Sugi Variant

Sugi Variant/MAT1A

MAT1A — 372 ClinVar variants

All ClinVar germline MAT1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

24 Pathogenic · 6 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 25 Conflicting · 35 Benign · 2 Benign/Likely benign · 85 Likely benign · 188 Uncertain significance

Full MAT1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 164

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 13

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

Predictors lean, ClinVar uncertain 113

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

Predictors split 36

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

All MAT1A variants

Pathogenic 24

  • p.Ala259Val Multiple submitters MAT1A-related disorder
  • p.Arg199His Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Arg264Cys Multiple submitters methionine adenosyltransferase deficiency
  • p.Arg264His Multiple submitters MAT1A-related disorder
  • p.Ile322Val Multiple submitters methionine adenosyltransferase deficiency
  • p.Pro357Leu Multiple submitters methionine adenosyltransferase deficiency
  • p.Ser180fs Multiple submitters methionine adenosyltransferase deficiency
  • c.768+2T>A Single submitter methionine adenosyltransferase deficiency
  • p.Arg292Leu Single submitter methionine adenosyltransferase deficiency
  • p.Arg356Trp Single submitter methionine adenosyltransferase deficiency
  • p.Asp258Val Single submitter methionine adenosyltransferase deficiency
  • p.Gln119Ter Single submitter methionine adenosyltransferase deficiency
  • p.Gly378Ser Single submitter
  • p.Ile322Met Single submitter methionine adenosyltransferase deficiency
  • p.Ile37Thr Single submitter methionine adenosyltransferase deficiency
  • p.Ile87Asn Single submitter methionine adenosyltransferase deficiency
  • p.Leu42fs Single submitter methionine adenosyltransferase deficiency
  • p.Thr153fs Single submitter methionine adenosyltransferase deficiency
  • p.Trp175Ter Single submitter
  • p.Trp274Ter Single submitter methionine adenosyltransferase deficiency
  • p.Tyr235Ter Single submitter methionine adenosyltransferase deficiency
  • p.Ala276fs No assertion criteria methionine adenosyltransferase deficiency
  • p.Leu305Pro No assertion criteria methionine adenosyltransferase deficiency
  • p.Val348fs No assertion criteria methionine adenosyltransferase deficiency

Pathogenic/Likely pathogenic 6

  • p.Arg199Cys Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Arg292Cys Multiple submitters methionine adenosyltransferase deficiency
  • p.Arg299Cys Multiple submitters methionine adenosyltransferase deficiency
  • p.Asp258Tyr Multiple submitters methionine adenosyltransferase deficiency
  • p.Gly63Val Multiple submitters methionine adenosyltransferase deficiency
  • p.Pro255Ser Multiple submitters methionine adenosyltransferase deficiency

Likely pathogenic 7

  • c.293-2A>G Single submitter methionine adenosyltransferase deficiency
  • c.92-2A>C Single submitter methionine adenosyltransferase deficiency
  • p.Arg299His Single submitter methionine adenosyltransferase deficiency
  • p.Gln208Pro Single submitter methionine adenosyltransferase deficiency
  • p.Gly257Arg Single submitter methionine adenosyltransferase deficiency
  • p.Gly98Ser Single submitter
  • p.Leu176Gln Single submitter

Conflicting classifications of pathogenicity 25

  • c.170-12G>A Single submitter methionine adenosyltransferase deficiency
  • c.550-5G>A Single submitter methionine adenosyltransferase deficiency
  • p.Arg177Trp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg228Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg292His Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Cys120= Single submitter Inborn genetic diseases
  • p.Cys68= Single submitter methionine adenosyltransferase deficiency
  • p.Glu238Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly253Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly272= Single submitter methionine adenosyltransferase deficiency
  • p.Gly323Asp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly336Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly358= Single submitter methionine adenosyltransferase deficiency
  • p.Gly91Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.His277Tyr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile322Phe Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile322Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met76Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Phe353= Single submitter methionine adenosyltransferase deficiency
  • p.Pro30= Single submitter methionine adenosyltransferase deficiency
  • p.Pro327= Single submitter methionine adenosyltransferase deficiency
  • p.Thr214= Single submitter methionine adenosyltransferase deficiency
  • p.Tyr235= Single submitter methionine adenosyltransferase deficiency
  • p.Tyr296Cys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val241Ile Single submitter Inborn genetic diseases ⚠

Benign 35

Benign/Likely benign 2

  • c.1085+15G>A Multiple submitters methionine adenosyltransferase deficiency
  • p.Gly263= Multiple submitters methionine adenosyltransferase deficiency

Likely benign 85

  • c.170-13C>T Multiple submitters methionine adenosyltransferase deficiency
  • c.405+7C>T Multiple submitters methionine adenosyltransferase deficiency
  • p.Ala229= Multiple submitters methionine adenosyltransferase deficiency
  • p.Gly284= Multiple submitters methionine adenosyltransferase deficiency
  • p.Thr143= Multiple submitters methionine adenosyltransferase deficiency
  • p.Thr240= Multiple submitters methionine adenosyltransferase deficiency
  • p.Thr58= Multiple submitters methionine adenosyltransferase deficiency
  • c.1085+20T>A Single submitter methionine adenosyltransferase deficiency
  • c.169+11C>A Single submitter methionine adenosyltransferase deficiency
  • c.169+13C>T Single submitter methionine adenosyltransferase deficiency
  • c.169+17C>T Single submitter methionine adenosyltransferase deficiency
  • c.170-15C>G Single submitter methionine adenosyltransferase deficiency
  • c.170-18C>T Single submitter methionine adenosyltransferase deficiency
  • c.170-20C>T Single submitter methionine adenosyltransferase deficiency
  • c.292+12C>T Single submitter methionine adenosyltransferase deficiency
  • c.292+16C>T Single submitter methionine adenosyltransferase deficiency
  • c.292+17G>A Single submitter methionine adenosyltransferase deficiency
  • c.292+17G>C Single submitter methionine adenosyltransferase deficiency
  • c.293-20C>T Single submitter methionine adenosyltransferase deficiency
  • c.293-6G>A Single submitter methionine adenosyltransferase deficiency
  • c.405+10C>G Single submitter
  • c.405+8G>A Single submitter methionine adenosyltransferase deficiency
  • c.406-15G>A Single submitter methionine adenosyltransferase deficiency
  • c.406-7G>A Single submitter methionine adenosyltransferase deficiency
  • c.406-7G>T Single submitter methionine adenosyltransferase deficiency
  • c.406-8C>T Single submitter methionine adenosyltransferase deficiency
  • c.550-9G>C Single submitter methionine adenosyltransferase deficiency
  • c.768+10T>G Single submitter methionine adenosyltransferase deficiency
  • c.768+20C>T Single submitter methionine adenosyltransferase deficiency
  • c.768+5A>G Single submitter
  • c.769-14C>A Single submitter methionine adenosyltransferase deficiency
  • c.769-7T>C Single submitter methionine adenosyltransferase deficiency
  • c.91+10C>T Single submitter methionine adenosyltransferase deficiency
  • c.91+11T>G Single submitter methionine adenosyltransferase deficiency
  • c.92-18A>G Single submitter methionine adenosyltransferase deficiency
  • c.951+15C>A Single submitter methionine adenosyltransferase deficiency
  • c.951+15C>G Single submitter methionine adenosyltransferase deficiency
  • c.952-18G>A Single submitter methionine adenosyltransferase deficiency
  • c.952-19C>T Single submitter methionine adenosyltransferase deficiency
  • c.*1268T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1727G>A Single submitter methionine adenosyltransferase deficiency
  • p.Ala194= Single submitter
  • p.Ala259= Single submitter methionine adenosyltransferase deficiency
  • p.Ala325= Single submitter methionine adenosyltransferase deficiency
  • p.Ala55= Single submitter methionine adenosyltransferase deficiency
  • p.Ala75= Single submitter methionine adenosyltransferase deficiency
  • p.Arg299= Single submitter methionine adenosyltransferase deficiency
  • p.Asn105= Single submitter methionine adenosyltransferase deficiency
  • p.Asn161= Single submitter methionine adenosyltransferase deficiency
  • p.Asn210= Single submitter methionine adenosyltransferase deficiency
  • p.Asp144= Single submitter methionine adenosyltransferase deficiency
  • p.Asp237= Single submitter methionine adenosyltransferase deficiency
  • p.Asp239= Single submitter methionine adenosyltransferase deficiency
  • p.Asp347= Single submitter methionine adenosyltransferase deficiency
  • p.Asp354= Single submitter methionine adenosyltransferase deficiency
  • p.Glu342= Single submitter methionine adenosyltransferase deficiency
  • p.Glu344= Single submitter methionine adenosyltransferase deficiency
  • p.Glu388= Single submitter
  • p.Gly193= Single submitter methionine adenosyltransferase deficiency
  • p.Gly257= Single submitter methionine adenosyltransferase deficiency
  • p.Gly7= Single submitter methionine adenosyltransferase deficiency
  • p.His89= Single submitter methionine adenosyltransferase deficiency
  • p.Ile196= Single submitter methionine adenosyltransferase deficiency
  • p.Ile203= Single submitter methionine adenosyltransferase deficiency
  • p.Leu173= Single submitter
  • p.Leu222= Single submitter
  • p.Leu66= Single submitter methionine adenosyltransferase deficiency
  • p.Lys289= Single submitter methionine adenosyltransferase deficiency
  • p.Lys61= Single submitter methionine adenosyltransferase deficiency
  • p.Lys88= Single submitter
  • p.Phe139= Single submitter methionine adenosyltransferase deficiency
  • p.Pro232= Single submitter methionine adenosyltransferase deficiency
  • p.Ser170= Single submitter methionine adenosyltransferase deficiency
  • p.Ser22= Single submitter methionine adenosyltransferase deficiency
  • p.Ser247= Single submitter methionine adenosyltransferase deficiency
  • p.Thr182= Single submitter methionine adenosyltransferase deficiency
  • p.Thr334= Single submitter methionine adenosyltransferase deficiency
  • p.Thr62= Single submitter methionine adenosyltransferase deficiency
  • p.Tyr92= Single submitter methionine adenosyltransferase deficiency
  • p.Val130= Single submitter methionine adenosyltransferase deficiency
  • p.Val230= Single submitter methionine adenosyltransferase deficiency
  • p.Val306= Single submitter methionine adenosyltransferase deficiency
  • p.Val316= Single submitter methionine adenosyltransferase deficiency
  • p.Val361= Single submitter methionine adenosyltransferase deficiency
  • p.Val41= Single submitter methionine adenosyltransferase deficiency

Uncertain significance 188

  • c.91+6T>C Multiple submitters methionine adenosyltransferase deficiency
  • c.*1673C>T Multiple submitters methionine adenosyltransferase deficiency
  • c.*610G>C Multiple submitters methionine adenosyltransferase deficiency
  • p.Ala194Thr Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Ala55Thr Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Arg163Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg219Cys Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Arg81Gln Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Arg81Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn105Lys Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Asp100Glu Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Asp354Asn Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Cys120Tyr Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Gly171Ser Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Gly98Asp Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Ile33Asn Multiple submitters MAT1A-related disorder ⚠
  • p.Ile90Val Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Leu107Val Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Leu222Arg Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Leu328Pro Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Leu346Met Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Lys289Arg Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Pro151Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro4Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser170Pro Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Ser247Asn Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Thr21Ile Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Thr86Ile Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Tyr141Cys Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Tyr335His Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Val106Met Multiple submitters methionine adenosyltransferase deficiency ⚠
  • p.Val198Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val306Leu Multiple submitters Inborn genetic diseases ⚠
  • c.293-10T>G Single submitter methionine adenosyltransferase deficiency
  • c.406-3C>T Single submitter methionine adenosyltransferase deficiency
  • c.550-18C>G Single submitter
  • c.769-13T>C Single submitter methionine adenosyltransferase deficiency
  • c.951+4A>G Single submitter methionine adenosyltransferase deficiency
  • c.951+6C>A Single submitter methionine adenosyltransferase deficiency
  • c.952-5G>A Single submitter methionine adenosyltransferase deficiency
  • c.952-9T>C Single submitter methionine adenosyltransferase deficiency
  • c.-23C>T Single submitter methionine adenosyltransferase deficiency
  • c.-63C>T Single submitter methionine adenosyltransferase deficiency
  • c.-66del Single submitter
  • c.*1029G>A Single submitter methionine adenosyltransferase deficiency
  • c.*1058T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1078C>T Single submitter methionine adenosyltransferase deficiency
  • c.*1100C>G Single submitter methionine adenosyltransferase deficiency
  • c.*1192C>G Single submitter methionine adenosyltransferase deficiency
  • c.*1207T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1382G>A Single submitter methionine adenosyltransferase deficiency
  • c.*1661G>C Single submitter methionine adenosyltransferase deficiency
  • c.*1691T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1741T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1820G>A Single submitter methionine adenosyltransferase deficiency
  • c.*1858T>C Single submitter methionine adenosyltransferase deficiency
  • c.*1924C>T Single submitter methionine adenosyltransferase deficiency
  • c.*736G>A Single submitter methionine adenosyltransferase deficiency
  • c.*747C>T Single submitter methionine adenosyltransferase deficiency
  • c.*84C>T Single submitter methionine adenosyltransferase deficiency
  • c.*862C>T Single submitter methionine adenosyltransferase deficiency
  • c.*968G>C Single submitter methionine adenosyltransferase deficiency
  • p.Ala109Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala118Gly Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala118Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala132Glu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala132Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala157Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala162Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala162Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala233Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala281Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala295Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala298Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala44Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala52Thr Single submitter ⚠
  • p.Ala52Val Single submitter methionine adenosyltransferase deficiency
  • p.Ala55Asp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ala75Asp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg163Trp Single submitter ⚠
  • p.Arg169Cys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg169His Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg177Pro Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg219Leu Single submitter methionine adenosyltransferase deficiency
  • p.Arg220Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg249Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg249Trp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg312Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg312Trp Single submitter ⚠
  • p.Arg343Ter Single submitter
  • p.Arg356Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Arg84Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asn192Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp129Asn Single submitter ⚠
  • p.Asp179Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp179Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp191Asn Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp258Asn Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp31Glu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp365Asn Single submitter ⚠
  • p.Asp49His Single submitter Inborn genetic diseases ⚠
  • p.Asp85Gly Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp93Asn Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp93Gly Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Asp93Tyr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Cys104Phe Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Cys120Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Cys60Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Cys9Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gln113Glu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gln183Glu Single submitter ⚠
  • p.Gln183Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gln317Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu145Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu211Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu216Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu216Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu23Ala Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu23Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu27Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu326Lys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Glu342Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly133Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly133del Single submitter methionine adenosyltransferase deficiency
  • p.Gly140Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly254Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly26Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly279Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly280Ala Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly280Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly309Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly309Glu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Gly63Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.His209Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile117Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile213Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile227Met Single submitter methionine adenosyltransferase deficiency
  • p.Ile252Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile267Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ile267Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Leu152Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Leu167Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu176Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Leu236Met Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Leu310Val Single submitter Inborn genetic diseases ⚠
  • p.Lys159Gln Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Lys234Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Lys32Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys61Glu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Lys97Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met138Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met164Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met189Ile Single submitter Inborn genetic diseases ⚠
  • p.Met189Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met74Val Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Met76Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe101Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Pro151Thr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Pro174Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Pro232Leu Single submitter ⚠
  • p.Pro30Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Pro357Arg Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser114Ala Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser114Phe Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser114Tyr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser12Tyr Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser206Phe Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Ser22Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Thr143Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Thr146Ala Single submitter ⚠
  • p.Thr182Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Thr214Met Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Thr270Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Thr337Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr341Ala Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Trp274Cys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Trp274Ser Single submitter methionine adenosyltransferase deficiency
  • p.Tyr271Cys Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Tyr271Pro Single submitter methionine adenosyltransferase deficiency
  • p.Tyr320Ser Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val121Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val184Leu Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val195Asp Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val204Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val231Met Single submitter methionine adenosyltransferase deficiency
  • p.Val290Ile Single submitter methionine adenosyltransferase deficiency ⚠
  • p.Val318Phe Single submitter Inborn genetic diseases ⚠
  • p.Val349Ala Single submitter methionine adenosyltransferase deficiency ⚠