DAO — 93 ClinVar variants
All ClinVar germline DAO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
2 Conflicting · 19 Benign · 28 Likely benign · 44 Uncertain significance
Full DAO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 lean, ClinVar uncertain 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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DAO p.Ala175Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg286His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg297His
Uncertain significance
Single submitter
DAO-related disorder
-
DAO p.Asp58Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Gln243His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Gly113Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Gly12Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
DAO p.Gly131Cys
Uncertain significance
Single submitter
DAO-related disorder
- DAO p.Gly315Arg Uncertain significance Single submitter
-
DAO p.Gly321Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
DAO p.Ile214Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Lys211Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Met342Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Pro105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Thr71Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
DAO p.Tyr144Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Val34Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg286Cys
Uncertain significance
No assertion criteria
DAO-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
DAO p.Ile318Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DAO p.Ala16Thr
Conflicting
Single submitter
amyotrophic lateral sclerosis
-
DAO p.Ala84Thr
Conflicting
Single submitter
amyotrophic lateral sclerosis
-
DAO p.Arg115Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg290Gln
Uncertain significance
Single submitter
DAO-related disorder
-
DAO p.Arg297Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg2Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg2Ser
Uncertain significance
Single submitter
DAO-related disorder
-
DAO p.Arg38His
Uncertain significance
Single submitter
DAO-related disorder
-
DAO p.Asn180Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Asn246Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DAO p.Gln63Glu Likely benign Single submitter
-
DAO p.Glu168Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Glu21Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Gly198Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Ile6Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Leu87Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DAO p.Pro103Leu Likely benign Single submitter
-
DAO p.Pro197Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Pro343Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Pro54Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Ser25Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DAO p.Ser345Phe Uncertain significance Single submitter
-
DAO p.Thr235Ile
Uncertain significance
Single submitter
DAO-related disorder
-
DAO p.Thr280Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Tyr74Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DAO p.Arg199Gln
Likely benign
No assertion criteria
DAO-related disorder
-
DAO p.Arg199Trp
Likely benign
No assertion criteria
DAO-related disorder
-
DAO p.Arg38Cys
Uncertain significance
No assertion criteria
DAO-related disorder
-
DAO p.Leu347Phe
Uncertain significance
No assertion criteria
DAO-related disorder
-
DAO p.Phe90Val
Likely benign
No assertion criteria
DAO-related disorder
All DAO variants
Conflicting classifications of pathogenicity 2
- p.Ala16Thr Single submitter amyotrophic lateral sclerosis ⚠
- p.Ala84Thr Single submitter amyotrophic lateral sclerosis ⚠
Benign 19
- c.195-99C>T Multiple submitters
- c.387-258A>G Multiple submitters
- c.453-182G>C Multiple submitters
- c.507+98G>A Multiple submitters
- c.508-55A>G Multiple submitters
- c.696-25C>T Multiple submitters
- c.912+166C>T Multiple submitters
- c.912+69A>G Multiple submitters
- c.913-129G>A Multiple submitters
- c.-9-27T>G Multiple submitters
- c.*102T>C Multiple submitters
- p.Ile241= Multiple submitters
- p.Ser93= Multiple submitters
- c.309+337A>G Single submitter
- c.386+282A>C Single submitter
- c.508-311T>C Single submitter
- c.814-180A>G Single submitter
- c.-9-234C>T Single submitter
- c.508-6T>C No assertion criteria DAO-related disorder
Likely benign 28
- p.Glu100= Multiple submitters
- c.309+10C>T Single submitter
- c.814-4C>G Single submitter
- p.Asp206= Single submitter
- p.Gln63Glu Single submitter ⚠
- p.Ile11= Single submitter
- p.Pro103Leu Single submitter ⚠
- p.Thr15= Single submitter
- p.Thr280= Single submitter
- p.Tyr144His Single submitter
- p.Tyr309= Single submitter
- p.Val164Leu Single submitter
- c.195-7C>T No assertion criteria DAO-related disorder
- c.386+2T>C No assertion criteria DAO-related disorder
- p.Ala36= No assertion criteria DAO-related disorder
- p.Ala49= No assertion criteria DAO-related disorder
- p.Ala8= No assertion criteria DAO-related disorder
- p.Arg199Gln No assertion criteria DAO-related disorder ⚠
- p.Arg199Trp No assertion criteria DAO-related disorder ⚠
- p.Arg283Gln No assertion criteria DAO-related disorder
- p.Gln161= No assertion criteria DAO-related disorder
- p.Gly129Asp No assertion criteria DAO-related disorder
- p.Gly239= No assertion criteria DAO-related disorder
- p.Leu137= No assertion criteria DAO-related disorder
- p.Leu51_Trp52del No assertion criteria DAO-related disorder
- p.Phe90Val No assertion criteria DAO-related disorder ⚠
- p.Thr44= No assertion criteria DAO-related disorder
- p.Tyr128= No assertion criteria DAO-related disorder
Uncertain significance 44
- p.Ile318Ser Multiple submitters Inborn genetic diseases ⚠
- c.387-1G>A Single submitter
- p.Ala175Thr Single submitter Inborn genetic diseases ⚠
- p.Arg115Gln Single submitter Inborn genetic diseases ⚠
- p.Arg286His Single submitter Inborn genetic diseases ⚠
- p.Arg290Gln Single submitter DAO-related disorder ⚠
- p.Arg297Cys Single submitter Inborn genetic diseases ⚠
- p.Arg297His Single submitter DAO-related disorder ⚠
- p.Arg2Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2Ser Single submitter DAO-related disorder ⚠
- p.Arg38His Single submitter DAO-related disorder ⚠
- p.Asn180Ser Single submitter Inborn genetic diseases ⚠
- p.Asn246Ser Single submitter Inborn genetic diseases ⚠
- p.Asp58Val Single submitter Inborn genetic diseases ⚠
- p.Gln243His Single submitter Inborn genetic diseases ⚠
- p.Glu168Lys Single submitter Inborn genetic diseases ⚠
- p.Glu21Lys Single submitter Inborn genetic diseases ⚠
- p.Gly113Glu Single submitter Inborn genetic diseases ⚠
- p.Gly12Arg Single submitter amyotrophic lateral sclerosis ⚠
- p.Gly131Cys Single submitter DAO-related disorder ⚠
- p.Gly198Val Single submitter Inborn genetic diseases ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly321Glu Single submitter amyotrophic lateral sclerosis ⚠
- p.Ile214Thr Single submitter Inborn genetic diseases ⚠
- p.Ile6Thr Single submitter Inborn genetic diseases ⚠
- p.Leu87Val Single submitter Inborn genetic diseases ⚠
- p.Lys211Met Single submitter Inborn genetic diseases ⚠
- p.Met342Ile Single submitter Inborn genetic diseases ⚠
- p.Pro103= Single submitter DAO-related disorder
- p.Pro105Arg Single submitter Inborn genetic diseases ⚠
- p.Pro197Leu Single submitter Inborn genetic diseases ⚠
- p.Pro343Leu Single submitter Inborn genetic diseases ⚠
- p.Pro54Thr Single submitter Inborn genetic diseases ⚠
- p.Ser25Leu Single submitter Inborn genetic diseases ⚠
- p.Ser345Phe Single submitter ⚠
- p.Thr235Ile Single submitter DAO-related disorder ⚠
- p.Thr280Asn Single submitter Inborn genetic diseases ⚠
- p.Thr71Ile Single submitter amyotrophic lateral sclerosis ⚠
- p.Tyr144Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr74Cys Single submitter Inborn genetic diseases ⚠
- p.Val34Asp Single submitter Inborn genetic diseases ⚠
- p.Arg286Cys No assertion criteria DAO-related disorder ⚠
- p.Arg38Cys No assertion criteria DAO-related disorder ⚠
- p.Leu347Phe No assertion criteria DAO-related disorder ⚠