ALAD — 201 ClinVar variants
All ClinVar germline ALAD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 10 Conflicting · 30 Benign · 5 Benign/Likely benign · 58 Likely benign · 92 Uncertain significance
Full ALAD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALAD p.Arg142Gln
Conflicting
Single submitter
Inborn genetic diseases
- ALAD p.Phe12Leu Conflicting Single submitter
-
ALAD p.Val6Ile
Conflicting
Single submitter
porphyria due to ALA dehydratase deficiency
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALAD p.Ala93Thr
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Arg147Cys
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Arg174His
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Arg90Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Ile314Val
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Ser197Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Arg174Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Arg174Gly Uncertain significance Single submitter
-
ALAD p.Arg17Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Arg221Cys Uncertain significance Single submitter
-
ALAD p.Arg221Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Arg240Pro
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Arg240Trp
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
- ALAD p.Arg84Lys Uncertain significance Single submitter
- ALAD p.Asn27Ser Uncertain significance Single submitter
- ALAD p.Asp42Glu Uncertain significance Single submitter
- ALAD p.Cys162Ser Uncertain significance Single submitter
-
ALAD p.Glu180Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Glu330Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Leu15Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Lys159Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Pro216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Ser168Leu Uncertain significance Single submitter
-
ALAD p.Ser215Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Thr38Lys Uncertain significance Single submitter
-
ALAD p.Val191Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 33
The independent predictors disagree with each other — read with care.
-
ALAD p.Arg17Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Arg222Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Arg262Trp
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Asp239Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Gln45His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Gly292Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALAD p.Met304Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ALAD p.Ser96Phe Uncertain significance Multiple submitters
-
ALAD p.Val242Ile
Uncertain significance
Multiple submitters
porphyria due to ALA dehydratase deficiency
-
ALAD p.Ala160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Arg149Gln
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
- ALAD p.Arg149Trp Uncertain significance Single submitter
-
ALAD p.Arg231Gln
Likely benign
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Arg240Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Arg60Gln Uncertain significance Single submitter
-
ALAD p.Arg60Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Arg74His
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Asp266Gly Uncertain significance Single submitter
-
ALAD p.Glu97Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Gly10Ala
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
- ALAD p.Gly10Ser Uncertain significance Single submitter
-
ALAD p.Gly139Arg
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Leu31Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Lys110Asn Uncertain significance Single submitter
-
ALAD p.Met304Val
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Pro321Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Pro67Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ALAD p.Ser136Asn Uncertain significance Single submitter
-
ALAD p.Tyr257Cys
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Val191Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALAD p.Val275Met
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Val81Ile
Uncertain significance
Single submitter
porphyria due to ALA dehydratase deficiency
-
ALAD p.Ala274Thr
Pathogenic
No assertion criteria
porphyria due to ALA dehydratase deficiency
All ALAD variants
Pathogenic 3
- c.165-11C>A No assertion criteria porphyria due to ALA dehydratase deficiency
- c.165-11C>T No assertion criteria porphyria due to ALA dehydratase deficiency
- p.Ala274Thr No assertion criteria porphyria due to ALA dehydratase deficiency ⚠
Likely pathogenic 3
- p.Gly133Arg Multiple submitters porphyria due to ALA dehydratase deficiency
- c.165-2A>G Single submitter porphyria due to ALA dehydratase deficiency
- c.481+1G>T Single submitter
Conflicting classifications of pathogenicity 10
- c.715-14C>A Single submitter porphyria due to ALA dehydratase deficiency
- c.801+14C>T Single submitter porphyria due to ALA dehydratase deficiency
- c.931+15G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1322G>A Single submitter porphyria due to ALA dehydratase deficiency
- p.Arg142Gln Single submitter Inborn genetic diseases ⚠
- p.Asp88= Single submitter porphyria due to ALA dehydratase deficiency
- p.Leu226= Single submitter porphyria due to ALA dehydratase deficiency
- p.Phe12Leu Single submitter ⚠
- p.Pro167= Single submitter porphyria due to ALA dehydratase deficiency
- p.Val6Ile Single submitter porphyria due to ALA dehydratase deficiency ⚠
Benign 30
- c.113+299C>T Multiple submitters
- c.113+339C>T Multiple submitters
- c.262-139A>G Multiple submitters
- c.262-176G>A Multiple submitters
- c.262-37T>C Multiple submitters
- c.397+12C>T Multiple submitters porphyria due to ALA dehydratase deficiency
- c.398-13A>G Multiple submitters porphyria due to ALA dehydratase deficiency
- c.398-34G>C Multiple submitters
- c.570+7G>T Multiple submitters
- c.802-115A>G Multiple submitters
- c.802-141C>T Multiple submitters
- c.931+66T>C Multiple submitters
- c.*1737T>C Multiple submitters porphyria due to ALA dehydratase deficiency
- c.*1950G>A Multiple submitters porphyria due to ALA dehydratase deficiency
- c.*471C>T Multiple submitters porphyria due to ALA dehydratase deficiency
- c.*613G>A Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Asn138= Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Ile47= Multiple submitters
- p.Leu155= Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Tyr56= Multiple submitters porphyria due to ALA dehydratase deficiency
- c.113+40TTGGGG[4] Single submitter
- c.165-196G>A Single submitter
- c.570+244T>C Single submitter
- c.571-220dup Single submitter
- c.715-21C>T Single submitter
- c.932-265T>C Single submitter
- c.-75-314del Single submitter
- c.*813A>G Single submitter porphyria due to ALA dehydratase deficiency
- c.*871C>A Single submitter porphyria due to ALA dehydratase deficiency
- p.Leu285= Single submitter
Benign/Likely benign 5
- p.Ala156= Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Asp120= Multiple submitters
- p.Lys59Asn Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Ser5= Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Thr24= Multiple submitters porphyria due to ALA dehydratase deficiency
Likely benign 58
- p.His129= Multiple submitters
- c.113+15A>G Single submitter
- c.113+19G>A Single submitter
- c.114-11C>G Single submitter
- c.114-8T>A Single submitter
- c.164+10G>A Single submitter
- c.165-10A>G Single submitter
- c.397+14C>G Single submitter
- c.397+16C>T Single submitter
- c.482-11C>T Single submitter
- c.571-14T>C Single submitter
- c.571-20C>G Single submitter
- c.626+15G>A Single submitter
- c.714+18G>C Single submitter
- c.714+8del Single submitter
- c.801+15G>A Single submitter
- c.802-18C>T Single submitter
- c.931+17G>A Single submitter
- c.931+20G>T Single submitter
- c.932-10C>T Single submitter
- c.-4C>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*1381G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1473G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1803A>G Single submitter porphyria due to ALA dehydratase deficiency
- c.*317T>G Single submitter porphyria due to ALA dehydratase deficiency
- c.*771C>T Single submitter porphyria due to ALA dehydratase deficiency
- p.Ala104= Single submitter
- p.Ala166= Single submitter
- p.Ala291= Single submitter
- p.Arg109= Single submitter
- p.Arg17= Single submitter
- p.Arg231Gln Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Gln148= Single submitter
- p.Gly292= Single submitter
- p.Gly80= Single submitter
- p.His106Arg Single submitter Inborn genetic diseases
- p.His287= Single submitter
- p.His8= Single submitter
- p.Ile260= Single submitter
- p.Leu123= Single submitter
- p.Leu271= Single submitter
- p.Leu273= Single submitter
- p.Leu301= Single submitter
- p.Leu31= Single submitter
- p.Phe12= Single submitter
- p.Phe218= Single submitter
- p.Pro321= Single submitter
- p.Ser192= Single submitter
- p.Ser9= Single submitter
- p.Ser92= Single submitter
- p.Ser96= Single submitter
- p.Ter331= Single submitter
- p.Tyr257= Single submitter
- p.Val153= Single submitter
- p.Val164= Single submitter
- p.Val251= Single submitter
- p.Val264= Single submitter
- c.114-108C>T No assertion criteria ALAD-related disorder
Uncertain significance 92
- c.*127C>T Multiple submitters porphyria due to ALA dehydratase deficiency
- c.*363G>A Multiple submitters porphyria due to ALA dehydratase deficiency
- p.Ala93Thr Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- p.Arg147Cys Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- p.Arg174His Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- p.Arg17Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg222Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg262Trp Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- p.Arg90Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp239Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln45His Multiple submitters Inborn genetic diseases ⚠
- p.Gly292Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile314Val Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- p.Met304Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser197Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser96Phe Multiple submitters ⚠
- p.Val242Ile Multiple submitters porphyria due to ALA dehydratase deficiency ⚠
- c.-70G>T Single submitter porphyria due to ALA dehydratase deficiency
- c.-75-11A>G Single submitter porphyria due to ALA dehydratase deficiency
- c.-76+15G>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*1007G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*106C>G Single submitter porphyria due to ALA dehydratase deficiency
- c.*1280G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1280G>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*12C>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*1464A>G Single submitter porphyria due to ALA dehydratase deficiency
- c.*1470G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1511T>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*1631G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1671A>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*1675C>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*1741G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*1787A>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*1804T>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*1832T>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*1864A>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*234G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*381G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*400G>A Single submitter porphyria due to ALA dehydratase deficiency
- c.*422G>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*438G>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*498C>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*643G>T Single submitter porphyria due to ALA dehydratase deficiency
- c.*760T>C Single submitter porphyria due to ALA dehydratase deficiency
- c.*920C>T Single submitter porphyria due to ALA dehydratase deficiency
- p.Ala158= Single submitter porphyria due to ALA dehydratase deficiency
- p.Ala160Thr Single submitter Inborn genetic diseases ⚠
- p.Ala299= Single submitter porphyria due to ALA dehydratase deficiency
- p.Arg149Gln Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg174Cys Single submitter Inborn genetic diseases ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg17Trp Single submitter Inborn genetic diseases ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg221Ser Single submitter Inborn genetic diseases ⚠
- p.Arg240Gln Single submitter Inborn genetic diseases ⚠
- p.Arg240Pro Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Arg240Trp Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter Inborn genetic diseases ⚠
- p.Arg74His Single submitter Inborn genetic diseases ⚠
- p.Arg84Lys Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asp266Gly Single submitter ⚠
- p.Asp42Glu Single submitter ⚠
- p.Cys162Ser Single submitter ⚠
- p.Gln290= Single submitter porphyria due to ALA dehydratase deficiency
- p.Glu180Gly Single submitter Inborn genetic diseases ⚠
- p.Glu330Lys Single submitter Inborn genetic diseases ⚠
- p.Glu97Lys Single submitter Inborn genetic diseases ⚠
- p.Gly10Ala Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Gly10Ser Single submitter ⚠
- p.Gly139Arg Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Leu15Val Single submitter Inborn genetic diseases ⚠
- p.Leu31Phe Single submitter Inborn genetic diseases ⚠
- p.Lys110Asn Single submitter ⚠
- p.Lys159Arg Single submitter Inborn genetic diseases ⚠
- p.Met171del Single submitter
- p.Met1Val Single submitter porphyria due to ALA dehydratase deficiency
- p.Met304Val Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Pro216Leu Single submitter Inborn genetic diseases ⚠
- p.Pro321Ser Single submitter Inborn genetic diseases ⚠
- p.Pro67Arg Single submitter Inborn genetic diseases ⚠
- p.Ser136Asn Single submitter ⚠
- p.Ser168Leu Single submitter ⚠
- p.Ser215Asn Single submitter Inborn genetic diseases ⚠
- p.Thr38Lys Single submitter ⚠
- p.Tyr257Cys Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Val191Ala Single submitter Inborn genetic diseases ⚠
- p.Val191Ile Single submitter Inborn genetic diseases ⚠
- p.Val275Met Single submitter porphyria due to ALA dehydratase deficiency ⚠
- p.Val81Ile Single submitter porphyria due to ALA dehydratase deficiency ⚠