Sugi Variant

Sugi Variant/DDC

DDC — 650 ClinVar variants

All ClinVar germline DDC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

39 Pathogenic · 23 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 35 Conflicting · 43 Benign · 11 Benign/Likely benign · 251 Likely benign · 217 Uncertain significance

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

⚑ Evidence disagreements 194

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 42

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

All DDC variants

Pathogenic 39

  • c.714+4A>T Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg7Ter Multiple submitters DDC-related disorder
  • p.Gly102Ser Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Ile433fs Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Ser250Phe Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.1021+1G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.435+8518_435+8519del Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+1G>A Single submitter
  • p.Arg412fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg462Pro Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp339fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln168Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln176Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln190fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln190Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln28Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu196Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu292fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His70Tyr Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu222Pro Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu255Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu322Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Lys130Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met362_Trp363insTer Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met89fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro81fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser457fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser85Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr161fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Trp121Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Trp267Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Trp315Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Tyr16_Met17delinsTer Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Tyr332Cys Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Tyr332Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Tyr369Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Cys410Gly No assertion criteria aromatic L-amino acid decarboxylase deficiency
  • p.Phe309Leu No assertion criteria aromatic L-amino acid decarboxylase deficiency
  • p.Ser147Arg No assertion criteria aromatic L-amino acid decarboxylase deficiency

Pathogenic/Likely pathogenic 23

  • c.1041+1G>A Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.201+5G>C Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.316del Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Ala275Thr Multiple submitters DDC-related disorder
  • p.Ala91Val Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg160Trp Multiple submitters DDC-related disorder
  • p.Arg347Gln Multiple submitters DDC-related disorder
  • p.Arg358His Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg412Trp Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg447Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg453Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp59Asn Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Gln375Ter Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Gly123Arg Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Gly96Arg Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Phe237Ser Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro352fs Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro43fs Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro47His Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro81Leu Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro87Leu Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Ser416fs Multiple submitters Inborn genetic diseases
  • p.Thr69Met Multiple submitters aromatic L-amino acid decarboxylase deficiency

Likely pathogenic 31

  • c.201+1G>C Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.1022-1G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+1G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-2A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1141-2A>G Single submitter DDC-related disorder
  • c.435+2T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.571-2A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+1G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.782-2A>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+1G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+2T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-1G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg347Gly Single submitter DDC-related disorder
  • p.Arg39Pro Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Cys100Ser Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Cys451Phe Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Cys95Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu292= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gly23Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly67Val Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile24Thr Single submitter
  • p.Leu38Pro Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met362fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro129Ser Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser147Ile Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr454fs Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Trp105Ter Single submitter
  • p.Tyr79Cys Single submitter DDC-related disorder
  • c.571-3C>G No assertion criteria aromatic L-amino acid decarboxylase deficiency
  • p.Cys261Phe No assertion criteria aromatic L-amino acid decarboxylase deficiency
  • p.Gly354Ser No assertion criteria aromatic L-amino acid decarboxylase deficiency ⚠

Conflicting classifications of pathogenicity 35

  • c.1041+12A>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+5G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+11G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-5G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-6C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.435+6G>T Single submitter Inborn genetic diseases
  • c.436-6A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala159Val Single submitter DDC-related disorder ⚠
  • p.Ala272= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala3Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala45= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala45Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala78Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg285Trp Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg347Trp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg447His Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg479Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asn2= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asn308Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gln176Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Glu25Lys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly354= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His348= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu122= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu406= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met239Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Phe77Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser108Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser108Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser149Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser188= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Trp121Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Tyr274= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val60Ala Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val60Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠

Benign 43

Benign/Likely benign 11

  • c.1041+8G>A Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.436-12T>C Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.436-16C>T Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg462Gln Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Asp32= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Glu61Asp Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Met17Val Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Met217Val Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Met239Ile Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro210Leu Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val184Leu Multiple submitters aromatic L-amino acid decarboxylase deficiency

Likely benign 251

  • c.1243-138C>T Multiple submitters
  • c.1243-20C>T Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.201+37A>G Multiple submitters
  • c.435+61C>T Multiple submitters
  • c.571-19T>G Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.876+129A>G Multiple submitters
  • c.876+15C>T Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.944+2399G>A Multiple submitters
  • c.944+63G>A Multiple submitters
  • c.-28-56C>T Multiple submitters
  • p.Ala158= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Ala170= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg393= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Asp51= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Glu49= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.His459= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Leu234= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Lys205= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Phe77= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Pro87= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Thr52= Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • c.1021+122C>A Single submitter
  • c.1021+12G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1021+12G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1021+14C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1021+16G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1021+7T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1021+9T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1022-11C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1022-17_1022-16del Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1022-6C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1022-7T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+13T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+15C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+20G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+9G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-111G>A Single submitter
  • c.1042-16T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-16T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-291G>T Single submitter
  • c.1042-7A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-9T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1140+17T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1140+8T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1141-15C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1141-16C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1141-18T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1141-6T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+10C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+11A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+15A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+18C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+20A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+7C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+9A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-17T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-4C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-6C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-7C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-9T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.201+11A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.201+7G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.201+8T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.201+8T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-10T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-18C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-27C>T Single submitter
  • c.202-5T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-7C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-8C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+10C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+10C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+11G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+13A>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+14T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.315+260T>A Single submitter
  • c.316-11C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-15C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-18T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-4A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-5G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-7A>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-8C>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-8C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.316-8C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.435+15G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.435+19G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.436-13C>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.436-14T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.436-17C>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.436-18A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.570+14G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.570+16G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.570+18G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.570+284A>G Single submitter
  • c.571-13G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.571-18C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.571-5T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+14C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+17T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+18T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+19G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+8C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+8C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+9G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.715-11_715-10del Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.715-12T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.715-7C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+10C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+10C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+11G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+8T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+8T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+9C>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.781+9C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.782-283A>G Single submitter
  • c.782-6C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+11C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+16G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+20T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.876+8C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-10T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-10T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-12G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-13T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-15C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.877-4G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+10C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+12T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+18C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+19A>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.944+7T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-13T>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-13T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-15G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-20C>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.945-252C>G Single submitter
  • c.945-8A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.-28-201C>G Single submitter
  • c.*23C>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala106= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala131= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala169= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala177= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala219= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala231= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala273= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala278= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala313= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala44= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala46= Single submitter
  • p.Ala463= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala471= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala472= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala477= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala91= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg160= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg228= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg285= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg358= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg39= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg453= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg462= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asn300= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asn417= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asn428= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asn58= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp229= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp395= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp473= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp55= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp59= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Asp92= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Cys100= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Cys95= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln176= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln48= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu224= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu25= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu264= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu389= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Glu456= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gly233= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gly341= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gly415= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gly96= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His269= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His286= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His335= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His381= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.His72= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile101= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile201= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile209= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile378= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile56= Single submitter
  • p.Ile57= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu153= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu157= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu174= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu183= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu200= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu222= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu268= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu322= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu342= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu38= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu435= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu470= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu475= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Lys11= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Lys130= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Lys263= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Lys334= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Phe215= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Phe237= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Phe284= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Phe388= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro210= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro301= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro35= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro40= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro43= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro437= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro81= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser104= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser187= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser194= Single submitter
  • p.Ser385= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ser85= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr152= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr161= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr242= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr247= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr323= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr454= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Thr69= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Tyr16= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val117= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val14= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val143= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val204= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val240= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val257= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val29= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val382= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val402= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val409= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val419= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val455= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val60= Single submitter aromatic L-amino acid decarboxylase deficiency

Uncertain significance 217

  • p.Ala45Val Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg160Gln Multiple submitters aromatic L-amino acid decarboxylase deficiency
  • p.Arg218Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg285Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg379Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg379His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg393Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg393Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg397Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg397His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg39Trp Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg426Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg453His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg462Trp Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg7Gln Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp189His Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp59His Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Cys281Phe Multiple submitters ⚠
  • p.Gln176Lys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Glu196Lys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly142Arg Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly258Ser Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly415Asp Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile378Val Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Leu406Gln Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Leu41Met Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Lys432Asn Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met89Val Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser84Asn Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Thr152Asn Multiple submitters Inborn genetic diseases
  • p.Thr454Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr52Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr369Cys Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val240Phe Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val291Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val29Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val436Ala Multiple submitters aromatic L-amino acid decarboxylase deficiency ⚠
  • c.1041+3A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+6_1041+9del Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1041+6T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1042-10T>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1242+5G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.1243-10A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.201+4A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.202-3C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.435+5G>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.570+5G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.571-3C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.714+255C>A Single submitter
  • c.714+3A>G Single submitter
  • c.714+4A>G Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.715-3T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.782-3T>A Single submitter
  • c.782-5T>G Single submitter Inborn genetic diseases
  • c.944+2412A>C Single submitter
  • c.945-14T>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.-29+4222C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.-29+4263C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.-29+4264G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.*113C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.*155C>T Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.*274G>A Single submitter aromatic L-amino acid decarboxylase deficiency
  • c.*36G>C Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala106Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala106Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala131Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala137Asp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala155Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala155Val Single submitter Inborn genetic diseases
  • p.Ala178Asp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala185Thr Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala18Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala208Asp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala216Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala225Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala225Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala241Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala273Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala325Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala422Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala422Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala471Val Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ala78Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ala91_Leu94dup Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg166Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg166Trp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg218Ser Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg228Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg27Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg27His Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg319Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg356Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg358Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg393His Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg39Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg412Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg447Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg476Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg476Ter Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Arg479Lys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Arg479Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asn134His Single submitter Inborn genetic diseases ⚠
  • p.Asn253Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asn298Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp189Asn Single submitter ⚠
  • p.Asp229His Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp265Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp295Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp32Tyr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp395Glu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp442Tyr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp473Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp51Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Asp59Tyr Single submitter ⚠
  • p.Asp92Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys111Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Cys401Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gln176Glu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gln190Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gln190Leu Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln350Glu Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Gln394Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Glu127Lys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Glu196Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Glu456Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly138Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly140= Single submitter
  • p.Gly140Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly140Glu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly140Val Single submitter ⚠
  • p.Gly141Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly203Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly233Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly23Asp Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly258Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly276Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly354Ala Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly415Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly67Glu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Gly96Trp Single submitter ⚠
  • p.His165Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His192Tyr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His286Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His337Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His337Leu Single submitter Inborn genetic diseases ⚠
  • p.His337Tyr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His348Tyr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.His459Gln Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Ile164Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile179Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile343Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile427Arg Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile433Val Single submitter Inborn genetic diseases ⚠
  • p.Ile57Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile63Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile63Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ile98Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Leu156_Ala158del Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu255Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Leu305= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu306Val Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Leu342Val Single submitter Inborn genetic diseases ⚠
  • p.Leu440Val Single submitter Inborn genetic diseases ⚠
  • p.Leu446Pro Single submitter ⚠
  • p.Leu90Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Lys130Gln Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Lys162Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Lys162Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Lys205Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys414= Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met118Ile Single submitter ⚠
  • p.Met118Lys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met125Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met13Ile Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Met180Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met21Val Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met362Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met65Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Met89Thr Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Phe297Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe299Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Phe80Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Phe80Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro109Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro259Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro330Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro35Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro40Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro43Arg Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro47Ala Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Pro47Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro74Ala Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro74Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Pro74Thr Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser429Asn Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Ser84Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser85Leu Single submitter ⚠
  • p.Thr245Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr245Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Thr247Ala Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Thr323Met Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Thr344Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp464Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Trp71Leu Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Trp71Ser Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Tyr186Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr346Cys Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Tyr377His Single submitter ⚠
  • p.Tyr75Phe Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val117Leu Single submitter Inborn genetic diseases ⚠
  • p.Val143Ala Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val257Ile Single submitter Inborn genetic diseases ⚠
  • p.Val270Ile Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val436_Leu440del Single submitter aromatic L-amino acid decarboxylase deficiency
  • p.Val460Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val474Gly Single submitter aromatic L-amino acid decarboxylase deficiency ⚠
  • p.Val474Met Single submitter aromatic L-amino acid decarboxylase deficiency ⚠