Sugi Variant

Sugi Variant/DPAGT1

DPAGT1 — 336 ClinVar variants

All ClinVar germline DPAGT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

13 Pathogenic · 6 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 28 Conflicting · 10 Benign · 4 Benign/Likely benign · 112 Likely benign · 143 Uncertain significance

Full DPAGT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 136

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 5

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 33

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

All DPAGT1 variants

Pathogenic 13

  • p.Asn378Ile Single submitter tubular aggregate myopathy ⚠
  • p.Cys255fs Single submitter congenital myasthenic syndrome 13
  • p.Gln58Ter Single submitter congenital myasthenic syndrome 13
  • p.Leu120= Single submitter congenital myasthenic syndrome 13
  • p.Ser133Ter Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ser246Ter Single submitter congenital myasthenic syndrome 13
  • p.Ser327fs Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Thr234fs Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Tyr244Ter Single submitter congenital myasthenic syndrome 13
  • c.161+5G>A No assertion criteria DPAGT1-congenital disorder of glycosylation
  • p.Leu120Met No assertion criteria congenital myasthenic syndrome 13
  • p.Leu168Pro No assertion criteria DPAGT1-congenital disorder of glycosylation
  • p.Val264Gly No assertion criteria congenital myasthenic syndrome 13

Pathogenic/Likely pathogenic 6

  • p.Arg301His Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Met108Ile Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Met1Leu Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Met9fs Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Ser133fs Multiple submitters Inborn genetic diseases
  • p.Thr380Ile Multiple submitters congenital myasthenic syndrome 13

Likely pathogenic 20

  • c.643+1G>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.1005+1G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.282+1G>A Single submitter congenital myasthenic syndrome 13
  • c.644-1G>T Single submitter congenital myasthenic syndrome 13
  • c.728+1del Single submitter congenital myasthenic syndrome 13
  • p.Ala114Gly Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly192Arg Single submitter DPAGT1-congenital disorder of glycosylation
  • p.His375Tyr Single submitter ⚠
  • p.Leu366Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Lys153fs Single submitter
  • p.Lys153Ter Single submitter congenital myasthenic syndrome 13
  • p.Met260Thr Single submitter DPAGT1-related disorders
  • p.Phe233Ser Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val117Ile Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val248Met Single submitter congenital myasthenic syndrome 13
  • p.Ala39Glu No assertion criteria congenital disorder of glycosylation
  • p.Met1Thr No assertion criteria congenital disorder of glycosylation
  • p.Pro373Ala No assertion criteria congenital disorder of glycosylation ⚠
  • p.Tyr140Cys No assertion criteria congenital disorder of glycosylation
  • p.Tyr399Ter No assertion criteria congenital disorder of glycosylation

Conflicting classifications of pathogenicity 28

  • c.283-9C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.643+2T>C Single submitter DPAGT1-congenital disorder of glycosylation
  • c.728+9G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.729-4A>C Single submitter Inborn genetic diseases
  • c.918-4G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ala195Gly Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg121Cys Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg121His Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg156Cys Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg247Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn191= Single submitter congenital myasthenic syndrome 13
  • p.Asp407= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Cys81= Single submitter congenital myasthenic syndrome 13
  • p.Gly160Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly192Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.His346Arg Single submitter congenital myasthenic syndrome 13 ⚠
  • p.His346Asp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Ile29Phe Single submitter DPAGT1-related disorders ⚠
  • p.Leu239= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu385Arg Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Lys84Gln Single submitter Inborn genetic diseases ⚠
  • p.Phe110= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Phe32= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Phe332Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Pro30Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Tyr170Cys Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Val117= Single submitter congenital myasthenic syndrome 13
  • p.Val264Met Single submitter DPAGT1-congenital disorder of glycosylation ⚠

Benign 10

Benign/Likely benign 4

  • c.1161+16G>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.643+11T>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.918-18G>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.918-5C>T Multiple submitters DPAGT1-congenital disorder of glycosylation

Likely benign 112

  • c.283-17G>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.643+14G>C Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.644-10G>A Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.644-18_644-15del Multiple submitters congenital myasthenic syndrome 13
  • c.*427T>G Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Gln53= Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.His92= Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Leu276= Multiple submitters congenital myasthenic syndrome 13
  • p.Leu342= Multiple submitters congenital myasthenic syndrome 13
  • p.Phe90= Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Thr274= Multiple submitters congenital myasthenic syndrome 13
  • c.1005+19G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.1006-17A>T Single submitter congenital myasthenic syndrome 13
  • c.1006-6C>T Single submitter congenital myasthenic syndrome 13
  • c.1006-8C>G Single submitter DPAGT1-congenital disorder of glycosylation
  • c.1161+10G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.1161+13A>T Single submitter
  • c.1161+15C>T Single submitter congenital myasthenic syndrome 13
  • c.1161+16G>C Single submitter congenital myasthenic syndrome 13
  • c.1161+18G>A Single submitter congenital myasthenic syndrome 13
  • c.1161+9G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.1162-14A>G Single submitter congenital myasthenic syndrome 13
  • c.161+11G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.161+16C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.161+9C>T Single submitter congenital myasthenic syndrome 13
  • c.162-12G>C Single submitter congenital myasthenic syndrome 13
  • c.162-16T>C Single submitter DPAGT1-congenital disorder of glycosylation
  • c.162-20C>G Single submitter congenital myasthenic syndrome 13
  • c.162-4A>G Single submitter
  • c.282+10T>C Single submitter congenital myasthenic syndrome 13
  • c.282+20T>C Single submitter DPAGT1-congenital disorder of glycosylation
  • c.283-13G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.283-14del Single submitter DPAGT1-congenital disorder of glycosylation
  • c.283-5C>T Single submitter congenital myasthenic syndrome 13
  • c.496+17C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.497-13T>A Single submitter
  • c.497-4G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.497-4G>C Single submitter congenital myasthenic syndrome 13
  • c.497-5C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.643+13G>C Single submitter congenital myasthenic syndrome 13
  • c.643+14G>A Single submitter congenital myasthenic syndrome 13
  • c.643+16G>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.643+17G>C Single submitter DPAGT1-congenital disorder of glycosylation
  • c.644-12T>G Single submitter DPAGT1-congenital disorder of glycosylation
  • c.644-15T>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.644-190G>A Single submitter
  • c.728+28A>C Single submitter
  • c.729-10C>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.729-16C>G Single submitter congenital myasthenic syndrome 13
  • c.729-16C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.729-19A>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.729-21G>A Single submitter
  • c.917+7G>A Single submitter congenital myasthenic syndrome 13
  • c.918-15A>G Single submitter congenital myasthenic syndrome 13
  • c.918-6C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.918-7C>T Single submitter congenital myasthenic syndrome 13
  • c.918-8C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ala114= Single submitter congenital myasthenic syndrome 13
  • p.Ala132= Single submitter congenital myasthenic syndrome 13
  • p.Ala177= Single submitter
  • p.Ala263= Single submitter congenital myasthenic syndrome 13
  • p.Ala3= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ala392= Single submitter
  • p.Ala97= Single submitter congenital myasthenic syndrome 13
  • p.Arg40= Single submitter congenital myasthenic syndrome 13
  • p.Asn378= Single submitter congenital myasthenic syndrome 13
  • p.Asp116= Single submitter congenital myasthenic syndrome 13
  • p.Cys72= Single submitter congenital myasthenic syndrome 13
  • p.Gly215= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Gly353= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.His221= Single submitter congenital myasthenic syndrome 13
  • p.His270= Single submitter congenital myasthenic syndrome 13
  • p.Ile109= Single submitter congenital myasthenic syndrome 13
  • p.Ile16= Single submitter congenital myasthenic syndrome 13
  • p.Ile296= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ile388= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ile393Val Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu11= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu127= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu161= Single submitter congenital myasthenic syndrome 13
  • p.Leu187= Single submitter congenital myasthenic syndrome 13
  • p.Leu213= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu238= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu293= Single submitter congenital myasthenic syndrome 13
  • p.Leu367= Single submitter congenital myasthenic syndrome 13
  • p.Leu381= Single submitter congenital myasthenic syndrome 13
  • p.Leu386= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu401= Single submitter congenital myasthenic syndrome 13
  • p.Lys310= Single submitter congenital myasthenic syndrome 13
  • p.Phe223= Single submitter congenital myasthenic syndrome 13
  • p.Phe231= Single submitter congenital myasthenic syndrome 13
  • p.Phe95= Single submitter congenital myasthenic syndrome 13
  • p.Pro154= Single submitter congenital myasthenic syndrome 13
  • p.Pro157= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Pro245= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ser348= Single submitter congenital myasthenic syndrome 13
  • p.Ser396= Single submitter congenital myasthenic syndrome 13
  • p.Thr147= Single submitter congenital myasthenic syndrome 13
  • p.Thr148= Single submitter congenital myasthenic syndrome 13
  • p.Thr25= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Thr27= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Thr311= Single submitter congenital myasthenic syndrome 13
  • p.Thr331= Single submitter congenital myasthenic syndrome 13
  • p.Thr350= Single submitter congenital myasthenic syndrome 13
  • p.Tyr140= Single submitter congenital myasthenic syndrome 13
  • p.Tyr226= Single submitter congenital myasthenic syndrome 13
  • p.Val151= Single submitter congenital myasthenic syndrome 13
  • p.Val207= Single submitter congenital myasthenic syndrome 13
  • p.Val211= Single submitter congenital myasthenic syndrome 13
  • p.Val248= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Val250= Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Val408= Single submitter DPAGT1-congenital disorder of glycosylation

Uncertain significance 143

  • c.161+6C>T Multiple submitters DPAGT1-congenital disorder of glycosylation
  • c.*241T>C Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.Arg398Gln Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg398Ter Multiple submitters congenital myasthenic syndrome 13
  • p.Arg403Gln Multiple submitters congenital myasthenic syndrome 13 ⚠
  • p.Arg403Ter Multiple submitters DPAGT1-congenital disorder of glycosylation
  • p.His162Arg Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.His162Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Leu118Val Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu287Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu290Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu342Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu401Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Phe231Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe66Ser Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.Pro55Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr244Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val150Met Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val26Ile Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val402Ile Multiple submitters DPAGT1-congenital disorder of glycosylation ⚠
  • c.1005+5C>T Single submitter congenital myasthenic syndrome 13
  • c.1005+6A>T Single submitter congenital myasthenic syndrome 13
  • c.1161+5G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.282+19dup Single submitter DPAGT1-congenital disorder of glycosylation
  • c.283-3C>A Single submitter congenital myasthenic syndrome 13
  • c.496+3A>G Single submitter congenital myasthenic syndrome 13
  • c.728+6T>C Single submitter congenital myasthenic syndrome 13
  • c.917+6C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.918-10C>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.-152C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.-39C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.-46C>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.-76G>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*159G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*265A>G Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*369A>G Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*379G>T Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*386G>A Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*390A>G Single submitter DPAGT1-congenital disorder of glycosylation
  • c.*484T>C Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Ala24Val Single submitter Inborn genetic diseases ⚠
  • p.Ala258Asp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg156Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Arg218Trp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Arg301Cys Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Arg303His Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Arg303Leu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Asn143Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Asn209Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn209Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn285His Single submitter ⚠
  • p.Asn365Ser Single submitter ⚠
  • p.Asp220Glu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Asp407Asn Single submitter congenital myasthenic syndrome 13
  • p.Cys180Phe Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Cys72Tyr Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Cys81Phe Single submitter Inborn genetic diseases ⚠
  • p.Gln400His Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Gln86Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Glu315Gly Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Glu349Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu351Lys Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Gly100Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly112Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Gly192Val Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly237Ala Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Gly237Val Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly312Arg Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly330Asp Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly59Arg Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Gly63Arg Single submitter Inborn genetic diseases ⚠
  • p.His35Tyr Single submitter congenital myasthenic syndrome 13 ⚠
  • p.His93Asp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Ile109Val Single submitter Inborn genetic diseases ⚠
  • p.Ile190Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile388Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Ile61Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile99Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile99Thr Single submitter ⚠
  • p.Leu102Phe Single submitter ⚠
  • p.Leu111Arg Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu120Gln Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu127Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu134Val Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Leu136Ile Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Leu159Val Single submitter Inborn genetic diseases ⚠
  • p.Leu163Pro Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Leu163Val Single submitter Inborn genetic diseases ⚠
  • p.Leu165= Single submitter congenital myasthenic syndrome 13
  • p.Leu175Gln Single submitter ⚠
  • p.Leu239Phe Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu294Val Single submitter Inborn genetic diseases ⚠
  • p.Leu326Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu326Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu340Phe Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Leu367Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu381Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Leu404Phe Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Leu41Ile Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu41Val Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Leu70Phe Single submitter ⚠
  • p.Lys125Arg Single submitter ⚠
  • p.Lys153Gln Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Lys335Thr Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Met108Val Single submitter ⚠
  • p.Met138Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Met138Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Phe141Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Phe141Val Single submitter Inborn genetic diseases ⚠
  • p.Phe155Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Phe223Val Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Phe227Leu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Phe232Ser Single submitter DPAGT1-congenital disorder of glycosylation
  • p.Phe284Leu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Phe286Leu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Phe36Cys Single submitter Inborn genetic diseases ⚠
  • p.Pro135Leu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Pro154Ser Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Pro157Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Pro373Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Pro91Ser Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Ser198Thr Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Ser224Phe Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Ser317Arg Single submitter ⚠
  • p.Ser57Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser57Phe Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Ser5Trp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Thr142Ser Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Thr234Ala Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Thr253Asn Single submitter ⚠
  • p.Thr394Pro Single submitter congenital myasthenic syndrome 13
  • p.Trp2Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr172Asp Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Tyr172Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr406Cys Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val151Glu Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Val211Ala Single submitter Inborn genetic diseases ⚠
  • p.Val26Ala Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Val336Ala Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Val345Ile Single submitter congenital myasthenic syndrome 13 ⚠
  • p.Val83Ala Single submitter Inborn genetic diseases ⚠
  • p.Val96Leu Single submitter DPAGT1-congenital disorder of glycosylation ⚠
  • p.Tyr172Cys No assertion criteria congenital myasthenic syndrome 13 ⚠