Sugi Variant

Sugi Variant/GAMT

GAMT — 616 ClinVar variants

All ClinVar germline GAMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →

47 Pathogenic · 15 Pathogenic/Likely pathogenic · 60 Likely pathogenic · 3 Conflicting · 22 Benign · 9 Benign/Likely benign · 219 Likely benign · 241 Uncertain significance

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

⚑ Evidence disagreements 201

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 2

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

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 112

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

Predictors split 86

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

All GAMT variants

Pathogenic 47

  • c.158_181+7del Expert panel guanidinoacetate methyltransferase deficiency
  • c.328-1G>A Expert panel guanidinoacetate methyltransferase deficiency
  • c.328-2A>G Expert panel guanidinoacetate methyltransferase deficiency
  • c.391+1G>C Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala22fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala75Val Expert panel guanidinoacetate methyltransferase deficiency
  • p.Asp135Asn Expert panel guanidinoacetate methyltransferase deficiency
  • p.Asp135Tyr Expert panel guanidinoacetate methyltransferase deficiency
  • p.Cys169Arg Expert panel guanidinoacetate methyltransferase deficiency
  • p.Cys16Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gln106Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gln79Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Glu118Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly131Arg Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly13fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly164fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Leu166Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Leu197Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Leu65Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Lys109= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Thr136Met Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp144Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp174Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp20fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp20Ser Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp45Arg Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp45Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gln97fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Gln97Ter Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Ala75del Single submitter late-onset Parkinson disease
  • p.Arg203fs Single submitter cerebral creatine deficiency syndrome
  • p.Gln148fs Single submitter cerebral creatine deficiency syndrome
  • p.Gln148Ter Single submitter Inborn genetic diseases
  • p.Glu141Ter Single submitter cerebral creatine deficiency syndrome
  • p.Leu124fs Single submitter cerebral creatine deficiency syndrome
  • p.Lys109Arg Single submitter guanidinoacetate methyltransferase deficiency ⚠
  • p.Lys179fs Single submitter cerebral creatine deficiency syndrome
  • p.Met1Ile Single submitter cerebral creatine deficiency syndrome
  • p.Met1Thr Single submitter cerebral creatine deficiency syndrome
  • p.Phe157fs Single submitter cerebral creatine deficiency syndrome
  • p.Ser140fs Single submitter cerebral creatine deficiency syndrome
  • p.Thr167fs Single submitter cerebral creatine deficiency syndrome
  • p.Thr32fs Single submitter cerebral creatine deficiency syndrome
  • p.Trp102Ter Single submitter cerebral creatine deficiency syndrome
  • p.Tyr168_Thr172del Single submitter cerebral creatine deficiency syndrome
  • p.Tyr168Ter Single submitter cerebral creatine deficiency syndrome
  • p.Arg105fs No assertion criteria guanidinoacetate methyltransferase deficiency

Pathogenic/Likely pathogenic 15

  • c.182-2A>G Multiple submitters guanidinoacetate methyltransferase deficiency
  • c.392-1G>A Multiple submitters cerebral creatine deficiency syndrome
  • p.Ala103fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Asp101fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Asp119fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Asp135His Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.His108fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.His145fs Multiple submitters cerebral creatine deficiency syndrome
  • p.Ile111fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Leu159fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Ser17fs Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Trp117Ter Multiple submitters cerebral creatine deficiency syndrome
  • p.Trp20Ter Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Tyr134Ter Multiple submitters cerebral creatine deficiency syndrome
  • p.Tyr168Ser Multiple submitters

Likely pathogenic 60

  • c.327+43G>A Expert panel guanidinoacetate methyltransferase deficiency
  • c.391+15G>T Expert panel guanidinoacetate methyltransferase deficiency
  • c.391+5G>C Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala156Asp Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala54Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala74Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Arg208Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Asn92Asp Expert panel guanidinoacetate methyltransferase deficiency
  • p.Asp31fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Cys169_Ser173dup Expert panel guanidinoacetate methyltransferase deficiency
  • p.Cys169Tyr Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Gln193Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Glu176fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Glu199fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Glu90Lys Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly164Asp Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly38= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Gly68Cys Expert panel guanidinoacetate methyltransferase deficiency
  • p.His128Gln Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.His147Tyr Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Leu159Pro Expert panel guanidinoacetate methyltransferase deficiency
  • p.Lys161Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Lys39Glu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Met188Ile Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Met1Val Expert panel guanidinoacetate methyltransferase deficiency
  • p.Met50Leu Expert panel guanidinoacetate methyltransferase deficiency
  • p.Met71Arg Expert panel guanidinoacetate methyltransferase deficiency
  • p.Phe149fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ser140Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp174Arg Expert panel guanidinoacetate methyltransferase deficiency
  • p.Trp87Ter Expert panel guanidinoacetate methyltransferase deficiency
  • p.Val110Phe Expert panel guanidinoacetate methyltransferase deficiency
  • p.Val78Glu Expert panel guanidinoacetate methyltransferase deficiency
  • c.327+1G>T Multiple submitters GAMT-related disorder
  • c.392-2A>G Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Arg204fs Multiple submitters cerebral creatine deficiency syndrome
  • p.Glu176Ter Multiple submitters cerebral creatine deficiency syndrome
  • c.181+2T>C Single submitter cerebral creatine deficiency syndrome
  • c.182-1G>T Single submitter cerebral creatine deficiency syndrome
  • c.327+1G>A Single submitter guanidinoacetate methyltransferase deficiency
  • c.327+2T>G Single submitter cerebral creatine deficiency syndrome
  • c.391+2T>C Single submitter GAMT-related disorder
  • c.459+1G>A Single submitter cerebral creatine deficiency syndrome
  • p.Arg158fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Arg63fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Asn206fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Asp135Ala Single submitter cerebral creatine deficiency syndrome
  • p.Glu190fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Glu205fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Glu46Asp Single submitter
  • p.Gly62fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Ile9fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Lys39fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Met1Leu Single submitter guanidinoacetate methyltransferase deficiency
  • p.Met50fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Pro231His Single submitter guanidinoacetate methyltransferase deficiency
  • p.Pro4fs Single submitter guanidinoacetate methyltransferase deficiency
  • p.Tyr137Ter Single submitter guanidinoacetate methyltransferase deficiency
  • p.Tyr27Ter Single submitter guanidinoacetate methyltransferase deficiency
  • p.Val165fs Single submitter guanidinoacetate methyltransferase deficiency

Conflicting classifications of pathogenicity 3

  • c.570+1G>A Single submitter cerebral creatine deficiency syndrome
  • c.571-3C>G Single submitter cerebral creatine deficiency syndrome
  • p.Ala75Glu Single submitter cerebral creatine deficiency syndrome ⚠

Benign 22

Benign/Likely benign 9

  • c.182-18C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.570+165G>A Multiple submitters guanidinoacetate methyltransferase deficiency
  • c.571-6G>A Multiple submitters cerebral creatine deficiency syndrome
  • c.*146A>C Multiple submitters
  • c.*151T>C Multiple submitters
  • c.*276C>T Multiple submitters
  • c.*311C>G Multiple submitters
  • p.Ala200= Multiple submitters cerebral creatine deficiency syndrome
  • p.Pro104= Multiple submitters cerebral creatine deficiency syndrome

Likely benign 219

  • c.570+161T>A Expert panel guanidinoacetate methyltransferase deficiency
  • c.570+4C>T Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala196Val Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala224Thr Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala75= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala81Val Expert panel guanidinoacetate methyltransferase deficiency
  • p.Arg105Gln Expert panel guanidinoacetate methyltransferase deficiency
  • p.Arg63= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ile132= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Phe157Leu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr136= Expert panel guanidinoacetate methyltransferase deficiency
  • c.181+10G>C Multiple submitters cerebral creatine deficiency syndrome
  • c.181+112C>T Multiple submitters
  • c.181+16C>A Multiple submitters cerebral creatine deficiency syndrome
  • c.181+9C>G Multiple submitters cerebral creatine deficiency syndrome
  • c.391+17C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.459+17T>C Multiple submitters cerebral creatine deficiency syndrome
  • c.460-7T>G Multiple submitters cerebral creatine deficiency syndrome
  • c.460-9C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.570+133G>A Multiple submitters
  • c.570+241G>C Multiple submitters
  • c.570+60A>G Multiple submitters
  • c.571-7C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.571-9C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.*2C>G Multiple submitters
  • c.*89C>A Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Ala213= Multiple submitters cerebral creatine deficiency syndrome
  • p.Ala218= Multiple submitters Inborn genetic diseases
  • p.Cys169= Multiple submitters cerebral creatine deficiency syndrome
  • p.Glu90= Multiple submitters cerebral creatine deficiency syndrome
  • p.Gly94= Multiple submitters cerebral creatine deficiency syndrome
  • p.His128= Multiple submitters Inborn genetic diseases
  • p.His155= Multiple submitters cerebral creatine deficiency syndrome
  • p.His51= Multiple submitters cerebral creatine deficiency syndrome
  • p.His86= Multiple submitters cerebral creatine deficiency syndrome
  • p.Ile73= Multiple submitters cerebral creatine deficiency syndrome
  • p.Leu177= Multiple submitters cerebral creatine deficiency syndrome
  • p.Leu214= Multiple submitters cerebral creatine deficiency syndrome
  • p.Pro138= Multiple submitters Inborn genetic diseases
  • p.Pro195= Multiple submitters Inborn genetic diseases
  • p.Pro217= Multiple submitters cerebral creatine deficiency syndrome
  • p.Tyr134= Multiple submitters cerebral creatine deficiency syndrome
  • p.Val120= Multiple submitters cerebral creatine deficiency syndrome
  • c.181+10G>A Single submitter cerebral creatine deficiency syndrome
  • c.181+12C>T Single submitter cerebral creatine deficiency syndrome
  • c.181+13C>G Single submitter cerebral creatine deficiency syndrome
  • c.181+18T>G Single submitter cerebral creatine deficiency syndrome
  • c.181+20C>G Single submitter cerebral creatine deficiency syndrome
  • c.181+7C>T Single submitter cerebral creatine deficiency syndrome
  • c.182-10G>T Single submitter cerebral creatine deficiency syndrome
  • c.182-12G>A Single submitter cerebral creatine deficiency syndrome
  • c.182-17G>A Single submitter cerebral creatine deficiency syndrome
  • c.182-39G>A Single submitter
  • c.182-4C>T Single submitter cerebral creatine deficiency syndrome
  • c.327+11G>A Single submitter cerebral creatine deficiency syndrome
  • c.327+14C>T Single submitter cerebral creatine deficiency syndrome
  • c.327+15G>A Single submitter cerebral creatine deficiency syndrome
  • c.327+15G>C Single submitter cerebral creatine deficiency syndrome
  • c.327+15G>T Single submitter cerebral creatine deficiency syndrome
  • c.327+16C>T Single submitter
  • c.327+17A>G Single submitter cerebral creatine deficiency syndrome
  • c.327+18G>A Single submitter cerebral creatine deficiency syndrome
  • c.327+19G>A Single submitter cerebral creatine deficiency syndrome
  • c.327+19G>T Single submitter cerebral creatine deficiency syndrome
  • c.327+7C>T Single submitter cerebral creatine deficiency syndrome
  • c.327+9C>T Single submitter cerebral creatine deficiency syndrome
  • c.328-11C>T Single submitter cerebral creatine deficiency syndrome
  • c.328-15T>C Single submitter cerebral creatine deficiency syndrome
  • c.328-15T>G Single submitter cerebral creatine deficiency syndrome
  • c.328-16T>C Single submitter cerebral creatine deficiency syndrome
  • c.328-17C>A Single submitter cerebral creatine deficiency syndrome
  • c.328-19_328-18del Single submitter cerebral creatine deficiency syndrome
  • c.328-19T>C Single submitter cerebral creatine deficiency syndrome
  • c.328-23_328-20del Single submitter cerebral creatine deficiency syndrome
  • c.328-5G>A Single submitter cerebral creatine deficiency syndrome
  • c.328-5G>C Single submitter cerebral creatine deficiency syndrome
  • c.328-7C>G Single submitter cerebral creatine deficiency syndrome
  • c.328-7C>T Single submitter cerebral creatine deficiency syndrome
  • c.328-9C>T Single submitter cerebral creatine deficiency syndrome
  • c.391+160A>T Single submitter
  • c.391+18G>A Single submitter cerebral creatine deficiency syndrome
  • c.391+18G>C Single submitter cerebral creatine deficiency syndrome
  • c.391+20A>G Single submitter cerebral creatine deficiency syndrome
  • c.391+8G>C Single submitter cerebral creatine deficiency syndrome
  • c.391+9_391+15del Single submitter cerebral creatine deficiency syndrome
  • c.392-10C>T Single submitter cerebral creatine deficiency syndrome
  • c.392-11T>C Single submitter cerebral creatine deficiency syndrome
  • c.392-13G>A Single submitter cerebral creatine deficiency syndrome
  • c.392-13G>T Single submitter cerebral creatine deficiency syndrome
  • c.392-14T>C Single submitter cerebral creatine deficiency syndrome
  • c.392-15_392-14del Single submitter cerebral creatine deficiency syndrome
  • c.392-15C>T Single submitter cerebral creatine deficiency syndrome
  • c.392-17T>G Single submitter cerebral creatine deficiency syndrome
  • c.392-19G>A Single submitter cerebral creatine deficiency syndrome
  • c.392-19G>T Single submitter cerebral creatine deficiency syndrome
  • c.392-5T>G Single submitter cerebral creatine deficiency syndrome
  • c.392-6G>A Single submitter cerebral creatine deficiency syndrome
  • c.392-6G>C Single submitter cerebral creatine deficiency syndrome
  • c.392-9T>C Single submitter cerebral creatine deficiency syndrome
  • c.392-9T>G Single submitter cerebral creatine deficiency syndrome
  • c.459+11C>T Single submitter cerebral creatine deficiency syndrome
  • c.459+12dup Single submitter cerebral creatine deficiency syndrome
  • c.459+13G>T Single submitter cerebral creatine deficiency syndrome
  • c.459+19C>T Single submitter cerebral creatine deficiency syndrome
  • c.459+8T>C Single submitter cerebral creatine deficiency syndrome
  • c.460-12C>G Single submitter cerebral creatine deficiency syndrome
  • c.460-15A>G Single submitter cerebral creatine deficiency syndrome
  • c.460-5C>T Single submitter cerebral creatine deficiency syndrome
  • c.460-6C>T Single submitter cerebral creatine deficiency syndrome
  • c.460-9C>G Single submitter cerebral creatine deficiency syndrome
  • c.570+11C>G Single submitter cerebral creatine deficiency syndrome
  • c.570+11C>T Single submitter cerebral creatine deficiency syndrome
  • c.570+13G>C Single submitter cerebral creatine deficiency syndrome
  • c.570+153C>A Single submitter
  • c.570+17T>C Single submitter cerebral creatine deficiency syndrome
  • c.570+550C>T Single submitter
  • c.570+9A>C Single submitter cerebral creatine deficiency syndrome
  • c.571-10C>T Single submitter cerebral creatine deficiency syndrome
  • c.571-11T>A Single submitter cerebral creatine deficiency syndrome
  • c.571-12A>G Single submitter cerebral creatine deficiency syndrome
  • c.571-17G>C Single submitter
  • c.571-5A>G Single submitter cerebral creatine deficiency syndrome
  • c.571-6G>C Single submitter cerebral creatine deficiency syndrome
  • c.571-7_571-6delinsTA Single submitter cerebral creatine deficiency syndrome
  • c.571-8C>T Single submitter cerebral creatine deficiency syndrome
  • c.-23C>T Single submitter
  • c.-44C>T Single submitter
  • c.-8C>G Single submitter
  • c.*136C>A Single submitter guanidinoacetate methyltransferase deficiency
  • c.*17G>A Single submitter
  • p.Ala103= Single submitter cerebral creatine deficiency syndrome
  • p.Ala196= Single submitter cerebral creatine deficiency syndrome
  • p.Ala22= Single submitter cerebral creatine deficiency syndrome
  • p.Ala224= Single submitter cerebral creatine deficiency syndrome
  • p.Ala23= Single submitter cerebral creatine deficiency syndrome
  • p.Ala29= Single submitter cerebral creatine deficiency syndrome
  • p.Ala54= Single submitter cerebral creatine deficiency syndrome
  • p.Ala55= Single submitter cerebral creatine deficiency syndrome
  • p.Ala57= Single submitter cerebral creatine deficiency syndrome
  • p.Ala6= Single submitter cerebral creatine deficiency syndrome
  • p.Ala74= Single submitter cerebral creatine deficiency syndrome
  • p.Ala81= Single submitter cerebral creatine deficiency syndrome
  • p.Arg105= Single submitter cerebral creatine deficiency syndrome
  • p.Arg203= Single submitter
  • p.Arg208= Single submitter cerebral creatine deficiency syndrome
  • p.Arg35= Single submitter cerebral creatine deficiency syndrome
  • p.Arg98= Single submitter cerebral creatine deficiency syndrome
  • p.Asn15= Single submitter cerebral creatine deficiency syndrome
  • p.Asn154= Single submitter cerebral creatine deficiency syndrome
  • p.Asn92= Single submitter cerebral creatine deficiency syndrome
  • p.Asp126= Single submitter cerebral creatine deficiency syndrome
  • p.Asp184= Single submitter cerebral creatine deficiency syndrome
  • p.Cys91= Single submitter cerebral creatine deficiency syndrome
  • p.Gln193= Single submitter cerebral creatine deficiency syndrome
  • p.Gln79= Single submitter cerebral creatine deficiency syndrome
  • p.Gln97= Single submitter cerebral creatine deficiency syndrome
  • p.Glu14= Single submitter cerebral creatine deficiency syndrome
  • p.Glu142= Single submitter cerebral creatine deficiency syndrome
  • p.Glu205= Single submitter cerebral creatine deficiency syndrome
  • p.Glu210= Single submitter cerebral creatine deficiency syndrome
  • p.Glu46= Single submitter cerebral creatine deficiency syndrome
  • p.Glu66= Single submitter cerebral creatine deficiency syndrome
  • p.Gly13= Single submitter cerebral creatine deficiency syndrome
  • p.Gly131= Single submitter cerebral creatine deficiency syndrome
  • p.Gly164= Single submitter cerebral creatine deficiency syndrome
  • p.Gly175= Single submitter cerebral creatine deficiency syndrome
  • p.Gly61= Single submitter cerebral creatine deficiency syndrome
  • p.His108= Single submitter cerebral creatine deficiency syndrome
  • p.His145= Single submitter cerebral creatine deficiency syndrome
  • p.Ile152= Single submitter cerebral creatine deficiency syndrome
  • p.Ile185= Single submitter cerebral creatine deficiency syndrome
  • p.Ile36= Single submitter cerebral creatine deficiency syndrome
  • p.Ile88= Single submitter cerebral creatine deficiency syndrome
  • p.Ile89= Single submitter cerebral creatine deficiency syndrome
  • p.Ile9= Single submitter cerebral creatine deficiency syndrome
  • p.Leu113= Single submitter cerebral creatine deficiency syndrome
  • p.Leu133= Single submitter cerebral creatine deficiency syndrome
  • p.Leu159= Single submitter cerebral creatine deficiency syndrome
  • p.Leu166= Single submitter cerebral creatine deficiency syndrome
  • p.Leu171= Single submitter cerebral creatine deficiency syndrome
  • p.Leu197= Single submitter cerebral creatine deficiency syndrome
  • p.Leu198= Single submitter cerebral creatine deficiency syndrome
  • p.Leu232= Single submitter cerebral creatine deficiency syndrome
  • p.Leu65= Single submitter cerebral creatine deficiency syndrome
  • p.Lys179= Single submitter cerebral creatine deficiency syndrome
  • p.Lys181= Single submitter
  • p.Phe202= Single submitter cerebral creatine deficiency syndrome
  • p.Phe225= Single submitter cerebral creatine deficiency syndrome
  • p.Phe69= Single submitter cerebral creatine deficiency syndrome
  • p.Pro12= Single submitter cerebral creatine deficiency syndrome
  • p.Pro122= Single submitter cerebral creatine deficiency syndrome
  • p.Pro162= Single submitter cerebral creatine deficiency syndrome
  • p.Pro18= Single submitter cerebral creatine deficiency syndrome
  • p.Pro216= Single submitter cerebral creatine deficiency syndrome
  • p.Pro226= Single submitter cerebral creatine deficiency syndrome
  • p.Pro231= Single submitter cerebral creatine deficiency syndrome
  • p.Pro40= Single submitter cerebral creatine deficiency syndrome
  • p.Pro48= Single submitter cerebral creatine deficiency syndrome
  • p.Pro8= Single submitter cerebral creatine deficiency syndrome
  • p.Pro82= Single submitter cerebral creatine deficiency syndrome
  • p.Ser173= Single submitter cerebral creatine deficiency syndrome
  • p.Ser180= Single submitter cerebral creatine deficiency syndrome
  • p.Ser2= Single submitter cerebral creatine deficiency syndrome
  • p.Thr107= Single submitter cerebral creatine deficiency syndrome
  • p.Thr123= Single submitter cerebral creatine deficiency syndrome
  • p.Thr143= Single submitter cerebral creatine deficiency syndrome
  • p.Thr172= Single submitter cerebral creatine deficiency syndrome
  • p.Thr192= Single submitter cerebral creatine deficiency syndrome
  • p.Thr209= Single submitter cerebral creatine deficiency syndrome
  • p.Thr230= Single submitter cerebral creatine deficiency syndrome
  • p.Thr47= Single submitter cerebral creatine deficiency syndrome
  • p.Thr7= Single submitter cerebral creatine deficiency syndrome
  • p.Tyr222= Single submitter cerebral creatine deficiency syndrome
  • p.Tyr223= Single submitter cerebral creatine deficiency syndrome
  • p.Tyr27= Single submitter cerebral creatine deficiency syndrome
  • p.Tyr49= Single submitter cerebral creatine deficiency syndrome
  • p.Val67= Single submitter cerebral creatine deficiency syndrome
  • c.570+204C>T No assertion criteria GAMT-related disorder
  • c.570+221G>A No assertion criteria GAMT-related disorder

Uncertain significance 241

  • c.328-10C>T Expert panel guanidinoacetate methyltransferase deficiency
  • c.459+9_459+12del Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ala57Asp Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg100Gln Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg203Gln Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg208Cys Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg208His Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Asp219Asn Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Gln106Pro Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Gln193Arg Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Glu191Lys Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Gly236Ala Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Gly61Arg Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.His147fs Expert panel guanidinoacetate methyltransferase deficiency
  • p.Ile111Leu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Lys235Asn Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Pro217Leu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Pro226Leu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Ser76= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Thr146= Expert panel guanidinoacetate methyltransferase deficiency
  • p.Thr192Met Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr230Met Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr234Ile Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Trp20Leu Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • p.Tyr137Ser Expert panel guanidinoacetate methyltransferase deficiency ⚠
  • c.327+5C>T Multiple submitters cerebral creatine deficiency syndrome
  • c.570+5G>A Multiple submitters cerebral creatine deficiency syndrome
  • c.570+5G>T Multiple submitters cerebral creatine deficiency syndrome
  • c.-79G>A Multiple submitters guanidinoacetate methyltransferase deficiency
  • c.*69G>A Multiple submitters guanidinoacetate methyltransferase deficiency
  • p.Ala156Thr Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ala224Pro Multiple submitters Inborn genetic diseases
  • p.Ala22Thr Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ala23Val Multiple submitters Inborn genetic diseases
  • p.Ala3Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala52Thr Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ala56Val Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ala6Thr Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ala6Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala74Thr Multiple submitters cerebral creatine deficiency syndrome
  • p.Arg105Trp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg158Cys Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg158His Multiple submitters guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg203Trp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg204Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg208Ser Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg221Cys Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg221His Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg63Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg98Gln Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Arg98Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn154Lys Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Asn170Ser Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Asp219Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln97His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu118Asp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Glu14Asp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Glu14Gly Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Gly115Asp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Gly127Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly164Val Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Gly201Asp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Gly201Ser Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Gly94Ser Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.His147Gln Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.His155Asp Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.His155Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile185Leu Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ile73Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile89del Multiple submitters cerebral creatine deficiency syndrome
  • p.Leu171Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu198Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu99Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Met212Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Met42Val Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Met50Ile Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Met71Val Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Pro104Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro162Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro217Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro217Gln Multiple submitters guanidinoacetate methyltransferase deficiency ⚠
  • p.Pro40Arg Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Ser140Leu Multiple submitters guanidinoacetate methyltransferase deficiency ⚠
  • p.Ser59dup Multiple submitters Inborn genetic diseases
  • p.Ser76Leu Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Thr123Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr172Ile Multiple submitters guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr7Asn Multiple submitters guanidinoacetate methyltransferase deficiency ⚠
  • p.Trp174Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Trp174Leu Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Val165Ile Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Val211Leu Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Val67Met Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Val78Met Multiple submitters cerebral creatine deficiency syndrome ⚠
  • p.Val95Ile Multiple submitters cerebral creatine deficiency syndrome ⚠
  • c.182-14_182-13del Single submitter
  • c.182-3_182dup Single submitter guanidinoacetate methyltransferase deficiency
  • c.327+4C>T Single submitter cerebral creatine deficiency syndrome
  • c.391+3G>A Single submitter cerebral creatine deficiency syndrome
  • c.391+5G>A Single submitter
  • c.459+3G>T Single submitter cerebral creatine deficiency syndrome
  • c.460-3C>T Single submitter cerebral creatine deficiency syndrome
  • c.570+209C>T Single submitter Inborn genetic diseases
  • c.570+46G>A Single submitter Inborn genetic diseases
  • c.570+49T>C Single submitter
  • c.570+6C>T Single submitter cerebral creatine deficiency syndrome
  • c.571-3C>A Single submitter cerebral creatine deficiency syndrome
  • c.*116C>T Single submitter guanidinoacetate methyltransferase deficiency
  • c.*239C>T Single submitter guanidinoacetate methyltransferase deficiency
  • c.*292C>T Single submitter guanidinoacetate methyltransferase deficiency
  • p.Ala103Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala196Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala200Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala213Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala25Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala30Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala52Leu Single submitter
  • p.Ala52Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala57dup Single submitter
  • p.Ala57Val Single submitter cerebral creatine deficiency syndrome
  • p.Ala74Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ala75Thr Single submitter ⚠
  • p.Arg208Leu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Arg44Gly Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Arg44His Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Arg63Gln Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asn150Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asn170Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asn206Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asp119Gly Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asp130Ala Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asp184Gly Single submitter ⚠
  • p.Asp31Val Single submitter Inborn genetic diseases ⚠
  • p.Asp84His Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Asp93Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Cys16Gly Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Gln193Glu Single submitter cerebral creatine deficiency syndrome
  • p.Glu142del Single submitter guanidinoacetate methyltransferase deficiency
  • p.Glu176Ala Single submitter ⚠
  • p.Glu176Gly Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Glu199Lys Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Glu210Val Single submitter Inborn genetic diseases ⚠
  • p.Glu43Gln Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Glu43Gly Single submitter ⚠
  • p.Gly13Arg Single submitter
  • p.Gly175Arg Single submitter ⚠
  • p.Gly175Trp Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Gly201Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly21Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly38Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Gly38Val Single submitter ⚠
  • p.Gly68Asp Single submitter Inborn genetic diseases ⚠
  • p.His108Gln Single submitter cerebral creatine deficiency syndrome ⚠
  • p.His145Gln Single submitter cerebral creatine deficiency syndrome ⚠
  • p.His155Tyr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.His51Leu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.His86Gln Single submitter ⚠
  • p.Ile152Met Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile185Val Single submitter Inborn genetic diseases ⚠
  • p.Ile187Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile36Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile73Met Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile73Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile83Asn Single submitter ⚠
  • p.Ile83Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ile9Asn Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu113Phe Single submitter guanidinoacetate methyltransferase deficiency ⚠
  • p.Leu116Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu116Gln Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu116Met Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu139Phe Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu139Pro Single submitter ⚠
  • p.Leu160Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu177Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu177Val Single submitter ⚠
  • p.Leu198Pro Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Leu34Met Single submitter ⚠
  • p.Leu99Ile Single submitter ⚠
  • p.Lys60Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Lys77Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Lys77Glu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Met188Lys Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Met188Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Met188Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Met212Ile Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Phe129Val Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Phe157Cys Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Phe96Leu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro195Ala Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro195Leu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro217Ser Single submitter ⚠
  • p.Pro231Leu Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro40Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro48Ser Single submitter ⚠
  • p.Pro4Ser Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Pro82Ser Single submitter ⚠
  • p.Pro8Leu Single submitter ⚠
  • p.Ser140Thr Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ser173Phe Single submitter ⚠
  • p.Ser58Ala Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Ser76Pro Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Thr107Ile Single submitter ⚠
  • p.Thr143Ile Single submitter cerebral creatine deficiency syndrome
  • p.Thr143Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr146Arg Single submitter guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr167Ile Single submitter ⚠
  • p.Thr192Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp102Arg Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Trp102Cys Single submitter ⚠
  • p.Trp117Ser Single submitter ⚠
  • p.Trp87Cys Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Tyr223Ter Single submitter cerebral creatine deficiency syndrome
  • p.Val120Gly Single submitter Inborn genetic diseases ⚠
  • p.Val120Met Single submitter cerebral creatine deficiency syndrome ⚠
  • p.Val233Met Single submitter cerebral creatine deficiency syndrome
  • p.Val67Glu Single submitter cerebral creatine deficiency syndrome ⚠
  • c.181+5C>A No assertion criteria guanidinoacetate methyltransferase deficiency
  • c.328-10C>G No assertion criteria guanidinoacetate methyltransferase deficiency
  • c.392-5T>C No assertion criteria guanidinoacetate methyltransferase deficiency
  • c.459+9C>T No assertion criteria guanidinoacetate methyltransferase deficiency
  • c.-6T>G No assertion criteria guanidinoacetate methyltransferase deficiency
  • c.*9C>T No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Ala55Thr No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg158Ser No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Arg221= No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Asp93Glu No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Cys220Tyr No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Gln227Arg No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Glu141= No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Glu90Asp No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Gly21= No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Gly70Ala No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.His33Gln No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.His86Arg No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Leu124= No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Phe189Ser No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Pro195Thr No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Ser173Thr No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr186Ala No assertion criteria guanidinoacetate methyltransferase deficiency ⚠
  • p.Thr234= No assertion criteria guanidinoacetate methyltransferase deficiency
  • p.Tyr49Asp No assertion criteria guanidinoacetate methyltransferase deficiency ⚠