inborn genetic diseases ⚠
• p.Leu104Pro Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu11Phe Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu129_Val130del Multiple submitters congenital myasthenic syndrome 4A
• p.Leu299Pro Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu350Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu379Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu485Phe Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu60Phe Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu6Phe Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Leu9Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Lys187Met Multiple submitters Inborn genetic diseases ⚠
• p.Met320Ile Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Phe120Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Phe286Val Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro101Ala Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro340Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro340Gln Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro340Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro351Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro357Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro358Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro359Ser Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Pro360del Multiple submitters congenital myasthenic syndrome 4A
• p.Pro360dup Multiple submitters congenital myasthenic syndrome
• p.Pro368Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro489Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ser135Cys Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ser146Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser356Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ser367Leu Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Ser391Ile Multiple submitters congenital myasthenic syndrome 4A
• p.Ser52Asn Multiple submitters Inborn genetic diseases ⚠
• p.Thr153Ser Multiple submitters Inborn genetic diseases ⚠
• p.Thr170Arg Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Thr170Met Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Thr200Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr274Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr284Ile Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Thr316Met Multiple submitters Inborn genetic diseases ⚠
• p.Thr335Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr335Ile Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Thr404Ile Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Trp447Ser Multiple submitters ptosis ⚠
• p.Val128Met Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Val136Met Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Val147Ile Multiple submitters congenital myasthenic syndrome 4B ⚠
• p.Val152Asp Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Val427Met Multiple submitters Inborn genetic diseases ⚠
• p.Val430Gly Multiple submitters congenital myasthenic syndrome ⚠
• p.Val430Met Multiple submitters congenital myasthenic syndrome 4A ⚠
• p.Val464Met Multiple submitters congenital myasthenic syndrome 4A ⚠
• c.1032+25C>T Single submitter
• c.1032+3A>C Single submitter congenital myasthenic syndrome 4A
• c.1032+6C>T Single submitter
• c.1033-6_1033-1dup Single submitter congenital myasthenic syndrome 4A
• c.1219+33G>A Single submitter
• c.1220-3C>T Single submitter congenital myasthenic syndrome 4A
• c.1326+20C>T Single submitter congenital myasthenic syndrome 4A
• c.1327-21_1327-18del Single submitter congenital myasthenic syndrome 4A
• c.1327-3C>T Single submitter congenital myasthenic syndrome 4A
• c.189+5G>A Single submitter congenital myasthenic syndrome 4A
• c.46+4_46+8del Single submitter congenital myasthenic syndrome 4A
• c.46+4C>T Single submitter congenital myasthenic syndrome 4A
• c.46+5G>C Single submitter congenital myasthenic syndrome 4A
• c.500+5G>T Single submitter congenital myasthenic syndrome 4A
• c.501-3C>T Single submitter congenital myasthenic syndrome 4A
• c.802+6C>T Single submitter congenital myasthenic syndrome 4A
• c.917+271C>G Single submitter congenital myasthenic syndrome 4B ⚠
• c.917+372C>T Single submitter ⚠
• c.917+5A>G Single submitter
• c.917+6G>T Single submitter
• c.*125C>T Single submitter congenital myasthenic syndrome
• c.*206G>A Single submitter congenital myasthenic syndrome
• c.*24C>T Single submitter congenital myasthenic syndrome
• c.*267C>T Single submitter congenital myasthenic syndrome
• c.*329T>A Single submitter congenital myasthenic syndrome
• c.*366G>A Single submitter congenital myasthenic syndrome
• c.*383G>A Single submitter congenital myasthenic syndrome
• c.*388C>T Single submitter congenital myasthenic syndrome
• c.*38G>A Single submitter congenital myasthenic syndrome
• c.*556C>T Single submitter congenital myasthenic syndrome
• c.*572C>G Single submitter congenital myasthenic syndrome
• c.*590C>T Single submitter congenital myasthenic syndrome
• c.*597G>A Single submitter congenital myasthenic syndrome
• c.*622C>T Single submitter congenital myasthenic syndrome
• c.*805T>G Single submitter congenital myasthenic syndrome
• c.*806G>A Single submitter congenital myasthenic syndrome
• c.*836C>T Single submitter congenital myasthenic syndrome
• c.*852G>A Single submitter congenital myasthenic syndrome
• c.*875C>T Single submitter congenital myasthenic syndrome
• c.*876G>A Single submitter congenital myasthenic syndrome
• c.*902C>T Single submitter congenital myasthenic syndrome
• c.*903G>A Single submitter congenital myasthenic syndrome
• p.Ala126Phe Single submitter congenital myasthenic syndrome 4A
• p.Ala126Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala149Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala181Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala221Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala268Pro Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala337Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala362Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala362Thr Single submitter Inborn genetic diseases ⚠
• p.Ala362Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala365Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala365Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala372Pro Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala381Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala381Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala408Thr Single submitter congenital myasthenic syndrome 4B ⚠
• p.Ala415Thr Single submitter Inborn genetic diseases ⚠
• p.Ala431Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala431Thr Single submitter congenital myasthenic syndrome ⚠
• p.Ala453Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ala461Ser Single submitter Inborn genetic diseases ⚠
• p.Ala461Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg216_His217insArg Single submitter congenital myasthenic syndrome 4A
• p.Arg216His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg26Cys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg306Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg341Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg341Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg343Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg343Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg352His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg352Ser Single submitter Inborn genetic diseases ⚠
• p.Arg364Leu Single submitter Inborn genetic diseases ⚠
• p.Arg364Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg371Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg371Trp Single submitter Inborn genetic diseases ⚠
• p.Arg380Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg401Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg421Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg481Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Arg481Pro Single submitter Inborn genetic diseases ⚠
• p.Arg481Ter Single submitter congenital myasthenic syndrome 4A
• p.Arg84= Single submitter
• p.Arg84Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn115Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn127Ser Single submitter ⚠
• p.Asn172Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn172Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn278Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn327Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn33His Single submitter ⚠
• p.Asn34del Single submitter
• p.Asn428Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn480Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn480Thr Single submitter Inborn genetic diseases ⚠
• p.Asn59Ile Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asn86= Single submitter congenital myasthenic syndrome 4A
• p.Asp125Asn Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp125Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp158His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp193Asn Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp229Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp36Ala Single submitter congenital myasthenic syndrome ⚠
• p.Asp446Asn Single submitter Inborn genetic diseases ⚠
• p.Asp446Glu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp455Asn Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp455Val Single submitter ⚠
• p.Asp47Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp484His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp79Glu Single submitter ⚠
• p.Asp79Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Asp82Asn Single submitter congenital myasthenic syndrome ⚠
• p.Cys210Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Cys251Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Cys322Tyr Single submitter ⚠
• p.Gln119Glu Single submitter ⚠
• p.Gln398Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gln402Arg Single submitter congenital myasthenic syndrome ⚠
• p.Gln437Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu103Asp Single submitter ⚠
• p.Glu109Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu113Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu383del Single submitter congenital myasthenic syndrome 4A
• p.Glu392Asp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu438Asp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu438del Single submitter congenital myasthenic syndrome 4A
• p.Glu442= Single submitter congenital myasthenic syndrome 4A
• p.Glu46Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu65Gly Single submitter congenital myasthenic syndrome 4A ⚠
• p.Glu68Lys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly118Asp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly121Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly133Asp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly134Asp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly134Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly18Ala Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly18Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly203Ala Single submitter ⚠
• p.Gly203Cys Single submitter Inborn genetic diseases ⚠
• p.Gly203Ser Single submitter Inborn genetic diseases ⚠
• p.Gly20Arg Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly220Ala Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly270Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly305Cys Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly305Val Single submitter
• p.Gly376Asp Single submitter ⚠
• p.Gly403Arg Single submitter Inborn genetic diseases ⚠
• p.Gly403Glu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly441= Single submitter congenital myasthenic syndrome 4A
• p.Gly441Ala Single submitter ⚠
• p.Gly469Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Gly94Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.His217Arg Single submitter ⚠
• p.His218Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.His29Tyr Single submitter Inborn genetic diseases ⚠
• p.His336Asn Single submitter Inborn genetic diseases ⚠
• p.His336Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.His336Pro Single submitter congenital myasthenic syndrome 4A ⚠
• p.His336Tyr Single submitter congenital myasthenic syndrome 4A ⚠
• p.His344= Single submitter congenital myasthenic syndrome 4A
• p.His344Gln Single submitter congenital myasthenic syndrome 4A ⚠
• p.His400Pro Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile110Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile110Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile143Thr Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile194Phe Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile207Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile235Met Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile248Leu Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile248Met Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile248Phe Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile290_Gln292del Single submitter
• p.Ile473Met Single submitter ⚠
• p.Ile491Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile61Phe Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile61Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Ile95Lys Single submitter ⚠
• p.Leu12Ser Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu12Trp Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu14His Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu25Val Single submitter ⚠
• p.Leu260Phe Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu27Val Single submitter Inborn genetic diseases ⚠
• p.Leu289Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu317Val Single submitter congenital myasthenic syndrome 4A ⚠
• p.Leu31Phe Single submitter ⚠