MAOA — 254 ClinVar variants
All ClinVar germline MAOA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 13 Conflicting · 8 Benign · 3 Benign/Likely benign · 75 Likely benign · 135 Uncertain significance
Full MAOA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MAOA p.Val244Ile
Likely pathogenic
Single submitter
Brunner syndrome
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAOA p.Asn212Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MAOA p.Asn271Ser
Conflicting
Single submitter
Brunner syndrome
-
MAOA p.Lys311Asn
Conflicting
Single submitter
Inborn genetic diseases
-
MAOA p.Lys520Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MAOA p.Met416Ile
Conflicting
Single submitter
Inborn genetic diseases
-
MAOA p.Tyr100His
Conflicting
Single submitter
Brunner syndrome
-
MAOA p.Val247Ile
Conflicting
Single submitter
Inborn genetic diseases
-
MAOA p.Val427Met
Conflicting
Single submitter
Brunner syndrome
Predictors lean, ClinVar uncertain 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAOA p.Ala111Thr
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Arg109Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAOA p.Asn125Ser
Uncertain significance
Multiple submitters
Brunner syndrome
- MAOA p.Gln237Leu Uncertain significance Multiple submitters
-
MAOA p.Glu58Lys
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Glu5Gln
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Ile256Val
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Ile304Val
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Leu361Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAOA p.Lys316Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAOA p.Pro347Ser
Uncertain significance
Multiple submitters
MAOA-related disorder
-
MAOA p.Ser94Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAOA p.Val269Ile
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Val517Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAOA p.Ala142Ser Uncertain significance Single submitter
- MAOA p.Ala191Val Uncertain significance Single submitter
-
MAOA p.Ala483Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Ala7Val Uncertain significance Single submitter
- MAOA p.Arg360Gln Uncertain significance Single submitter
- MAOA p.Arg424Cys Uncertain significance Single submitter
-
MAOA p.Arg454Gln
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Arg526Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Arg79Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Arg96His
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Asn133Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Asn181Ser Uncertain significance Single submitter
- MAOA p.Asn212Ile Uncertain significance Single submitter
-
MAOA p.Asn241Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Asp141Asn
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Asp150Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Asp319Ala Uncertain significance Single submitter
-
MAOA p.Asp480Glu
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Gln384Pro Uncertain significance Single submitter
-
MAOA p.Gln418Arg
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Glu185Asp Uncertain significance Single submitter
- MAOA p.Glu216Gly Uncertain significance Single submitter
- MAOA p.Glu34Gln Uncertain significance Single submitter
-
MAOA p.Glu436Lys
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Glu87Gly
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Glu87Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Gly235Arg
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Gly443Ser Uncertain significance Single submitter
-
MAOA p.Gly462Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Gly500Ser Uncertain significance Single submitter
- MAOA p.Gly50Arg Uncertain significance Single submitter
-
MAOA p.His246Asn
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.His246Gln Uncertain significance Single submitter
-
MAOA p.His365Arg
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.His59Arg
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Ile119Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Ile131Val
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Ile138Phe Uncertain significance Single submitter
-
MAOA p.Ile368Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Ile423Val Uncertain significance Single submitter
-
MAOA p.Ile505Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Ile55Leu
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Ile55Val
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Ile86Val Uncertain significance Single submitter
- MAOA p.Leu122Met Uncertain significance Single submitter
- MAOA p.Leu32Ser Uncertain significance Single submitter
-
MAOA p.Leu376Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Leu40Val Uncertain significance Single submitter
-
MAOA p.Leu523Phe
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Lys151Ile Uncertain significance Single submitter
- MAOA p.Lys317Gln Uncertain significance Single submitter
- MAOA p.Lys440Glu Uncertain significance Single submitter
-
MAOA p.Lys522Glu
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Pro299Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Pro482Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Pro482Ser Uncertain significance Single submitter
- MAOA p.Thr276Asn Uncertain significance Single submitter
- MAOA p.Thr408Lys Uncertain significance Single submitter
-
MAOA p.Thr408Met
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Thr487Pro
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Thr489Asn Uncertain significance Single submitter
-
MAOA p.Thr509Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Tyr106Phe Uncertain significance Single submitter
- MAOA p.Val189Met Uncertain significance Single submitter
-
MAOA p.Val37Ile
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Val427Leu
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Val473Ala
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Val481Ile
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Val517Leu
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Val63Ile Uncertain significance Single submitter
-
MAOA p.Ala456Asp
Uncertain significance
No assertion criteria
MAOA-related disorder
-
MAOA p.Ile335Val
Uncertain significance
No assertion criteria
intellectual disability
Predictors split 29
The independent predictors disagree with each other — read with care.
-
MAOA p.Arg45Gln
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Asp46Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAOA p.Val63Ala
Uncertain significance
Multiple submitters
Brunner syndrome
-
MAOA p.Ala146Val
Likely benign
Single submitter
Inborn genetic diseases
- MAOA p.Arg129Trp Uncertain significance Single submitter
-
MAOA p.Arg217Gln
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Arg217Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Arg229Gln
Uncertain significance
Single submitter
intellectual disability
- MAOA p.Arg229Trp Uncertain significance Single submitter
-
MAOA p.Arg297Gln
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Arg79Cys
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Arg79His Uncertain significance Single submitter
-
MAOA p.Asp248Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Cys165Ser Uncertain significance Single submitter
- MAOA p.Glu159Gly Uncertain significance Single submitter
-
MAOA p.Glu385Lys
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Glu399Val
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Gly464Arg
Uncertain significance
Single submitter
Brunner syndrome
-
MAOA p.Ile161Thr
Conflicting
Single submitter
Inborn genetic diseases
- MAOA p.Ile295Met Uncertain significance Single submitter
-
MAOA p.Leu97Pro
Uncertain significance
Single submitter
Brunner syndrome
- MAOA p.Lys199Asn Uncertain significance Single submitter
- MAOA p.Lys318Thr Uncertain significance Single submitter
-
MAOA p.Met134Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAOA p.Phe208Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAOA p.Ser499Cys Uncertain significance Single submitter
- MAOA p.Thr204Ala Uncertain significance Single submitter
- MAOA p.Thr439Ala Uncertain significance Single submitter
-
MAOA p.Val189Leu
Conflicting
Single submitter
Brunner syndrome
All MAOA variants
Pathogenic 7
- c.1263-2A>G Single submitter
- p.Gly405fs Single submitter Brunner syndrome
- p.Leu97fs Single submitter Brunner syndrome
- p.Lys395Ter Single submitter Inborn genetic diseases
- p.Ser251fs Single submitter Brunner syndrome
- p.Cys266Phe No assertion criteria Brunner syndrome
- p.Gln296Ter No assertion criteria Brunner syndrome
Pathogenic/Likely pathogenic 1
- p.Arg45Trp Multiple submitters Brunner syndrome
Likely pathogenic 12
- c.1052+1G>A Single submitter Inborn genetic diseases
- c.73+1G>C Single submitter Brunner syndrome
- c.796-1G>T Single submitter intellectual disability
- p.Ala28fs Single submitter Inborn genetic diseases
- p.Arg56fs Single submitter
- p.Asp359fs Single submitter Brunner syndrome
- p.Gln474Ter Single submitter Brunner syndrome
- p.Gln4fs Single submitter Brunner syndrome
- p.Leu78fs Single submitter Brunner syndrome
- p.Lys199Ter Single submitter Brunner syndrome
- p.Val244Ile Single submitter Brunner syndrome ⚠
- p.Glu394Gln No assertion criteria Brunner syndrome
Conflicting classifications of pathogenicity 13
- c.1438-3T>C Single submitter Brunner syndrome
- c.955+4G>A Single submitter Brunner syndrome
- p.Asn212Ser Single submitter Inborn genetic diseases ⚠
- p.Asn271Ser Single submitter Brunner syndrome ⚠
- p.Ile161Thr Single submitter Inborn genetic diseases ⚠
- p.Lys311Asn Single submitter Inborn genetic diseases ⚠
- p.Lys520Arg Single submitter Inborn genetic diseases ⚠
- p.Met416Ile Single submitter Inborn genetic diseases ⚠
- p.Pro275= Single submitter Inborn genetic diseases
- p.Tyr100His Single submitter Brunner syndrome ⚠
- p.Val189Leu Single submitter Brunner syndrome ⚠
- p.Val247Ile Single submitter Inborn genetic diseases ⚠
- p.Val427Met Single submitter Brunner syndrome ⚠
Benign 8
- c.306+16C>A Multiple submitters Brunner syndrome
- p.Arg129= Multiple submitters Inborn genetic diseases
- p.Arg172Gln Multiple submitters Brunner syndrome
- p.Arg297= Multiple submitters Inborn genetic diseases
- p.Asp470= Multiple submitters Inborn genetic diseases
- c.1165-13C>T Single submitter Brunner syndrome
- c.1165-18T>G Single submitter Brunner syndrome
- p.Ala272= Single submitter Brunner syndrome
Benign/Likely benign 3
- c.1263-16C>G Multiple submitters Brunner syndrome
- c.1374+19G>A Multiple submitters Brunner syndrome
- c.168+11_168+15del Multiple submitters Brunner syndrome
Likely benign 75
- c.1052+14G>A Multiple submitters Brunner syndrome
- c.1165-11C>T Multiple submitters Brunner syndrome
- c.1262+18C>T Multiple submitters Brunner syndrome
- c.1262+19G>A Multiple submitters Brunner syndrome
- c.412-6C>G Multiple submitters Brunner syndrome
- p.Ala483= Multiple submitters Inborn genetic diseases
- p.Gly110= Multiple submitters Brunner syndrome
- p.Gly85= Multiple submitters Brunner syndrome
- p.Ser227= Multiple submitters Inborn genetic diseases
- p.Thr258= Multiple submitters Brunner syndrome
- p.Thr509Ile Multiple submitters Inborn genetic diseases
- p.Val244= Multiple submitters Brunner syndrome
- c.1052+17T>G Single submitter Brunner syndrome
- c.1053-10C>G Single submitter Brunner syndrome
- c.1106+15C>T Single submitter Brunner syndrome
- c.1164+7A>C Single submitter Brunner syndrome
- c.1262+6A>G Single submitter Brunner syndrome
- c.1262+7C>T Single submitter Brunner syndrome
- c.1375-14T>C Single submitter Brunner syndrome
- c.1375-17T>C Single submitter Brunner syndrome
- c.1437+11T>C Single submitter Brunner syndrome
- c.1437+14C>T Single submitter Brunner syndrome
- c.1438-19T>C Single submitter
- c.306+18C>A Single submitter Brunner syndrome
- c.307-18T>C Single submitter Brunner syndrome
- c.307-19G>C Single submitter Brunner syndrome
- c.412-13C>T Single submitter Brunner syndrome
- c.412-20G>A Single submitter Brunner syndrome
- c.503+14A>T Single submitter Brunner syndrome
- c.646-13C>A Single submitter Brunner syndrome
- c.646-16C>G Single submitter
- c.646-4G>A Single submitter
- c.73+12C>G Single submitter
- c.73+19G>C Single submitter Brunner syndrome
- c.74-4T>G Single submitter Brunner syndrome
- c.74-6C>T Single submitter Brunner syndrome
- c.74-9T>A Single submitter Brunner syndrome
- c.795+20A>C Single submitter Brunner syndrome
- c.796-13G>C Single submitter
- c.796-14TG[3] Single submitter Brunner syndrome
- c.796-15T>G Single submitter Brunner syndrome
- c.796-9G>A Single submitter Brunner syndrome
- c.955+18A>C Single submitter
- c.956-8T>G Single submitter Brunner syndrome
- p.Ala10= Single submitter Brunner syndrome
- p.Ala146Val Single submitter Inborn genetic diseases ⚠
- p.Ala433= Single submitter Brunner syndrome
- p.Ala483Glu Single submitter Inborn genetic diseases
- p.Ala483Val Single submitter Inborn genetic diseases
- p.Arg284Lys Single submitter Inborn genetic diseases
- p.Arg454= Single submitter Brunner syndrome
- p.Arg526Trp Single submitter
- p.Cys201= Single submitter Inborn genetic diseases
- p.Cys321= Single submitter
- p.Gln401= Single submitter Brunner syndrome
- p.Glu5= Single submitter Brunner syndrome
- p.Gly135= Single submitter Inborn genetic diseases
- p.Gly405= Single submitter Brunner syndrome
- p.Gly515= Single submitter Brunner syndrome
- p.His246= Single submitter Brunner syndrome
- p.Ile373= Single submitter Brunner syndrome
- p.Leu192= Single submitter Brunner syndrome
- p.Leu234= Single submitter Brunner syndrome
- p.Leu277= Single submitter Brunner syndrome
- p.Leu31= Single submitter Brunner syndrome
- p.Leu463= Single submitter Brunner syndrome
- p.Lys311= Single submitter Brunner syndrome
- p.Pro496= Single submitter Brunner syndrome
- p.Ser94= Single submitter
- p.Thr437= Single submitter
- p.Thr467= Single submitter Brunner syndrome
- p.Thr52= Single submitter Brunner syndrome
- p.Tyr268= Single submitter Brunner syndrome
- p.Tyr62= Single submitter Brunner syndrome
- c.168+6T>C No assertion criteria intellectual disability
Uncertain significance 135
- c.1262+3A>G Multiple submitters
- c.796-10T>C Multiple submitters Brunner syndrome
- p.Ala111Thr Multiple submitters Brunner syndrome ⚠
- p.Arg109Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg45Gln Multiple submitters Brunner syndrome ⚠
- p.Asn125Ser Multiple submitters Brunner syndrome ⚠
- p.Asp46Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln237Leu Multiple submitters ⚠
- p.Glu58Lys Multiple submitters Brunner syndrome ⚠
- p.Glu5Gln Multiple submitters Brunner syndrome ⚠
- p.Ile256Val Multiple submitters Brunner syndrome ⚠
- p.Ile304Val Multiple submitters Brunner syndrome ⚠
- p.Leu361Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys316Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met134Ile Multiple submitters Inborn genetic diseases
- p.Pro347Ser Multiple submitters MAOA-related disorder ⚠
- p.Ser478Ter Multiple submitters Brunner syndrome
- p.Ser94Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val269Ile Multiple submitters Brunner syndrome ⚠
- p.Val517Met Multiple submitters Inborn genetic diseases ⚠
- p.Val63Ala Multiple submitters Brunner syndrome ⚠
- c.1052+4G>C Single submitter Brunner syndrome
- c.1437+4A>T Single submitter Brunner syndrome
- c.168+3A>G Single submitter Inborn genetic diseases
- c.411+12G>A Single submitter Brunner syndrome
- c.504-9T>G Single submitter
- c.645+13T>A Single submitter Brunner syndrome
- c.795+1G>A Single submitter
- c.-566C>T Single submitter
- p.Ala142Ser Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala483Lys Single submitter
- p.Ala483Thr Single submitter Inborn genetic diseases ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Arg217Gln Single submitter Brunner syndrome ⚠
- p.Arg217Trp Single submitter Inborn genetic diseases ⚠
- p.Arg229Gln Single submitter intellectual disability ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg297Gln Single submitter Brunner syndrome ⚠
- p.Arg297His Single submitter Brunner syndrome
- p.Arg360Gln Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg454Gln Single submitter Brunner syndrome ⚠
- p.Arg526Gln Single submitter Inborn genetic diseases ⚠
- p.Arg79Cys Single submitter Brunner syndrome ⚠
- p.Arg79Gly Single submitter Inborn genetic diseases ⚠
- p.Arg79His Single submitter ⚠
- p.Arg96His Single submitter Brunner syndrome ⚠
- p.Asn133Lys Single submitter Inborn genetic diseases ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asn212Ile Single submitter ⚠
- p.Asn241Lys Single submitter Inborn genetic diseases ⚠
- p.Asp141Asn Single submitter Brunner syndrome ⚠
- p.Asp150Asn Single submitter Inborn genetic diseases ⚠
- p.Asp248Glu Single submitter Inborn genetic diseases ⚠
- p.Asp319Ala Single submitter ⚠
- p.Asp480Glu Single submitter Brunner syndrome ⚠
- p.Cys165Ser Single submitter ⚠
- p.Gln384Pro Single submitter ⚠
- p.Gln418Arg Single submitter Brunner syndrome ⚠
- p.Glu137= Single submitter
- p.Glu159Gly Single submitter ⚠
- p.Glu185Asp Single submitter ⚠
- p.Glu216Gly Single submitter ⚠
- p.Glu34Gln Single submitter ⚠
- p.Glu385Lys Single submitter Brunner syndrome ⚠
- p.Glu399Val Single submitter Brunner syndrome ⚠
- p.Glu436Lys Single submitter Brunner syndrome ⚠
- p.Glu87Gly Single submitter Brunner syndrome ⚠
- p.Glu87Lys Single submitter Inborn genetic diseases ⚠
- p.Gly235Arg Single submitter Brunner syndrome ⚠
- p.Gly443Ser Single submitter ⚠
- p.Gly462Asp Single submitter Inborn genetic diseases ⚠
- p.Gly464Arg Single submitter Brunner syndrome ⚠
- p.Gly500Ser Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.His246Asn Single submitter Brunner syndrome ⚠
- p.His246Gln Single submitter ⚠
- p.His365Arg Single submitter Brunner syndrome ⚠
- p.His59Arg Single submitter Brunner syndrome ⚠
- p.Ile119Val Single submitter Inborn genetic diseases ⚠
- p.Ile131Val Single submitter Brunner syndrome ⚠
- p.Ile138Phe Single submitter ⚠
- p.Ile19Thr Single submitter Brunner syndrome
- p.Ile295Met Single submitter ⚠
- p.Ile368Met Single submitter Inborn genetic diseases ⚠
- p.Ile423Val Single submitter ⚠
- p.Ile471Leu Single submitter Brunner syndrome
- p.Ile505Thr Single submitter Inborn genetic diseases ⚠
- p.Ile55Leu Single submitter Brunner syndrome ⚠
- p.Ile55Val Single submitter Brunner syndrome ⚠
- p.Ile86Val Single submitter ⚠
- p.Leu122Met Single submitter ⚠
- p.Leu32Ser Single submitter ⚠
- p.Leu337Phe Single submitter
- p.Leu376Phe Single submitter Inborn genetic diseases ⚠
- p.Leu40Val Single submitter ⚠
- p.Leu523Phe Single submitter Brunner syndrome ⚠
- p.Leu97Pro Single submitter Brunner syndrome ⚠
- p.Lys151Ile Single submitter ⚠
- p.Lys199Asn Single submitter ⚠
- p.Lys199Thr Single submitter Inborn genetic diseases
- p.Lys317Gln Single submitter ⚠
- p.Lys318Thr Single submitter ⚠
- p.Lys440Glu Single submitter ⚠
- p.Lys522Glu Single submitter Brunner syndrome ⚠
- p.Met134Val Single submitter Inborn genetic diseases ⚠
- p.Met1Arg Single submitter Brunner syndrome
- p.Met1Ile Single submitter Brunner syndrome
- p.Met1Thr Single submitter Brunner syndrome
- p.Phe208Leu Single submitter Inborn genetic diseases ⚠
- p.Pro299Gln Single submitter Inborn genetic diseases ⚠
- p.Pro413Ser Single submitter
- p.Pro482Ala Single submitter Inborn genetic diseases ⚠
- p.Pro482Ser Single submitter ⚠
- p.Ser499Cys Single submitter ⚠
- p.Thr204Ala Single submitter ⚠
- p.Thr276Asn Single submitter ⚠
- p.Thr408Lys Single submitter ⚠
- p.Thr408Met Single submitter Brunner syndrome ⚠
- p.Thr439Ala Single submitter ⚠
- p.Thr487Pro Single submitter Brunner syndrome ⚠
- p.Thr489Asn Single submitter ⚠
- p.Thr509Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr106Phe Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val37Ile Single submitter Brunner syndrome ⚠
- p.Val427Leu Single submitter Brunner syndrome ⚠
- p.Val473Ala Single submitter Brunner syndrome ⚠
- p.Val481Ile Single submitter Brunner syndrome ⚠
- p.Val517Leu Single submitter Brunner syndrome ⚠
- p.Val63Ile Single submitter ⚠
- p.Ala456Asp No assertion criteria MAOA-related disorder ⚠
- p.Ile335Val No assertion criteria intellectual disability ⚠