Sugi Variant

Sugi Variant/ALG2

ALG2 — 354 ClinVar variants

All ClinVar germline ALG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 7 Conflicting · 9 Benign · 6 Benign/Likely benign · 121 Likely benign · 200 Uncertain significance

Full ALG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 89

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 90

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

All ALG2 variants

Pathogenic 5

  • p.Gly72_Leu75delinsSerProArg Single submitter congenital myasthenic syndrome 14
  • p.Arg251Leu No assertion criteria ALG2-congenital disorder of glycosylation ⚠
  • p.Gly72fs No assertion criteria congenital myasthenic syndrome 14
  • p.Lys131Asn No assertion criteria ALG2-congenital disorder of glycosylation
  • p.Val68Gly No assertion criteria congenital myasthenic syndrome 14

Pathogenic/Likely pathogenic 1

  • p.Gly347fs Multiple submitters ALG2-congenital disorder of glycosylation

Likely pathogenic 5

  • p.Ala119_Cys120insTer Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp73fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Glu272Ter Single submitter ALG2-congenital disorder of glycosylation
  • p.Cys59Tyr No assertion criteria ALG2-congenital disorder of glycosylation
  • p.Phe398Ser No assertion criteria congenital myasthenic syndrome 14

Conflicting classifications of pathogenicity 7

  • c.348+6G>A Single submitter ALG2-congenital disorder of glycosylation
  • p.Arg378His Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg409Gln Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg7Gln Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Cys315= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ile159Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ser352fs Single submitter Inborn genetic diseases

Benign 9

  • c.-202C>G Multiple submitters
  • p.Arg43= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Gly28= Multiple submitters congenital myasthenic syndrome 14
  • p.Ser11Pro Multiple submitters congenital myasthenic syndrome 14
  • p.Val367Ala Multiple submitters congenital myasthenic syndrome 14 ⚠
  • c.348+495A>G Single submitter
  • c.349-111A>G Single submitter
  • p.Arg130= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ile162Val Single submitter ALG2-congenital disorder of glycosylation

Benign/Likely benign 6

  • c.349-17A>G Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Asp10Glu Multiple submitters congenital myasthenic syndrome 14
  • p.Gly6Ala Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Leu254= Multiple submitters congenital myasthenic syndrome 14
  • p.Phe96= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Pro56Leu Multiple submitters congenital myasthenic syndrome 14 ⚠

Likely benign 121

  • c.348+49G>A Multiple submitters
  • p.Ala86= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Arg64= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.His53= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Ile265= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Pro221= Multiple submitters congenital myasthenic syndrome 14
  • p.Ser230= Multiple submitters congenital myasthenic syndrome 14
  • p.Ser346= Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Val101= Multiple submitters ALG2-congenital disorder of glycosylation
  • c.348+10C>A Single submitter ALG2-congenital disorder of glycosylation
  • c.348+10C>T Single submitter ALG2-congenital disorder of glycosylation
  • c.348+14G>A Single submitter ALG2-congenital disorder of glycosylation
  • c.348+18C>T Single submitter ALG2-congenital disorder of glycosylation
  • c.348+20G>A Single submitter congenital myasthenic syndrome 14
  • c.348+20G>C Single submitter ALG2-congenital disorder of glycosylation
  • c.348+272dup Single submitter
  • c.348+7C>T Single submitter ALG2-congenital disorder of glycosylation
  • c.348+8G>C Single submitter ALG2-congenital disorder of glycosylation
  • c.349-4C>G Single submitter ALG2-congenital disorder of glycosylation
  • c.-11G>C Single submitter
  • c.-36C>A Single submitter
  • c.-39C>G Single submitter
  • p.Ala105= Single submitter congenital myasthenic syndrome 14
  • p.Ala157= Single submitter
  • p.Ala2= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ala243= Single submitter congenital myasthenic syndrome 14
  • p.Ala36= Single submitter congenital myasthenic syndrome 14
  • p.Ala372= Single submitter congenital myasthenic syndrome 14
  • p.Ala39= Single submitter congenital myasthenic syndrome 14
  • p.Ala61= Single submitter congenital myasthenic syndrome 14
  • p.Ala71= Single submitter ALG2-congenital disorder of glycosylation
  • p.Arg125= Single submitter congenital myasthenic syndrome 14
  • p.Arg233= Single submitter ALG2-congenital disorder of glycosylation
  • p.Arg261= Single submitter congenital myasthenic syndrome 14
  • p.Arg31= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asn239= Single submitter congenital myasthenic syndrome 14
  • p.Asp110= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp209= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp23= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp258= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp271= Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp354= Single submitter ALG2-congenital disorder of glycosylation
  • p.Cys339= Single submitter ALG2-congenital disorder of glycosylation
  • p.Cys362= Single submitter ALG2-congenital disorder of glycosylation
  • p.Cys45= Single submitter congenital myasthenic syndrome 14
  • p.Gln406= Single submitter ALG2-congenital disorder of glycosylation
  • p.Glu108= Single submitter congenital myasthenic syndrome 14
  • p.Glu4= Single submitter ALG2-congenital disorder of glycosylation
  • p.Glu62= Single submitter
  • p.Glu65= Single submitter ALG2-congenital disorder of glycosylation
  • p.Gly25= Single submitter congenital myasthenic syndrome 14
  • p.Gly27= Single submitter ALG2-congenital disorder of glycosylation
  • p.Gly328= Single submitter ALG2-congenital disorder of glycosylation
  • p.Gly57= Single submitter
  • p.Gly6= Single submitter congenital myasthenic syndrome 14
  • p.Gly72= Single submitter congenital myasthenic syndrome 14
  • p.Gly82= Single submitter congenital myasthenic syndrome 14
  • p.Gly85= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ile49= Single submitter congenital myasthenic syndrome 14
  • p.Leu102= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu134= Single submitter congenital myasthenic syndrome 14
  • p.Leu142= Single submitter congenital myasthenic syndrome 14
  • p.Leu151= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu154= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu191= Single submitter congenital myasthenic syndrome 14
  • p.Leu20= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu219= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu227= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu229= Single submitter congenital myasthenic syndrome 14
  • p.Leu24= Single submitter congenital myasthenic syndrome 14
  • p.Leu312= Single submitter congenital myasthenic syndrome 14
  • p.Leu319= Single submitter congenital myasthenic syndrome 14
  • p.Leu32= Single submitter congenital myasthenic syndrome 14
  • p.Leu40= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu66= Single submitter ALG2-congenital disorder of glycosylation
  • p.Leu99= Single submitter congenital myasthenic syndrome 14
  • p.Lys14= Single submitter congenital myasthenic syndrome 14
  • p.Lys222= Single submitter congenital myasthenic syndrome 14
  • p.Lys225= Single submitter congenital myasthenic syndrome 14
  • p.Lys237= Single submitter ALG2-congenital disorder of glycosylation
  • p.Lys306= Single submitter ALG2-congenital disorder of glycosylation
  • p.Lys395= Single submitter ALG2-congenital disorder of glycosylation
  • p.Lys397= Single submitter ALG2-congenital disorder of glycosylation
  • p.Lys48= Single submitter congenital myasthenic syndrome 14
  • p.Phe103= Single submitter ALG2-congenital disorder of glycosylation
  • p.Phe109= Single submitter ALG2-congenital disorder of glycosylation
  • p.Phe19= Single submitter ALG2-congenital disorder of glycosylation
  • p.Phe327= Single submitter congenital myasthenic syndrome 14
  • p.Phe369= Single submitter ALG2-congenital disorder of glycosylation
  • p.Pro13= Single submitter congenital myasthenic syndrome 14
  • p.Pro201= Single submitter
  • p.Pro340= Single submitter congenital myasthenic syndrome 14
  • p.Pro349= Single submitter congenital myasthenic syndrome 14
  • p.Pro366= Single submitter congenital myasthenic syndrome 14
  • p.Pro400= Single submitter ALG2-congenital disorder of glycosylation
  • p.Pro56= Single submitter ALG2-congenital disorder of glycosylation
  • p.Pro76= Single submitter congenital myasthenic syndrome 14
  • p.Ser11= Single submitter congenital myasthenic syndrome 14
  • p.Ser16= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser291= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser352= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser356= Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser370= Single submitter congenital myasthenic syndrome 14
  • p.Thr298= Single submitter ALG2-congenital disorder of glycosylation
  • p.Thr316= Single submitter ALG2-congenital disorder of glycosylation
  • p.Tyr165= Single submitter ALG2-congenital disorder of glycosylation
  • p.Tyr234= Single submitter congenital myasthenic syndrome 14
  • p.Tyr320= Single submitter
  • p.Tyr410= Single submitter congenital myasthenic syndrome 14
  • p.Val113= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val117= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val220= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val266= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val266Met Single submitter Inborn genetic diseases
  • p.Val33= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val367= Single submitter ALG2-congenital disorder of glycosylation
  • p.Val416= Single submitter congenital myasthenic syndrome 14
  • p.Val88= Single submitter congenital myasthenic syndrome 14
  • c.-8C>T No assertion criteria ALG2-related disorder
  • p.Asp55= No assertion criteria ALG2-related disorder
  • p.Thr385= No assertion criteria ALG2-related disorder

Uncertain significance 200

  • c.348+568G>A Multiple submitters
  • p.Ala29Pro Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Ala36Val Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Ala71Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala71Val Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Arg129Gln Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Arg130Gln Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Arg251His Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Arg378Cys Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Arg393Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg7Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn324Ser Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Asp148Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp197Gly Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Asp365Glu Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Cys120Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln338His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln406His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu107Lys Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Glu235Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu245Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu272Lys Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Gly168Ser Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Gly6Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly72Val Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Gly78Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile133Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu312Phe Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Met1Val Multiple submitters ALG2-congenital disorder of glycosylation
  • p.Met386Val Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Phe150Ser Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Phe60Cys Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Pro158Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro15Gln Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Ser207Gly Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Ser310Tyr Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Ser323Ile Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Ser346Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr206Ile Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Val26Met Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Val33Met Multiple submitters congenital myasthenic syndrome 14 ⚠
  • p.Val68Met Multiple submitters ALG2-congenital disorder of glycosylation ⚠
  • p.Ala105Gly Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ala105Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ala372Val Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Ala384Thr Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Ala389Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala392Thr Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ala42Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala61Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ala87dup Single submitter ALG2-congenital disorder of glycosylation
  • p.Ala90Ser Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ala98Thr Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg128Gly Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg129Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg130del Single submitter congenital myasthenic syndrome 14
  • p.Arg130Trp Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg251Cys Single submitter ALG2-congenital disorder of glycosylation
  • p.Arg253Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg301Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg31Pro Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Arg64Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg9Pro Single submitter Inborn genetic diseases ⚠
  • p.Asp10_Ser11delinsAla Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp106Asn Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Asp10Asn Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Asp110His Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Asp115Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp148fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Asp23Tyr Single submitter ⚠
  • p.Asp305Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp73Glu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Asp73His Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Asp73Tyr Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Cys172Ter Single submitter ALG2-congenital disorder of glycosylation
  • p.Cys317_Leu319delinsAlaProSer Single submitter
  • p.Cys317Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Cys339Ser Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Cys362Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys45fs Single submitter congenital myasthenic syndrome 14
  • p.Gln116Arg Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Gln116Glu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gln249Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gln290Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln5Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln5His Single submitter Inborn genetic diseases ⚠
  • p.Glu107Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu163Asp Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Glu164Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu30fs Single submitter congenital myasthenic syndrome 14
  • p.Glu325Gly Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Glu351Gln Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Glu4Lys Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Glu62Gly Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Gly25Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly328Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly6Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gly72Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gly78Asp Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gly80Asp Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Gly83Asp Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Gly85_Ala86insGlyArgGly Single submitter congenital myasthenic syndrome 14
  • p.Gly85dup Single submitter ALG2-congenital disorder of glycosylation
  • p.His193Arg Single submitter congenital myasthenic syndrome 14 ⚠
  • p.His263Arg Single submitter Inborn genetic diseases ⚠
  • p.His280Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.His355Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.His58Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile121Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ile162Met Single submitter Inborn genetic diseases ⚠
  • p.Ile173Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ile231Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ile265Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ile342Thr Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Ile377Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile49Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ile49Val Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Leu144Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu151Pro Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Leu191Pro Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Leu199Val Single submitter Inborn genetic diseases ⚠
  • p.Leu227Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu227Val Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Leu228Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu229His Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu254Ser Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu254Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu275Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu293Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu312His Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu38Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu407Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu79Pro Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu79Val Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Leu99Pro Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Lys308fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Lys413Asn Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Met169Ile Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Met1Ile Single submitter ALG2-congenital disorder of glycosylation
  • p.Met335Ile Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Met386fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Met94Ile Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Phe103fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Phe184Leu Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Phe226Ile Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Phe226Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Phe360Leu Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Phe60Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Phe60Tyr Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Pro13Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro158Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Pro213_Glu214insTer Single submitter ALG2-congenital disorder of glycosylation
  • p.Pro322Thr Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Pro331Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro349Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser11fs Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser11Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ser149Tyr Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Ser210Ter Single submitter congenital myasthenic syndrome 14
  • p.Ser314Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser352delinsLeuThr Single submitter ALG2-congenital disorder of glycosylation
  • p.Ser356Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser356Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser381Thr Single submitter ALG2-congenital disorder of glycosylation
  • p.Thr145Ile Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Thr166Ala Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Thr187Ile Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Thr255Ile Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Thr316Met Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Thr316Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr321Lys Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Thr385Ala Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Thr412Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr412Asn Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Thr412Ile Single submitter Inborn genetic diseases ⚠
  • p.Trp50Arg Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Tyr100Cys Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Tyr200Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr200Ser Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Tyr281His Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Tyr296Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr320Cys Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Tyr410His Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Tyr410Ter Single submitter ALG2-congenital disorder of glycosylation
  • p.Tyr54Asp Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Tyr54Ter Single submitter congenital myasthenic syndrome 14
  • p.Tyr91Ser Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val111Gly Single submitter Inborn genetic diseases ⚠
  • p.Val113Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val123Ala Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val123Met Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val12Leu Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Val262Phe Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Val330Ile Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val33Leu Single submitter congenital myasthenic syndrome 14 ⚠
  • p.Val344Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val394Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val416Leu Single submitter ALG2-congenital disorder of glycosylation ⚠
  • p.Val95Ile Single submitter congenital myasthenic syndrome 14 ⚠