AUH — 246 ClinVar variants
All ClinVar germline AUH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
13 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 13 Conflicting · 19 Benign · 4 Benign/Likely benign · 63 Likely benign · 119 Uncertain significance
Full AUH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AUH p.Ala248Thr
Conflicting
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala275Val
Conflicting
Single submitter
Inborn genetic diseases
-
AUH p.Ala7Val
Conflicting
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile129Val
Conflicting
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Pro47Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AUH p.Ala117Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Ala227Thr
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Arg226Cys
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Arg335Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Arg335His
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Asp300Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Gly140Asp
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Gly155Ala
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Gly219Ala
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Gly53Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Lys122Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Lys249Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Val208Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Val284Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Ala183Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala193Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala199Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala203Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala20Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala271Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala275Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala285Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala327Gly
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Arg125Trp
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Arg197Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Arg21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Arg226His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Asn106His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Asp75Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AUH p.Cys31Arg Uncertain significance Single submitter
-
AUH p.Gln260His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Gln52His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Glu145Ala
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Gly140Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Gly220Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Gly229Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Gly60Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Gly66Ala
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile129Phe
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
- AUH p.Ile179Val Uncertain significance Single submitter
- AUH p.Ile196Thr Uncertain significance Single submitter
-
AUH p.Lys144Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Lys160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Lys246Asn
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Lys246Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Met149Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Met230Ile
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Met286Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Phe238Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Phe278Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
- AUH p.Pro225Leu Uncertain significance Single submitter
-
AUH p.Pro9Ala
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ser112Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ser39Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AUH p.Trp50Arg Uncertain significance Single submitter
-
AUH p.Trp54Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AUH p.Val158Asp Uncertain significance Single submitter
-
AUH p.Val55Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
- AUH p.Phe238Leu Uncertain significance No assertion criteria
- AUH p.Thr221Ile Uncertain significance No assertion criteria
Predictors split 41
The independent predictors disagree with each other — read with care.
-
AUH p.Arg125Gln
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Arg241Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Asp244Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Cys26Tyr
Benign
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Glu247Ala
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Glu309Ala
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Gly264Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Ile108Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Leu325Val
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Lys270Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AUH p.Pro333Leu
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Val257Ile
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 1
-
AUH p.Ala114Gly
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala266Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ala28Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Ala6Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Arg21Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Arg287Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Asn166Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Asn86Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Asp167Asn
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Gly13Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Gly19Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.His256Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.His81Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile127Met
Conflicting
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile128Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile136Met
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ile176Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Leu103Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Leu15Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Leu274Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Pro156Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Pro156Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Pro333Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ser102Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ser102Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Ser159Cys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 1
-
AUH p.Val164Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AUH p.Val23Met
Uncertain significance
Single submitter
Inborn genetic diseases
- AUH p.Val288Met Uncertain significance Single submitter
All AUH variants
Pathogenic 13
- p.Arg197Ter Multiple submitters 3-methylglutaconic aciduria type 1
- p.Gly66fs Multiple submitters 3-methylglutaconic aciduria type 1
- c.263-2A>G Single submitter 3-methylglutaconic aciduria type 1
- c.330+1G>A Single submitter 3-methylglutaconic aciduria type 1
- c.419-2A>G Single submitter 3-methylglutaconic aciduria type 1
- p.Arg241Ter Single submitter 3-methylglutaconic aciduria type 1
- p.Arg96fs Single submitter
- p.Gly187Ser Single submitter 3-methylglutaconic aciduria type 1
- p.Phe157fs Single submitter 3-methylglutaconic aciduria type 1
- p.Val173fs Single submitter 3-methylglutaconic aciduria type 1
- c.895-1G>A No assertion criteria 3-methylglutaconic aciduria type 1
- p.Gly217Asp No assertion criteria 3-methylglutaconic aciduria type 1
- p.Ser27fs No assertion criteria 3-methylglutaconic aciduria type 1
Pathogenic/Likely pathogenic 3
- c.505+1G>C Multiple submitters 3-methylglutaconic aciduria type 1
- p.Glu277fs Multiple submitters 3-methylglutaconic aciduria
- c.943-2A>G No assertion criteria AUH-related disorder
Likely pathogenic 12
- c.656-2_656-1del Multiple submitters 3-methylglutaconic aciduria type 1
- p.Ala240Val Multiple submitters 3-methylglutaconic aciduria type 1
- p.Trp50Ter Multiple submitters
- c.262+1G>C Single submitter 3-methylglutaconic aciduria type 1
- c.599-2A>G Single submitter 3-methylglutaconic aciduria type 1
- c.656-2del Single submitter 3-methylglutaconic aciduria type 1
- p.Ala289Glu Single submitter
- p.Asp195Ala Single submitter 3-methylglutaconic aciduria type 1
- p.Gly186Cys Single submitter 3-methylglutaconic aciduria type 1
- p.Leu188fs Single submitter
- p.Met205fs Single submitter 3-methylglutaconic aciduria type 1
- p.Val164Glu No assertion criteria
Conflicting classifications of pathogenicity 13
- c.263-5_263-2del Single submitter 3-methylglutaconic aciduria type 1
- c.598+10A>C Single submitter 3-methylglutaconic aciduria type 1
- c.655+7G>A Single submitter 3-methylglutaconic aciduria type 1
- c.894+9C>A Single submitter 3-methylglutaconic aciduria type 1
- p.Ala248Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala275Val Single submitter Inborn genetic diseases ⚠
- p.Ala7Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Arg226= Single submitter 3-methylglutaconic aciduria type 1
- p.Ile127Met Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile129Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Pro317= Single submitter 3-methylglutaconic aciduria type 1
- p.Pro47Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr312= Single submitter 3-methylglutaconic aciduria type 1
Benign 19
- c.331-6G>A Multiple submitters 3-methylglutaconic aciduria type 1
- c.418+59A>G Multiple submitters
- c.419-107A>G Multiple submitters
- c.843+155G>A Multiple submitters
- c.843+188C>T Multiple submitters
- c.*107A>G Multiple submitters 3-methylglutaconic aciduria type 1
- p.Cys26Tyr Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Ile161= Multiple submitters 3-methylglutaconic aciduria type 1
- c.505+198T>C Single submitter
- c.506-172dup Single submitter
- c.598+235C>T Single submitter
- c.599-297A>G Single submitter
- c.656-263T>G Single submitter
- c.895-9del Single submitter 3-methylglutaconic aciduria type 1
- c.943-224_943-222del Single submitter
- c.943-6del Single submitter 3-methylglutaconic aciduria type 1
- c.943-6T>C Single submitter 3-methylglutaconic aciduria type 1
- c.-243A>G Single submitter
- c.*200A>G Single submitter 3-methylglutaconic aciduria type 1
Benign/Likely benign 4
- c.844-20T>C Multiple submitters 3-methylglutaconic aciduria type 1
- p.Ala266= Multiple submitters 3-methylglutaconic aciduria type 1
- p.Ala45= Multiple submitters 3-methylglutaconic aciduria type 1
- p.Glu309= Multiple submitters 3-methylglutaconic aciduria type 1
Likely benign 63
- c.262+14G>A Multiple submitters 3-methylglutaconic aciduria type 1
- c.263-11C>T Multiple submitters 3-methylglutaconic aciduria type 1
- c.655+15C>T Multiple submitters 3-methylglutaconic aciduria type 1
- c.843+129T>G Multiple submitters
- c.894+8C>A Multiple submitters 3-methylglutaconic aciduria type 1
- p.Ala58= Multiple submitters 3-methylglutaconic aciduria type 1
- p.Arg269= Multiple submitters 3-methylglutaconic aciduria type 1
- p.Asp265= Multiple submitters 3-methylglutaconic aciduria type 1
- c.262+10G>A Single submitter 3-methylglutaconic aciduria type 1
- c.262+7T>C Single submitter 3-methylglutaconic aciduria type 1
- c.263-10C>T Single submitter 3-methylglutaconic aciduria type 1
- c.263-14T>C Single submitter 3-methylglutaconic aciduria type 1
- c.263-15T>C Single submitter 3-methylglutaconic aciduria type 1
- c.330+13A>T Single submitter 3-methylglutaconic aciduria type 1
- c.330+9A>G Single submitter 3-methylglutaconic aciduria type 1
- c.331-12A>G Single submitter 3-methylglutaconic aciduria type 1
- c.331-14C>T Single submitter 3-methylglutaconic aciduria type 1
- c.331-45dup Single submitter
- c.331-8C>T Single submitter 3-methylglutaconic aciduria type 1
- c.505+18C>G Single submitter 3-methylglutaconic aciduria type 1
- c.505+7A>G Single submitter 3-methylglutaconic aciduria type 1
- c.506-6T>C Single submitter 3-methylglutaconic aciduria type 1
- c.506-8C>T Single submitter 3-methylglutaconic aciduria type 1
- c.506-9C>T Single submitter 3-methylglutaconic aciduria type 1
- c.598+11A>T Single submitter 3-methylglutaconic aciduria type 1
- c.598+9_598+12del Single submitter 3-methylglutaconic aciduria type 1
- c.599-7G>A Single submitter 3-methylglutaconic aciduria type 1
- c.599-8C>T Single submitter 3-methylglutaconic aciduria type 1
- c.655+11T>A Single submitter 3-methylglutaconic aciduria type 1
- c.656-17T>G Single submitter 3-methylglutaconic aciduria type 1
- c.656-289G>T Single submitter
- c.656-8C>T Single submitter 3-methylglutaconic aciduria type 1
- c.843+13A>G Single submitter 3-methylglutaconic aciduria type 1
- c.894+13A>C Single submitter
- c.894+14dup Single submitter 3-methylglutaconic aciduria type 1
- c.894+19G>C Single submitter 3-methylglutaconic aciduria type 1
- c.942+235A>G Single submitter
- c.943-16A>G Single submitter 3-methylglutaconic aciduria type 1
- c.-28T>C Single submitter
- c.-45C>A Single submitter
- p.Ala114= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala191= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala233= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala240= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala275= Single submitter
- p.Ala4= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala51= Single submitter 3-methylglutaconic aciduria type 1
- p.Ala8= Single submitter
- p.Arg332= Single submitter 3-methylglutaconic aciduria type 1
- p.Asn166= Single submitter 3-methylglutaconic aciduria type 1
- p.Gly219= Single submitter 3-methylglutaconic aciduria type 1
- p.Gly53= Single submitter 3-methylglutaconic aciduria type 1
- p.His256= Single submitter 3-methylglutaconic aciduria type 1
- p.Leu182= Single submitter 3-methylglutaconic aciduria type 1
- p.Leu22= Single submitter 3-methylglutaconic aciduria type 1
- p.Lys246= Single submitter 3-methylglutaconic aciduria type 1
- p.Phe238= Single submitter 3-methylglutaconic aciduria type 1
- p.Ser201= Single submitter 3-methylglutaconic aciduria type 1
- p.Thr303= Single submitter 3-methylglutaconic aciduria type 1
- p.Tyr268= Single submitter 3-methylglutaconic aciduria type 1
- p.Val158= Single submitter 3-methylglutaconic aciduria type 1
- p.Val288= Single submitter 3-methylglutaconic aciduria type 1
- p.Val299= Single submitter 3-methylglutaconic aciduria type 1
Uncertain significance 119
- c.655+3A>C Multiple submitters 3-methylglutaconic aciduria type 1
- c.942+4dup Multiple submitters 3-methylglutaconic aciduria type 1
- p.Ala117Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala227Thr Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Arg125Gln Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Arg226Cys Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Arg241Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg335Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg335His Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Asp244Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp300Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu247Ala Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Glu309Ala Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Gly140Asp Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Gly155Ala Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Gly219Ala Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Gly264Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly53Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile108Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu325Val Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Lys122Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys249Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys270Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys331Ter Multiple submitters 3-methylglutaconic aciduria type 1
- p.Pro333Leu Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Val208Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val257Ile Multiple submitters 3-methylglutaconic aciduria type 1 ⚠
- p.Val284Ile Multiple submitters Inborn genetic diseases ⚠
- c.262+8G>A Single submitter 3-methylglutaconic aciduria type 1
- c.331-20T>A Single submitter 3-methylglutaconic aciduria type 1
- c.418+5G>A Single submitter 3-methylglutaconic aciduria type 1
- c.419-5T>G Single submitter 3-methylglutaconic aciduria type 1
- c.505+5G>A Single submitter 3-methylglutaconic aciduria type 1
- c.655+3A>T Single submitter 3-methylglutaconic aciduria type 1
- c.-30C>G Single submitter 3-methylglutaconic aciduria type 1
- c.*175G>A Single submitter 3-methylglutaconic aciduria type 1
- c.*218_*219del Single submitter
- c.*237G>A Single submitter 3-methylglutaconic aciduria type 1
- c.*29G>A Single submitter 3-methylglutaconic aciduria type 1
- c.*432C>T Single submitter 3-methylglutaconic aciduria type 1
- c.*60G>A Single submitter 3-methylglutaconic aciduria type 1
- p.Ala114Gly Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala183Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala193Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala199Pro Single submitter Inborn genetic diseases ⚠
- p.Ala203Gly Single submitter Inborn genetic diseases ⚠
- p.Ala20Val Single submitter Inborn genetic diseases ⚠
- p.Ala266Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala271Thr Single submitter Inborn genetic diseases ⚠
- p.Ala275Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala285Thr Single submitter Inborn genetic diseases ⚠
- p.Ala28Val Single submitter Inborn genetic diseases ⚠
- p.Ala327Gly Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ala6Glu Single submitter Inborn genetic diseases ⚠
- p.Arg125Trp Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Arg197Gln Single submitter Inborn genetic diseases ⚠
- p.Arg21Cys Single submitter Inborn genetic diseases ⚠
- p.Arg21Leu Single submitter Inborn genetic diseases ⚠
- p.Arg226His Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Arg287Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Arg87= Single submitter 3-methylglutaconic aciduria type 1
- p.Asn106His Single submitter Inborn genetic diseases ⚠
- p.Asn166Lys Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Asn86Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp167Asn Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Asp75Ala Single submitter Inborn genetic diseases ⚠
- p.Cys31Arg Single submitter ⚠
- p.Gln260His Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Gln52His Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Glu145Ala Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Gly13Glu Single submitter Inborn genetic diseases ⚠
- p.Gly140Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Gly19Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Gly220Arg Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Gly229Arg Single submitter Inborn genetic diseases ⚠
- p.Gly60Arg Single submitter Inborn genetic diseases ⚠
- p.Gly66Ala Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.His256Tyr Single submitter Inborn genetic diseases ⚠
- p.His81Gln Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile128Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile129Phe Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile136Met Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile176Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ile179Val Single submitter ⚠
- p.Ile196Thr Single submitter ⚠
- p.Leu103Phe Single submitter Inborn genetic diseases ⚠
- p.Leu15Gln Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Leu274Met Single submitter Inborn genetic diseases ⚠
- p.Lys123= Single submitter
- p.Lys144Glu Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Lys160Thr Single submitter Inborn genetic diseases ⚠
- p.Lys246Asn Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Lys246Glu Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Lys72_Thr73insLys Single submitter 3-methylglutaconic aciduria type 1
- p.Met149Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Met230Ile Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Met286Val Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Phe238Ser Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Phe278Ser Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Pro156Arg Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Pro156Ser Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro333Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Pro9Ala Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ser102Leu Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ser102Thr Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ser112Leu Single submitter Inborn genetic diseases ⚠
- p.Ser159Cys Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Ser39Leu Single submitter Inborn genetic diseases ⚠
- p.Trp50Arg Single submitter ⚠
- p.Trp54Cys Single submitter Inborn genetic diseases ⚠
- p.Val158Asp Single submitter ⚠
- p.Val164Ala Single submitter Inborn genetic diseases ⚠
- p.Val23Met Single submitter Inborn genetic diseases ⚠
- p.Val288Met Single submitter ⚠
- p.Val55Leu Single submitter 3-methylglutaconic aciduria type 1 ⚠
- p.Val90_Ile94del Single submitter 3-methylglutaconic aciduria type 1
- p.Phe238Leu No assertion criteria ⚠
- p.Thr221Ile No assertion criteria ⚠