ALDH1L2 — 80 ClinVar variants
All ClinVar germline ALDH1L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Likely pathogenic · 4 Likely benign · 75 Uncertain significance
Full ALDH1L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH1L2 p.Ala307Pro Uncertain significance Single submitter
- ALDH1L2 p.Ala454Gly Uncertain significance Single submitter
- ALDH1L2 p.Ala514Val Uncertain significance Single submitter
- ALDH1L2 p.Ala67Val Uncertain significance Single submitter
- ALDH1L2 p.Ala94Thr Uncertain significance Single submitter
- ALDH1L2 p.Arg552Ile Uncertain significance Single submitter
- ALDH1L2 p.Arg733Gln Uncertain significance Single submitter
- ALDH1L2 p.Arg96Thr Uncertain significance Single submitter
- ALDH1L2 p.Asn21Ser Uncertain significance Single submitter
- ALDH1L2 p.Asn273His Uncertain significance Single submitter
- ALDH1L2 p.Asn723Thr Uncertain significance Single submitter
- ALDH1L2 p.Asp398Glu Uncertain significance Single submitter
- ALDH1L2 p.Asp559Asn Uncertain significance Single submitter
- ALDH1L2 p.Cys472Ser Uncertain significance Single submitter
- ALDH1L2 p.Cys707Arg Uncertain significance Single submitter
- ALDH1L2 p.Gln215Arg Uncertain significance Single submitter
- ALDH1L2 p.Gln325His Uncertain significance Single submitter
- ALDH1L2 p.Glu44Gln Uncertain significance Single submitter
- ALDH1L2 p.Glu523Lys Uncertain significance Single submitter
- ALDH1L2 p.Gly330Cys Uncertain significance Single submitter
- ALDH1L2 p.Gly786Val Uncertain significance Single submitter
- ALDH1L2 p.Gly797Arg Uncertain significance Single submitter
- ALDH1L2 p.His249Pro Uncertain significance Single submitter
- ALDH1L2 p.His661Pro Uncertain significance Single submitter
- ALDH1L2 p.Ile644Asn Uncertain significance Single submitter
- ALDH1L2 p.Ile703Val Uncertain significance Single submitter
- ALDH1L2 p.Leu105Pro Uncertain significance Single submitter
- ALDH1L2 p.Leu693Phe Uncertain significance Single submitter
- ALDH1L2 p.Leu761Phe Uncertain significance Single submitter
- ALDH1L2 p.Leu921Val Uncertain significance Single submitter
- ALDH1L2 p.Lys150Arg Uncertain significance Single submitter
- ALDH1L2 p.Lys77Met Uncertain significance Single submitter
- ALDH1L2 p.Met198Thr Uncertain significance Single submitter
- ALDH1L2 p.Met438Val Uncertain significance Single submitter
- ALDH1L2 p.Met868Val Uncertain significance Single submitter
- ALDH1L2 p.Phe551Ser Uncertain significance Single submitter
- ALDH1L2 p.Pro106Arg Uncertain significance Single submitter
-
ALDH1L2 p.Pro133His
Uncertain significance
Single submitter
neurodevelopmental disorder
- ALDH1L2 p.Pro278Arg Uncertain significance Single submitter
- ALDH1L2 p.Pro809Leu Uncertain significance Single submitter
- ALDH1L2 p.Ser130Phe Uncertain significance Single submitter
- ALDH1L2 p.Thr294Ala Uncertain significance Single submitter
- ALDH1L2 p.Thr462Ala Uncertain significance Single submitter
- ALDH1L2 p.Thr462Ser Uncertain significance Single submitter
- ALDH1L2 p.Thr623Met Uncertain significance Single submitter
- ALDH1L2 p.Thr87Ala Uncertain significance Single submitter
- ALDH1L2 p.Trp245Arg Uncertain significance Single submitter
- ALDH1L2 p.Tyr853Cys Uncertain significance Single submitter
- ALDH1L2 p.Val293Ile Uncertain significance Single submitter
- ALDH1L2 p.Val474Ile Uncertain significance Single submitter
- ALDH1L2 p.Val616Ala Uncertain significance Single submitter
- ALDH1L2 p.Val643Phe Uncertain significance Single submitter
- ALDH1L2 p.Val748Ala Uncertain significance Single submitter
- ALDH1L2 p.Val811Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ALDH1L2 p.Ala514Ser Uncertain significance Single submitter
- ALDH1L2 p.Ala607Val Uncertain significance Single submitter
- ALDH1L2 p.Arg10Pro Uncertain significance Single submitter
- ALDH1L2 p.Arg847Gln Uncertain significance Single submitter
- ALDH1L2 p.Asn569Lys Uncertain significance Single submitter
- ALDH1L2 p.Asp842Ala Uncertain significance Single submitter
- ALDH1L2 p.Gln226His Uncertain significance Single submitter
- ALDH1L2 p.Glu218Gln Uncertain significance Single submitter
- ALDH1L2 p.Glu751Gly Uncertain significance Single submitter
- ALDH1L2 p.Ile702Leu Uncertain significance Single submitter
- ALDH1L2 p.Leu538Phe Uncertain significance Single submitter
- ALDH1L2 p.Met114Thr Uncertain significance Single submitter
- ALDH1L2 p.Met546Ile Uncertain significance Single submitter
- ALDH1L2 p.Pro214Ser Uncertain significance Single submitter
- ALDH1L2 p.Thr765Ile Uncertain significance Single submitter
- ALDH1L2 p.Val713Met Uncertain significance Single submitter
- ALDH1L2 p.Val98Met Uncertain significance Single submitter
All ALDH1L2 variants
Likely pathogenic 1
- p.Gly390fs Single submitter
Likely benign 4
- p.Ala480Val Single submitter
- p.Arg42Cys Single submitter
- p.Gly407Asp Single submitter
- p.Thr309Met Single submitter
Uncertain significance 75
- p.Ala307Pro Single submitter ⚠
- p.Ala454Gly Single submitter ⚠
- p.Ala514Ser Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Ala571Thr Single submitter
- p.Ala607Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg10Pro Single submitter ⚠
- p.Arg212Pro Single submitter
- p.Arg552Ile Single submitter ⚠
- p.Arg575Ser Single submitter
- p.Arg733Gln Single submitter ⚠
- p.Arg847Gln Single submitter ⚠
- p.Arg96Thr Single submitter ⚠
- p.Asn21Ser Single submitter ⚠
- p.Asn273His Single submitter ⚠
- p.Asn569Lys Single submitter ⚠
- p.Asn723Thr Single submitter ⚠
- p.Asp398Glu Single submitter ⚠
- p.Asp559Asn Single submitter ⚠
- p.Asp842Ala Single submitter ⚠
- p.Cys472Ser Single submitter ⚠
- p.Cys707Arg Single submitter ⚠
- p.Gln215Arg Single submitter ⚠
- p.Gln226His Single submitter ⚠
- p.Gln325His Single submitter ⚠
- p.Glu218Gln Single submitter ⚠
- p.Glu44Gln Single submitter ⚠
- p.Glu523Lys Single submitter ⚠
- p.Glu751Gly Single submitter ⚠
- p.Gly330Cys Single submitter ⚠
- p.Gly786Val Single submitter ⚠
- p.Gly797Arg Single submitter ⚠
- p.His249Pro Single submitter ⚠
- p.His661Pro Single submitter ⚠
- p.Ile644Asn Single submitter ⚠
- p.Ile702Leu Single submitter ⚠
- p.Ile703Val Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu538Phe Single submitter ⚠
- p.Leu693Phe Single submitter ⚠
- p.Leu761Phe Single submitter ⚠
- p.Leu921Val Single submitter ⚠
- p.Lys150Arg Single submitter ⚠
- p.Lys77Met Single submitter ⚠
- p.Met114Thr Single submitter ⚠
- p.Met198Thr Single submitter ⚠
- p.Met438Val Single submitter ⚠
- p.Met546Ile Single submitter ⚠
- p.Met868Val Single submitter ⚠
- p.Phe551Ser Single submitter ⚠
- p.Pro106Arg Single submitter ⚠
- p.Pro133His Single submitter neurodevelopmental disorder ⚠
- p.Pro214Ser Single submitter ⚠
- p.Pro278Arg Single submitter ⚠
- p.Pro809Leu Single submitter ⚠
- p.Ser130Phe Single submitter ⚠
- p.Thr294Ala Single submitter ⚠
- p.Thr462Ala Single submitter ⚠
- p.Thr462Ser Single submitter ⚠
- p.Thr623Met Single submitter ⚠
- p.Thr765Ile Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Trp245Arg Single submitter ⚠
- p.Tyr853Cys Single submitter ⚠
- p.Val293Ile Single submitter ⚠
- p.Val474Ile Single submitter ⚠
- p.Val48Leu Single submitter
- p.Val616Ala Single submitter ⚠
- p.Val643Phe Single submitter ⚠
- p.Val713Met Single submitter ⚠
- p.Val748Ala Single submitter ⚠
- p.Val811Met Single submitter ⚠
- p.Val98Met Single submitter ⚠