OAT — 647 ClinVar variants
All ClinVar germline OAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →
40 Pathogenic · 28 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 25 Conflicting · 52 Benign · 3 Benign/Likely benign · 234 Likely benign · 209 Uncertain significance
Full OAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 188
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
OAT p.Arg154His
Conflicting
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Arg154Leu
Conflicting
Single submitter
Hyperornithinemia
-
OAT p.Asn118Asp
Conflicting
Single submitter
Inborn genetic diseases
-
OAT p.Asn54Lys
Conflicting
Single submitter
OAT-related disorder
-
OAT p.Gly146Val
Conflicting
Single submitter
OAT-related disorder
-
OAT p.Gly36Ala
Conflicting
Single submitter
Inborn genetic diseases
-
OAT p.Gly373Glu
Conflicting
Single submitter
OAT-related disorder
-
OAT p.Gly91Glu
Conflicting
Single submitter
OAT-related disorder
-
OAT p.Leu294His
Conflicting
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Met139Arg
Conflicting
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val105Ala
Conflicting
Single submitter
Inborn genetic diseases
-
OAT p.Val119Ile
Conflicting
Single submitter
ornithine aminotransferase deficiency
Predictors lean, ClinVar uncertain 123
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
OAT p.Ala262Asp
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ala270Val
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ala379Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Arg154Cys
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Arg16His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Asn282His
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asn282Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asn358Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asp205Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Asp263Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Asp389Tyr
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asp410Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Cys394Arg
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Gly329Ala
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ile431Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Leu215Pro
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Leu403Pro
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Lys167Thr
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Lys434Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Lys434Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Phe172Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Pro138Leu
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Pro300Arg
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ser15Ile
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Trp156Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Trp275Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Trp71Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Val258Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Val419Leu
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ala12Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ala214Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ala333Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ala335Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ala346Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ala349Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Ala349Pro
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Arg331Gln
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Arg396Gln
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Arg413Gly Uncertain significance Single submitter
-
OAT p.Asn132Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asn89Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asn99Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp195Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp211Glu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp308Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp387His
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp42Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Gln266Lys
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Gln35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Gln90Glu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Glu124Asp Uncertain significance Single submitter
-
OAT p.Glu264Asp
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu343Gln
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu347Lys
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu359Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Glu424Asp
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu427Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Gly17Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Gly291Glu Uncertain significance Single submitter
-
OAT p.Gly296Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Gly324Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- OAT p.Gly375Arg Uncertain significance Single submitter
- OAT p.Gly401Glu Uncertain significance Single submitter
-
OAT p.His134Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.His319Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.His408Asp
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Ile170Thr Uncertain significance Single submitter
- OAT p.Ile185Val Uncertain significance Single submitter
-
OAT p.Ile207Phe
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Ile382Thr Uncertain significance Single submitter
-
OAT p.Ile411Val
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ile429Val
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ile432Phe
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ile68Val
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Ile97Val Uncertain significance Single submitter
-
OAT p.Leu312Met
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Leu356Phe
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Leu62Pro Uncertain significance Single submitter
-
OAT p.Leu82Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Lys135Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Lys135Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Lys165Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Lys32Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Lys351Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Lys421Glu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Pro285Leu Uncertain significance Single submitter
-
OAT p.Pro285Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro37Ala
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro37Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro38Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro59Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser103Gly
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser193Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser20Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser438Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Thr26Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Thr322Ile
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Thr435Asn
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Trp178Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Trp178Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val105Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Val143Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val171Ile
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val301Met
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val304Glu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val304Gly
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val34Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Asn117Asp
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Asp80Glu
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.His53Gln
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.His94Tyr
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Ile207Val
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Ile43Ser
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Leu328Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
OAT p.Lys161Asn
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Lys167Arg
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Phe2Leu
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Pro416Leu
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Ser15Cys
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Thr109Ile
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Trp391Ser
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Tyr194His
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Tyr323His
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
Predictors split 53
The independent predictors disagree with each other — read with care.
-
OAT p.Ala173Thr
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ala61Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Arg16Cys
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Arg331Leu
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asn118Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Asn326Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Asp205Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Asp387Gly
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ile429Thr
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Phe131Leu
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Pro202Leu
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Pro202Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Pro95Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Thr148Ser
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Thr39Ile
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Tyr158Ser
Likely pathogenic
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Tyr209Cys
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Tyr50Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OAT p.Val371Ile
Uncertain significance
Multiple submitters
ornithine aminotransferase deficiency
-
OAT p.Ala415Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Arg396Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asn400Tyr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Asp195Tyr
Conflicting
Single submitter
Hyperornithinemia
-
OAT p.Asp205Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Asp389Gly
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu122Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Glu359Gly
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu422Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Glu63Gly
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.His53Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.His56Tyr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Leu259Val
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Leu289Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Leu352Phe
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Leu352Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Leu395Arg
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Lys362Glu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro202Thr
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro364Ser
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Pro417Ser
Conflicting
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser183Cys
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Ser84Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
OAT p.Thr189Ala
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Thr267Ala
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
- OAT p.Tyr158Cys Uncertain significance Single submitter
-
OAT p.Tyr280Cys
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val160Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val160Met
Conflicting
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Val301Leu
Uncertain significance
Single submitter
ornithine aminotransferase deficiency
-
OAT p.Glu342Lys
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Gly157Ser
Uncertain significance
No assertion criteria
ornithine aminotransferase deficiency
-
OAT p.Leu437Phe
Benign
No assertion criteria
ornithine aminotransferase deficiency
- OAT p.Val98Ala Uncertain significance No assertion criteria
All OAT variants
Pathogenic 40
- c.425-2A>G Multiple submitters ornithine aminotransferase deficiency
- p.Arg331Ter Multiple submitters OAT-related disorder
- p.Arg398Ter Multiple submitters Hyperornithinemia
- p.Arg426Ter Multiple submitters Hyperornithinemia
- p.Glu318fs Multiple submitters ornithine aminotransferase deficiency
- p.Gly401Ter Multiple submitters ornithine aminotransferase deficiency
- p.His53fs Multiple submitters ornithine aminotransferase deficiency
- p.Leu402Pro Multiple submitters OAT-related disorder
- p.Met1Ile Multiple submitters ornithine aminotransferase deficiency
- p.Met1Val Multiple submitters ornithine aminotransferase deficiency
- p.Phe177_Trp178insTer Multiple submitters inherited retinal dystrophy
- p.Thr181Met Multiple submitters OAT-related disorder
- p.Tyr209Ter Multiple submitters OAT-related disorder
- c.1159+1G>A Single submitter ornithine aminotransferase deficiency
- c.200-36_222del Single submitter ornithine aminotransferase deficiency
- c.425-4_429del Single submitter ornithine aminotransferase deficiency
- c.546_649-726del Single submitter ornithine aminotransferase deficiency
- c.648+2T>C Single submitter ornithine aminotransferase deficiency
- p.Ala270Pro Single submitter ornithine aminotransferase deficiency
- p.Ala335fs Single submitter ornithine aminotransferase deficiency
- p.Arg331fs Single submitter ornithine aminotransferase deficiency
- p.Asn176fs Single submitter ornithine aminotransferase deficiency
- p.Glu384Ter Single submitter ornithine aminotransferase deficiency
- p.Ile261fs Single submitter ornithine aminotransferase deficiency
- p.Ile380fs Single submitter ornithine aminotransferase deficiency
- p.Leu360fs Single submitter ornithine aminotransferase deficiency
- p.Leu395fs Single submitter ornithine aminotransferase deficiency
- p.Lys102fs Single submitter ornithine aminotransferase deficiency
- p.Lys421delinsTrpTer Single submitter ornithine aminotransferase deficiency
- p.Met1fs Single submitter ornithine aminotransferase deficiency
- p.Ser193fs Single submitter ornithine aminotransferase deficiency
- p.Trp156Ter Single submitter ornithine aminotransferase deficiency
- p.Trp178Ter Single submitter ornithine aminotransferase deficiency
- p.Val143fs Single submitter ornithine aminotransferase deficiency
- p.Val18fs Single submitter ornithine aminotransferase deficiency
- p.Ala184del No assertion criteria ornithine aminotransferase deficiency
- p.Ala184Thr No assertion criteria ornithine aminotransferase deficiency
- p.His319Tyr No assertion criteria ornithine aminotransferase deficiency
- p.Pro300Leu No assertion criteria ornithine aminotransferase deficiency
- p.Tyr55His No assertion criteria ornithine aminotransferase deficiency
Pathogenic/Likely pathogenic 28
- c.772-1G>A Multiple submitters OAT-related disorder
- c.900+1G>A Multiple submitters ornithine aminotransferase deficiency
- p.Ala61fs Multiple submitters ornithine aminotransferase deficiency
- p.Arg180Thr Multiple submitters OAT-related disorder
- p.Arg271Lys Multiple submitters ornithine aminotransferase deficiency
- p.Arg372fs Multiple submitters OAT-related disorder
- p.Arg396Ter Multiple submitters OAT-related disorder
- p.Cys394Tyr Multiple submitters ornithine aminotransferase deficiency
- p.Gln266Ter Multiple submitters ornithine aminotransferase deficiency
- p.Glu318Lys Multiple submitters OAT-related disorder
- p.Gly353Asp Multiple submitters OAT-related disorder
- p.Gly51Asp Multiple submitters Hyperornithinemia
- p.Gly65fs Multiple submitters OAT-related disorder
- p.Gly67fs Multiple submitters ornithine aminotransferase deficiency
- p.Ile436Asn Multiple submitters OAT-related disorder
- p.Leu259fs Multiple submitters ornithine aminotransferase deficiency
- p.Phe172fs Multiple submitters ornithine aminotransferase deficiency
- p.Phe260fs Multiple submitters OAT-related disorder
- p.Pro199Gln Multiple submitters ornithine aminotransferase deficiency
- p.Pro417Leu Multiple submitters OAT-related disorder
- p.Thr267Ile Multiple submitters OAT-related disorder
- p.Trp275Ter Multiple submitters ornithine aminotransferase deficiency
- p.Trp388Ter Multiple submitters ornithine aminotransferase deficiency
- p.Tyr166Ter Multiple submitters ornithine aminotransferase deficiency
- p.Tyr299Ter Multiple submitters ornithine aminotransferase deficiency
- p.Tyr323fs Multiple submitters ornithine aminotransferase deficiency
- p.Val332Met Multiple submitters ornithine aminotransferase deficiency
- p.Trp391Ter No assertion criteria ornithine aminotransferase deficiency
Likely pathogenic 56
- c.1014+1G>A Multiple submitters ornithine aminotransferase deficiency
- c.199+2T>A Multiple submitters ornithine aminotransferase deficiency
- c.520+1G>A Multiple submitters ornithine aminotransferase deficiency
- c.648+1G>A Multiple submitters ornithine aminotransferase deficiency
- c.881_900+51del Multiple submitters OAT-related disorder
- p.Gly375Ala Multiple submitters OAT-related disorder
- p.Thr33fs Multiple submitters ornithine aminotransferase deficiency
- p.Tyr158Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- c.1015del Single submitter ornithine aminotransferase deficiency
- c.1159+2T>A Single submitter ornithine aminotransferase deficiency
- c.1160-1G>C Single submitter ornithine aminotransferase deficiency
- c.198_199+6delinsTTAA Single submitter ornithine aminotransferase deficiency
- c.199+303C>G Single submitter Hyperornithinemia
- c.424+1G>A Single submitter ornithine aminotransferase deficiency
- c.520+1G>T Single submitter ornithine aminotransferase deficiency
- c.521-2A>T Single submitter OAT-related disorder
- c.648+2T>A Single submitter ornithine aminotransferase deficiency
- c.772-1G>C Single submitter ornithine aminotransferase deficiency
- c.772-1G>T Single submitter ornithine aminotransferase deficiency
- c.881_900+49del Single submitter Hyperornithinemia
- c.900+1G>C Single submitter ornithine aminotransferase deficiency
- c.901-1G>A Single submitter ornithine aminotransferase deficiency
- p.Asn117fs Single submitter ornithine aminotransferase deficiency
- p.Asn344fs Single submitter OAT-related disorder
- p.Asp211fs Single submitter ornithine aminotransferase deficiency
- p.Cys150Ter Single submitter ornithine aminotransferase deficiency
- p.Cys93Phe Single submitter ornithine aminotransferase deficiency
- p.Glu422Ter Single submitter ornithine aminotransferase deficiency
- p.Glu47fs Single submitter ornithine aminotransferase deficiency
- p.Gly17Ter Single submitter ornithine aminotransferase deficiency
- p.Gly198fs Single submitter ornithine aminotransferase deficiency
- p.Gly297Cys Single submitter ornithine aminotransferase deficiency
- p.Gly373Ter Single submitter OAT-related disorder
- p.Gly375fs Single submitter ornithine aminotransferase deficiency
- p.Ile412Thr Single submitter ornithine aminotransferase deficiency
- p.Leu345fs Single submitter ornithine aminotransferase deficiency
- p.Lys155fs Single submitter ornithine aminotransferase deficiency
- p.Lys292Arg Single submitter optic atrophy
- p.Lys32fs Single submitter ornithine aminotransferase deficiency
- p.Met1Thr Single submitter ornithine aminotransferase deficiency
- p.Pro300fs Single submitter ornithine aminotransferase deficiency
- p.Thr128fs Single submitter OAT-related disorder
- p.Thr267fs Single submitter ornithine aminotransferase deficiency
- p.Trp391fs Single submitter ornithine aminotransferase deficiency
- p.Tyr194Ter Single submitter ornithine aminotransferase deficiency
- p.Tyr299fs Single submitter ornithine aminotransferase deficiency
- p.Tyr323Ter Single submitter ornithine aminotransferase deficiency
- p.Tyr78Ter Single submitter ornithine aminotransferase deficiency
- c.901-2A>G No assertion criteria ornithine aminotransferase deficiency
- p.Asn326Lys No assertion criteria ornithine aminotransferase deficiency
- p.Asn89Lys No assertion criteria ornithine aminotransferase deficiency
- p.Gln104Arg No assertion criteria ornithine aminotransferase deficiency
- p.Glu125del No assertion criteria ornithine aminotransferase deficiency
- p.Gly121Asp No assertion criteria ornithine aminotransferase deficiency
- p.Gly142Glu No assertion criteria ornithine aminotransferase deficiency
- p.Pro327Arg No assertion criteria ornithine aminotransferase deficiency
Conflicting classifications of pathogenicity 25
- c.1015-6A>G Single submitter ornithine aminotransferase deficiency
- c.1160-13T>A Single submitter ornithine aminotransferase deficiency
- c.521-6T>G Single submitter ornithine aminotransferase deficiency
- p.Ala415= Single submitter ornithine aminotransferase deficiency
- p.Arg154His Single submitter ornithine aminotransferase deficiency ⚠
- p.Arg154Leu Single submitter Hyperornithinemia ⚠
- p.Asn118Asp Single submitter Inborn genetic diseases ⚠
- p.Asn54Lys Single submitter OAT-related disorder ⚠
- p.Asp195Tyr Single submitter Hyperornithinemia ⚠
- p.Asp41= Single submitter ornithine aminotransferase deficiency
- p.Gly146Val Single submitter OAT-related disorder ⚠
- p.Gly36Ala Single submitter Inborn genetic diseases ⚠
- p.Gly373Glu Single submitter OAT-related disorder ⚠
- p.Gly91Glu Single submitter OAT-related disorder ⚠
- p.His408= Single submitter ornithine aminotransferase deficiency
- p.Leu294His Single submitter ornithine aminotransferase deficiency ⚠
- p.Met139Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro213= Single submitter ornithine aminotransferase deficiency
- p.Pro417Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Thr159= Single submitter ornithine aminotransferase deficiency
- p.Tyr158_Gly162del Single submitter ornithine aminotransferase deficiency
- p.Tyr323= Single submitter ornithine aminotransferase deficiency
- p.Val105Ala Single submitter Inborn genetic diseases ⚠
- p.Val119Ile Single submitter ornithine aminotransferase deficiency ⚠
- p.Val160Met Single submitter ornithine aminotransferase deficiency ⚠
Benign 52
- c.1015-103A>C Multiple submitters
- c.1015-150C>T Multiple submitters
- c.1159+115T>C Multiple submitters
- c.1159+134G>A Multiple submitters
- c.1160-59C>T Multiple submitters ornithine aminotransferase deficiency
- c.199+19C>T Multiple submitters ornithine aminotransferase deficiency
- c.200-10T>C Multiple submitters ornithine aminotransferase deficiency
- c.200-182C>T Multiple submitters
- c.520+27A>G Multiple submitters
- c.648+146G>A Multiple submitters
- c.648+14A>G Multiple submitters ornithine aminotransferase deficiency
- c.772-141C>T Multiple submitters
- c.772-178C>G Multiple submitters
- c.772-190T>G Multiple submitters
- c.772-314G>C Multiple submitters
- c.901-154A>G Multiple submitters
- c.901-22T>C Multiple submitters ornithine aminotransferase deficiency
- c.901-57A>T Multiple submitters
- c.-29-81A>G Multiple submitters
- c.-94T>G Multiple submitters ornithine aminotransferase deficiency
- c.*185C>T Multiple submitters ornithine aminotransferase deficiency
- c.*535T>C Multiple submitters ornithine aminotransferase deficiency
- c.1159+215G>A Single submitter
- c.1159+258T>C Single submitter
- c.1160-108G>A Single submitter
- c.199+155_199+157del Single submitter
- c.199+156_199+157del Single submitter
- c.199+157del Single submitter
- c.200-52_200-51insA Single submitter
- c.424+6dup Single submitter ornithine aminotransferase deficiency
- c.520+142C>A Single submitter
- c.520+195_520+198del Single submitter
- c.520+195_520+206del Single submitter
- c.520+197A>T Single submitter
- c.520+199T>A Single submitter
- c.520+215T>C Single submitter
- c.520+217T>C Single submitter
- c.520+219T>C Single submitter
- c.520+221T>C Single submitter
- c.520+223T>C Single submitter
- c.520+227C>T Single submitter
- c.520+229C>T Single submitter
- c.520+231C>T Single submitter
- c.648+193C>G Single submitter
- c.772-10del Single submitter ornithine aminotransferase deficiency
- c.772-17dup Single submitter ornithine aminotransferase deficiency
- c.772-20del Single submitter ornithine aminotransferase deficiency
- c.901-229ATAA[10] Single submitter
- c.-38C>T Single submitter ornithine aminotransferase deficiency
- c.-53C>T Single submitter ornithine aminotransferase deficiency
- c.-59G>C Single submitter ornithine aminotransferase deficiency
- p.Leu437Phe No assertion criteria ornithine aminotransferase deficiency ⚠
Benign/Likely benign 3
- c.199+11_199+16dup Multiple submitters ornithine aminotransferase deficiency
- c.521-15_521-12del Multiple submitters ornithine aminotransferase deficiency
- p.Asn378= Multiple submitters ornithine aminotransferase deficiency
Likely benign 234
- c.1014+14C>G Multiple submitters ornithine aminotransferase deficiency
- c.1015-5C>T Multiple submitters ornithine aminotransferase deficiency
- c.199+20G>A Multiple submitters ornithine aminotransferase deficiency
- c.521-196T>G Multiple submitters
- c.648+66A>G Multiple submitters
- c.772-19T>A Multiple submitters ornithine aminotransferase deficiency
- c.900+15C>T Multiple submitters ornithine aminotransferase deficiency
- c.900+17C>G Multiple submitters ornithine aminotransferase deficiency
- c.900+9C>A Multiple submitters ornithine aminotransferase deficiency
- p.Ala370= Multiple submitters ornithine aminotransferase deficiency
- p.Asn118= Multiple submitters ornithine aminotransferase deficiency
- p.Asp350= Multiple submitters ornithine aminotransferase deficiency
- p.Gly317= Multiple submitters ornithine aminotransferase deficiency
- p.Gly375= Multiple submitters ornithine aminotransferase deficiency
- p.Ile380Val Multiple submitters ornithine aminotransferase deficiency
- p.Leu58= Multiple submitters ornithine aminotransferase deficiency
- p.Pro417= Multiple submitters ornithine aminotransferase deficiency
- p.Thr272= Multiple submitters ornithine aminotransferase deficiency
- p.Val332= Multiple submitters ornithine aminotransferase deficiency
- p.Val371= Multiple submitters ornithine aminotransferase deficiency
- c.1014+10G>C Single submitter ornithine aminotransferase deficiency
- c.1014+16G>A Single submitter ornithine aminotransferase deficiency
- c.1014+17C>T Single submitter ornithine aminotransferase deficiency
- c.1014+19A>C Single submitter ornithine aminotransferase deficiency
- c.1014+19A>G Single submitter ornithine aminotransferase deficiency
- c.1014+8C>T Single submitter ornithine aminotransferase deficiency
- c.1015-18A>C Single submitter ornithine aminotransferase deficiency
- c.1015-18A>T Single submitter ornithine aminotransferase deficiency
- c.1015-4G>A Single submitter ornithine aminotransferase deficiency
- c.1015-4G>C Single submitter ornithine aminotransferase deficiency
- c.1015-4G>T Single submitter ornithine aminotransferase deficiency
- c.1015-6A>C Single submitter ornithine aminotransferase deficiency
- c.1015-6del Single submitter ornithine aminotransferase deficiency
- c.1015-9dup Single submitter ornithine aminotransferase deficiency
- c.1159+10T>G Single submitter ornithine aminotransferase deficiency
- c.1159+15C>T Single submitter ornithine aminotransferase deficiency
- c.1159+16A>C Single submitter ornithine aminotransferase deficiency
- c.1160-12A>G Single submitter ornithine aminotransferase deficiency
- c.1160-13T>C Single submitter ornithine aminotransferase deficiency
- c.1160-15A>G Single submitter ornithine aminotransferase deficiency
- c.1160-16T>A Single submitter ornithine aminotransferase deficiency
- c.1160-20G>A Single submitter ornithine aminotransferase deficiency
- c.1160-43_1160-15del Single submitter ornithine aminotransferase deficiency
- c.1160-6del Single submitter ornithine aminotransferase deficiency
- c.199+12A>G Single submitter ornithine aminotransferase deficiency
- c.199+17T>C Single submitter ornithine aminotransferase deficiency
- c.199+18C>T Single submitter ornithine aminotransferase deficiency
- c.199+19C>A Single submitter ornithine aminotransferase deficiency
- c.199+20del Single submitter ornithine aminotransferase deficiency
- c.199+20G>T Single submitter ornithine aminotransferase deficiency
- c.199+288C>T Single submitter
- c.199+323A>G Single submitter
- c.199+8T>A Single submitter ornithine aminotransferase deficiency
- c.199+9C>A Single submitter ornithine aminotransferase deficiency
- c.200-13T>A Single submitter ornithine aminotransferase deficiency
- c.200-14del Single submitter ornithine aminotransferase deficiency
- c.200-6T>C Single submitter ornithine aminotransferase deficiency
- c.200-9G>A Single submitter ornithine aminotransferase deficiency
- c.424+8A>G Single submitter ornithine aminotransferase deficiency
- c.424+9T>C Single submitter ornithine aminotransferase deficiency
- c.425-11T>C Single submitter ornithine aminotransferase deficiency
- c.425-13T>C Single submitter ornithine aminotransferase deficiency
- c.425-20A>G Single submitter ornithine aminotransferase deficiency
- c.425-4A>G Single submitter ornithine aminotransferase deficiency
- c.425-5G>T Single submitter ornithine aminotransferase deficiency
- c.425-6T>C Single submitter ornithine aminotransferase deficiency
- c.520+10A>C Single submitter ornithine aminotransferase deficiency
- c.520+11T>C Single submitter ornithine aminotransferase deficiency
- c.520+17A>G Single submitter ornithine aminotransferase deficiency
- c.520+18T>G Single submitter ornithine aminotransferase deficiency
- c.520+195_520+202del Single submitter
- c.520+195A>T Single submitter
- c.520+198del Single submitter
- c.520+7G>A Single submitter ornithine aminotransferase deficiency
- c.521-1436C>G Single submitter
- c.521-7T>G Single submitter ornithine aminotransferase deficiency
- c.521-9C>T Single submitter ornithine aminotransferase deficiency
- c.648+12G>A Single submitter ornithine aminotransferase deficiency
- c.648+13_648+14inv Single submitter ornithine aminotransferase deficiency
- c.648+13C>T Single submitter ornithine aminotransferase deficiency
- c.648+18_648+19del Single submitter
- c.648+19A>C Single submitter ornithine aminotransferase deficiency
- c.648+20G>A Single submitter ornithine aminotransferase deficiency
- c.648+20G>T Single submitter ornithine aminotransferase deficiency
- c.648+44A>G Single submitter
- c.648+8A>C Single submitter ornithine aminotransferase deficiency
- c.649-240T>C Single submitter
- c.772-10T>C Single submitter ornithine aminotransferase deficiency
- c.772-20G>A Single submitter ornithine aminotransferase deficiency
- c.772-4del Single submitter ornithine aminotransferase deficiency
- c.772-5A>G Single submitter ornithine aminotransferase deficiency
- c.772-9C>T Single submitter ornithine aminotransferase deficiency
- c.900+10A>G Single submitter ornithine aminotransferase deficiency
- c.900+12G>C Single submitter ornithine aminotransferase deficiency
- c.900+13T>A Single submitter ornithine aminotransferase deficiency
- c.900+15C>A Single submitter ornithine aminotransferase deficiency
- c.900+18C>A Single submitter ornithine aminotransferase deficiency
- c.900+18C>T Single submitter ornithine aminotransferase deficiency
- c.900+20del Single submitter ornithine aminotransferase deficiency
- c.900+7T>C Single submitter ornithine aminotransferase deficiency
- c.901-10T>C Single submitter ornithine aminotransferase deficiency
- c.901-10T>G Single submitter ornithine aminotransferase deficiency
- c.901-12A>T Single submitter ornithine aminotransferase deficiency
- c.901-13G>T Single submitter ornithine aminotransferase deficiency
- c.901-15T>C Single submitter ornithine aminotransferase deficiency
- c.901-20G>A Single submitter ornithine aminotransferase deficiency
- p.Ala100= Single submitter ornithine aminotransferase deficiency
- p.Ala145= Single submitter ornithine aminotransferase deficiency
- p.Ala149= Single submitter ornithine aminotransferase deficiency
- p.Ala168= Single submitter ornithine aminotransferase deficiency
- p.Ala214= Single submitter ornithine aminotransferase deficiency
- p.Ala25= Single submitter ornithine aminotransferase deficiency
- p.Ala293= Single submitter ornithine aminotransferase deficiency
- p.Ala335= Single submitter ornithine aminotransferase deficiency
- p.Ala336= Single submitter ornithine aminotransferase deficiency
- p.Ala346= Single submitter ornithine aminotransferase deficiency
- p.Ala379= Single submitter ornithine aminotransferase deficiency
- p.Ala404= Single submitter ornithine aminotransferase deficiency
- p.Arg16= Single submitter ornithine aminotransferase deficiency
- p.Arg180= Single submitter ornithine aminotransferase deficiency
- p.Arg396= Single submitter ornithine aminotransferase deficiency
- p.Arg426= Single submitter ornithine aminotransferase deficiency
- p.Arg426Gln Single submitter Inborn genetic diseases
- p.Arg64= Single submitter ornithine aminotransferase deficiency
- p.Arg76= Single submitter ornithine aminotransferase deficiency
- p.Asn210= Single submitter ornithine aminotransferase deficiency
- p.Asn344= Single submitter ornithine aminotransferase deficiency
- p.Asn433= Single submitter ornithine aminotransferase deficiency
- p.Asn54= Single submitter ornithine aminotransferase deficiency
- p.Asn89= Single submitter ornithine aminotransferase deficiency
- p.Asn99= Single submitter ornithine aminotransferase deficiency
- p.Asp205= Single submitter ornithine aminotransferase deficiency
- p.Asp211= Single submitter ornithine aminotransferase deficiency
- p.Asp263= Single submitter ornithine aminotransferase deficiency
- p.Asp308= Single submitter ornithine aminotransferase deficiency
- p.Asp309= Single submitter ornithine aminotransferase deficiency
- p.Asp410= Single submitter ornithine aminotransferase deficiency
- p.Asp41Glu Single submitter Inborn genetic diseases
- p.Asp42= Single submitter ornithine aminotransferase deficiency
- p.Asp80= Single submitter ornithine aminotransferase deficiency
- p.Gln104= Single submitter ornithine aminotransferase deficiency
- p.Glu124= Single submitter ornithine aminotransferase deficiency
- p.Glu144= Single submitter
- p.Glu281= Single submitter ornithine aminotransferase deficiency
- p.Glu359= Single submitter ornithine aminotransferase deficiency
- p.Glu427= Single submitter ornithine aminotransferase deficiency
- p.Glu47= Single submitter ornithine aminotransferase deficiency
- p.Gly175= Single submitter ornithine aminotransferase deficiency
- p.Gly273= Single submitter ornithine aminotransferase deficiency
- p.Gly325= Single submitter ornithine aminotransferase deficiency
- p.Gly36= Single submitter ornithine aminotransferase deficiency
- p.Gly409= Single submitter ornithine aminotransferase deficiency
- p.Gly75= Single submitter ornithine aminotransferase deficiency
- p.His134= Single submitter ornithine aminotransferase deficiency
- p.His319= Single submitter ornithine aminotransferase deficiency
- p.His53= Single submitter ornithine aminotransferase deficiency
- p.His92= Single submitter ornithine aminotransferase deficiency
- p.Ile334= Single submitter ornithine aminotransferase deficiency
- p.Ile431= Single submitter ornithine aminotransferase deficiency
- p.Leu101= Single submitter ornithine aminotransferase deficiency
- p.Leu108= Single submitter ornithine aminotransferase deficiency
- p.Leu120= Single submitter ornithine aminotransferase deficiency
- p.Leu212= Single submitter ornithine aminotransferase deficiency
- p.Leu215= Single submitter ornithine aminotransferase deficiency
- p.Leu259= Single submitter ornithine aminotransferase deficiency
- p.Leu269= Single submitter ornithine aminotransferase deficiency
- p.Leu289= Single submitter ornithine aminotransferase deficiency
- p.Leu305= Single submitter ornithine aminotransferase deficiency
- p.Leu328= Single submitter ornithine aminotransferase deficiency
- p.Leu345= Single submitter ornithine aminotransferase deficiency
- p.Leu352= Single submitter ornithine aminotransferase deficiency
- p.Leu360= Single submitter ornithine aminotransferase deficiency
- p.Leu363= Single submitter ornithine aminotransferase deficiency
- p.Leu376= Single submitter ornithine aminotransferase deficiency
- p.Leu418= Single submitter ornithine aminotransferase deficiency
- p.Leu437= Single submitter ornithine aminotransferase deficiency
- p.Leu62= Single submitter ornithine aminotransferase deficiency
- p.Leu70= Single submitter ornithine aminotransferase deficiency
- p.Leu8= Single submitter ornithine aminotransferase deficiency
- p.Lys155= Single submitter ornithine aminotransferase deficiency
- p.Lys161= Single submitter ornithine aminotransferase deficiency
- p.Lys167= Single submitter ornithine aminotransferase deficiency
- p.Lys292= Single submitter ornithine aminotransferase deficiency
- p.Lys31= Single submitter ornithine aminotransferase deficiency
- p.Lys351= Single submitter ornithine aminotransferase deficiency
- p.Lys405= Single submitter ornithine aminotransferase deficiency
- p.Lys49= Single submitter ornithine aminotransferase deficiency
- p.Phe11= Single submitter ornithine aminotransferase deficiency
- p.Phe172= Single submitter ornithine aminotransferase deficiency
- p.Phe177= Single submitter ornithine aminotransferase deficiency
- p.Phe204= Single submitter ornithine aminotransferase deficiency
- p.Pro138= Single submitter ornithine aminotransferase deficiency
- p.Pro191= Single submitter ornithine aminotransferase deficiency
- p.Pro202= Single submitter ornithine aminotransferase deficiency
- p.Pro208= Single submitter ornithine aminotransferase deficiency
- p.Pro316= Single submitter ornithine aminotransferase deficiency
- p.Pro327= Single submitter ornithine aminotransferase deficiency
- p.Pro37= Single submitter ornithine aminotransferase deficiency
- p.Pro38= Single submitter ornithine aminotransferase deficiency
- p.Pro95= Single submitter ornithine aminotransferase deficiency
- p.Ser112= Single submitter ornithine aminotransferase deficiency
- p.Ser186= Single submitter ornithine aminotransferase deficiency
- p.Ser187= Single submitter ornithine aminotransferase deficiency
- p.Ser21= Single submitter ornithine aminotransferase deficiency
- p.Ser428= Single submitter ornithine aminotransferase deficiency
- p.Ser438= Single submitter ornithine aminotransferase deficiency
- p.Ser86= Single submitter ornithine aminotransferase deficiency
- p.Thr109= Single submitter ornithine aminotransferase deficiency
- p.Thr128= Single submitter ornithine aminotransferase deficiency
- p.Thr181= Single submitter ornithine aminotransferase deficiency
- p.Thr189= Single submitter ornithine aminotransferase deficiency
- p.Thr26= Single submitter ornithine aminotransferase deficiency
- p.Thr30= Single submitter ornithine aminotransferase deficiency
- p.Thr313= Single submitter ornithine aminotransferase deficiency
- p.Thr322= Single submitter ornithine aminotransferase deficiency
- p.Thr385= Single submitter ornithine aminotransferase deficiency
- p.Thr39= Single submitter ornithine aminotransferase deficiency
- p.Thr407= Single submitter ornithine aminotransferase deficiency
- p.Thr435= Single submitter ornithine aminotransferase deficiency
- p.Tyr194= Single submitter ornithine aminotransferase deficiency
- p.Tyr209= Single submitter ornithine aminotransferase deficiency
- p.Tyr280= Single submitter ornithine aminotransferase deficiency
- p.Tyr299= Single submitter ornithine aminotransferase deficiency
- p.Val105= Single submitter ornithine aminotransferase deficiency
- p.Val143= Single submitter ornithine aminotransferase deficiency
- p.Val160= Single submitter ornithine aminotransferase deficiency
- p.Val278= Single submitter ornithine aminotransferase deficiency
- p.Val288= Single submitter ornithine aminotransferase deficiency
- p.Val339= Single submitter ornithine aminotransferase deficiency
- p.Val34= Single submitter ornithine aminotransferase deficiency
- p.Val368= Single submitter ornithine aminotransferase deficiency
- p.Val393= Single submitter ornithine aminotransferase deficiency
- p.Val73= Single submitter ornithine aminotransferase deficiency
- p.Val88= Single submitter ornithine aminotransferase deficiency
Uncertain significance 209
- c.199+4C>T Multiple submitters ornithine aminotransferase deficiency
- c.199+5G>A Multiple submitters ornithine aminotransferase deficiency
- p.Ala173Thr Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Ala262Asp Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Ala270Val Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Ala379Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala61Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Arg154Cys Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Arg16Cys Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Arg16His Multiple submitters Inborn genetic diseases ⚠
- p.Arg331Leu Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asn118Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asn282His Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asn282Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asn326Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asn358Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asp205Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp205Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp263Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp387Gly Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asp389Tyr Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Asp410Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys394Arg Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Gly329Ala Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Ile287Thr Multiple submitters ornithine aminotransferase deficiency
- p.Ile429Thr Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Ile431Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu182Phe Multiple submitters Inborn genetic diseases
- p.Leu215Pro Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Leu403Pro Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Lys167Thr Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Lys434Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys434Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met201Ile Multiple submitters ornithine aminotransferase deficiency
- p.Phe131Leu Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Phe172Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Pro138Leu Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Pro202Leu Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Pro202Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Pro300Arg Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Pro95Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser15Ile Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Thr148Ser Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Thr39Ile Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Trp156Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp275Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp71Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr209Cys Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Tyr50Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val258Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val371Ile Multiple submitters ornithine aminotransferase deficiency ⚠
- p.Val419Leu Multiple submitters ornithine aminotransferase deficiency ⚠
- c.1014+6G>A Single submitter ornithine aminotransferase deficiency
- c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter ornithine aminotransferase deficiency
- c.200-3T>G Single submitter
- c.520+4T>C Single submitter ornithine aminotransferase deficiency
- c.648+13C>A Single submitter ornithine aminotransferase deficiency
- c.648+6T>G Single submitter ornithine aminotransferase deficiency
- c.772-4A>G Single submitter ornithine aminotransferase deficiency
- c.901-3C>T Single submitter ornithine aminotransferase deficiency
- c.-104T>C Single submitter ornithine aminotransferase deficiency
- c.-12T>G Single submitter ornithine aminotransferase deficiency
- c.-30+11G>A Single submitter ornithine aminotransferase deficiency
- c.-30+8C>T Single submitter ornithine aminotransferase deficiency
- c.-30G>T Single submitter
- c.-4C>G Single submitter ornithine aminotransferase deficiency
- c.-60C>T Single submitter ornithine aminotransferase deficiency
- c.-66A>G Single submitter ornithine aminotransferase deficiency
- c.-83A>G Single submitter ornithine aminotransferase deficiency
- c.*189A>G Single submitter ornithine aminotransferase deficiency
- c.*275A>G Single submitter ornithine aminotransferase deficiency
- c.*311T>C Single submitter ornithine aminotransferase deficiency
- c.*35C>T Single submitter ornithine aminotransferase deficiency
- c.*378A>G Single submitter ornithine aminotransferase deficiency
- c.*486A>G Single submitter ornithine aminotransferase deficiency
- c.*561G>A Single submitter ornithine aminotransferase deficiency
- c.*61A>G Single submitter ornithine aminotransferase deficiency
- p.Ala12Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala173= Single submitter ornithine aminotransferase deficiency
- p.Ala214Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala333Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala335Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala346Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala349Glu Single submitter Inborn genetic diseases ⚠
- p.Ala349Pro Single submitter ornithine aminotransferase deficiency ⚠
- p.Ala415Val Single submitter Inborn genetic diseases ⚠
- p.Arg331Gln Single submitter ornithine aminotransferase deficiency ⚠
- p.Arg396Gln Single submitter ornithine aminotransferase deficiency ⚠
- p.Arg396Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Arg413Gly Single submitter ⚠
- p.Asn132Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Asn400Tyr Single submitter ornithine aminotransferase deficiency ⚠
- p.Asn89Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Asn99Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp195Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp205Ala Single submitter Inborn genetic diseases ⚠
- p.Asp205Thr Single submitter ornithine aminotransferase deficiency
- p.Asp211Glu Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp308Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp387His Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp389Gly Single submitter ornithine aminotransferase deficiency ⚠
- p.Asp42Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Gln266Lys Single submitter ornithine aminotransferase deficiency ⚠
- p.Gln35Arg Single submitter Inborn genetic diseases ⚠
- p.Gln90Glu Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu122Lys Single submitter Inborn genetic diseases ⚠
- p.Glu124Asp Single submitter ⚠
- p.Glu264Asp Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu338= Single submitter ornithine aminotransferase deficiency
- p.Glu343Gln Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu347Lys Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu359Gly Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu359Val Single submitter Inborn genetic diseases ⚠
- p.Glu422Lys Single submitter Inborn genetic diseases ⚠
- p.Glu424Asp Single submitter ornithine aminotransferase deficiency ⚠
- p.Glu427Lys Single submitter Inborn genetic diseases ⚠
- p.Glu63Gly Single submitter ornithine aminotransferase deficiency ⚠
- p.Gly17Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.Gly291Glu Single submitter ⚠
- p.Gly296Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.Gly324Ser Single submitter Inborn genetic diseases ⚠
- p.Gly375Arg Single submitter ⚠
- p.Gly401Glu Single submitter ⚠
- p.His134Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.His319Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.His408Asp Single submitter ornithine aminotransferase deficiency ⚠
- p.His53Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.His56Tyr Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile170Thr Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile207Phe Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile382Thr Single submitter ⚠
- p.Ile411Val Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile429Val Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile432Phe Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile68Val Single submitter ornithine aminotransferase deficiency ⚠
- p.Ile97Val Single submitter ⚠
- p.Leu259Val Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu289Phe Single submitter Inborn genetic diseases ⚠
- p.Leu312Met Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu352Phe Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu352Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu356Phe Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu395Arg Single submitter ornithine aminotransferase deficiency ⚠
- p.Leu62Pro Single submitter ⚠
- p.Leu82Arg Single submitter Inborn genetic diseases ⚠
- p.Lys135Arg Single submitter Inborn genetic diseases ⚠
- p.Lys135Asn Single submitter Inborn genetic diseases ⚠
- p.Lys165Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Lys32Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Lys351Asn Single submitter Inborn genetic diseases ⚠
- p.Lys362Glu Single submitter ornithine aminotransferase deficiency ⚠
- p.Lys421Glu Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro202Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro285Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro364Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro37Ala Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro37Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro38Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Pro59Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser103Gly Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser183Cys Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser193Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser20Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser438Thr Single submitter ornithine aminotransferase deficiency ⚠
- p.Ser84Cys Single submitter Inborn genetic diseases ⚠
- p.Ter440Trp Single submitter ornithine aminotransferase deficiency
- p.Thr189Ala Single submitter ornithine aminotransferase deficiency ⚠
- p.Thr267Ala Single submitter ornithine aminotransferase deficiency ⚠
- p.Thr26Ile Single submitter Inborn genetic diseases ⚠
- p.Thr322Ile Single submitter ornithine aminotransferase deficiency ⚠
- p.Thr435Asn Single submitter ornithine aminotransferase deficiency ⚠
- p.Trp178Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Trp178Ser Single submitter ornithine aminotransferase deficiency ⚠
- p.Tyr158Cys Single submitter ⚠
- p.Tyr280Cys Single submitter ornithine aminotransferase deficiency ⚠
- p.Val105Met Single submitter Inborn genetic diseases ⚠
- p.Val143Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Val160Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Val171Ile Single submitter ornithine aminotransferase deficiency ⚠
- p.Val301Leu Single submitter ornithine aminotransferase deficiency ⚠
- p.Val301Met Single submitter ornithine aminotransferase deficiency ⚠
- p.Val304Glu Single submitter ornithine aminotransferase deficiency ⚠
- p.Val304Gly Single submitter ornithine aminotransferase deficiency ⚠
- p.Val34Ile Single submitter Inborn genetic diseases ⚠
- c.*3G>C No assertion criteria ornithine aminotransferase deficiency
- p.Arg413= No assertion criteria ornithine aminotransferase deficiency
- p.Asn117Asp No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Asp80Glu No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Glu342Lys No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Gly157Ser No assertion criteria ornithine aminotransferase deficiency ⚠
- p.His53Gln No assertion criteria ornithine aminotransferase deficiency ⚠
- p.His94Tyr No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Ile207Val No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Ile310= No assertion criteria ornithine aminotransferase deficiency
- p.Ile43Ser No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Leu328Val No assertion criteria inherited retinal dystrophy ⚠
- p.Lys161Asn No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Lys167Arg No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Lys315= No assertion criteria ornithine aminotransferase deficiency
- p.Phe2Leu No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Pro416Leu No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Ser15Cys No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Thr109Ile No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Trp391Ser No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Tyr194His No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Tyr323His No assertion criteria ornithine aminotransferase deficiency ⚠
- p.Val98Ala No assertion criteria ⚠