CLCN1 — 1667 ClinVar variants

Pathogenic 151

• c.2172+1G>A Multiple submitters myotonia congenita, autosomal dominant
• c.2172+1G>T Multiple submitters myotonia congenita, autosomal dominant
• c.2364+2T>A Multiple submitters myotonia congenita, autosomal recessive
• c.696+1G>A Multiple submitters myotonia congenita, autosomal recessive
• c.774+1G>A Multiple submitters myotonia congenita, autosomal recessive
• p.Ala313Val Multiple submitters Skeletal muscle channelopathy
• p.Ala531Val Multiple submitters myotonia congenita, autosomal recessive
• p.Arg317Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Arg377Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Arg421fs Multiple submitters myotonia congenita, autosomal dominant
• p.Arg496Ser Multiple submitters CLCN1-related disorder
• p.Arg626Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Cys277fs Multiple submitters myotonia congenita, autosomal recessive
• p.Gln160Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Gln675fs Multiple submitters myotonia congenita, autosomal dominant
• p.Gln74Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Gln807Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Gln879Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Glu422Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Glu717fs Multiple submitters myotonia congenita, autosomal recessive
• p.Gly230Glu Multiple submitters myotonia congenita, autosomal dominant
• p.Gly285Glu Multiple submitters Skeletal muscle channelopathy
• p.Gly499Arg Multiple submitters myotonia congenita, autosomal recessive
• p.Ile290Met Multiple submitters CLCN1-related disorder ⚠
• p.Ile527Ser Multiple submitters myotonia congenita, autosomal recessive
• p.Ile553Phe Multiple submitters myotonia congenita, autosomal recessive
• p.Leu121fs Multiple submitters myotonia congenita, autosomal dominant
• p.Leu127fs Multiple submitters myotonia congenita, autosomal recessive
• p.Leu157fs Multiple submitters myotonia congenita, autosomal dominant
• p.Leu840fs Multiple submitters myotonia congenita, autosomal dominant
• p.Lys248Ter Multiple submitters Skeletal muscle channelopathy
• p.Met485Val Multiple submitters CLCN1-related myotonia congenita ⚠
• p.Met560Thr Multiple submitters myotonia congenita, autosomal dominant
• p.Met646Ile Multiple submitters myotonia congenita, autosomal recessive
• p.Phe428fs Multiple submitters myotonia congenita, autosomal recessive
• p.Ser149fs Multiple submitters myotonia congenita, autosomal recessive
• p.Ser264fs Multiple submitters myotonia congenita, autosomal dominant
• p.Ser642Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Thr310Met Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Thr550= Multiple submitters myotonia congenita, autosomal recessive
• p.Thr550Met Multiple submitters myotonia congenita, autosomal dominant
• p.Trp303Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Trp595Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Tyr150Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Tyr257Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Tyr686Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Val273Met Multiple submitters myotonia congenita, autosomal dominant
• c.1401+1G>A Single submitter myotonia congenita, autosomal recessive
• c.1471+1G>T Single submitter myotonia congenita, autosomal recessive
• c.1472-2A>G Single submitter myotonia congenita, autosomal dominant
• c.1582+1G>A Single submitter myotonia congenita, autosomal dominant
• c.2172+1G>C Single submitter myotonia congenita, autosomal dominant
• c.2285-1G>C Single submitter myotonia congenita, autosomal recessive
• c.434-55_464del Single submitter myotonia congenita, autosomal recessive
• c.50_434-202del Single submitter myotonia congenita, autosomal recessive
• c.854-2A>G Single submitter myotonia congenita, autosomal recessive
• c.979+1G>T Single submitter myotonia congenita, autosomal recessive
• p.Ala145fs Single submitter myotonia congenita, autosomal recessive
• p.Ala331fs Single submitter myotonia congenita, autosomal recessive
• p.Ala415Val Single submitter myotonia congenita, autosomal dominant
• p.Ala437fs Single submitter myotonia congenita, autosomal recessive
• p.Arg453fs Single submitter myotonia congenita, autosomal recessive
• p.Asn39fs Single submitter myotonia congenita, autosomal dominant
• p.Asp429fs Single submitter
• p.Gln21fs Single submitter myotonia congenita, autosomal recessive
• p.Gln371fs Single submitter myotonia congenita, autosomal dominant
• p.Gln412Pro Single submitter myotonia congenita, autosomal dominant
• p.Gln597fs Single submitter myotonia congenita, autosomal recessive
• p.Gln662fs Single submitter myotonia congenita, autosomal recessive
• p.Gln675Ter Single submitter
• p.Gln68Ter Single submitter myotonia congenita, autosomal recessive
• p.Gln754fs Single submitter myotonia congenita, autosomal recessive
• p.Gln788Ter Single submitter myotonia congenita, autosomal dominant
• p.Gln7Ter Single submitter myotonia congenita, autosomal recessive
• p.Gln823Ter Single submitter myotonia congenita, autosomal dominant
• p.Gln827Ter Single submitter myotonia congenita, autosomal recessive
• p.Glu12fs Single submitter myotonia congenita, autosomal recessive
• p.Glu347fs Single submitter myotonia congenita, autosomal recessive
• p.Glu548fs Single submitter myotonia congenita, autosomal dominant
• p.Glu548Ter Single submitter myotonia congenita, autosomal dominant
• p.Glu67fs Single submitter myotonia congenita, autosomal dominant
• p.Glu724= Single submitter Skeletal muscle channelopathy
• p.Glu871fs Single submitter myotonia congenita, autosomal recessive
• p.Glu928fs Single submitter myotonia congenita, autosomal recessive
• p.Gly118= Single submitter myotonia congenita, autosomal recessive
• p.Gly190Ala Single submitter Skeletal muscle channelopathy
• p.Gly190Ter Single submitter Skeletal muscle channelopathy
• p.Gly200Arg Single submitter myotonia congenita, autosomal recessive
• p.Gly200Glu Single submitter Skeletal muscle channelopathy
• p.Gly270Val Single submitter myotonia congenita, autosomal recessive
• p.Gly395fs Single submitter
• p.Gly650Cys Single submitter myotonia congenita, autosomal recessive
• p.Ile424fs Single submitter myotonia congenita, autosomal recessive
• p.Leu130fs Single submitter myotonia congenita, autosomal dominant
• p.Leu173fs Single submitter myotonia congenita, autosomal dominant
• p.Leu287Gln Single submitter myotonia congenita, autosomal recessive
• p.Leu427fs Single submitter myotonia congenita, autosomal recessive
• p.Leu637Ter Single submitter myotonia congenita, autosomal recessive
• p.Leu648fs Single submitter myotonia congenita, autosomal dominant
• p.Leu660fs Single submitter myotonia congenita, autosomal recessive
• p.Leu671fs Single submitter myotonia congenita, autosomal dominant
• p.Leu731fs Single submitter myotonia congenita, autosomal dominant
• p.Leu739fs Single submitter myotonia congenita, autosomal recessive
• p.Leu861fs Single submitter myotonia congenita, autosomal dominant
• p.Lys215Arg Single submitter myotonia congenita, autosomal recessive
• p.Lys215fs Single submitter myotonia congenita, autosomal recessive
• p.Lys783fs Single submitter myotonia congenita, autosomal dominant
• p.Lys856fs Single submitter myotonia congenita, autosomal dominant
• p.Lys895fs Single submitter myotonia congenita, autosomal dominant
• p.Phe306Leu Single submitter myotonia congenita, autosomal dominant
• p.Pro480His Single submitter myotonia congenita, autosomal recessive
• p.Pro480Leu Single submitter myotonia congenita, autosomal recessive
• p.Pro486fs Single submitter
• p.Pro521fs Single submitter myotonia congenita, autosomal recessive
• p.Pro521Leu Single submitter myotonia congenita, autosomal recessive
• p.Pro698fs Single submitter myotonia congenita, autosomal dominant
• p.Pro758fs Single submitter myotonia congenita, autosomal recessive
• p.Ser251fs Single submitter myotonia congenita, autosomal recessive
• p.Ser617fs Single submitter myotonia congenita, autosomal dominant
• p.Ser682fs Single submitter myotonia congenita, autosomal recessive
• p.Ser70Ter Single submitter myotonia congenita, autosomal recessive
• p.Ser734fs Single submitter myotonia congenita, autosomal dominant
• p.Ser842fs Single submitter myotonia congenita, autosomal recessive
• p.Ser886fs Single submitter myotonia congenita, autosomal dominant
• p.Ser892Ter Single submitter myotonia congenita, autosomal recessive
• p.Ser941fs Single submitter myotonia congenita, autosomal recessive
• p.Thr59fs Single submitter myotonia congenita, autosomal recessive
• p.Thr782fs Single submitter myotonia congenita, autosomal recessive
• p.Thr832Ile Single submitter myotonia congenita, autosomal recessive
• p.Trp133Ter Single submitter
• p.Trp148Ter Single submitter myotonia congenita, autosomal recessive
• p.Trp303Arg Single submitter Skeletal muscle channelopathy
• p.Trp322Ter Single submitter myotonia congenita, autosomal recessive
• p.Trp433Ter Single submitter myotonia congenita, autosomal recessive
• p.Trp469Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr137fs Single submitter
• p.Tyr137Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr206Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr261Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr33Ter Single submitter myotonia congenita, autosomal dominant
• p.Tyr393Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr96Ter Single submitter myotonia congenita, autosomal dominant
• p.Val448_Trp449insTer Single submitter myotonia congenita, autosomal recessive
• p.Val457del Single submitter Skeletal muscle channelopathy
• p.Val640fs Single submitter myotonia congenita, autosomal recessive
• p.Val922fs Single submitter myotonia congenita, autosomal recessive
• c.979+1G>A No assertion criteria myotonia congenita, autosomal recessive
• p.Arg300Ter No assertion criteria myotonia congenita, autosomal recessive
• p.Arg672Gly No assertion criteria hypokalemic periodic paralysis, type 1 ⚠
• p.Arg672His No assertion criteria hyperkalemic periodic paralysis ⚠
• p.Pro480Thr No assertion criteria myotonia congenita, autosomal dominant

Pathogenic/Likely pathogenic 68

• c.1167-10T>C Multiple submitters myotonia congenita, autosomal dominant
• c.1401+1G>T Multiple submitters myotonia congenita, autosomal recessive
• c.1471+1G>A Multiple submitters myotonia congenita, autosomal recessive
• c.180+3A>T Multiple submitters myotonia congenita, autosomal recessive
• c.1930+1G>A Multiple submitters myotonia congenita, autosomal dominant
• c.2365-1G>T Multiple submitters myotonia congenita, autosomal dominant
• c.2596-1G>A Multiple submitters myotonia congenita, autosomal dominant
• c.302-1G>A Multiple submitters myotonia congenita, autosomal recessive
• c.302-2A>C Multiple submitters myotonia congenita, autosomal dominant
• c.434-1_437del Multiple submitters myotonia congenita, autosomal recessive
• c.562+1G>C Multiple submitters myotonia congenita, autosomal recessive
• c.697-1G>A Multiple submitters myotonia congenita, autosomal dominant
• p.Ala298Thr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ala313Thr Multiple submitters myotonia congenita, autosomal dominant
• p.Ala350fs Multiple submitters myotonia congenita, autosomal dominant
• p.Ala493Glu Multiple submitters myotonia congenita, autosomal recessive
• p.Ala566Thr Multiple submitters Skeletal muscle channelopathy
• p.Ala673fs Multiple submitters myotonia congenita, autosomal recessive
• p.Arg317Gln Multiple submitters Limb pain
• p.Arg338Gln Multiple submitters CLCN1-related disorder ⚠
• p.Arg338Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Arg421Cys Multiple submitters myotonia congenita, autosomal dominant
• p.Arg894Ter Multiple submitters Skeletal muscle channelopathy
• p.Cys242Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Cys254Trp Multiple submitters Batten-Turner congenital myopathy ⚠
• p.Cys277Arg Multiple submitters myotonia congenita, autosomal recessive
• p.Gln13Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Gln259Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Gln43Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Gln552Arg Multiple submitters myotonia congenita, autosomal dominant
• p.Gln812Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Glu258= Multiple submitters myotonia congenita, autosomal recessive
• p.Glu291Lys Multiple submitters myotonia congenita, autosomal recessive
• p.Glu548Lys Multiple submitters myotonia congenita, autosomal recessive
• p.Glu624fs Multiple submitters myotonia congenita, autosomal recessive
• p.Glu656fs Multiple submitters myotonia congenita, autosomal recessive
• p.Glu801Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Gly11fs Multiple submitters myotonia congenita, autosomal recessive
• p.Gly233Ser Multiple submitters myotonia congenita, autosomal recessive
• p.Gly355Arg Multiple submitters Skeletal muscle channelopathy
• p.Gly411Cys Multiple submitters myotonia congenita, autosomal dominant
• p.Gly416Glu Multiple submitters myotonia congenita, autosomal recessive
• p.Gly41fs Multiple submitters Inborn genetic diseases
• p.Gly482Arg Multiple submitters myotonia congenita, autosomal recessive
• p.Gly523Asp Multiple submitters myotonia congenita, autosomal dominant
• p.Gly945fs Multiple submitters Skeletal muscle channelopathy
• p.Ile556Asn Multiple submitters myotonia congenita, autosomal recessive
• p.Leu159fs Multiple submitters myotonia congenita, autosomal recessive
• p.Leu198Pro Multiple submitters myotonia congenita, autosomal recessive
• p.Leu198Val Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Leu629Pro Multiple submitters myotonia congenita, autosomal dominant
• p.Leu637fs Multiple submitters myotonia congenita, autosomal dominant
• p.Met128Val Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Phe235fs Multiple submitters myotonia congenita, autosomal recessive
• p.Phe307Ser Multiple submitters myotonia congenita, autosomal recessive
• p.Phe413Cys Multiple submitters Skeletal muscle channelopathy
• p.Phe484Leu Multiple submitters myotonia congenita, autosomal dominant
• p.Pro480fs Multiple submitters myotonia congenita, autosomal dominant
• p.Thr268Met Multiple submitters CLCN1-related disorder ⚠
• p.Thr539fs Multiple submitters myotonia congenita, autosomal dominant
• p.Thr550Arg Multiple submitters myotonia congenita, autosomal dominant
• p.Thr735fs Multiple submitters myotonia congenita, autosomal recessive
• p.Trp16Ter Multiple submitters myotonia congenita, autosomal recessive
• p.Tyr137Asp Multiple submitters myotonia congenita, autosomal recessive
• p.Val229Met Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val327Ile Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val851Met Multiple submitters myotonia congenita, autosomal recessive
• p.Val88= Multiple submitters myotonia congenita, autosomal dominant

Likely pathogenic 111

• c.180+1G>A Multiple submitters myotonia congenita, autosomal recessive
• c.2284+1G>T Multiple submitters myotonia congenita, autosomal dominant
• c.2403+5G>A Multiple submitters myotonia congenita, autosomal recessive
• c.433+1G>A Multiple submitters myotonia congenita, autosomal dominant
• c.697-1G>C Multiple submitters myotonia congenita, autosomal dominant
• p.Ala331Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp117Gly Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gln160His Multiple submitters myotonia congenita, autosomal dominant
• p.Glu193Lys Multiple submitters myotonia congenita, autosomal recessive
• p.Glu724Asp Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly188Ala Multiple submitters myotonia congenita, autosomal recessive
• p.Gly285Val Multiple submitters myotonia congenita, autosomal recessive
• p.Gly491Glu Multiple submitters myotonia congenita, autosomal recessive
• p.Gly859Asp Multiple submitters myotonia congenita, autosomal recessive
• p.Leu843Pro Multiple submitters myotonia congenita, autosomal dominant
• p.Pro480Ser Multiple submitters myotonia congenita, autosomal dominant
• p.Trp164Arg Multiple submitters Skeletal muscle channelopathy
• p.Trp433Arg Multiple submitters myotonia congenita, autosomal dominant
• p.Val536Leu Multiple submitters myotonia congenita, autosomal dominant
• c.1064+1G>A Single submitter myotonia congenita, autosomal recessive
• c.1064+2T>C Single submitter myotonia congenita, autosomal recessive
• c.1167-2A>C Single submitter myotonia congenita, autosomal dominant
• c.1247_1251+8del Single submitter myotonia congenita, autosomal recessive
• c.1252-1G>T Single submitter myotonia congenita, autosomal recessive
• c.1471+2del Single submitter myotonia congenita, autosomal recessive
• c.1796+1G>A Single submitter myotonia congenita, autosomal recessive
• c.180+2_180+8del Single submitter myotonia congenita, autosomal recessive
• c.181-2A>G Single submitter myotonia congenita, autosomal dominant
• c.1931-1G>A Single submitter myotonia congenita, autosomal dominant
• c.1931-1G>C Single submitter myotonia congenita, autosomal recessive
• c.2284+1G>A Single submitter myotonia congenita, autosomal recessive
• c.2364+2T>C Single submitter myotonia congenita, autosomal dominant
• c.2365-1G>A Single submitter myotonia congenita, autosomal dominant
• c.2403+1G>A Single submitter myotonia congenita, autosomal dominant
• c.2508+2T>A Single submitter
• c.2509-2A>C Single submitter myotonia congenita, autosomal recessive
• c.301+2T>G Single submitter myotonia congenita, autosomal dominant
• c.434-1G>A Single submitter myotonia congenita, autosomal recessive
• c.562+2T>G Single submitter myotonia congenita, autosomal recessive
• c.697-620T>G Single submitter myotonia congenita, autosomal recessive
• c.774+3A>C Single submitter myotonia congenita, autosomal recessive
• c.854-1G>A Single submitter myotonia congenita, autosomal recessive
• c.980-2A>G Single submitter myotonia congenita, autosomal recessive
• p.Ala298Val Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala331Thr Single submitter myotonia congenita, autosomal dominant
• p.Ala531_Leu532insTer Single submitter myotonia congenita, autosomal recessive
• p.Ala531fs Single submitter myotonia congenita, autosomal recessive
• p.Ala543Thr Single submitter Skeletal muscle channelopathy
• p.Arg304fs Single submitter myotonia congenita, autosomal recessive
• p.Arg317Pro Single submitter myotonia congenita, autosomal recessive
• p.Asn301fs Single submitter myotonia congenita, autosomal recessive
• p.Asn567His Single submitter myotonia congenita, autosomal dominant
• p.Asp579fs Single submitter myotonia congenita, autosomal recessive
• p.Cys254Ter Single submitter
• p.Cys277Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Cys666fs Single submitter myotonia congenita, autosomal recessive
• p.Cys99Ter Single submitter myotonia congenita, autosomal recessive
• p.Gln43Arg Single submitter ⚠
• p.Gln662Ter Single submitter myotonia congenita, autosomal recessive
• p.Gln809_Leu810insGluGln Single submitter
• p.Glu116fs Single submitter myotonia congenita, autosomal recessive
• p.Glu291Gln Single submitter myotonia congenita, autosomal recessive
• p.Glu291Ter Single submitter myotonia congenita, autosomal recessive
• p.Glu668Ter Single submitter myotonia congenita, autosomal recessive
• p.Glu695Ter Single submitter myotonia congenita, autosomal recessive
• p.Glu724Ala Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gly190Val Single submitter myotonia congenita, autosomal dominant
• p.Gly305Arg Single submitter myotonia congenita, autosomal dominant
• p.Gly34Ter Single submitter Skeletal muscle channelopathy
• p.Gly416Arg Single submitter myotonia congenita, autosomal recessive
• p.Gly482_Gly483del Single submitter
• p.Gly495Glu Single submitter myotonia congenita, autosomal recessive
• p.His54fs Single submitter myotonia congenita, autosomal recessive
• p.His555fs Single submitter Lumbar hyperlordosis
• p.His555Tyr Single submitter
• p.Ile191Phe Single submitter myotonia congenita, autosomal dominant
• p.Ile290Thr Single submitter myotonia congenita, autosomal dominant
• p.Ile556Phe Single submitter myotonia congenita, autosomal dominant
• p.Leu106fs Single submitter myotonia congenita, autosomal recessive
• p.Leu283Phe Single submitter myotonia congenita, autosomal dominant ⚠
• p.Leu287Ile Single submitter myotonia congenita, autosomal dominant
• p.Leu287Pro Single submitter myotonia congenita, autosomal dominant
• p.Leu332Arg Single submitter Skeletal muscle channelopathy
• p.Lys215Asn Single submitter myotonia congenita, autosomal dominant
• p.Lys231Asn Single submitter myotonia congenita, autosomal dominant
• p.Lys680Ter Single submitter myotonia congenita, autosomal dominant
• p.Met419Leu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Met485Lys Single submitter myotonia congenita, autosomal recessive
• p.Met504fs Single submitter myotonia congenita, autosomal recessive
• p.Phe297fs Single submitter myotonia congenita, autosomal recessive
• p.Phe314fs Single submitter myotonia congenita, autosomal recessive
• p.Phe316Ile Single submitter myotonia congenita, autosomal dominant
• p.Phe337Cys Single submitter myotonia congenita, autosomal dominant
• p.Ser599Asn Single submitter ⚠
• p.Ser651Pro Single submitter myotonia congenita, autosomal dominant
• p.Thr31fs Single submitter myotonia congenita, autosomal recessive
• p.Thr550Ala Single submitter
• p.Thr633fs Single submitter myotonia congenita, autosomal recessive
• p.Trp433Leu Single submitter myotonia congenita, autosomal dominant
• p.Trp805Ter Single submitter myotonia congenita, autosomal recessive
• p.Tyr367fs Single submitter myotonia congenita, autosomal recessive
• p.Tyr850Ter Single submitter myotonia congenita, autosomal dominant
• p.Val187fs Single submitter myotonia congenita, autosomal recessive
• p.Val202fs Single submitter myotonia congenita, autosomal recessive
• p.Val465Phe Single submitter Batten-Turner congenital myopathy ⚠
• p.Glu683Ter No assertion criteria CLCN1-related disorder
• p.Pro727fs No assertion criteria CLCN1-related disorder
• p.Thr328Asn No assertion criteria myotonia congenita, autosomal dominant
• p.Thr539Ala No assertion criteria myotonia congenita, autosomal dominant
• p.Tyr367Ter No assertion criteria CLCN1-related disorder
• p.Val878Met No assertion criteria Tip-toe gait ⚠

Conflicting classifications of pathogenicity 121

• c.1251+11G>T Single submitter Batten-Turner congenital myopathy
• c.1251+14G>A Single submitter myotonia congenita, autosomal recessive
• c.1582+5G>A Single submitter myotonia congenita, autosomal recessive
• c.1583-13T>A Single submitter myotonia congenita, autosomal recessive
• c.1796+7G>C Single submitter myotonia congenita, autosomal recessive
• c.2284+12C>G Single submitter myotonia congenita, autosomal dominant
• c.2284+5C>T Single submitter myotonia congenita, autosomal dominant
• c.2508+1G>A Single submitter myotonia congenita, autosomal recessive
• c.2595+1G>A Single submitter myotonia congenita, autosomal recessive
• c.434-2_434dup Single submitter myotonia congenita, autosomal recessive
• c.563-8G>A Single submitter myotonia congenita, autosomal dominant
• c.563-9C>A Single submitter myotonia congenita, autosomal recessive
• c.697-9C>A Single submitter Batten-Turner congenital myopathy
• c.853+17C>A Single submitter myotonia congenita, autosomal dominant
• c.980-3C>G Single submitter myotonia congenita, autosomal recessive
• c.*29C>A Single submitter Batten-Turner congenital myopathy
• p.Ala308_Phe311del Single submitter myotonia congenita, autosomal recessive
• p.Ala320Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala402Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala415Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala437Val Single submitter Inborn genetic diseases ⚠
• p.Ala566Val Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala673Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala849Thr Single submitter dystonia, early-onset, and/or spastic paraplegia ⚠
• p.Arg105Cys Single submitter Batten-Turner congenital myopathy ⚠
• p.Arg105His Single submitter Inborn genetic diseases ⚠
• p.Arg300Gln Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg421His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg421Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg453Gln Single submitter Inborn genetic diseases ⚠
• p.Arg47Trp Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg5Trp Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg611His Single submitter Batten-Turner congenital myopathy ⚠
• p.Asn567Lys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asn745Ser Single submitter Batten-Turner congenital myopathy ⚠
• p.Asn908Asp Single submitter Inborn genetic diseases ⚠
• p.Asp439Tyr Single submitter ⚠
• p.Asp592Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Cys271Arg Single submitter myotonia congenita, autosomal dominant ⚠
• p.Cys271Tyr Single submitter Inborn genetic diseases ⚠
• p.Cys481= Single submitter myotonia congenita, autosomal dominant
• p.Gln412= Single submitter myotonia congenita, autosomal dominant
• p.Gln583Arg Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gln753Pro Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gln788Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Glu193Ala Single submitter myotonia congenita, autosomal dominant ⚠
• p.Glu417Gly Single submitter myotonia congenita, autosomal recessive ⚠
• p.Glu422Lys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Glu955Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Glu980= Single submitter myotonia congenita, autosomal recessive
• p.Gly188Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gly190Arg Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gly190Ser Single submitter Rigidity
• p.Gly255Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gly255Trp Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gly276Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gly285Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gly355Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gly482Glu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gly523Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gly688delinsValArg Single submitter myotonia congenita, autosomal recessive
• p.Gly898Glu Single submitter Inborn genetic diseases ⚠
• p.Gly945Ser Single submitter Inborn genetic diseases ⚠
• p.Gly945Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.His104Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.His29Pro Single submitter Batten-Turner congenital myopathy ⚠
• p.Ile354Ser Single submitter Inborn genetic diseases ⚠
• p.Ile527Thr Single submitter myotonia congenita, autosomal recessive ⚠
• p.Leu267= Single submitter
• p.Leu427Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Leu648Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Lys231Glu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Lys467Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Lys614Asn Single submitter myotonia congenita, autosomal dominant ⚠
• p.Met646Thr Single submitter myotonia congenita, autosomal recessive ⚠
• p.Phe167Leu Single submitter Skeletal muscle channelopathy ⚠
• p.Phe235= Single submitter myotonia congenita, autosomal recessive
• p.Phe343Leu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Phe428Ser Single submitter myotonia congenita, autosomal recessive ⚠
• p.Phe463Cys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Phe464= Single submitter Batten-Turner congenital myopathy
• p.Phe494Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Pro408Ala Single submitter Skeletal muscle channelopathy ⚠
• p.Pro452Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Pro52= Single submitter Batten-Turner congenital myopathy
• p.Pro558Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Pro558Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Pro744Thr Single submitter dystonia, early-onset, and/or spastic paraplegia ⚠
• p.Pro781Ser Single submitter Inborn genetic diseases ⚠
• p.Pro882Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Pro930fs Single submitter myotonia congenita, autosomal recessive
• p.Ser132Thr Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ser264Phe Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ser740Cys Single submitter Inborn genetic diseases ⚠
• p.Ser941Phe Single submitter myotonia congenita, autosomal dominant ⚠
• p.Thr328Ala Single submitter ⚠
• p.Thr432Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.Thr627Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Thr631Ile Single submitter myotonia congenita, autosomal recessive ⚠
• p.Thr87Ser Single submitter Inborn genetic diseases ⚠
• p.Thr929Ser Single submitter myotonia congenita, autosomal recessive ⚠
• p.Trp303Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Trp433Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Tyr261Cys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Tyr302Cys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Tyr524Cys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Tyr850= Single submitter Batten-Turner congenital myopathy
• p.Val138Ile Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val165Gly Single submitter myotonia congenita, autosomal recessive ⚠
• p.Val236Ala Single submitter myotonia congenita, autosomal recessive ⚠
• p.Val236Ile Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val236Leu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val252= Single submitter Batten-Turner congenital myopathy
• p.Val275= Single submitter myotonia congenita, autosomal dominant
• p.Val299Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Val321Glu Single submitter Batten-Turner congenital myopathy ⚠
• p.Val366Ala Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val536Ala Single submitter myotonia congenita, autosomal recessive ⚠
• p.Val536Ile Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val640Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Val88Met Single submitter myotonia congenita, autosomal dominant ⚠

Benign 51

• c.1065-108G>A Multiple submitters myotonia congenita, autosomal recessive
• c.1167-141G>T Multiple submitters myotonia congenita, autosomal dominant
• c.1401+17T>C Multiple submitters myotonia congenita, autosomal recessive
• c.1402-28G>A Multiple submitters
• c.1402-9C>T Multiple submitters myotonia congenita, autosomal dominant
• c.1472-56T>A Multiple submitters
• c.1582+66T>C Multiple submitters
• c.1583-62A>C Multiple submitters
• c.1796+76A>G Multiple submitters
• c.1797-9C>T Multiple submitters myotonia congenita, autosomal dominant
• c.1931-62G>A Multiple submitters
• c.2172+128A>G Multiple submitters
• c.2172+172A>G Multiple submitters
• c.2284+33C>G Multiple submitters myotonia congenita, autosomal recessive
• c.2285-65G>C Multiple submitters
• c.2364+67G>A Multiple submitters
• c.2365-102C>T Multiple submitters
• c.2365-114A>G Multiple submitters
• c.2365-65T>C Multiple submitters
• c.2404-90C>T Multiple submitters
• c.301+27T>A Multiple submitters myotonia congenita, autosomal recessive
• c.302-4C>T Multiple submitters myotonia congenita, autosomal recessive
• c.433+72C>G Multiple submitters myotonia congenita, autosomal recessive
• c.563-23A>T Multiple submitters
• c.774+146T>C Multiple submitters
• c.774+170G>A Multiple submitters
• c.-135T>G Multiple submitters
• c.-14C>A Multiple submitters
• c.-15T>G Multiple submitters
• c.-16C>G Multiple submitters
• p.Ala437Thr Multiple submitters myotonia congenita, autosomal recessive
• c.1166+204T>C Single submitter
• c.1401+180C>A Single submitter
• c.1583-117A>G Single submitter
• c.1930+182G>A Single submitter
• c.1931-293C>A Single submitter
• c.2595+139_2595+140del Single submitter
• c.2595+140del Single submitter
• c.2595+140dup Single submitter
• c.2595+216C>T Single submitter
• c.302-110TC[14] Single submitter
• c.302-110TC[15] Single submitter
• c.302-110TC[17] Single submitter
• c.302-61A>T Single submitter
• c.853+17del Single submitter myotonia congenita, autosomal recessive
• c.853+17dup Single submitter myotonia congenita, autosomal recessive
• c.853+23dup Single submitter myotonia congenita, autosomal dominant
• c.-16_-14delinsGGA Single submitter
• p.His664Tyr Single submitter myotonia congenita, autosomal dominant ⚠
• p.Leu848= Single submitter myotonia congenita, autosomal dominant
• p.Ser959Gly Single submitter myotonia congenita, autosomal recessive

Benign/Likely benign 16

• c.1065-16T>C Multiple submitters myotonia congenita, autosomal dominant
• c.563-9C>T Multiple submitters myotonia congenita, autosomal dominant
• c.-21C>T Multiple submitters Batten-Turner congenital myopathy
• p.Arg300= Multiple submitters Batten-Turner congenital myopathy
• p.Arg9His Multiple submitters myotonia congenita, autosomal dominant
• p.Asp712= Multiple submitters Batten-Turner congenital myopathy
• p.Asp718= Multiple submitters myotonia congenita, autosomal dominant
• p.Gln154Arg Multiple submitters Batten-Turner congenital myopathy
• p.Gly118Trp Multiple submitters myotonia congenita, autosomal recessive
• p.Leu106Val Multiple submitters myotonia congenita, autosomal dominant
• p.Pro727Leu Multiple submitters myotonia congenita, autosomal dominant
• p.Thr268= Multiple submitters Batten-Turner congenital myopathy
• p.Thr736Ile Multiple submitters Batten-Turner congenital myopathy ⚠
• p.Tyr150= Multiple submitters myotonia congenita, autosomal dominant
• p.Val217= Multiple submitters myotonia congenita, autosomal dominant
• p.Val605= Multiple submitters myotonia congenita, autosomal recessive

Likely benign 548

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

• c.1401+13A>T Multiple submitters myotonia congenita, autosomal recessive
• c.1582+7A>T Multiple submitters myotonia congenita, autosomal dominant
• c.1583-12G>A Multiple submitters myotonia congenita, autosomal dominant
• c.2284+19G>A Multiple submitters myotonia congenita, autosomal recessive
• c.2284+42G>A Multiple submitters
• c.2285-15C>A Multiple submitters myotonia congenita, autosomal recessive
• c.2364+10G>A Multiple submitters Batten-Turner congenital myopathy
• c.2365-126G>A Multiple submitters
• c.2403+51T>C Multiple submitters
• c.2509-16T>G Multiple submitters myotonia congenita, autosomal dominant
• c.2509-3C>T Multiple submitters myotonia congenita, autosomal dominant
• c.2595+163G>C Multiple submitters
• c.2596-312T>C Multiple submitters
• c.2596-9G>T Multiple submitters myotonia congenita, autosomal dominant
• c.433+32G>A Multiple submitters
• c.434-14A>G Multiple submitters myotonia congenita, autosomal dominant
• c.434-4G>A Multiple submitters myotonia congenita, autosomal dominant
• c.697-15C>A Multiple submitters myotonia congenita, autosomal recessive
• c.853+19C>A Multiple submitters myotonia congenita, autosomal dominant
• c.853+214G>T Multiple submitters
• p.Ala211= Multiple submitters myotonia congenita, autosomal dominant
• p.Ala531= Multiple submitters Batten-Turner congenital myopathy
• p.Ala535= Multiple submitters myotonia congenita, autosomal dominant
• p.Asn430= Multiple submitters myotonia congenita, autosomal dominant
• p.Asp592= Multiple submitters myotonia congenita, autosomal dominant
• p.Asp979= Multiple submitters myotonia congenita, autosomal recessive
• p.Glu606= Multiple submitters myotonia congenita, autosomal dominant
• p.His847= Multiple submitters myotonia congenita, autosomal dominant
• p.Ile329= Multiple submitters myotonia congenita, autosomal dominant
• p.Leu123= Multiple submitters myotonia congenita, autosomal dominant
• p.Leu219= Multiple submitters myotonia congenita, autosomal recessive
• p.Phe494= Multiple submitters myotonia congenita, autosomal dominant
• p.Phe708= Multiple submitters myotonia congenita, autosomal recessive
• p.Pro698= Multiple submitters myotonia congenita, autosomal recessive
• p.Ser240= Multiple submitters myotonia congenita, autosomal dominant
• p.Ser933= Multiple submitters myotonia congenita, autosomal recessive
• p.Thr621= Multiple submitters myotonia congenita, autosomal dominant
• p.Tyr589= Multiple submitters myotonia congenita, autosomal recessive
• p.Val256= Multiple submitters myotonia congenita, autosomal recessive
• c.1064+10G>T Single submitter myotonia congenita, autosomal recessive
• c.1064+17G>C Single submitter myotonia congenita, autosomal recessive
• c.1064+19T>C Single submitter myotonia congenita, autosomal dominant
• c.1064+20C>G Single submitter myotonia congenita, autosomal recessive
• c.1065-13dup Single submitter myotonia congenita, autosomal recessive
• c.1065-15A>G Single submitter myotonia congenita, autosomal recessive
• c.1065-17A>C Single submitter myotonia congenita, autosomal recessive
• c.1065-5C>T Single submitter myotonia congenita, autosomal recessive
• c.1065-7C>T Single submitter myotonia congenita, autosomal recessive
• c.1166+10T>A Single submitter myotonia congenita, autosomal recessive
• c.1166+10T>C Single submitter myotonia congenita, autosomal recessive
• c.1166+14C>T Single submitter myotonia congenita, autosomal dominant
• c.1166+15T>G Single submitter myotonia congenita, autosomal recessive
• c.1166+17C>G Single submitter myotonia congenita, autosomal dominant
• c.1166+19T>C Single submitter myotonia congenita, autosomal dominant
• c.1167-14dup Single submitter myotonia congenita, autosomal recessive
• c.1167-15C>T Single submitter myotonia congenita, autosomal recessive
• c.1167-16T>G Single submitter myotonia congenita, autosomal recessive
• c.1167-196C>G Single submitter
• c.1251+12G>T Single submitter myotonia congenita, autosomal recessive
• c.1251+17G>A Single submitter myotonia congenita, autosomal recessive
• c.1251+9T>C Single submitter myotonia congenita, autosomal recessive
• c.1252-10C>T Single submitter myotonia congenita, autosomal recessive
• c.1252-7C>T Single submitter myotonia congenita, autosomal recessive
• c.1401+11T>G Single submitter myotonia congenita, autosomal recessive
• c.1401+19_1401+20insTG Single submitter myotonia congenita, autosomal recessive
• c.1401+20C>A Single submitter myotonia congenita, autosomal recessive
• c.1401+20C>T Single submitter myotonia congenita, autosomal recessive
• c.1401+7_1401+12dup Single submitter myotonia congenita, autosomal recessive
• c.1401+9C>T Single submitter myotonia congenita, autosomal dominant
• c.1402-16C>T Single submitter myotonia congenita, autosomal recessive
• c.1402-17G>A Single submitter myotonia congenita, autosomal recessive
• c.1402-18C>T Single submitter myotonia congenita, autosomal dominant
• c.1402-19A>G Single submitter myotonia congenita, autosomal recessive
• c.1402-4C>A Single submitter myotonia congenita, autosomal recessive
• c.1402-9_1402-8delinsTC Single submitter myotonia congenita, autosomal recessive
• c.1471+11A>T Single submitter myotonia congenita, autosomal recessive
• c.1471+13G>A Single submitter myotonia congenita, autosomal recessive
• c.1471+14G>A Single submitter myotonia congenita, autosomal recessive
• c.1471+15G>A Single submitter myotonia congenita, autosomal recessive
• c.1471+15G>T Single submitter myotonia congenita, autosomal recessive
• c.1471+16A>T Single submitter myotonia congenita, autosomal dominant
• c.1471+17A>G Single submitter myotonia congenita, autosomal dominant
• c.1471+20C>T Single submitter myotonia congenita, autosomal recessive
• c.1471+65G>A Single submitter
• c.1471+9T>C Single submitter myotonia congenita, autosomal recessive
• c.1472-14T>C Single submitter myotonia congenita, autosomal dominant
• c.1472-18C>T Single submitter myotonia congenita, autosomal recessive
• c.1472-19C>T Single submitter myotonia congenita, autosomal recessive
• c.1472-66T>C Single submitter
• c.1472-6C>T Single submitter myotonia congenita, autosomal dominant
• c.1472-8C>A Single submitter myotonia congenita, autosomal recessive
• c.1582+11T>G Single submitter myotonia congenita, autosomal recessive
• c.1582+12T>A Single submitter myotonia congenita, autosomal dominant
• c.1582+14C>A Single submitter myotonia congenita, autosomal recessive
• c.1582+17C>T Single submitter myotonia congenita, autosomal dominant
• c.1582+47G>T Single submitter
• c.1583-10G>A Single submitter myotonia congenita, autosomal recessive
• c.1583-12G>C Single submitter myotonia congenita, autosomal dominant
• c.1583-15C>A Single submitter myotonia congenita, autosomal recessive
• c.1583-169T>G Single submitter
• c.1583-20G>A Single submitter myotonia congenita, autosomal recessive
• c.1796+15A>G Single submitter myotonia congenita, autosomal dominant
• c.1796+16C>T Single submitter myotonia congenita, autosomal dominant
• c.1796+17G>A Single submitter myotonia congenita, autosomal dominant
• c.1796+7G>A Single submitter myotonia congenita, autosomal dominant
• c.1796+8G>A Single submitter myotonia congenita, autosomal recessive
• c.1796+8G>T Single submitter myotonia congenita, autosomal recessive
• c.1797-10C>T Single submitter myotonia congenita, autosomal dominant
• c.1797-14T>C Single submitter myotonia congenita, autosomal dominant
• c.1797-18T>C Single submitter myotonia congenita, autosomal dominant
• c.1797-19A>G Single submitter myotonia congenita, autosomal recessive
• c.1797-20C>G Single submitter myotonia congenita, autosomal recessive
• c.180+10T>C Single submitter myotonia congenita, autosomal dominant
• c.180+11C>T Single submitter myotonia congenita, autosomal dominant
• c.180+12T>C Single submitter myotonia congenita, autosomal dominant
• c.180+18G>A Single submitter myotonia congenita, autosomal dominant
• c.180+18G>C Single submitter myotonia congenita, autosomal recessive
• c.180+8G>T Single submitter myotonia congenita, autosomal recessive
• c.181-12C>G Single submitter myotonia congenita, autosomal recessive
• c.181-14C>G Single submitter myotonia congenita, autosomal recessive
• c.181-277C>T Single submitter
• c.1930+108T>C Single submitter
• c.1930+15A>G Single submitter myotonia congenita, autosomal dominant
• c.1930+16G>A Single submitter myotonia congenita, autosomal recessive
• c.1930+7G>A Single submitter myotonia congenita, autosomal recessive
• c.1930+8G>A Single submitter myotonia congenita, autosomal dominant
• c.1931-16C>T Single submitter myotonia congenita, autosomal recessive
• c.1931-19G>C Single submitter myotonia congenita, autosomal recessive
• c.1931-200T>C Single submitter
• c.1931-20A>C Single submitter myotonia congenita, autosomal recessive
• c.1931-5C>T Single submitter myotonia congenita, autosomal dominant
• c.2172+105A>C Single submitter
• c.2172+62CTGGG[7] Single submitter
• c.2172+8_2172+9insA Single submitter myotonia congenita, autosomal recessive
• c.2172+9G>A Single submitter myotonia congenita, autosomal recessive
• c.2173-14dup Single submitter myotonia congenita, autosomal dominant
• c.2173-15T>A Single submitter myotonia congenita, autosomal recessive
• c.2173-16T>C Single submitter myotonia congenita, autosomal dominant
• c.2173-17C>T Single submitter myotonia congenita, autosomal recessive
• c.2284+12C>T Single submitter myotonia congenita, autosomal dominant
• c.2284+13C>T Single submitter myotonia congenita, autosomal recessive
• c.2284+15T>C Single submitter myotonia congenita, autosomal recessive
• c.2284+17A>G Single submitter myotonia congenita, autosomal dominant
• c.2284+7C>G Single submitter myotonia congenita, autosomal dominant
• c.2285-10G>A Single submitter myotonia congenita, autosomal dominant
• c.2285-12C>G Single submitter myotonia congenita, autosomal recessive
• c.2285-13C>T Single submitter myotonia congenita, autosomal recessive
• c.2285-18A>G Single submitter myotonia congenita, autosomal dominant
• c.2285-5C>G Single submitter myotonia congenita, autosomal recessive
• c.2285-5C>T Single submitter myotonia congenita, autosomal recessive
• c.2285-7C>T Single submitter myotonia congenita, autosomal recessive
• c.2285-8C>T Single submitter myotonia congenita, autosomal recessive
• c.2364+13G>A Single submitter myotonia congenita, autosomal dominant
• c.2364+13G>T Single submitter myotonia congenita, autosomal dominant
• c.2364+20G>A Single submitter myotonia congenita, autosomal recessive
• c.2364+7G>C Single submitter myotonia congenita, autosomal recessive
• c.2364+8G>A Single submitter myotonia congenita, autosomal dominant
• c.2365-12T>C Single submitter myotonia congenita, autosomal recessive
• c.2365-14T>C Single submitter myotonia congenita, autosomal recessive
• c.2365-20C>T Single submitter myotonia congenita, autosomal recessive
• c.2365-9C>G Single submitter myotonia congenita, autosomal dominant
• c.2403+14A>C Single submitter myotonia congenita, autosomal recessive
• c.2404-14C>A Single submitter myotonia congenita, autosomal recessive
• c.2404-20T>C Single submitter myotonia congenita, autosomal dominant
• c.2404-7C>T Single submitter myotonia congenita, autosomal recessive
• c.2508+11T>G Single submitter myotonia congenita, autosomal recessive
• c.2508+12G>A Single submitter myotonia congenita, autosomal dominant
• c.2508+12G>C Single submitter myotonia congenita, autosomal recessive
• c.2508+20C>T Single submitter myotonia congenita, autosomal dominant
• c.2508+7del Single submitter myotonia congenita, autosomal dominant
• c.2509-14C>G Single submitter myotonia congenita, autosomal recessive
• c.2509-19C>G Single submitter myotonia congenita, autosomal recessive
• c.2509-9C>T Single submitter myotonia congenita, autosomal recessive
• c.2595+12G>A Single submitter myotonia congenita, autosomal recessive
• c.2595+14_2595+15del Single submitter myotonia congenita, autosomal recessive
• c.2595+17C>A Single submitter myotonia congenita, autosomal recessive
• c.2595+18C>T Single submitter myotonia congenita, autosomal recessive
• c.2595+58G>C Single submitter
• c.2595+8C>T Single submitter myotonia congenita, autosomal dominant
• c.2595+9G>A Single submitter myotonia congenita, autosomal recessive
• c.2596-16T>A Single submitter myotonia congenita, autosomal recessive
• c.2596-201C>T Single submitter
• c.2596-4T>G Single submitter myotonia congenita, autosomal dominant
• c.2596-7T>C Single submitter myotonia congenita, autosomal recessive
• c.2596-8C>T Single submitter myotonia congenita, autosomal recessive
• c.2596-9G>C Single submitter myotonia congenita, autosomal recessive
• c.301+13G>A Single submitter myotonia congenita, autosomal recessive
• c.301+14A>G Single submitter myotonia congenita, autosomal dominant
• c.302-110TC[18] Single submitter
• c.302-110TC[20] Single submitter
• c.302-110TC[22] Single submitter
• c.302-12A>T Single submitter myotonia congenita, autosomal recessive
• c.302-13C>T Single submitter myotonia congenita, autosomal recessive
• c.302-170G>T Single submitter
• c.302-17C>T Single submitter myotonia congenita, autosomal recessive
• c.302-18T>C Single submitter myotonia congenita, autosomal recessive
• c.302-20T>G Single submitter myotonia congenita, autosomal dominant
• c.302-37T>C Single submitter
• c.302-44_302-18del Single submitter myotonia congenita, autosomal recessive
• c.302-5C>T Single submitter myotonia congenita, autosomal recessive
• c.302-6T>C Single submitter myotonia congenita, autosomal dominant
• c.302-8C>T Single submitter myotonia congenita, autosomal dominant
• c.302-9T>G Single submitter myotonia congenita, autosomal recessive
• c.433+11C>A Single submitter myotonia congenita, autosomal recessive
• c.433+12C>A Single submitter myotonia congenita, autosomal recessive
• c.433+13T>C Single submitter myotonia congenita, autosomal dominant
• c.433+150G>A Single submitter
• c.433+185G>A Single submitter
• c.433+18C>T Single submitter myotonia congenita, autosomal dominant
• c.433+78C>T Single submitter
• c.434-10G>A Single submitter myotonia congenita, autosomal dominant
• c.434-12G>T Single submitter myotonia congenita, autosomal recessive
• c.434-14A>C Single submitter myotonia congenita, autosomal dominant
• c.434-17G>C Single submitter myotonia congenita, autosomal recessive
• c.434-4G>C Single submitter myotonia congenita, autosomal recessive
• c.434-5C>T Single submitter myotonia congenita, autosomal dominant
• c.434-6C>T Single submitter myotonia congenita, autosomal recessive
• c.562+15C>T Single submitter myotonia congenita, autosomal recessive
• c.562+18G>T Single submitter myotonia congenita, autosomal recessive
• c.562+19A>C Single submitter myotonia congenita, autosomal dominant
• c.563-12C>T Single submitter myotonia congenita, autosomal dominant
• c.563-17T>C Single submitter myotonia congenita, autosomal recessive
• c.563-19A>G Single submitter myotonia congenita, autosomal dominant
• c.696+14G>A Single submitter myotonia congenita, autosomal recessive
• c.696+14G>T Single submitter myotonia congenita, autosomal dominant
• c.696+16C>G Single submitter myotonia congenita, autosomal dominant
• c.696+20A>C Single submitter myotonia congenita, autosomal recessive
• c.697-12C>T Single submitter myotonia congenita, autosomal recessive
• c.697-13C>A Single submitter myotonia congenita, autosomal recessive
• c.697-15C>T Single submitter myotonia congenita, autosomal recessive
• c.697-16G>A Single submitter myotonia congenita, autosomal dominant
• c.697-17C>T Single submitter myotonia congenita, autosomal recessive
• c.697-19C>T Single submitter myotonia congenita, autosomal recessive
• c.697-258C>G Single submitter
• c.697-7C>T Single submitter myotonia congenita, autosomal recessive
• c.697-9C>G Single submitter myotonia congenita, autosomal recessive
• c.774+13C>G Single submitter myotonia congenita, autosomal recessive
• c.774+464C>T Single submitter
• c.775-10C>T Single submitter myotonia congenita, autosomal recessive
• c.775-12C>T Single submitter myotonia congenita, autosomal recessive
• c.775-14C>T Single submitter myotonia congenita, autosomal recessive
• c.775-16_775-13del Single submitter myotonia congenita, autosomal recessive
• c.775-16G>C Single submitter myotonia congenita, autosomal recessive
• c.775-268A>T Single submitter
• c.775-6T>C Single submitter myotonia congenita, autosomal recessive
• c.775-7C>T Single submitter myotonia congenita, autosomal dominant
• c.775-8C>T Single submitter myotonia congenita, autosomal recessive
• c.853+13C>A Single submitter myotonia congenita, autosomal recessive
• c.853+13C>T Single submitter myotonia congenita, autosomal recessive
• c.853+14C>A Single submitter myotonia congenita, autosomal recessive
• c.853+14C>T Single submitter myotonia congenita, autosomal dominant
• c.853+16C>G Single submitter myotonia congenita, autosomal recessive
• c.853+18T>C Single submitter myotonia congenita, autosomal dominant
• c.853+19C>T Single submitter myotonia congenita, autosomal recessive
• c.853+7G>A Single submitter myotonia congenita, autosomal recessive
• c.854-16T>A Single submitter myotonia congenita, autosomal dominant
• c.854-17C>T Single submitter myotonia congenita, autosomal recessive
• c.854-18A>G Single submitter myotonia congenita, autosomal dominant
• c.854-4G>A Single submitter myotonia congenita, autosomal recessive
• c.854-8C>T Single submitter
• c.854-9C>G Single submitter myotonia congenita, autosomal recessive
• c.979+12G>T Single submitter myotonia congenita, autosomal dominant
• c.979+20G>A Single submitter myotonia congenita, autosomal recessive
• c.979+9G>A Single submitter myotonia congenita, autosomal recessive
• c.980-10C>T Single submitter myotonia congenita, autosomal recessive
• c.980-135A>G Single submitter
• c.980-15C>A Single submitter myotonia congenita, autosomal recessive
• c.980-16C>T Single submitter myotonia congenita, autosomal dominant
• c.980-17G>T Single submitter myotonia congenita, autosomal dominant
• c.980-18G>C Single submitter myotonia congenita, autosomal dominant
• c.980-20C>A Single submitter myotonia congenita, autosomal dominant
• c.980-20C>G Single submitter myotonia congenita, autosomal recessive
• c.980-20C>T Single submitter myotonia congenita, autosomal recessive
• c.980-4A>G Single submitter myotonia congenita, autosomal recessive
• c.980-5T>C Single submitter myotonia congenita, autosomal recessive
• c.980-8T>C Single submitter myotonia congenita, autosomal recessive
• c.980-9A>G Single submitter myotonia congenita, autosomal recessive
• c.*29C>T Single submitter Batten-Turner congenital myopathy
• c.*30G>A Single submitter Batten-Turner congenital myopathy
• p.Ala145= Single submitter myotonia congenita, autosomal dominant
• p.Ala151= Single submitter myotonia congenita, autosomal dominant
• p.Ala214= Single submitter myotonia congenita, autosomal recessive
• p.Ala221= Single submitter myotonia congenita, autosomal dominant
• p.Ala244= Single submitter myotonia congenita, autosomal recessive
• p.Ala298= Single submitter myotonia congenita, autosomal dominant
• p.Ala331= Single submitter myotonia congenita, autosomal recessive
• p.Ala402= Single submitter myotonia congenita, autosomal dominant
• p.Ala437= Single submitter myotonia congenita, autosomal recessive
• p.Ala492= Single submitter myotonia congenita, autosomal recessive
• p.Ala503= Single submitter myotonia congenita, autosomal dominant
• p.Ala554= Single submitter myotonia congenita, autosomal recessive
• p.Ala566= Single submitter myotonia congenita, autosomal recessive
• p.Ala674= Single submitter myotonia congenita, autosomal recessive
• p.Ala700= Single submitter myotonia congenita, autosomal recessive
• p.Ala869= Single submitter myotonia congenita, autosomal dominant
• p.Ala924= Single submitter myotonia congenita, autosomal dominant
• p.Ala967= Single submitter myotonia congenita, autosomal recessive
• p.Arg317= Single submitter myotonia congenita, autosomal dominant
• p.Arg377= Single submitter myotonia congenita, autosomal recessive
• p.Arg421= Single submitter myotonia congenita, autosomal recessive

Uncertain significance 601

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

• c.1166+5G>A Multiple submitters myotonia congenita, autosomal recessive
• c.2172+3G>A Multiple submitters myotonia congenita, autosomal dominant
• c.2284+3G>A Multiple submitters myotonia congenita, autosomal dominant
• c.2365-3T>C Multiple submitters myotonia congenita, autosomal dominant
• c.2403+4A>C Multiple submitters myotonia congenita, autosomal dominant
• c.2404-9G>A Multiple submitters myotonia congenita, autosomal recessive
• c.2508+5G>A Multiple submitters myotonia congenita, autosomal recessive
• c.2596-11C>G Multiple submitters myotonia congenita, autosomal recessive
• c.301+6G>A Multiple submitters myotonia congenita, autosomal dominant
• c.-59C>A Multiple submitters myotonia congenita, autosomal recessive
• p.Ala140Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ala151Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala151Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala176Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ala218Thr Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ala221Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala272Val Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ala331Gly Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ala543Ile Multiple submitters myotonia congenita, autosomal recessive
• p.Ala659Val Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ala700Glu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ala804Val Multiple submitters Inborn genetic diseases ⚠
• p.Arg199Pro Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Arg300Trp Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Arg370Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg370His Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Arg377Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg453Trp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Arg47Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg53Cys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Arg5Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg611Cys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Arg672Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg72Thr Multiple submitters Batten-Turner congenital myopathy ⚠
• p.Arg888Gln Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Arg888Trp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Arg894Gln Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Arg976Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Asn455Tyr Multiple submitters ⚠
• p.Asn745Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp101Asn Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp136Ala Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp514Asn Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Asp514Gly Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp641Gly Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Asp644Gly Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp687His Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Asp822His Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp94Val Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Asp982Ala Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gln13Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gln185Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln185Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gln43Pro Multiple submitters Inborn genetic diseases ⚠
• p.Gln445Arg Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gln675Pro Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gln763Lys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Glu232= Multiple submitters myotonia congenita, autosomal dominant
• p.Glu232Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Glu676Gln Multiple submitters Inborn genetic diseases ⚠
• p.Glu683Gln Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Glu950Lys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Glu958Ter Multiple submitters myotonia congenita, autosomal dominant
• p.Glu980Lys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Glu981Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gly188Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gly222Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly270Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gly284= Multiple submitters myotonia congenita, autosomal dominant
• p.Gly34Arg Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly375Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gly483Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gly483Ser Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly594Val Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly623Arg Multiple submitters Batten-Turner congenital myopathy ⚠
• p.Gly650Ser Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly696Glu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly703Ala Multiple submitters Inborn genetic diseases ⚠
• p.Gly845Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly845Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Gly855Glu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Gly920Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly961Glu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.His65Arg Multiple submitters Inborn genetic diseases ⚠
• p.Ile119Val Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ile172Phe Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile182Met Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile182Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile227Asn Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile354Val Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile424Val Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ile450Phe Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile821Leu Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ile821Thr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Leu171Phe Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Leu173Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu577Arg Multiple submitters ⚠
• p.Leu625_Leu628delinsVal Multiple submitters myotonia congenita, autosomal recessive
• p.Leu628Pro Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Leu671Arg Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Leu684Gly Multiple submitters myotonia congenita, autosomal recessive
• p.Leu840Arg Multiple submitters Inborn genetic diseases ⚠
• p.Leu844Pro Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Lys147Gln Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Lys324Asn Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Lys635Glu Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Lys875Glu Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Met339Thr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Met414Thr Multiple submitters Inborn genetic diseases ⚠
• p.Met466Leu Multiple submitters Batten-Turner congenital myopathy ⚠
• p.Met646Val Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Met797Thr Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Phe178Leu Multiple submitters Inborn genetic diseases ⚠
• p.Phe212Ser Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Pro260Leu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Pro575Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Pro741Ala Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Pro755Leu Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Pro813Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro813Thr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Pro883Thr Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Pro930His Multiple submitters ⚠
• p.Pro932Leu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Pro934Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Pro939Ala Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ser139Asn Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ser142Asn Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser175Gly Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser183Pro Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ser18Ile Multiple submitters Inborn genetic diseases ⚠
• p.Ser294Phe Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ser383Gly Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser403Leu Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Ser576Cys Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser576Phe Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser707Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ser70Leu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser790Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ser824Tyr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser886Thr Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Ser933Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Ser97Pro Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Thr166Ser Multiple submitters Inborn genetic diseases ⚠
• p.Thr328Ile Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Thr335Ala Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Thr636Asn Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Thr735Ala Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Thr874Ser Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Thr890Met Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Thr929Ile Multiple submitters Inborn genetic diseases ⚠
• p.Trp133Cys Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Trp148Arg Multiple submitters Inborn genetic diseases ⚠
• p.Tyr206His Multiple submitters Inborn genetic diseases ⚠
• p.Tyr517Phe Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val122Met Multiple submitters Inborn genetic diseases ⚠
• p.Val138= Multiple submitters myotonia congenita, autosomal recessive
• p.Val187Ile Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val201Ile Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val213Met Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val216Ala Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val275Ile Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val364Ile Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val366Leu Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val397Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val397Asp Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val448Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val448Met Multiple submitters Inborn genetic diseases ⚠
• p.Val456Ile Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val465Ile Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val487Met Multiple submitters myotonia congenita, autosomal dominant ⚠
• p.Val544Met Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val56Ile Multiple submitters myotonia congenita, autosomal recessive ⚠
• p.Val860Ile Multiple submitters myotonia congenita, autosomal recessive ⚠
• c.1064+6del Single submitter myotonia congenita, autosomal dominant
• c.1065-12T>C Single submitter myotonia congenita, autosomal recessive
• c.1167-3C>T Single submitter
• c.1167-9C>A Single submitter myotonia congenita, autosomal dominant
• c.1251+23T>A Single submitter myotonia congenita, autosomal recessive
• c.1251+5G>A Single submitter myotonia congenita, autosomal recessive
• c.1471+5_1471+11del Single submitter
• c.1796+4A>T Single submitter myotonia congenita, autosomal recessive
• c.180+4A>G Single submitter myotonia congenita, autosomal recessive
• c.180+766T>C Single submitter
• c.1930+3C>G Single submitter
• c.1930+6T>G Single submitter myotonia congenita, autosomal dominant
• c.2172+6C>G Single submitter myotonia congenita, autosomal recessive
• c.2173-3C>G Single submitter myotonia congenita, autosomal dominant
• c.2173-5T>G Single submitter myotonia congenita, autosomal dominant
• c.2284+6G>A Single submitter myotonia congenita, autosomal recessive
• c.2403+3G>A Single submitter myotonia congenita, autosomal recessive
• c.2403+4A>G Single submitter myotonia congenita, autosomal dominant
• c.2595+10A>G Single submitter myotonia congenita, autosomal recessive
• c.433+4G>C Single submitter myotonia congenita, autosomal recessive
• c.433+4G>T Single submitter myotonia congenita, autosomal recessive
• c.562+6A>C Single submitter Batten-Turner congenital myopathy
• c.563-13T>G Single submitter Batten-Turner congenital myopathy
• c.696+5G>A Single submitter myotonia congenita, autosomal dominant
• c.696+6C>T Single submitter
• c.697-215C>T Single submitter
• c.775-3T>C Single submitter myotonia congenita, autosomal dominant
• c.775-6_775-5delinsAG Single submitter myotonia congenita, autosomal dominant
• c.853+2913C>T Single submitter
• c.853+5G>A Single submitter
• c.854-1010T>C Single submitter
• c.854-3C>A Single submitter myotonia congenita, autosomal recessive
• c.979+5C>T Single submitter myotonia congenita, autosomal dominant
• c.980-12T>C Single submitter myotonia congenita, autosomal recessive
• p.713ED[4] Single submitter myotonia congenita, autosomal dominant
• p.Ala145Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala211Gly Single submitter ⚠
• p.Ala211Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala221Glu Single submitter ⚠
• p.Ala221Thr Single submitter ⚠
• p.Ala239Pro Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala239Thr Single submitter Inborn genetic diseases ⚠
• p.Ala244Ser Single submitter ⚠
• p.Ala244Val Single submitter Inborn genetic diseases ⚠
• p.Ala272Asn Single submitter myotonia congenita, autosomal dominant
• p.Ala272Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala308Pro Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala308Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala331Leu Single submitter myotonia congenita, autosomal dominant
• p.Ala415Thr Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala492Thr Single submitter ⚠
• p.Ala50Gly Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala50Thr Single submitter Inborn genetic diseases ⚠
• p.Ala525= Single submitter myotonia congenita, autosomal recessive
• p.Ala529Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala530Thr Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala531Thr Single submitter ⚠
• p.Ala535Val Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala543Val Single submitter Skeletal muscle channelopathy ⚠
• p.Ala562Val Single submitter ⚠
• p.Ala618Gly Single submitter ⚠
• p.Ala674Asp Single submitter ⚠
• p.Ala693Thr Single submitter Inborn genetic diseases ⚠
• p.Ala761Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Ala885Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala899Thr Single submitter myotonia congenita, autosomal dominant ⚠
• p.Ala916Thr Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg199Cys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg199His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg199Leu Single submitter ⚠
• p.Arg304Lys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg338Leu Single submitter ⚠
• p.Arg377Gln Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg390Cys Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg390His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg390Leu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg421Pro Single submitter ⚠
• p.Arg45Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg53His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg53Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg626Gln Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg654Gln Single submitter Inborn genetic diseases ⚠
• p.Arg654Leu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg654Trp Single submitter Inborn genetic diseases ⚠
• p.Arg663His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg669Cys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg669Gly Single submitter Inborn genetic diseases ⚠
• p.Arg72Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg780Leu Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg881Cys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg9Cys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Arg9Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Arg9Ser Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asn301His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asn336Asp Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asn336Ser Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asn39Lys Single submitter Inborn genetic diseases ⚠
• p.Asn430Asp Single submitter Inborn genetic diseases ⚠
• p.Asn55His Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asn567Ile Single submitter ⚠
• p.Asn745Ile Single submitter Inborn genetic diseases ⚠
• p.Asn908Lys Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asp136Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asp136Tyr Single submitter ⚠
• p.Asp19Glu Single submitter Batten-Turner congenital myopathy ⚠
• p.Asp19Gly Single submitter Inborn genetic diseases ⚠
• p.Asp344Gly Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp429Gly Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp592Asn Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp644Asn Single submitter ⚠
• p.Asp687Asn Single submitter Inborn genetic diseases ⚠
• p.Asp687Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp75Val Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp792Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp822Asn Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asp89Gly Single submitter myotonia congenita, autosomal dominant ⚠
• p.Asp968His Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp979Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Asp982Asn Single submitter myotonia congenita, autosomal dominant ⚠
• p.Cys271Ser Single submitter myotonia congenita, autosomal recessive ⚠
• p.Cys815Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gln100Arg Single submitter myotonia congenita, autosomal dominant ⚠
• p.Gln144= Single submitter myotonia congenita, autosomal recessive
• p.Gln144Arg Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gln144Glu Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gln144Pro Single submitter myotonia congenita, autosomal recessive ⚠
• p.Gln154His Single submitter myotonia congenita, autosomal dominant ⚠