SUN1 — 662 ClinVar variants
All ClinVar germline SUN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
17 Conflicting · 77 Benign · 6 Benign/Likely benign · 232 Likely benign · 330 Uncertain significance
Full SUN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll SUN1 variants
Conflicting classifications of pathogenicity 17
- p.Ala324Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala690Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala80Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg493Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly119Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly498Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile464Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Met641Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Met641Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe300Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe315Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr121Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr240= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr342Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr60Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Val505Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Val715Ile Single submitter Emery-Dreifuss muscular dystrophy
Benign 77
- c.1779+16G>A Multiple submitters Emery-Dreifuss muscular dystrophy
- c.451+91C>T Multiple submitters Emery-Dreifuss muscular dystrophy
- c.452-3del Multiple submitters Emery-Dreifuss muscular dystrophy
- c.78-4C>T Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg681= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asn705Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gln93Pro Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Glu476Lys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly527Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.His118Tyr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro202= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr38= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr474= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr549Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Trp246Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val122= Multiple submitters Emery-Dreifuss muscular dystrophy
- c.1053+192A>G Single submitter
- c.1054-144C>T Single submitter
- c.1054-157A>G Single submitter
- c.1263+152G>A Single submitter
- c.1263+42G>C Single submitter
- c.1264-135T>C Single submitter
- c.1264-6C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1350+15C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1350+15C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1350+187T>C Single submitter
- c.1351-67A>G Single submitter
- c.1394+104C>T Single submitter
- c.1394+205G>A Single submitter
- c.1524+190C>T Single submitter
- c.1525-178A>G Single submitter
- c.1525-17G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1525-55A>C Single submitter
- c.1779+146G>A Single submitter
- c.1780-112C>G Single submitter
- c.1780-58C>T Single submitter
- c.1864+14C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1865-171T>C Single submitter
- c.1980+118G>C Single submitter
- c.1980+11G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+14G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+160G>C Single submitter
- c.1980+82A>G Single submitter
- c.2148+13G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.2148+17G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.2148+197T>C Single submitter
- c.2148+99G>A Single submitter
- c.2149-19T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.2242-132T>A Single submitter
- c.2242-14del Single submitter Emery-Dreifuss muscular dystrophy
- c.2242-200A>G Single submitter
- c.2242-97C>T Single submitter
- c.266+144T>C Single submitter
- c.267-194G>A Single submitter
- c.267-9del Single submitter Emery-Dreifuss muscular dystrophy
- c.267-9dup Single submitter Emery-Dreifuss muscular dystrophy
- c.452-12T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.452-14del Single submitter Emery-Dreifuss muscular dystrophy
- c.452-3dup Single submitter Emery-Dreifuss muscular dystrophy
- c.452-4_452-3del Single submitter Emery-Dreifuss muscular dystrophy
- c.478+26C>G Single submitter
- c.658+121A>G Single submitter
- c.659-43T>C Single submitter
- c.757+66_757+68dup Single submitter
- c.758-9C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.911-12C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.911-15G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.911-31C>A Single submitter
- c.-74+1042A>G Single submitter
- p.Ala689= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln269= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly120Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly68Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly76Cys Single submitter Emery-Dreifuss muscular dystrophy
- p.His378Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser243= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val197Met Single submitter Emery-Dreifuss muscular dystrophy
Benign/Likely benign 6
- c.78-3T>C Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala203Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg86Pro Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu747= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro665= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro750= Multiple submitters Emery-Dreifuss muscular dystrophy
Likely benign 232
- c.451+13G>A Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala466= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala714= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala746Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg761Gln Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp398= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu442= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Lys291= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro358= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro419= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser316= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser652= Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser79Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- c.1053+13A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1053+15A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1053+17del Single submitter Emery-Dreifuss muscular dystrophy
- c.1053+7G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1053+8G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1263+12C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1263+7G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1264-14T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1350+13G>C Single submitter Emery-Dreifuss muscular dystrophy
- c.1351-11A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1351-12C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1351-12C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1394+20_1394+21del Single submitter Emery-Dreifuss muscular dystrophy
- c.1394+7_1394+9del Single submitter Emery-Dreifuss muscular dystrophy
- c.1395-14C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1395-18C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.1395-8dup Single submitter Emery-Dreifuss muscular dystrophy
- c.1525-18C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1525-4C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1525-6T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+10C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+15C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+18C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+7C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+8G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+8G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1780-12G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1780-12G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1780-19G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1780-20C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1780-8C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1864+14C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+10C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+12C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+13C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+20C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1980+20C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.1981-6C>A Single submitter Emery-Dreifuss muscular dystrophy
- c.2148+16C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.2148+20C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.2148+9C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.2149-15T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.2241+16G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.2241+19A>C Single submitter Emery-Dreifuss muscular dystrophy
- c.2241+9dup Single submitter Emery-Dreifuss muscular dystrophy
- c.2241+9T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.2242-10T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.266+10G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.266+19C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.266+20C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.267-10T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.267-14T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.267-16T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.267-17T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.267-6del Single submitter Emery-Dreifuss muscular dystrophy
- c.451+19_451+20del Single submitter Emery-Dreifuss muscular dystrophy
- c.451+7C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.452-11T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.452-13_452-12insG Single submitter Emery-Dreifuss muscular dystrophy
- c.452-13T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.452-14_452-12del Single submitter Emery-Dreifuss muscular dystrophy
- c.452-14G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.452-18G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.452-7T>A Single submitter
- c.478+15C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.478+16C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.478+9T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.479-15G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.658+20A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.659-10C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.659-1429G>A Single submitter
- c.659-15G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.659-20C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.659-3458C>T Single submitter
- c.659-9C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.757+11T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.757+20G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.757+9T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.78-15G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.78-9T>G Single submitter Emery-Dreifuss muscular dystrophy
- c.851+11G>T Single submitter Emery-Dreifuss muscular dystrophy
- c.851+17C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.851+9A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.852-5C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.852-7C>T Single submitter Emery-Dreifuss muscular dystrophy
- c.910+9A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.910+9A>T Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala175= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala176= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala177= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala179= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala241= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala244= Single submitter
- p.Ala248= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala356= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala405= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala414= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala451= Single submitter
- p.Ala504= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala577Thr Single submitter
- p.Ala585= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala587Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala59= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala595= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala670= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala709= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala73= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala746= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala80= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala87= Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg131= Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg656= Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg656His Single submitter
- p.Arg86= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn169= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn181= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn561= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn705= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn765= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp136= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp196= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp334= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp413= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp43= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp510= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp553= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp609= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp735= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp751= Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp751Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys376= Single submitter
- p.Cys63= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln143= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln368= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln417= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln484= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln525= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln653= Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu39= Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu430= Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu759= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly115= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly119= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly170= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly364= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly403= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly527= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly76Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.His106= Single submitter Emery-Dreifuss muscular dystrophy
- p.His148= Single submitter Emery-Dreifuss muscular dystrophy
- p.His360= Single submitter Emery-Dreifuss muscular dystrophy
- p.His379= Single submitter Emery-Dreifuss muscular dystrophy
- p.His565= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile230= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile558= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu295Phe Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu299= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu306= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu372= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu42= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu472= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu480= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu485= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu559= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu572= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu58= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu618= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu65= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu678= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu682= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu693= Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys291Asn Single submitter
- p.Phe424= Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe713= Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe755= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro133= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro205= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro207= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro319= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro407= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro418= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro44= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro647= Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro769= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser103= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser123= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser192= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser209= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser354= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser410= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser522= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser529= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser567= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser601= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser708= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser740= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser75= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr112= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr121= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr145= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr199= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr283= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr342= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr497= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr549= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr60= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr611= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr733= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr733Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr772= Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr91= Single submitter Emery-Dreifuss muscular dystrophy
- p.Tyr606= Single submitter Emery-Dreifuss muscular dystrophy
- p.Tyr634= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val116= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val134= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val365= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val579= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val657= Single submitter Emery-Dreifuss muscular dystrophy
- p.Val81= Single submitter Emery-Dreifuss muscular dystrophy
Uncertain significance 330
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala179Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala203Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala232Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala236Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala255Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala256Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala404Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala414Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala585Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala585Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ala714Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg141Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg194His Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg228Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg239Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg331Gln Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg331Trp Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg434His Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg50Trp Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg53Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg54Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg552Gln Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg57Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Arg761Trp Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp154Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp157Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp337Ala Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp510Glu Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp546Asn Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp67Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Asp752Asn Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Cys185Trp Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gln218Lys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gln375Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gln675His Multiple submitters
- p.Glu142Gln Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Glu719Gln Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Glu782Lys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly168Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly206Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly258Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly403Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly406Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly528Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly528Cys Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Gly621Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu245Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu321Trp Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu480Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Leu559Pro Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Lys444Glu Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Lys84Arg Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Met743Ile Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Met743Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Phe300Val Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro205Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Pro349Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser10Asn Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser275Phe Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser538Leu Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser538Pro Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser538Thr Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser55Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser652Leu Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Ser78Asn Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr112Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr129Ile Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr272Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr342Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr343Ile Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr474Pro Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Thr97Ser Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val107Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val208Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val233Leu Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val249Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val338Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val433Gly Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val502Ala Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val511Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val578Met Multiple submitters Emery-Dreifuss muscular dystrophy
- p.Val81Ile Multiple submitters Emery-Dreifuss muscular dystrophy
- c.1220_1263+16del Single submitter Emery-Dreifuss muscular dystrophy
- c.1263+4G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.1263+4G>C Single submitter Emery-Dreifuss muscular dystrophy
- c.1264-1G>C Single submitter Emery-Dreifuss muscular dystrophy
- c.1779+3GAGTCGGC[3] Single submitter Emery-Dreifuss muscular dystrophy
- c.451+4A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.659-2A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.659-2A>T Single submitter Emery-Dreifuss muscular dystrophy
- c.78-19A>G Single submitter Emery-Dreifuss muscular dystrophy
- c.851+5G>A Single submitter Emery-Dreifuss muscular dystrophy
- c.852-7C>G Single submitter Emery-Dreifuss muscular dystrophy
- c.910+2T>C Single submitter Emery-Dreifuss muscular dystrophy
- c.911-3T>C Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala175Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala176Thr Single submitter
- p.Ala177dup Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala179Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala200Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala204Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala241Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala241Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala248Gly Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala255Pro Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala324Val Single submitter
- p.Ala370Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala593Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala593Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala62Ser Single submitter
- p.Ala62Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ala689Asp Single submitter
- p.Ala87Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg109Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg130Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg130Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg130Ter Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg141His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg210Thr Single submitter
- p.Arg216Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg228His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg228Leu Single submitter
- p.Arg229Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg229Thr Single submitter
- p.Arg287Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg287Ter Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg309Trp Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg345Cys Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg345Leu Single submitter
- p.Arg384Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg396Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg434Cys Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg434Gly Single submitter
- p.Arg508Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg50Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg514Ser Single submitter
- p.Arg54His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg560Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg560Trp Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg57His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg596His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg629Cys Single submitter
- p.Arg86Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg94His Single submitter Emery-Dreifuss muscular dystrophy
- p.Arg94Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn278Ser Single submitter
- p.Asn313Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn720Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Asn85Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp32Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp553Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp67Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Asp74Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys188Tyr Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys376Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys376Tyr Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys499Tyr Single submitter Emery-Dreifuss muscular dystrophy
- p.Cys63Phe Single submitter
- p.Gln311Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln330Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln348Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln375Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln375Ter Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln399Ter Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln417Arg Single submitter
- p.Gln417Ter Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln453Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln458Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln461Pro Single submitter
- p.Gln470His Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln479Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln484His Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln506Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln526Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln532Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln653Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln675fs Single submitter Emery-Dreifuss muscular dystrophy
- p.Gln723Pro Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu193Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu37Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu432= Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu488Gln Single submitter
- p.Glu507Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu523Lys Single submitter
- p.Glu584Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu635Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu721Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Glu721Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly119Arg Single submitter
- p.Gly156Asp Single submitter
- p.Gly182Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly231Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly264Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly305Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly312Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly364Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly402Asp Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly545Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly621= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly623= Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly76Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Gly76Val Single submitter Emery-Dreifuss muscular dystrophy
- p.His106Tyr Single submitter
- p.His327Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.His379Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.His40Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.His564Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.His565Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.His768Arg Single submitter
- p.Ile166Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile226fs Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile289Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile590Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile598Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile686Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile757Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Ile757Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu198Phe Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu224Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu227Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu247Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu273Phe Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu295Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu302Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu318Val Single submitter
- p.Leu386Met Single submitter
- p.Leu472Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu489Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu533Gln Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu554Arg Single submitter
- p.Leu556Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu572Pro Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu648Val Single submitter
- p.Leu65Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu760_Arg761= Single submitter Emery-Dreifuss muscular dystrophy
- p.Leu774Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys219Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys340Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys454Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys570Arg Single submitter
- p.Lys748Glu Single submitter Emery-Dreifuss muscular dystrophy
- p.Lys99Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Met190Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Met362Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Met425Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Met516Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Met516Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Met613Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Met685Lys Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe149Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe222Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe424Cys Single submitter
- p.Phe424Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe521Val Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe644fs Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe777Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Phe777Ser Single submitter
- p.Pro133His Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro133Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro202Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro207Thr Single submitter
- p.Pro298Ser Single submitter
- p.Pro358Leu Single submitter
- p.Pro358Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro418Leu Single submitter
- p.Pro655Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Pro783His Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser103Asn Single submitter
- p.Ser123Thr Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser138Cys Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser184Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser209fs Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser209Leu Single submitter
- p.Ser238Phe Single submitter
- p.Ser243Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser316Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser371Phe Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser373Pro Single submitter
- p.Ser410Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser410Leu Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser529Ala Single submitter
- p.Ser567Cys Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser583= Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser583Gly Single submitter Emery-Dreifuss muscular dystrophy
- p.Ser627Asn Single submitter
- p.Ser707Gly Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr121Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr121Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr129Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr145Ile Single submitter
- p.Thr240Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr387Asn Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr38Met Single submitter
- p.Thr422Ser Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr474Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr474Met Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr497Ile Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr636Ala Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr638Arg Single submitter Emery-Dreifuss muscular dystrophy
- p.Thr638Lys Single submitter Emery-Dreifuss muscular dystrophy