Sugi Variant

Sugi Variant/ENO3

ENO3 — 399 ClinVar variants

All ClinVar germline ENO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 11 Conflicting · 23 Benign · 10 Benign/Likely benign · 155 Likely benign · 197 Uncertain significance

Full ENO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 119

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

Predictors split 32

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

All ENO3 variants

Pathogenic 2

  • p.Gly348fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Cys357Tyr No assertion criteria glycogen storage disease due to muscle beta-enolase deficiency

Likely pathogenic 1

  • c.1176+2T>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency

Conflicting classifications of pathogenicity 11

  • c.1235+7C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+3G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala121= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp53fs Single submitter
  • p.Gln79Ter Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly139= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly156Asp Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly185= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ile6fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Pro237fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser83= Single submitter glycogen storage disease due to muscle beta-enolase deficiency

Benign 23

Benign/Likely benign 10

  • c.1067+18C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.1176+8T>C Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.667+24dup Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.86-10C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.-88G>A Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala331= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Arg403His Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asn71Ser Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Leu276= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val85Ala Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency

Likely benign 155

  • c.1177-16C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.181+17G>C Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.182-15C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.182-16C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.182-34T>C Multiple submitters
  • c.310+13C>T Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+13A>G Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+9A>G Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu67= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ile134= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser401= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr26= Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • c.1067+16C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1067+17C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1176+10G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1176+16C>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1176+16C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1176+7G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1177-16C>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1177-7T>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1235+10G>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1235+19G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1235+8G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1236-14T>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.181+16C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.181+17G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.181+5G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.182-18A>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.182-7T>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+15C>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+16C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+18C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+20C>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+20C>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+9G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.241-11C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.241-17C>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.241-9C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+11G>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+17C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+18G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+7G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.311-15C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.311-16G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.311-17C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.311-20T>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+14C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+16C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+17G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+18C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+20C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+7G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-11C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-13C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-14T>C Single submitter
  • c.445-15C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-18A>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-18dup Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.445-40A>G Single submitter
  • c.445-71A>G Single submitter
  • c.667+11del Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.667+12G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.667+17C>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.667+19G>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.668-15T>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.668-6C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.668-7C>T Single submitter
  • c.85+14C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.85+15A>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.85+4AC[3] Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.86-12C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.86-18C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+11C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+11del Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+12G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+7C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.865+8G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.866-13C>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.866-15T>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.866-34_866-13del Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.866-4C>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.866-8C>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.-2-12C>T Single submitter
  • c.-2-9G>C Single submitter
  • c.-3+15C>G Single submitter
  • c.-3+3C>G Single submitter
  • p.Ala117= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala2= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala233= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala248= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala33= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala39= Single submitter
  • p.Ala405= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala416= Single submitter
  • p.Ala424= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala76= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Arg56= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asn151= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asn154= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asn206= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asn363= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp13= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp238= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp245= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp51= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Cys337= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu167= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu180= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu219= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu225= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu250= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu352= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Glu45= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly113= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly127= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly155= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly156= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly174= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly29= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly310= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly396= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.His190= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ile217= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ile242= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ile413= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Leu12= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Leu137= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Leu388= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Leu63= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Lys126= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Lys358= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Phe213= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Pro267= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Pro36= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser115= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser177= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser349= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser353= Single submitter
  • p.Thr100= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr205= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr229= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr305= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr323= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr395= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr41= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Tyr257= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Tyr44= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val118= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val128= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val188= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val22= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val246= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val35= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val62= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val85= Single submitter glycogen storage disease due to muscle beta-enolase deficiency

Uncertain significance 197

  • c.1067+1G>A Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala159Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala39Thr Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg183Cys Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg253His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg269Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg30Ter Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Arg32Gln Multiple submitters Inborn genetic diseases
  • p.Arg372His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg400Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg400His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg426His Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn109Ser Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn151Ser Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn254His Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn312His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp258Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp258Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys399fs Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gln4Pro Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Glu187Lys Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Glu278Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu88Ter Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gly155Arg Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly185Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly277Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly374Glu Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly52Arg Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ile242Phe Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys394Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys432Asn Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Met165Val Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser263Leu Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser282Arg Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ser349Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr26Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr26Met Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Tyr44Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr57Cys Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val128Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val22Met Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val246Ala Multiple submitters glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val311Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val84Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1068-1G>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.1068-2A>G Single submitter
  • c.1235+5A>G Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.181+6_181+8del Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.240+8G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+1G>C Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.310+3G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+1G>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.444+5G>A Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • c.85+4A>T Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ala135Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala135Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala138Pro Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala138Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala175Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala186Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala186Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala233Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala234Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala268Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala27Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala302Val Single submitter Inborn genetic diseases ⚠
  • p.Ala336Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala360Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ala8Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg132Cys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg183His Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg183Leu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg327Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg32Ter Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Arg372Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg400Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg412Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg426Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg429His Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg56Cys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Arg56His Single submitter Inborn genetic diseases
  • p.Arg56Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg9Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn151Asp Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn154His Single submitter Inborn genetic diseases ⚠
  • p.Asn161Lys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn17Asp Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn221Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn254Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn70Lys Single submitter Inborn genetic diseases
  • p.Asn70Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asn71Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn71Gly Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp203Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp238fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Asp258Asn Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asp419Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asp51Tyr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Asp53Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Cys119Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln166Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln166Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gln392= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Gln4Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu180Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu293Lys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Glu352Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu375Lys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Glu414Lys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Glu48Lys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly113Cys Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly16Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly208Ala Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly255Glu Single submitter Inborn genetic diseases
  • p.Gly317Glu Single submitter ⚠
  • p.Gly366Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly366Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly387Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly42Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly61Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Gly99Glu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.His191Gln Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.His25Asp Single submitter Inborn genetic diseases ⚠
  • p.Ile11Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile242Met Single submitter
  • p.Ile284Leu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ile313Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile313Met Single submitter Inborn genetic diseases ⚠
  • p.Ile313Val Single submitter Inborn genetic diseases ⚠
  • p.Ile393Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ile393Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Leu130Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu24Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Leu308Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu340Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu388Ile Single submitter Inborn genetic diseases
  • p.Leu58Val Single submitter Inborn genetic diseases ⚠
  • p.Lys120Asn Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys126Asn Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys193Asn Single submitter ⚠
  • p.Lys239Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys262Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Lys262Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys28Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys358Ile Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Lys394Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys406Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys420Asn Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys427Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys5Asn Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Lys80= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Met165Thr Single submitter Inborn genetic diseases ⚠
  • p.Met169Thr Single submitter Inborn genetic diseases ⚠
  • p.Met182Arg Single submitter Inborn genetic diseases ⚠
  • p.Met182Ile Single submitter Inborn genetic diseases ⚠
  • p.Met182Val Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Met1Ile Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Met3Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Met411Ile Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Met94Val Single submitter Inborn genetic diseases
  • p.Phe213Leu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Phe31Tyr Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Pro237Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Pro295Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro431Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro431Thr Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ser157Ala Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser177Pro Single submitter ⚠
  • p.Ser282Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser309= Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Ser309Leu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ser362Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser401Leu Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Ter435Arg Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr100Ser Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Thr19Met Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Thr205Ala Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Thr303Ile Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Thr305Ile Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Thr376Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr41Met Single submitter ⚠
  • p.Trp304fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Trp365fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Trp365Gly Single submitter Inborn genetic diseases ⚠
  • p.Trp365Ter Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Tyr257Ter Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Tyr407Ter Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val114Met Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val118Met Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val128Asp Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val128fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val173Gly Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val188Ala Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val246Met Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val289Ala Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠
  • p.Val311fs Single submitter glycogen storage disease due to muscle beta-enolase deficiency
  • p.Val35Met Single submitter glycogen storage disease due to muscle beta-enolase deficiency ⚠