Sugi Variant

Sugi Variant/ALDH5A1

ALDH5A1 — 832 ClinVar variants

All ClinVar germline ALDH5A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 299 flagged for review →

75 Pathogenic · 12 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 47 Conflicting · 68 Benign · 5 Benign/Likely benign · 247 Likely benign · 323 Uncertain significance

Full ALDH5A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 299

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.

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 108

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

Predictors split 180

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 180

All ALDH5A1 variants

Pathogenic 75

  • c.1015-2A>C Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1343+1_1343+3delinsTT Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1343+1G>A Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1402+1G>A Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.610-2A>G Multiple submitters Inborn genetic diseases
  • c.870+1G>T Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Ala12fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Ala38fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Arg261Ter Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Arg412Ter Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Arg514Ter Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Cys223Tyr Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Cys93Phe Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gln323fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gln43fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly176Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly268Glu Multiple submitters Inborn genetic diseases
  • p.Gly533Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser208fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Ser35_Gln43delinsTer Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Thr233Met Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Trp127fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Trp204Ter Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Val190fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1015-1G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+1G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-2del Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1402+2T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.438+1G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.727-3298G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala139Asp Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala153fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala188fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala221fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala82fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg103fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg187Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg99_Ala100insGlyGlyValArgGluAlaArg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn255Asp Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn418fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys46fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys93fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln133Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln395fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln395Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln79Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu526Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly29fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly516Glu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.His154fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile142fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile257fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu138Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu243_Ser245del Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu44fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu58fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys118Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys126fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys301Glu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys508fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Met432Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe206fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Phe419Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro203Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser168fs Single submitter
  • p.Ser285Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser35fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser55fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr75fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Trp112Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Trp127Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Tyr106Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Tyr254Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val253_Tyr254insTer Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val256fs Single submitter succinic semialdehyde dehydrogenase deficiency

Pathogenic/Likely pathogenic 12

  • c.1402+1G>T Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Asp274fs Multiple submitters Inborn genetic diseases
  • p.Cys223Arg Multiple submitters Inborn genetic diseases
  • p.Cys531Tyr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu231Lys Multiple submitters ALDH5A1-related disorder ⚠
  • p.Gly196Asp Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly222fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly409Asp Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Leu425Pro Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Pro203Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Pro442fs Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Ser299fs Multiple submitters succinic semialdehyde dehydrogenase deficiency

Likely pathogenic 55

  • p.Gln349Ter Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly252Val Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly441Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Pro194Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Pro229Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1014+723_1173+796del Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+1G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-2A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.727-18_733del Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala144Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala218Asp Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg120del Single submitter Likely inborn error of metabolism
  • p.Arg125_Lys126insGlyThrIleTer Single submitter
  • p.Arg213Gly Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg213Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn335Lys Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asp463fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asp92Gly Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys223Ser Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys272fs Single submitter arthrogryposis multiplex congenita
  • p.Cys93Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln477Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu156Lys Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu306Lys Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu501_Cys502insTer Single submitter Inborn genetic diseases
  • p.Glu501del Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly176Glu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly252Cys Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly284Arg Single submitter Likely inborn error of metabolism
  • p.Gly284Asp Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly371fs Single submitter ALDH5A1-related disorder
  • p.Gly520Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile179Asn Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile447_Lys448insAsn Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu124Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu525fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys118Asn Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Lys192Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro207Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro234Ser Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro382Gln Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro382Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro503Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser208Arg Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr143fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr202fs Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr423Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Trp166fs Single submitter
  • p.Tyr128Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Tyr519Ter Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val102_Arg103insLeu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val267Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val487Glu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val487Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val492Asp Single submitter succinic semialdehyde dehydrogenase deficiency

Conflicting classifications of pathogenicity 47

  • c.1015-3C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+1del Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+8C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-6T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-4G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.727-13T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*7T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala217= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala237Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala34= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala404Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala98Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg172His Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg173Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg213Trp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg27Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg369= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg8Trp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn255Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn427Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn493Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp450Asn Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp474Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu231Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu454del Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly11Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly196= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly308= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile458= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile5Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe440= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro41= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro442Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser510Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr181Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr202Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr287Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr288Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr423Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Trp166Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Tyr175= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val197Met Single submitter Inborn genetic diseases ⚠
  • p.Val277= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val321Met Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val400Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val492Ile Single submitter Inborn genetic diseases ⚠
  • p.Val500Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠

Benign 68

Benign/Likely benign 5

  • p.Ala237Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp463= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Cys4Gly Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Trp6Cys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val226= Multiple submitters succinic semialdehyde dehydrogenase deficiency

Likely benign 247

  • c.354+131G>A Multiple submitters
  • c.355-9C>G Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.*1883C>T Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.*784C>T Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Arg261= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Asn320= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Asn372= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Cys4= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gln246= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Gly21Asp Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu59= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Lys228= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Phe360= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Thr451= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Tyr106= Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • c.1014+12A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+13G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+15G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+7C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+7C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+8C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1014+90GT[8] Single submitter
  • c.1015-11C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1015-12T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1015-13G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1015-14T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1015-19G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+10T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+12G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+13T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+18T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1173+289T>G Single submitter
  • c.1173+8dup Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1174-10C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1174-12C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1174-16C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1174-257G>A Single submitter
  • c.1174-7T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1174-9A>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+11C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+15C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+19C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+19C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+20G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+20G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1343+8C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-18del Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-291A>G Single submitter
  • c.1344-4G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-7T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1402+13C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1402+14C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1402+268C>G Single submitter
  • c.1403-10C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-11T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-16T>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-17_1403-15dup Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-18C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-20G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-6T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+11C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+11C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+13G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+13G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+16T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+18C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+19A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+23_354+24dup Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+3GA[2] Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+7G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-16G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-18T>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-18T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-18T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-19C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-200G>A Single submitter
  • c.355-20C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.355-6T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.438+11G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.438+18G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.439-11A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.439-13T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.439-18T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.439-19C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.439-287C>T Single submitter
  • c.439-7A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.609+107A>C Single submitter
  • c.609+15C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.609+20A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.609+9C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.610-12T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.610-13C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.610-4C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.726+11C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.726+17G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.726+7C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.726+8_726+9del Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.727-15_727-14inv Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.727-44A>T Single submitter
  • c.870+11C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+11C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+15T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+20A>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+284C>T Single submitter
  • c.870+301A>T Single submitter
  • c.870+8A>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+9C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.871-10C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.871-11T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.871-13C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.871-19T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.871-6T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1239T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1249T>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1349A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1515C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1877A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3190A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*40T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala100= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala101= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala108= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala144= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala161= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala188= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala221= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala230= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala237= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala326= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala361= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala388= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala399= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala42= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala476= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala52= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala56= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala72= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala73= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala86= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala91= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg103= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg111= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg125= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg14= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg25= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg334= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg8= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg96= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Arg99= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn134= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn205= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asn460= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asp232= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asp322= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Asp62= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys46= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Cys502= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gln380= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu114= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu438= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu523= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Glu97= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly21= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly252= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly284= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly29= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly351= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly36= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly381= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly40= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly49= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly491= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly505= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly506= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly513= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly88= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Gly94= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.His295= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.His436= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile132= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile178= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ile201= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu123= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu130= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu158= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu164= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu189= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu307= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu31= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu368= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu424= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu425= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu433= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu466= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu496= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu54= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu58= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu7= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu70= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu87= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Phe449= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro182= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro20= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro234= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro312= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro39= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro445= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro71= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro77= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro81= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser122= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser17= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser236= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser251= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser281= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser285= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser299= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser304= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser35= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser510= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ser517= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr18= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr202= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr224= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr233= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr336= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr378= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr405= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr423= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr61= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr75= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Tyr47= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Tyr532= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val102= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val115= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val190= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val256= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val357= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val392= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val396= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val406Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val446= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val530= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val90= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Val90= Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.-9G>A No assertion criteria ALDH5A1-related disorder
  • p.Pro37Ala No assertion criteria intellectual disability

Uncertain significance 323

Showing the top 300 by review status; the full set is in the sitemap.

  • c.*3146C>T Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Ala161Thr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala188Val Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala217Thr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala361Val Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala388Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala38Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala38Val Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala459Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala461Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala52Thr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg125Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg125Trp Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg13Trp Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg172Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg173His Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg187Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg213Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg261Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg369Cys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg480Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg514Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp398His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp522Gly Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys10Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys340Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys46Tyr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu114Ala Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu362Lys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu390Gly Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu452Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu494Lys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly222Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly29Ala Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly309Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly505Asp Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly511Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly520Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly67Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.His294Pro Multiple submitters Inborn genetic diseases ⚠
  • p.His436Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile178Thr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile195Val Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile521Thr Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu15Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu310Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu512Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu59Pro Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu7Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Lys262Asn Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Met329Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met432Val Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe109Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro312Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro33Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro39Ala Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro422Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro442Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser245Arg Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ter536Gln Multiple submitters succinic semialdehyde dehydrogenase deficiency
  • p.Thr429Ser Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr439Ile Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Tyr106Cys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Tyr254Cys Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val102Gly Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val102Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val253Ala Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val267Leu Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val315Ile Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Val396Met Multiple submitters succinic semialdehyde dehydrogenase deficiency ⚠
  • c.1343+4A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1344-3C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.1403-2A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.354+10C>T Single submitter
  • c.354+5G>A Single submitter
  • c.355-3C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.609+5G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.610-17T>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.726+10T>G Single submitter
  • c.726+7_726+8delinsAA Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.870+4T>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1033T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1139C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1221C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1230T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1248C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1322C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1355C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1422C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1426T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1485C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1531A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1537G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1658C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1674C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1851C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*1918G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2097C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2109A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2128A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2264G>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2400G>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2414G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2449A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2488G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2675G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2720C>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2737G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2788C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2852C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2861G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2869T>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*2903C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3120T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*318C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3224C>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3253C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3277C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*3298A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*472C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*550C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*563G>A Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*56C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*659T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*696T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*942A>G Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*960C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*970C>T Single submitter succinic semialdehyde dehydrogenase deficiency
  • c.*980T>C Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Ala100Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala100Val Single submitter ⚠
  • p.Ala108Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala188Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala199Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala209Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala218Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala28Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala2Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala311Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala324Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala328Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala34Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala355Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala361Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala388Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala459Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala48Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala52Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala56Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala82Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala86Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ala91Thr Single submitter ⚠
  • p.Arg103Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg111Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg113Lys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg113Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg14Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg172Gly Single submitter ⚠
  • p.Arg173Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg173Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg173Ser Single submitter ⚠
  • p.Arg187Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg25Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg261Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg27Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg27His Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg302Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg334Met Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg350Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg412Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg45Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg68Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Arg99Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn255His Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn320Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn320Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn367Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn372Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn397Lys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn418His Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asn493Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp137Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp137Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp274His Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp450Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Asp450His Single submitter ⚠
  • p.Asp522Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp92Asn Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys340Trp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys426Tyr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys46Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Cys531Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gln430Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gln43Pro Single submitter Inborn genetic diseases ⚠
  • p.Glu107Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu107Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu107Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu114Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu119Lys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu152Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu170Lys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu266Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu437Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu486Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu501Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu97Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Glu97Gly Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly155Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly16Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly29Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly308Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly30Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly30Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly351Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly351Val Single submitter ⚠
  • p.Gly371Asp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly40Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly416Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly488Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly491Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly84Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly84Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Gly94Trp Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.His154Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.His154Gln Single submitter ⚠
  • p.His154Tyr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.His180Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.His294Tyr Single submitter Inborn genetic diseases ⚠
  • p.His353Arg Single submitter ⚠
  • p.Ile178Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile179Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile195Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ile211Leu Single submitter ⚠
  • p.Ile478Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu189Val Single submitter ⚠
  • p.Leu24_Arg25dup Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu240Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu276Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu31Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu415Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu433Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu512Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu525Val Single submitter ⚠
  • p.Leu527Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu527Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu535Met Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu54_Ser55insPhe Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Leu59Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu70Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu70Pro Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Leu70Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Lys126Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Lys151Gln Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Lys265Glu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Lys265Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Met1Thr Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Met305Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Met364Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Met489Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Met89Ile Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe162Leu Single submitter ⚠
  • p.Phe19Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe282Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe316Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe360Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe374Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe374Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe419Val Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Phe440Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro182Val Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro203= Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Pro20Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro229Thr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro26His Single submitter Inborn genetic diseases ⚠
  • p.Pro33Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro37Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro37Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro39Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro41Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Pro77Leu Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser160= Single submitter
  • p.Ser160Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser299Tyr Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser35Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser517Cys Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser517Phe Single submitter ⚠
  • p.Ser55Phe Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser63Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ser9Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Ter536Leu Single submitter succinic semialdehyde dehydrogenase deficiency
  • p.Thr181Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr224Asn Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr224Ile Single submitter ⚠
  • p.Thr233Ala Single submitter ⚠
  • p.Thr283Ser Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr339Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr451Ala Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Thr75Pro Single submitter Inborn genetic diseases ⚠
  • p.Trp69Arg Single submitter succinic semialdehyde dehydrogenase deficiency ⚠
  • p.Trp69Cys Single submitter Inborn genetic diseases ⚠