EPM2A — 461 ClinVar variants
All ClinVar germline EPM2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
24 Pathogenic · 13 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 22 Conflicting · 14 Benign · 9 Benign/Likely benign · 145 Likely benign · 220 Uncertain significance
Full EPM2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll EPM2A variants
Pathogenic 24
- c.301+1G>T Multiple submitters Lafora disease
- c.302-2A>G Multiple submitters Lafora disease
- p.Ala37fs Multiple submitters myoclonic epilepsy of Lafora 1
- p.Glu56Ter Multiple submitters myoclonic epilepsy of Lafora 1
- p.Lys90fs Multiple submitters Lafora disease
- p.Tyr157fs Multiple submitters progressive myoclonus epilepsy
- p.Tyr86Ter Multiple submitters Lafora disease
- c.301+2T>C Single submitter progressive myoclonus epilepsy
- c.303_476+1del Single submitter
- p.Ala254fs Single submitter progressive myoclonus epilepsy
- p.Arg108fs Single submitter myoclonic epilepsy of Lafora 1
- p.Arg312fs Single submitter progressive myoclonus epilepsy
- p.Asp82fs Single submitter Lafora disease
- p.Glu308fs Single submitter progressive myoclonus epilepsy
- p.Gly15_Ala53del Single submitter myoclonic epilepsy of Lafora 1
- p.His265fs Single submitter Inborn genetic diseases
- p.Lys87Ter Single submitter Lafora disease
- p.Ser25Ter Single submitter progressive myoclonus epilepsy
- p.Trp287Ter Single submitter progressive myoclonus epilepsy
- p.Trp32Ter Single submitter progressive myoclonus epilepsy
- p.Tyr112Ter Single submitter Lafora disease
- p.Tyr263fs Single submitter Inborn genetic diseases
- p.Tyr86Asp Single submitter progressive myoclonus epilepsy
- p.His105Arg No assertion criteria self-limited epilepsy with centrotemporal spikes
Pathogenic/Likely pathogenic 13
- c.302-1G>C Multiple submitters progressive myoclonus epilepsy
- p.Arg108Cys Multiple submitters progressive myoclonus epilepsy
- p.Arg171His Multiple submitters EPM2A-related disorders
- p.Arg241Ter Multiple submitters myoclonic epilepsy of Lafora 1
- p.Arg31_Arg41del Multiple submitters progressive myoclonus epilepsy
- p.Arg39_Leu40insTer Multiple submitters Lafora disease
- p.Gly279Cys Multiple submitters Lafora disease
- p.Gly279Ser Multiple submitters progressive myoclonus epilepsy
- p.His265Arg Multiple submitters Lafora disease
- p.Trp165Ter Multiple submitters Lafora disease
- p.Trp32Gly Multiple submitters progressive myoclonus epilepsy
- p.Trp60Ter Multiple submitters progressive myoclonus epilepsy
- p.Tyr122fs Multiple submitters progressive myoclonus epilepsy
Likely pathogenic 14
- p.Gln293Leu Multiple submitters Lafora disease
- c.301+1G>C Single submitter myoclonic epilepsy of Lafora 1
- p.Arg108Leu Single submitter Lafora disease
- p.Arg91Pro Single submitter Lafora disease
- p.Gln319fs Single submitter Lafora disease
- p.Glu100Gly Single submitter myoclonic epilepsy of Lafora 1
- p.Gly30Arg Single submitter
- p.Gly75fs Single submitter Lafora disease
- p.Lys87Glu Single submitter
- p.Phe84Leu Single submitter progressive myoclonus epilepsy
- p.Phe88Tyr Single submitter myoclonic epilepsy of Lafora 1
- p.Trp230Ter Single submitter congenital nervous system disorder
- p.Trp60fs Single submitter myoclonic epilepsy of Lafora 1
- p.Val277Gly Single submitter myoclonic epilepsy of Lafora 1
Conflicting classifications of pathogenicity 22
- c.301+4T>C Single submitter progressive myoclonus epilepsy
- c.301+5T>C Single submitter progressive myoclonus epilepsy
- c.476+5A>G Single submitter progressive myoclonus epilepsy
- p.Ala227Val Single submitter Inborn genetic diseases
- p.Ala248Val Single submitter myoclonic epilepsy of Lafora 1
- p.Ala43= Single submitter Inborn genetic diseases
- p.Ala53Thr Single submitter Inborn genetic diseases
- p.Arg207His Single submitter progressive myoclonus epilepsy
- p.Arg241Gln Single submitter myoclonic epilepsy of Lafora 1
- p.Arg272Cys Single submitter progressive myoclonus epilepsy
- p.Arg325His Single submitter progressive myoclonus epilepsy
- p.Asn163Asp Single submitter Lafora disease
- p.Asp49Asn Single submitter Inborn genetic diseases
- p.Glu100Ter Single submitter Lafora disease
- p.His253Leu Single submitter Inborn genetic diseases
- p.Ile126Val Single submitter Inborn genetic diseases
- p.Leu29Val Single submitter myoclonic epilepsy of Lafora 1
- p.Leu97Arg Single submitter myoclonic epilepsy of Lafora 1
- p.Pro301Leu Single submitter progressive myoclonus epilepsy
- p.Thr187Ile Single submitter Lafora disease
- p.Val249Leu Single submitter progressive myoclonus epilepsy
- p.Val8= Single submitter Inborn genetic diseases
Benign 14
- c.718+19C>G Multiple submitters progressive myoclonus epilepsy
- c.-114+363G>A Multiple submitters
- c.-15C>A Multiple submitters
- p.Gly134= Multiple submitters Inborn genetic diseases
- c.476+35A>T Single submitter
- c.476+92C>T Single submitter
- c.477-171C>G Single submitter
- c.719-8del Single submitter progressive myoclonus epilepsy
- c.-167C>T Single submitter
- c.-214A>G Single submitter
- c.-655G>A Single submitter
- c.*1472G>A Single submitter
- c.*1639C>T Single submitter
- c.*163T>G Single submitter
Benign/Likely benign 9
- c.719-4G>A Multiple submitters progressive myoclonus epilepsy
- p.Ala254= Multiple submitters Inborn genetic diseases
- p.Ala275= Multiple submitters progressive myoclonus epilepsy
- p.Ala46Pro Multiple submitters Inborn genetic diseases
- p.Gln55Lys Multiple submitters Inborn genetic diseases
- p.Glu131= Multiple submitters Inborn genetic diseases
- p.Gly6= Multiple submitters progressive myoclonus epilepsy
- p.Pro301= Multiple submitters Inborn genetic diseases
- p.Tyr283= Multiple submitters Inborn genetic diseases
Likely benign 145
- c.477-13A>G Multiple submitters progressive myoclonus epilepsy
- c.477-15A>G Multiple submitters progressive myoclonus epilepsy
- c.*1970T>C Multiple submitters
- p.Ala227= Multiple submitters progressive myoclonus epilepsy
- p.Ala248= Multiple submitters progressive myoclonus epilepsy
- p.Ala309= Multiple submitters Inborn genetic diseases
- p.Ala37= Multiple submitters progressive myoclonus epilepsy
- p.Arg35= Multiple submitters progressive myoclonus epilepsy
- p.Asn115= Multiple submitters Inborn genetic diseases
- p.Asn116= Multiple submitters progressive myoclonus epilepsy
- p.Asn267= Multiple submitters progressive myoclonus epilepsy
- p.Asp306= Multiple submitters progressive myoclonus epilepsy
- p.Asp49= Multiple submitters progressive myoclonus epilepsy
- p.Gly36= Multiple submitters progressive myoclonus epilepsy
- p.Gly50= Multiple submitters progressive myoclonus epilepsy
- p.His182= Multiple submitters Inborn genetic diseases
- p.Ile261= Multiple submitters Inborn genetic diseases
- p.Leu52= Multiple submitters progressive myoclonus epilepsy
- p.Leu54= Multiple submitters progressive myoclonus epilepsy
- p.Leu89= Multiple submitters progressive myoclonus epilepsy
- p.Pro34= Multiple submitters progressive myoclonus epilepsy
- p.Thr274= Multiple submitters progressive myoclonus epilepsy
- p.Val242= Multiple submitters progressive myoclonus epilepsy
- c.301+11C>G Single submitter progressive myoclonus epilepsy
- c.301+14A>G Single submitter progressive myoclonus epilepsy
- c.301+16del Single submitter progressive myoclonus epilepsy
- c.301+16G>A Single submitter progressive myoclonus epilepsy
- c.301+16G>C Single submitter progressive myoclonus epilepsy
- c.301+20G>A Single submitter progressive myoclonus epilepsy
- c.301+20G>T Single submitter
- c.301+88_301+96del Single submitter
- c.302-12T>C Single submitter progressive myoclonus epilepsy
- c.302-133T>A Single submitter
- c.302-17A>G Single submitter progressive myoclonus epilepsy
- c.302-20A>T Single submitter progressive myoclonus epilepsy
- c.302-4C>T Single submitter progressive myoclonus epilepsy
- c.302-7G>A Single submitter progressive myoclonus epilepsy
- c.476+151A>T Single submitter
- c.476+15A>G Single submitter progressive myoclonus epilepsy
- c.476+19T>G Single submitter progressive myoclonus epilepsy
- c.476+7A>G Single submitter progressive myoclonus epilepsy
- c.477-11G>T Single submitter progressive myoclonus epilepsy
- c.477-14T>C Single submitter progressive myoclonus epilepsy
- c.477-15A>T Single submitter progressive myoclonus epilepsy
- c.477-19C>T Single submitter progressive myoclonus epilepsy
- c.477-215G>A Single submitter
- c.477-6C>T Single submitter progressive myoclonus epilepsy
- c.719-15C>T Single submitter progressive myoclonus epilepsy
- c.719-301C>T Single submitter
- c.719-324T>C Single submitter
- c.719-5C>T Single submitter progressive myoclonus epilepsy
- c.719-7A>C Single submitter progressive myoclonus epilepsy
- c.719-9C>T Single submitter progressive myoclonus epilepsy
- c.-27C>T Single submitter
- c.-3G>A Single submitter
- c.-41G>A Single submitter
- c.-583C>G Single submitter
- c.*1108T>C Single submitter
- c.*1160A>T Single submitter
- c.*1688AG[1] Single submitter
- c.*172A>G Single submitter
- c.*368G>A Single submitter
- p.Ala12= Single submitter progressive myoclonus epilepsy
- p.Ala132= Single submitter
- p.Ala14= Single submitter progressive myoclonus epilepsy
- p.Ala16= Single submitter progressive myoclonus epilepsy
- p.Ala188= Single submitter progressive myoclonus epilepsy
- p.Ala298= Single submitter progressive myoclonus epilepsy
- p.Ala302= Single submitter progressive myoclonus epilepsy
- p.Ala46= Single submitter Inborn genetic diseases
- p.Ala47= Single submitter progressive myoclonus epilepsy
- p.Ala53= Single submitter progressive myoclonus epilepsy
- p.Ala53_Leu54= Single submitter progressive myoclonus epilepsy
- p.Ala67= Single submitter progressive myoclonus epilepsy
- p.Ala68= Single submitter progressive myoclonus epilepsy
- p.Arg171= Single submitter progressive myoclonus epilepsy
- p.Arg222= Single submitter progressive myoclonus epilepsy
- p.Arg290= Single submitter
- p.Arg312= Single submitter progressive myoclonus epilepsy
- p.Arg325= Single submitter progressive myoclonus epilepsy
- p.Arg39= Single submitter progressive myoclonus epilepsy
- p.Asn137= Single submitter progressive myoclonus epilepsy
- p.Asn201= Single submitter progressive myoclonus epilepsy
- p.Asp215= Single submitter progressive myoclonus epilepsy
- p.Asp82= Single submitter progressive myoclonus epilepsy
- p.Cys123= Single submitter Inborn genetic diseases
- p.Cys278= Single submitter progressive myoclonus epilepsy
- p.Gln314= Single submitter progressive myoclonus epilepsy
- p.Glu114= Single submitter progressive myoclonus epilepsy
- p.Glu138= Single submitter progressive myoclonus epilepsy
- p.Glu308= Single submitter progressive myoclonus epilepsy
- p.Glu56= Single submitter progressive myoclonus epilepsy
- p.Glu70= Single submitter progressive myoclonus epilepsy
- p.Glu92= Single submitter progressive myoclonus epilepsy
- p.Gly120= Single submitter progressive myoclonus epilepsy
- p.Gly15= Single submitter progressive myoclonus epilepsy
- p.Gly167= Single submitter progressive myoclonus epilepsy
- p.Gly259= Single submitter progressive myoclonus epilepsy
- p.Gly269= Single submitter progressive myoclonus epilepsy
- p.Gly271= Single submitter progressive myoclonus epilepsy
- p.Gly79= Single submitter progressive myoclonus epilepsy
- p.His175= Single submitter progressive myoclonus epilepsy
- p.His253= Single submitter progressive myoclonus epilepsy
- p.Ile186= Single submitter progressive myoclonus epilepsy
- p.Leu184= Single submitter progressive myoclonus epilepsy
- p.Leu20= Single submitter progressive myoclonus epilepsy
- p.Leu256= Single submitter progressive myoclonus epilepsy
- p.Leu296= Single submitter
- p.Leu40= Single submitter progressive myoclonus epilepsy
- p.Leu59= Single submitter progressive myoclonus epilepsy
- p.Leu97= Single submitter progressive myoclonus epilepsy
- p.Lys258= Single submitter progressive myoclonus epilepsy
- p.Lys291= Single submitter progressive myoclonus epilepsy
- p.Lys87= Single submitter progressive myoclonus epilepsy
- p.Lys90= Single submitter progressive myoclonus epilepsy
- p.Phe147= Single submitter progressive myoclonus epilepsy
- p.Phe192= Single submitter progressive myoclonus epilepsy
- p.Phe3= Single submitter progressive myoclonus epilepsy
- p.Phe5= Single submitter
- p.Phe84= Single submitter progressive myoclonus epilepsy
- p.Pro10= Single submitter progressive myoclonus epilepsy
- p.Pro27= Single submitter progressive myoclonus epilepsy
- p.Pro42= Single submitter progressive myoclonus epilepsy
- p.Pro57= Single submitter progressive myoclonus epilepsy
- p.Pro78= Single submitter progressive myoclonus epilepsy
- p.Ser25= Single submitter
- p.Ser327= Single submitter progressive myoclonus epilepsy
- p.Thr111= Single submitter progressive myoclonus epilepsy
- p.Thr213= Single submitter progressive myoclonus epilepsy
- p.Thr238= Single submitter progressive myoclonus epilepsy
- p.Thr83= Single submitter progressive myoclonus epilepsy
- p.Tyr146= Single submitter progressive myoclonus epilepsy
- p.Tyr263= Single submitter progressive myoclonus epilepsy
- p.Tyr86= Single submitter progressive myoclonus epilepsy
- p.Val121= Single submitter progressive myoclonus epilepsy
- p.Val13= Single submitter progressive myoclonus epilepsy
- p.Val176= Single submitter progressive myoclonus epilepsy
- p.Val22= Single submitter
- p.Val23= Single submitter progressive myoclonus epilepsy
- p.Val23= Single submitter progressive myoclonus epilepsy
- p.Val264= Single submitter progressive myoclonus epilepsy
- p.Val292= Single submitter progressive myoclonus epilepsy
- p.Val328= Single submitter progressive myoclonus epilepsy
- p.Val81= Single submitter progressive myoclonus epilepsy
- c.*1731G>A No assertion criteria EPM2A-related disorder
Uncertain significance 220
- c.301+5T>G Multiple submitters Inborn genetic diseases
- p.Ala150Val Multiple submitters progressive myoclonus epilepsy
- p.Ala254Val Multiple submitters progressive myoclonus epilepsy
- p.Ala268Thr Multiple submitters Inborn genetic diseases
- p.Ala275Val Multiple submitters progressive myoclonus epilepsy
- p.Ala46Thr Multiple submitters myoclonic epilepsy of Lafora 1
- p.Ala71Glu Multiple submitters Inborn genetic diseases
- p.Ala72Val Multiple submitters myoclonic epilepsy of Lafora 1
- p.Ala76Pro Multiple submitters progressive myoclonus epilepsy
- p.Arg108His Multiple submitters progressive myoclonus epilepsy
- p.Arg26Leu Multiple submitters Inborn genetic diseases
- p.Arg272His Multiple submitters progressive myoclonus epilepsy
- p.Arg2Cys Multiple submitters progressive myoclonus epilepsy
- p.Arg312Trp Multiple submitters progressive myoclonus epilepsy
- p.Arg91Gln Multiple submitters progressive myoclonus epilepsy
- p.Asn102Asp Multiple submitters progressive myoclonus epilepsy
- p.Asn113Ser Multiple submitters progressive myoclonus epilepsy
- p.Asn137Ser Multiple submitters Inborn genetic diseases
- p.Asn163Ser Multiple submitters Inborn genetic diseases
- p.Asp215Val Multiple submitters myoclonic epilepsy of Lafora 1
- p.Asp306Val Multiple submitters Lafora disease
- p.Gln200His Multiple submitters progressive myoclonus epilepsy
- p.Gln55Pro Multiple submitters progressive myoclonus epilepsy
- p.Glu239Val Multiple submitters Inborn genetic diseases
- p.Glu28Lys Multiple submitters progressive myoclonus epilepsy
- p.Glu307Lys Multiple submitters Inborn genetic diseases
- p.Glu65Lys Multiple submitters progressive myoclonus epilepsy
- p.Glu70Gln Multiple submitters Lafora disease
- p.Glu70Val Multiple submitters myoclonic epilepsy of Lafora 1
- p.Gly15Ser Multiple submitters progressive myoclonus epilepsy
- p.Gly259Glu Multiple submitters progressive myoclonus epilepsy
- p.Gly48Asp Multiple submitters Inborn genetic diseases
- p.Gly50Arg Multiple submitters myoclonic epilepsy of Lafora 1
- p.Gly50Glu Multiple submitters progressive myoclonus epilepsy
- p.Gly50Trp Multiple submitters Inborn genetic diseases
- p.Gly79Arg Multiple submitters Inborn genetic diseases
- p.His175Arg Multiple submitters progressive myoclonus epilepsy
- p.Ile126Thr Multiple submitters Lafora disease
- p.Ile149Thr Multiple submitters Inborn genetic diseases
- p.Ile164Val Multiple submitters Inborn genetic diseases
- p.Ile198Val Multiple submitters Inborn genetic diseases
- p.Leu166Val Multiple submitters progressive myoclonus epilepsy
- p.Leu180Pro Multiple submitters progressive myoclonus epilepsy
- p.Leu226Val Multiple submitters Inborn genetic diseases
- p.Leu29Pro Multiple submitters progressive myoclonus epilepsy
- p.Met212Val Multiple submitters progressive myoclonus epilepsy
- p.Met236Val Multiple submitters progressive myoclonus epilepsy
- p.Phe321Cys Multiple submitters progressive myoclonus epilepsy
- p.Phe5Cys Multiple submitters progressive myoclonus epilepsy
- p.Phe88Leu Multiple submitters progressive myoclonus epilepsy
- p.Pro211Leu Multiple submitters Inborn genetic diseases
- p.Pro246Ser Multiple submitters Inborn genetic diseases
- p.Pro57Leu Multiple submitters progressive myoclonus epilepsy
- p.Pro93Leu Multiple submitters progressive myoclonus epilepsy
- p.Thr133Ala Multiple submitters progressive myoclonus epilepsy
- p.Thr233Ile Multiple submitters progressive myoclonus epilepsy
- p.Tyr146His Multiple submitters Inborn genetic diseases
- p.Val118Met Multiple submitters progressive myoclonus epilepsy
- p.Val199Leu Multiple submitters progressive myoclonus epilepsy
- p.Val324Phe Multiple submitters Inborn genetic diseases
- p.Val64Met Multiple submitters Inborn genetic diseases
- p.Val81Met Multiple submitters Inborn genetic diseases
- c.301+3A>G Single submitter Inborn genetic diseases
- c.719-2A>T Single submitter progressive myoclonus epilepsy
- c.*1691G>A Single submitter cataract
- c.*1704G>A Single submitter
- p.Ala12Thr Single submitter progressive myoclonus epilepsy
- p.Ala132Ser Single submitter progressive myoclonus epilepsy
- p.Ala150Ser Single submitter Inborn genetic diseases
- p.Ala302Thr Single submitter progressive myoclonus epilepsy
- p.Ala313Thr Single submitter progressive myoclonus epilepsy
- p.Ala51Asp Single submitter
- p.Ala53Gly Single submitter progressive myoclonus epilepsy
- p.Ala68Pro Single submitter
- p.Ala71_Ala72insGluLeuAlaAlaGluGluAla Single submitter progressive myoclonus epilepsy
- p.Ala71_Glu77dup Single submitter progressive myoclonus epilepsy
- p.Ala71Val Single submitter progressive myoclonus epilepsy
- p.Ala72Thr Single submitter progressive myoclonus epilepsy
- p.Arg159Lys Single submitter Lafora disease
- p.Arg171Cys Single submitter progressive myoclonus epilepsy
- p.Arg17Gly Single submitter progressive myoclonus epilepsy
- p.Arg2_Val13del Single submitter progressive myoclonus epilepsy
- p.Arg207Cys Single submitter progressive myoclonus epilepsy
- p.Arg241Gly Single submitter progressive myoclonus epilepsy
- p.Arg272Ser Single submitter Inborn genetic diseases
- p.Arg2Ser Single submitter progressive myoclonus epilepsy
- p.Arg312Gln Single submitter progressive myoclonus epilepsy
- p.Arg31His Single submitter progressive myoclonus epilepsy
- p.Arg325Cys Single submitter progressive myoclonus epilepsy
- p.Arg41Met Single submitter
- p.Arg4His Single submitter progressive myoclonus epilepsy
- p.Arg91Trp Single submitter progressive myoclonus epilepsy
- p.Asn102Ser Single submitter progressive myoclonus epilepsy
- p.Asn116Ser Single submitter progressive myoclonus epilepsy
- p.Asn163Thr Single submitter
- p.Asn201His Single submitter Inborn genetic diseases
- p.Asn267Ser Single submitter progressive myoclonus epilepsy
- p.Asp107Gly Single submitter Inborn genetic diseases
- p.Asp235Gly Single submitter
- p.Asp49His Single submitter progressive myoclonus epilepsy
- p.Asp74Glu Single submitter progressive myoclonus epilepsy
- p.Asp82Asn Single submitter Inborn genetic diseases
- p.Cys169Arg Single submitter progressive myoclonus epilepsy
- p.Cys266Ser Single submitter progressive myoclonus epilepsy
- p.Cys329Tyr Single submitter progressive myoclonus epilepsy
- p.Gln282Arg Single submitter progressive myoclonus epilepsy
- p.Gln319His Single submitter progressive myoclonus epilepsy
- p.Gln73Glu Single submitter progressive myoclonus epilepsy
- p.Glu100Leu Single submitter progressive myoclonus epilepsy
- p.Glu183Lys Single submitter
- p.Glu19Lys Single submitter progressive myoclonus epilepsy
- p.Glu239Lys Single submitter progressive myoclonus epilepsy
- p.Glu257Gly Single submitter progressive myoclonus epilepsy
- p.Glu33_Arg41delinsGly Single submitter
- p.Glu56Gln Single submitter progressive myoclonus epilepsy
- p.Glu69Gly Single submitter progressive myoclonus epilepsy
- p.Glu92Gly Single submitter progressive myoclonus epilepsy
- p.Gly101Ser Single submitter Lafora disease
- p.Gly127Arg Single submitter
- p.Gly151Asp Single submitter progressive myoclonus epilepsy
- p.Gly15Arg Single submitter Inborn genetic diseases
- p.Gly15Asp Single submitter
- p.Gly167Arg Single submitter Lafora disease
- p.Gly167Asp Single submitter Inborn genetic diseases
- p.Gly185Arg Single submitter
- p.Gly240Ser Single submitter Lafora disease
- p.Gly24Arg Single submitter progressive myoclonus epilepsy
- p.Gly24Glu Single submitter Lafora disease
- p.Gly24Trp Single submitter progressive myoclonus epilepsy
- p.Gly269Glu Single submitter Inborn genetic diseases
- p.Gly279Val Single submitter Lafora disease
- p.Gly44Asp Single submitter Inborn genetic diseases
- p.Gly44Ser Single submitter progressive myoclonus epilepsy
- p.Gly50Val Single submitter progressive myoclonus epilepsy
- p.Gly75Arg Single submitter progressive myoclonus epilepsy
- p.Gly79Asp Single submitter
- p.Gly79Cys Single submitter progressive myoclonus epilepsy
- p.Gly94Arg Single submitter Inborn genetic diseases
- p.Gly94Glu Single submitter progressive myoclonus epilepsy
- p.His128Gln Single submitter Inborn genetic diseases
- p.His156Tyr Single submitter
- p.His253Arg Single submitter progressive myoclonus epilepsy
- p.Ile126Lys Single submitter Inborn genetic diseases
- p.Ile149Met Single submitter progressive myoclonus epilepsy
- p.Leu20Gln Single submitter progressive myoclonus epilepsy
- p.Leu20Val Single submitter progressive myoclonus epilepsy
- p.Leu220Gln Single submitter Lafora disease
- p.Leu256Pro Single submitter progressive myoclonus epilepsy
- p.Leu281Phe Single submitter progressive myoclonus epilepsy
- p.Leu331Pro Single submitter
- p.Leu40Met Single submitter progressive myoclonus epilepsy
- p.Leu52Arg Single submitter progressive myoclonus epilepsy
- p.Leu54Pro Single submitter Inborn genetic diseases
- p.Leu97Val Single submitter progressive myoclonus epilepsy
- p.Lys299Thr Single submitter Inborn genetic diseases
- p.Lys87Thr Single submitter Lafora disease
- p.Met155Thr Single submitter progressive myoclonus epilepsy
- p.Met190Lys Single submitter progressive myoclonus epilepsy
- p.Met190Val Single submitter progressive myoclonus epilepsy
- p.Met212Ile Single submitter progressive myoclonus epilepsy
- p.Met217Ile Single submitter progressive myoclonus epilepsy
- p.Met236Thr Single submitter progressive myoclonus epilepsy
- p.Met244Arg Single submitter progressive myoclonus epilepsy
- p.Phe145Cys Single submitter
- p.Phe145Leu Single submitter
- p.Phe192Ser Single submitter progressive myoclonus epilepsy
- p.Phe321Ser Single submitter Lafora disease
- p.Phe88Val Single submitter Lafora disease
- p.Pro11Ser Single submitter progressive myoclonus epilepsy
- p.Pro18Gln Single submitter progressive myoclonus epilepsy
- p.Pro211Thr Single submitter progressive myoclonus epilepsy
- p.Pro214Ala Single submitter progressive myoclonus epilepsy
- p.Pro214Thr Single submitter progressive myoclonus epilepsy
- p.Pro234Gln Single submitter progressive myoclonus epilepsy
- p.Pro301Thr Single submitter progressive myoclonus epilepsy
- p.Pro34Gln Single submitter progressive myoclonus epilepsy
- p.Pro34Leu Single submitter progressive myoclonus epilepsy
- p.Pro42Leu Single submitter progressive myoclonus epilepsy
- p.Pro57Thr Single submitter progressive myoclonus epilepsy
- p.Pro78Arg Single submitter Inborn genetic diseases
- p.Ser273Cys Single submitter
- p.Ser326Phe Single submitter progressive myoclonus epilepsy
- p.Ser327Pro Single submitter progressive myoclonus epilepsy
- p.Ser330Arg Single submitter
- p.Ser330Ile Single submitter
- p.Ter332del Single submitter progressive myoclonus epilepsy
- p.Thr111Ser Single submitter progressive myoclonus epilepsy
- p.Thr136Ala Single submitter progressive myoclonus epilepsy
- p.Thr136Asn Single submitter Inborn genetic diseases
- p.Thr142Ala Single submitter progressive myoclonus epilepsy
- p.Thr142Ile Single submitter Inborn genetic diseases
- p.Thr143Ala Single submitter progressive myoclonus epilepsy
- p.Thr187Ala Single submitter Lafora disease
- p.Thr187Arg Single submitter progressive myoclonus epilepsy
- p.Thr45Pro Single submitter Inborn genetic diseases
- p.Thr83Lys Single submitter Inborn genetic diseases
- p.Thr83Met Single submitter progressive myoclonus epilepsy
- p.Trp165Cys Single submitter progressive myoclonus epilepsy
- p.Tyr112Cys Single submitter progressive myoclonus epilepsy
- p.Tyr146Phe Single submitter progressive myoclonus epilepsy
- p.Tyr263Ter Single submitter Lafora disease
- p.Tyr283Asn Single submitter
- p.Tyr283Cys Single submitter progressive myoclonus epilepsy
- p.Tyr304Cys Single submitter progressive myoclonus epilepsy
- p.Val121Leu Single submitter
- p.Val13Leu Single submitter progressive myoclonus epilepsy
- p.Val13Met Single submitter progressive myoclonus epilepsy
- p.Val22Glu Single submitter progressive myoclonus epilepsy
- p.Val22Leu Single submitter progressive myoclonus epilepsy
- p.Val23Leu Single submitter progressive myoclonus epilepsy
- p.Val249Met Single submitter Lafora disease
- p.Val262Gly Single submitter
- p.Val262Leu Single submitter Inborn genetic diseases
- p.Val262Met Single submitter progressive myoclonus epilepsy
- p.Val264Met Single submitter progressive myoclonus epilepsy
- p.Val292Leu Single submitter progressive myoclonus epilepsy
- p.Val38_Ala51dup Single submitter progressive myoclonus epilepsy
- p.Val38_Arg39delinsGly Single submitter
- p.Val8Met Single submitter progressive myoclonus epilepsy
- p.Val9Ala Single submitter Inborn genetic diseases