Sugi Variant

Sugi Variant/GLUL

GLUL — 266 ClinVar variants

All ClinVar germline GLUL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 6 Conflicting · 31 Benign · 66 Likely benign · 151 Uncertain significance

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

⚑ Evidence disagreements 66

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 46

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

Predictors split 19

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

All GLUL variants

Pathogenic 4

  • p.Leu139fs Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg324Cys No assertion criteria congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg324Ser No assertion criteria congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg341Cys No assertion criteria congenital brain dysgenesis due to glutamine synthetase deficiency

Pathogenic/Likely pathogenic 3

  • p.Met1Val Multiple submitters developmental and epileptic encephalopathy 116
  • c.-13-1G>A No assertion criteria developmental and epileptic encephalopathy 116
  • p.Met1Leu No assertion criteria developmental and epileptic encephalopathy 116

Likely pathogenic 5

  • c.-13-1G>C Single submitter developmental and epileptic encephalopathy 116
  • p.Cys359Gly Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Gln201Pro Single submitter developmental and epileptic encephalopathy 116
  • p.Met1Thr Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Trp202Arg Single submitter developmental and epileptic encephalopathy 116

Conflicting classifications of pathogenicity 6

  • c.-13-2A>G Single submitter developmental and epileptic encephalopathy 116 ⚠
  • c.-14+955C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+958G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+997A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Asn310= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu294= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency

Benign 31

  • c.166+154A>G Multiple submitters
  • c.328+187T>G Multiple submitters
  • c.328+19A>G Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.475+71A>G Multiple submitters
  • c.476-24T>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.603+45T>C Multiple submitters
  • c.-13-311G>C Multiple submitters
  • c.-14+1136G>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+892G>A Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-486T>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-718G>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1913A>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2118T>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2307C>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2631G>A Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2644G>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*342T>A Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*919A>G Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Glu275= Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Phe256= Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ser65= Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-13-275_-13-269del Single submitter
  • c.-706C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1276C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1340C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1364G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1411C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1958G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2516A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*547C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*966A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency

Likely benign 66

  • c.329-18A>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.475+9C>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.603+5G>A Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+905T>C Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*465A>G Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*922A>G Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu79= Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.166+12A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.166+13T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.166+15T>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.167-12T>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.328+14C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.328+16G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.328+7TA[3] Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.329-20T>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.475+18A>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.476-10G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.603+16A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.603+16A>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.603+8T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.604-5T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.604-8G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.604-9C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.804-21C>T Single submitter
  • c.-14+1156C>T Single submitter
  • c.-14+1168C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+850G>A Single submitter
  • c.-14+887_-14+889del Single submitter
  • c.-14+913G>C Single submitter
  • c.*1357T>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1762A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2021G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2074G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2494G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg262= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg299= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg341= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Asp122= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Cys346= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Glu136= Single submitter
  • p.Glu332= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Glu59= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Gly251= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Gly365= Single submitter
  • p.His217= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ile270= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu225= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu277= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu294Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu300= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu355= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Leu98= Single submitter
  • p.Phe232= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Phe62= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Phe85= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Pro242= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Pro290= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Pro348= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ser19= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ser350= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Thr142= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Thr364= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.167-6C>G No assertion criteria GLUL-related disorder
  • p.Arg280= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
  • p.Asn152= No assertion criteria GLUL-related disorder
  • p.Thr358= No assertion criteria GLUL-related disorder

Uncertain significance 151

  • c.*129G>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*272C>G Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*849C>T Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg181Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg286His Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg357Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg90Cys Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Asn362Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Glu332Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly172Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly365Ser Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.His226_Arg227delinsGlnCys Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ile33Thr Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Met1Ile Multiple submitters Glutamine related condition
  • p.Pro208Ala Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Pro368Ser Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Ser350Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr116Ile Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Val80Met Multiple submitters congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • c.167-3C>T Single submitter Inborn genetic diseases
  • c.603+2dup Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-119G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+1008C>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+1038C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+1135G>T Single submitter
  • c.-14+916C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+934C>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+966C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-14+998C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-33C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-529G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-53T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-564C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-56C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-680C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-745C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-778G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-80G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-816C>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.-819G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1033G>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1057A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1058G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1281G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1289A>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1442A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1596G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1646C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1676T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1692A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*169G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1772C>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1790C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1932T>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1953C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1961G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1978G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*1994G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*210T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2128C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2130T>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2172C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2203A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2232C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2304T>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2313C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2365G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2463C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2555G>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2571C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2604C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2631G>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2636C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*2691C>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*289G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*297C>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*305C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*306G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*399C>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*481G>A Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*527G>T Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*687A>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*717T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*722A>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*850T>C Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • c.*981T>G Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Ala170Ser Single submitter ⚠
  • p.Ala191Val Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Ala297fs Single submitter
  • p.Ala321Thr Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Ala354Val Single submitter Inborn genetic diseases
  • p.Arg106Gln Single submitter GLUL-related disorder
  • p.Arg106Ter Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Arg119Trp Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg227Cys Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg227His Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg280fs Single submitter
  • p.Arg286Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg298Ter Single submitter
  • p.Arg299His Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg299Leu Single submitter ⚠
  • p.Arg319His Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg341His Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg45Gln Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Arg90His Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Asn10Ser Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Asn318Ser Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Asn362Asp Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Asp122Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp34Asn Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Cys117Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys163Tyr Single submitter developmental and epileptic encephalopathy 116 ⚠
  • p.Gln282Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Glu177Gly Single submitter ⚠
  • p.Glu203Val Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Glu271Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu367Gly Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Gly164Asp Single submitter Developmental delay ⚠
  • p.Gly166Arg Single submitter ⚠
  • p.Gly172Ser Single submitter ⚠
  • p.Gly23_Gln27del Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Gly245Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly315Cys Single submitter Inborn genetic diseases ⚠
  • p.His217Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.His226Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile285Met Single submitter ⚠
  • p.Ile309Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys103Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Lys334del Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Lys372Arg Single submitter developmental and epileptic encephalopathy 116 ⚠
  • p.Met18Thr Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Met29Thr Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Phe238= Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency
  • p.Phe256Leu Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Phe89Leu Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Pro21Ser Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Pro244Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro58Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Ser278Asn Single submitter
  • p.Ser278fs Single submitter
  • p.Thr352Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr358Met Single submitter Inborn genetic diseases ⚠
  • p.Trp219Arg Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Tyr185Cys Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Tyr269Asp Single submitter ⚠
  • p.Tyr269Cys Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Tyr288Cys Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Val197Gly Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Val329Ala Single submitter congenital brain dysgenesis due to glutamine synthetase deficiency ⚠
  • p.Val329Ile Single submitter Inborn genetic diseases
  • p.Val80Gly Single submitter Inborn genetic diseases ⚠