GSS — 459 ClinVar variants
All ClinVar germline GSS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →
19 Pathogenic · 16 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 22 Conflicting · 14 Benign · 4 Benign/Likely benign · 218 Likely benign · 146 Uncertain significance
Full GSS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 137
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.
-
GSS p.Arg164Gln
Pathogenic
Multiple submitters
glutathione synthetase deficiency with 5-oxoprolinuria
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GSS p.Ala134Thr
Conflicting
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Ala352Thr
Conflicting
Single submitter
inherited glutathione synthetase deficiency
- GSS p.Arg132His Conflicting Single submitter
-
GSS p.Arg236Gln
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Arg418Gln
Conflicting
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Gln211Glu
Conflicting
Single submitter
glutathione synthetase deficiency without 5-oxoprolinuria
-
GSS p.Gly200Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GSS p.Gly376Arg
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Leu188Pro
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Pro325Ser
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Val119Met
Conflicting
Single submitter
inherited glutathione synthetase deficiency
Predictors lean, ClinVar uncertain 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GSS p.Arg102His
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Arg25Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GSS p.Asp469Glu Uncertain significance Multiple submitters
-
GSS p.Gln278Arg
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Glu281Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Gly427Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Ile209Thr
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Ile396Val
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Leu52Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Lys213Thr
Uncertain significance
Multiple submitters
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Lys306Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Met319Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Ser276Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Thr304Ile
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Thr51Met
Uncertain significance
Multiple submitters
glutathione synthetase deficiency without 5-oxoprolinuria
- GSS p.Tyr199Cys Uncertain significance Multiple submitters
-
GSS p.Val110Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Val440Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Val44Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Ala139Thr
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
- GSS p.Ala161Asp Uncertain significance Single submitter
- GSS p.Ala26Thr Uncertain significance Single submitter
- GSS p.Ala291Thr Uncertain significance Single submitter
-
GSS p.Ala292Thr
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Ala2Thr
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Ala329Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Ala333Thr Uncertain significance Single submitter
-
GSS p.Ala357Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Ala457Thr Uncertain significance Single submitter
-
GSS p.Ala60Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Ala83Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Arg158Gln Uncertain significance Single submitter
- GSS p.Arg252Gln Uncertain significance Single submitter
-
GSS p.Arg25Gly
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
- GSS p.Arg267Gln Uncertain significance Single submitter
- GSS p.Arg273Cys Uncertain significance Single submitter
- GSS p.Arg273His Uncertain significance Single submitter
- GSS p.Asn231His Uncertain significance Single submitter
-
GSS p.Asn373Ser
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Asn82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Asp458Gly Uncertain significance Single submitter
-
GSS p.Gln10Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Gln21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Gln385Arg Uncertain significance Single submitter
- GSS p.Glu377Lys Uncertain significance Single submitter
- GSS p.Gly177Val Uncertain significance Single submitter
-
GSS p.Gly315Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Gly370Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Gly414Asp Uncertain significance Single submitter
-
GSS p.Gly460Val
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.His165Arg
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
- GSS p.His447Arg Uncertain significance Single submitter
-
GSS p.His456Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Ile106Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Ile396Met
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Ile454Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Leu18Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Leu248Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Leu52Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Leu56Pro Uncertain significance Single submitter
-
GSS p.Leu8Phe
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Lys178Glu
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Lys186Gln
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Lys186Glu
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Lys364Gln
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
- GSS p.Lys387Gln Uncertain significance Single submitter
-
GSS p.Lys437Asn
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
- GSS p.Met129Val Uncertain significance Single submitter
- GSS p.Met271Leu Uncertain significance Single submitter
-
GSS p.Met271Val
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Met379Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Met70Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Phe104Ser Uncertain significance Single submitter
- GSS p.Pro202Leu Uncertain significance Single submitter
- GSS p.Pro272Leu Uncertain significance Single submitter
- GSS p.Pro358Arg Uncertain significance Single submitter
-
GSS p.Pro413Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Pro416Leu
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Pro416Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Pro473Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Pro54Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Pro58Leu
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Ser185Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Ser201Leu
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
- GSS p.Ser289Leu Uncertain significance Single submitter
- GSS p.Ser42Leu Uncertain significance Single submitter
-
GSS p.Thr40Asn
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Thr438Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Trp5Leu
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Tyr128Cys
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
- GSS p.Tyr66Asn Uncertain significance Single submitter
- GSS p.Val110Ala Uncertain significance Single submitter
-
GSS p.Val263Met
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
- GSS p.Val362Met Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
GSS p.Ala150Thr
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Arg132Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Arg158Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Arg215Ser
Uncertain significance
Multiple submitters
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Arg237Gln
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Arg332Cys
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Arg360Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Arg412Trp
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Asn183Ile
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
-
GSS p.Gly136Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GSS p.Val445Met
Uncertain significance
Multiple submitters
inherited glutathione synthetase deficiency
- GSS p.Ala101Thr Uncertain significance Single submitter
- GSS p.Ala463Val Conflicting Single submitter
-
GSS p.Ala48Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Arg221Cys Uncertain significance Single submitter
-
GSS p.Arg330Cys
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Arg330His
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Gln21Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Glu197Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Glu402Gly Uncertain significance Single submitter
- GSS p.Gly154Val Uncertain significance Single submitter
-
GSS p.Leu355Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Leu374Arg
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Leu439Arg
Uncertain significance
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Phe239Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Pro314Leu
Conflicting
Single submitter
glutathione synthetase deficiency with 5-oxoprolinuria
-
GSS p.Ser91Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GSS p.Thr100Ala
Uncertain significance
Single submitter
inherited glutathione synthetase deficiency
-
GSS p.Tyr395His
Uncertain significance
Single submitter
Inborn genetic diseases
- GSS p.Tyr432Cys Uncertain significance Single submitter
-
GSS p.Val68Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All GSS variants
Pathogenic 19
- c.-9+5G>A Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg164Gln Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Ala176fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg125His Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asn183fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Cys294Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln109Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln13Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln220Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln308Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln349fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu17Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu368fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu123_Tyr128delinsHis Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu341fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro49fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser36fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Trp196Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Trp5Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
Pathogenic/Likely pathogenic 16
- c.129+1663A>G Multiple submitters GSS-related disorders
- c.130-1G>C Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala2fs Multiple submitters inherited glutathione synthetase deficiency
- p.Arg125Cys Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg164Ter Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg236Ter Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria
- p.Arg237Ter Multiple submitters inherited glutathione synthetase deficiency
- p.Arg267Trp Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg283Cys Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg418Ter Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria
- p.Asp219Ala Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria
- p.Asp219Gly Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Cys409Ter Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu43Ter Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria
- p.Ile192fs Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria
- p.Val380_Gln381del Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
Likely pathogenic 20
- c.1030-1G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-1G>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1113_1132del20 Single submitter inherited glutathione synthetase deficiency
- c.275+1G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+2T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.351+1G>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.609-2A>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-2A>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.835-2A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg236fs Single submitter GSS-related disorder
- p.Gln274Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln37fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln381fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys141Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys178fs Single submitter
- p.Met1Ile Single submitter
- p.Met398fs Single submitter inherited glutathione synthetase deficiency
- p.Phe255fs Single submitter GSS-related disorders
- p.Tyr270Cys Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Tyr472Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
Conflicting classifications of pathogenicity 22
- c.834+4G>C Single submitter inherited glutathione synthetase deficiency
- c.-16G>A Single submitter glutathione synthetase deficiency without 5-oxoprolinuria
- c.-46A>G Single submitter inherited glutathione synthetase deficiency
- c.-63G>C Single submitter inherited glutathione synthetase deficiency
- c.*20G>C Single submitter inherited glutathione synthetase deficiency
- p.Ala134Thr Single submitter inherited glutathione synthetase deficiency ⚠
- p.Ala352Thr Single submitter inherited glutathione synthetase deficiency ⚠
- p.Ala463Val Single submitter ⚠
- p.Arg132His Single submitter ⚠
- p.Arg236Gln Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Arg252Ter Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg330Cys Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Arg418Gln Single submitter inherited glutathione synthetase deficiency ⚠
- p.Gln211Glu Single submitter glutathione synthetase deficiency without 5-oxoprolinuria ⚠
- p.Gly200Ser Single submitter Inborn genetic diseases ⚠
- p.Gly376Arg Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Leu188Pro Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Pro272= Single submitter inherited glutathione synthetase deficiency
- p.Pro314Leu Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Pro325Ser Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Val119Met Single submitter inherited glutathione synthetase deficiency ⚠
- p.Val68= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
Benign 14
- c.1301+190T>C Multiple submitters
- c.1301+193C>A Multiple submitters
- c.275+26G>A Multiple submitters
- c.275+68C>T Multiple submitters
- c.768-76C>T Multiple submitters
- c.*2G>A Multiple submitters inherited glutathione synthetase deficiency
- c.1112-223_1112-221del Single submitter
- c.129+1612T>C Single submitter
- c.129+1856C>T Single submitter
- c.275+272dup Single submitter
- c.491+10del Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.492-134A>C Single submitter
- c.834+119G>A Single submitter
- c.834+224C>A Single submitter
Benign/Likely benign 4
- c.129+9del Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+20del Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+20T>G Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.*90A>G Multiple submitters inherited glutathione synthetase deficiency
Likely benign 218
- c.129+16C>T Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.1301+14G>C Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+19T>C Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+7del Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.352-15C>T Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.491+18C>G Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.609-16T>G Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-3C>T Multiple submitters inherited glutathione synthetase deficiency
- c.768-7G>A Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- c.-9+101G>C Multiple submitters
- c.*69G>T Multiple submitters inherited glutathione synthetase deficiency
- p.Ala156= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala22= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala327= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala352= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala48= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg132= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asn82= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asp241= Multiple submitters Inborn genetic diseases
- p.Glu353= Multiple submitters Inborn genetic diseases
- p.Glu63= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly154= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.His444= Multiple submitters Inborn genetic diseases
- p.Ile106= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ile143= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ile401= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ile454= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys305= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser133= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr451= Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Tyr66= Multiple submitters Inborn genetic diseases
- c.1029+10C>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1029+11A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1029+13C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1029+14C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1029+14del Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1029+4C>T Single submitter
- c.1030-10C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-118T>C Single submitter
- c.1030-12G>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-14C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-15T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-16T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1030-19G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1111+14C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1111+16T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1111+20C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1111+8G>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1112-18T>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1112-18T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1112-4G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.129+10T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.129+1542C>T Single submitter
- c.129+1688A>G Single submitter
- c.129+17T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.129+18C>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.129+19C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.129+9C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.130-12T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.130-15_130-14insTA Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.130-16C>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.130-18C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.130-8G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1301+13G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1301+14_1301+16del Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1301+15A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-11C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-14C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-15C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-16G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-16G>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-18C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.1302-3T>C Single submitter
- c.275+12T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.275+20T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.276-16C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.276-20T>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.276-7C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.351+12C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.351+20C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.351+7A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.352-19C>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.352-5C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.491+14G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.491+18C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.491+20C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.492-18C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.492-5A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.492-7C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.608+13A>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.609-18C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.609-4C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.609-6C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+11del Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+14G>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+17G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+17G>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+8A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+9A>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.689+9A>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-12C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-13C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-14C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-17T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-6T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.690-7T>C Single submitter
- c.690-8T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.767+12C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.767+8T>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-11C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-11del Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-12C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.768-16C>G Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.834+13T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.834+8T>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.835-10C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.835-19T>C Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.835-8C>T Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.-28C>A Single submitter
- c.-8-5dup Single submitter
- c.-9+10G>C Single submitter
- p.Ala204= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala262= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala350= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala463= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala67= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala84= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg102= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg221= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg253= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg330= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg332= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg360= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg412= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Arg418= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asn146= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asn203= Single submitter Inborn genetic diseases
- p.Asn4= Single submitter
- p.Asp105= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Asp458= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln14= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln349= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln37= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln435= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln69= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gln81= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu212= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu224= Single submitter Inborn genetic diseases
- p.Glu29= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu310= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu378= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Glu402= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly122= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly177= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly246= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly269= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly30= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly323= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly337= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Gly344= Single submitter Inborn genetic diseases
- p.Gly427= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.His290Arg Single submitter Inborn genetic diseases
- p.Ile179= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ile351= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ile94= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu111= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu121= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu140= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu180= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu205= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu227= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu317= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu355= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu374= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu383= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu386= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu426= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu439= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu448= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu52= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu61= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu74= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu75= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Leu86= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys245= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys293= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Lys443= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Phe120= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Phe72= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Phe85= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro160= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro314= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro365= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro413= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Pro471= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser137= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser168= Single submitter Inborn genetic diseases
- p.Ser36= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser389= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser394= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser41= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser42= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser424= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ser91= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr100= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr118= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr159= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr35= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Thr51= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val110= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val119= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val234= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val263= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val420= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val431= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val44= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val45= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Val474= Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
Uncertain significance 146
- c.689+3A>G Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria
- p.Ala150Thr Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Arg102His Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Arg132Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg158Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg215Ser Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Arg237Gln Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Arg25Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg332Cys Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Arg360Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg412Trp Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Asn183Ile Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Asp469Glu Multiple submitters ⚠
- p.Gln278Arg Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Glu281Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly136Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly427Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile209Thr Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Ile396Val Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Leu52Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys213Thr Multiple submitters glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Lys306Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met319Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser276Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser92Arg Multiple submitters Inborn genetic diseases
- p.Thr304Ile Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Thr51Met Multiple submitters glutathione synthetase deficiency without 5-oxoprolinuria ⚠
- p.Tyr199Cys Multiple submitters ⚠
- p.Tyr432fs Multiple submitters Inborn genetic diseases
- p.Val110Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val440Met Multiple submitters Inborn genetic diseases ⚠
- p.Val445Met Multiple submitters inherited glutathione synthetase deficiency ⚠
- p.Val44Leu Multiple submitters Inborn genetic diseases ⚠
- c.129+6C>A Single submitter Inborn genetic diseases
- c.1301+5G>A Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- c.351+1_351+14dup Single submitter glutathione synthetase deficiency without 5-oxoprolinuria
- c.689+8_689+25dup Single submitter
- c.-18A>G Single submitter inherited glutathione synthetase deficiency
- c.-29T>A Single submitter inherited glutathione synthetase deficiency
- c.-45G>C Single submitter inherited glutathione synthetase deficiency
- c.-80G>C Single submitter inherited glutathione synthetase deficiency
- c.-9+6T>C Single submitter
- c.*181C>T Single submitter inherited glutathione synthetase deficiency
- c.*183C>T Single submitter inherited glutathione synthetase deficiency
- c.*185C>T Single submitter inherited glutathione synthetase deficiency
- c.*31C>T Single submitter inherited glutathione synthetase deficiency
- c.*323G>A Single submitter inherited glutathione synthetase deficiency
- c.*390G>T Single submitter inherited glutathione synthetase deficiency
- c.*391A>T Single submitter inherited glutathione synthetase deficiency
- c.*68G>T Single submitter inherited glutathione synthetase deficiency
- p.Ala101Thr Single submitter ⚠
- p.Ala139Thr Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Ala161Asp Single submitter ⚠
- p.Ala22_Val23del Single submitter
- p.Ala26Thr Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala292Thr Single submitter inherited glutathione synthetase deficiency ⚠
- p.Ala2Thr Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Ala329Val Single submitter Inborn genetic diseases ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala357Thr Single submitter Inborn genetic diseases ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala48Ser Single submitter Inborn genetic diseases ⚠
- p.Ala60Val Single submitter Inborn genetic diseases ⚠
- p.Ala83Thr Single submitter Inborn genetic diseases ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg252Gln Single submitter ⚠
- p.Arg25Gly Single submitter inherited glutathione synthetase deficiency ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg330His Single submitter inherited glutathione synthetase deficiency ⚠
- p.Asn231His Single submitter ⚠
- p.Asn373Ser Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Asn82Ser Single submitter Inborn genetic diseases ⚠
- p.Asp458Gly Single submitter ⚠
- p.Gln10Arg Single submitter Inborn genetic diseases ⚠
- p.Gln21Leu Single submitter Inborn genetic diseases ⚠
- p.Gln21Pro Single submitter Inborn genetic diseases ⚠
- p.Gln385Arg Single submitter ⚠
- p.Glu197Ala Single submitter Inborn genetic diseases ⚠
- p.Glu377Lys Single submitter ⚠
- p.Glu402Gly Single submitter ⚠
- p.Gly154Val Single submitter ⚠
- p.Gly177Val Single submitter ⚠
- p.Gly315Val Single submitter Inborn genetic diseases ⚠
- p.Gly370Arg Single submitter Inborn genetic diseases ⚠
- p.Gly414Asp Single submitter ⚠
- p.Gly460Val Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.His165Arg Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.His447Arg Single submitter ⚠
- p.His456Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile106Asn Single submitter Inborn genetic diseases ⚠
- p.Ile396Met Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Ile454Val Single submitter Inborn genetic diseases ⚠
- p.Leu18Pro Single submitter Inborn genetic diseases ⚠
- p.Leu248Val Single submitter Inborn genetic diseases ⚠
- p.Leu355Phe Single submitter Inborn genetic diseases ⚠
- p.Leu374Arg Single submitter inherited glutathione synthetase deficiency ⚠
- p.Leu439Arg Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Leu52Pro Single submitter Inborn genetic diseases ⚠
- p.Leu56Pro Single submitter ⚠
- p.Leu8Phe Single submitter inherited glutathione synthetase deficiency ⚠
- p.Lys178Glu Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Lys186Gln Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Lys186Glu Single submitter inherited glutathione synthetase deficiency ⚠
- p.Lys364Gln Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Lys387Gln Single submitter ⚠
- p.Lys437Asn Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Lys437fs Single submitter glutathione synthetase deficiency with 5-oxoprolinuria
- p.Met129Val Single submitter ⚠
- p.Met271Leu Single submitter ⚠
- p.Met271Val Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Met379Ile Single submitter Inborn genetic diseases ⚠
- p.Met70Leu Single submitter Inborn genetic diseases ⚠
- p.Phe104Ser Single submitter ⚠
- p.Phe239Leu Single submitter Inborn genetic diseases ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro272Leu Single submitter ⚠
- p.Pro358Arg Single submitter ⚠
- p.Pro413Ser Single submitter Inborn genetic diseases ⚠
- p.Pro416Leu Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Pro416Thr Single submitter Inborn genetic diseases ⚠
- p.Pro473Thr Single submitter Inborn genetic diseases ⚠
- p.Pro54Ala Single submitter Inborn genetic diseases ⚠
- p.Pro58Leu Single submitter inherited glutathione synthetase deficiency ⚠
- p.Ser185Gly Single submitter Inborn genetic diseases ⚠
- p.Ser201Leu Single submitter inherited glutathione synthetase deficiency ⚠
- p.Ser289Leu Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Ser91Phe Single submitter Inborn genetic diseases ⚠
- p.Thr100Ala Single submitter inherited glutathione synthetase deficiency ⚠
- p.Thr40Asn Single submitter inherited glutathione synthetase deficiency ⚠
- p.Thr438Ala Single submitter Inborn genetic diseases ⚠
- p.Thr438fs Single submitter
- p.Trp5Leu Single submitter glutathione synthetase deficiency with 5-oxoprolinuria ⚠
- p.Tyr128Cys Single submitter inherited glutathione synthetase deficiency ⚠
- p.Tyr395His Single submitter Inborn genetic diseases ⚠
- p.Tyr432Cys Single submitter ⚠
- p.Tyr66Asn Single submitter ⚠
- p.Val110Ala Single submitter ⚠
- p.Val263Met Single submitter inherited glutathione synthetase deficiency ⚠
- p.Val362Met Single submitter ⚠
- p.Val68Ala Single submitter Inborn genetic diseases ⚠
- c.129+1703_129+1704insTATGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGGTGTGTGTGTTCGTTC No assertion criteria schizophrenia