ALDH2 — 42 ClinVar variants
All ClinVar germline ALDH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
7 Benign · 7 Likely benign · 28 Uncertain significance
Full ALDH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH2 p.Arg342Pro Uncertain significance Single submitter
- ALDH2 p.Asn516His Uncertain significance Single submitter
- ALDH2 p.Gln30His Uncertain significance Single submitter
- ALDH2 p.Gly151Ser Uncertain significance Single submitter
- ALDH2 p.Gly491Ser Uncertain significance Single submitter
- ALDH2 p.Phe418Ile Uncertain significance Single submitter
- ALDH2 p.Pro10Ser Uncertain significance Single submitter
- ALDH2 p.Pro188Leu Uncertain significance Single submitter
- ALDH2 p.Val235Gly Uncertain significance Single submitter
- ALDH2 p.Thr117Ile Uncertain significance No assertion criteria
Predictors split 21
The independent predictors disagree with each other — read with care.
- ALDH2 p.Pro92Thr Benign Multiple submitters
-
ALDH2 p.Thr244Met
Likely benign
Multiple submitters
alcohol sensitivity, acute
- ALDH2 p.Arg114Gln Uncertain significance Single submitter
- ALDH2 p.Arg116Trp Uncertain significance Single submitter
-
ALDH2 p.Arg268Cys
Uncertain significance
Single submitter
alcohol sensitivity, acute
- ALDH2 p.Arg94His Likely benign Single submitter
- ALDH2 p.Asp299Asn Uncertain significance Single submitter
- ALDH2 p.Cys386Tyr Uncertain significance Single submitter
- ALDH2 p.Cys66Ser Uncertain significance Single submitter
- ALDH2 p.Glu113Lys Uncertain significance Single submitter
- ALDH2 p.Gly102Ser Uncertain significance Single submitter
- ALDH2 p.Gly62Arg Uncertain significance Single submitter
- ALDH2 p.Gly9Arg Uncertain significance Single submitter
- ALDH2 p.Leu16Arg Uncertain significance Single submitter
- ALDH2 p.Lys226Gln Uncertain significance Single submitter
- ALDH2 p.Lys73Glu Uncertain significance Single submitter
- ALDH2 p.Met300Thr Uncertain significance Single submitter
- ALDH2 p.Pro92Ala Uncertain significance Single submitter
- ALDH2 p.Thr509Ala Uncertain significance Single submitter
- ALDH2 p.Thr61Ser Uncertain significance Single submitter
- ALDH2 p.Val340Ile Uncertain significance Single submitter
All ALDH2 variants
Benign 7
- p.Pro92Thr Multiple submitters ⚠
- p.Val304Met Multiple submitters
- p.Leu105= Single submitter
- p.Leu284= Single submitter
- p.Ser488= Single submitter
- p.Thr441= Single submitter
- p.Pro188= No assertion criteria ALDH2-related disorder
Likely benign 7
- p.Ile41Val Multiple submitters
- p.Thr244Met Multiple submitters alcohol sensitivity, acute ⚠
- c.1249-10C>T Single submitter
- c.361-8C>T Single submitter
- p.Arg94His Single submitter ⚠
- p.Cys179= Single submitter
- p.Val348= Single submitter
Uncertain significance 28
- p.Arg114Gln Single submitter ⚠
- p.Arg116Trp Single submitter ⚠
- p.Arg268Cys Single submitter alcohol sensitivity, acute ⚠
- p.Arg342Pro Single submitter ⚠
- p.Asn516His Single submitter ⚠
- p.Asp299Asn Single submitter ⚠
- p.Cys386Tyr Single submitter ⚠
- p.Cys66Ser Single submitter ⚠
- p.Gln30His Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Gly102Ser Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly491Ser Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.Leu16Arg Single submitter ⚠
- p.Lys226Gln Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Met300Thr Single submitter ⚠
- p.Phe418Ile Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro92Ala Single submitter ⚠
- p.Thr509Ala Single submitter ⚠
- p.Thr61Ser Single submitter ⚠
- p.Val235Gly Single submitter ⚠
- p.Val340Ile Single submitter ⚠
- p.Thr117Ile No assertion criteria ⚠