ALDH1A2 — 83 ClinVar variants
All ClinVar germline ALDH1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
4 Pathogenic · 34 Benign · 9 Likely benign · 36 Uncertain significance
Full ALDH1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH1A2 p.Ala308Val Uncertain significance Single submitter
- ALDH1A2 p.Asp300Gly Uncertain significance Single submitter
- ALDH1A2 p.Glu273Ala Uncertain significance Single submitter
- ALDH1A2 p.Glu436Ala Uncertain significance Single submitter
- ALDH1A2 p.Gly10Arg Uncertain significance Single submitter
- ALDH1A2 p.Lys370Arg Uncertain significance Single submitter
- ALDH1A2 p.Lys507Asn Uncertain significance Single submitter
- ALDH1A2 p.Met8Leu Uncertain significance Single submitter
- ALDH1A2 p.Pro355Ser Uncertain significance Single submitter
- ALDH1A2 p.Pro514Ala Uncertain significance Single submitter
- ALDH1A2 p.Pro514Leu Uncertain significance Single submitter
- ALDH1A2 p.Pro9Ser Uncertain significance Single submitter
- ALDH1A2 p.Trp470Arg Uncertain significance Single submitter
- ALDH1A2 p.Val207Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ALDH1A2 p.Ala151Ser Benign Multiple submitters
- ALDH1A2 p.Ala17Thr Likely benign Single submitter
- ALDH1A2 p.Ala246Val Uncertain significance Single submitter
- ALDH1A2 p.Arg412Gln Likely benign Single submitter
- ALDH1A2 p.Asn406Ile Uncertain significance Single submitter
- ALDH1A2 p.Asn406Lys Uncertain significance Single submitter
- ALDH1A2 p.Asn406Ser Uncertain significance Single submitter
- ALDH1A2 p.Asp167Glu Uncertain significance Single submitter
- ALDH1A2 p.Gln376Arg Uncertain significance Single submitter
- ALDH1A2 p.Gln70His Uncertain significance Single submitter
- ALDH1A2 p.Glu68Gly Uncertain significance Single submitter
- ALDH1A2 p.Ile177Thr Uncertain significance Single submitter
- ALDH1A2 p.Ile238Val Uncertain significance Single submitter
- ALDH1A2 p.Ile259Met Uncertain significance Single submitter
- ALDH1A2 p.Ile77Thr Uncertain significance Single submitter
- ALDH1A2 p.Leu280Val Uncertain significance Single submitter
- ALDH1A2 p.Lys345Met Uncertain significance Single submitter
- ALDH1A2 p.Lys395Arg Uncertain significance Single submitter
- ALDH1A2 p.Pro31Leu Uncertain significance Single submitter
-
ALDH1A2 p.Ser278Asn
Uncertain significance
Single submitter
diaphragmatic hernia 4, with cardiovascular defects
- ALDH1A2 p.Ser461Cys Uncertain significance Single submitter
- ALDH1A2 p.Thr284Ala Uncertain significance Single submitter
- ALDH1A2 p.Tyr221His Uncertain significance Single submitter
-
ALDH1A2 p.Arg347His
Pathogenic
No assertion criteria
diaphragmatic hernia 4, with cardiovascular defects
All ALDH1A2 variants
Pathogenic 4
- p.Ala383Thr No assertion criteria diaphragmatic hernia 4, with cardiovascular defects
- p.Arg347His No assertion criteria diaphragmatic hernia 4, with cardiovascular defects ⚠
- p.Gln182Lys No assertion criteria diaphragmatic hernia 4, with cardiovascular defects
- p.Ser461Tyr No assertion criteria diaphragmatic hernia 4, with cardiovascular defects
Benign 34
- c.118-314T>C Multiple submitters
- c.118-72C>T Multiple submitters
- c.1251+32A>T Multiple submitters
- c.1409+66A>C Multiple submitters
- c.1410-20G>A Multiple submitters
- c.1410-64A>G Multiple submitters
- c.1484+10A>C Multiple submitters
- c.1484+117C>T Multiple submitters
- c.1485-96G>C Multiple submitters
- c.364-26G>C Multiple submitters
- c.494-136C>T Multiple submitters
- c.494-98G>T Multiple submitters
- c.556-117G>T Multiple submitters
- c.799-216C>T Multiple submitters
- c.901+76G>A Multiple submitters
- c.902-29G>A Multiple submitters
- p.Ala151= Multiple submitters
- p.Ala151Ser Multiple submitters ⚠
- p.Ile418= Multiple submitters
- c.117+314del Single submitter
- c.1251+221TTA[2] Single submitter
- c.1484+234G>A Single submitter
- c.1485-201_1485-199del Single submitter
- c.364-161G>A Single submitter
- c.364-189G>A Single submitter
- c.493+290T>C Single submitter
- c.494-189T>C Single submitter
- c.555+287A>G Single submitter
- c.556-324T>C Single submitter
- c.798+246G>T Single submitter
- c.799-317T>C Single submitter
- c.223-6dup No assertion criteria ALDH1A2-related disorder
- c.-6G>A No assertion criteria ALDH1A2-related disorder
- p.Thr245= No assertion criteria ALDH1A2-related disorder
Likely benign 9
Uncertain significance 36
- c.1087-1G>T Single submitter diaphragmatic hernia 4, with cardiovascular defects
- c.117+7508dup Single submitter diaphragmatic hernia 4, with cardiovascular defects
- p.Ala246Val Single submitter ⚠
- p.Ala308Val Single submitter ⚠
- p.Asn406Ile Single submitter ⚠
- p.Asn406Lys Single submitter ⚠
- p.Asn406Ser Single submitter ⚠
- p.Asp167Glu Single submitter ⚠
- p.Asp300Gly Single submitter ⚠
- p.Gln376Arg Single submitter ⚠
- p.Gln70His Single submitter ⚠
- p.Glu273Ala Single submitter ⚠
- p.Glu436Ala Single submitter ⚠
- p.Glu68Gly Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Ile177Thr Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Ile259Met Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Leu280Val Single submitter ⚠
- p.Lys345Met Single submitter ⚠
- p.Lys370Arg Single submitter ⚠
- p.Lys395Arg Single submitter ⚠
- p.Lys507Asn Single submitter ⚠
- p.Met8Leu Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro355Ser Single submitter ⚠
- p.Pro514Ala Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser278Asn Single submitter diaphragmatic hernia 4, with cardiovascular defects ⚠
- p.Ser461Cys Single submitter ⚠
- p.Thr284Ala Single submitter ⚠
- p.Trp470Arg Single submitter ⚠
- p.Tyr221His Single submitter ⚠
- p.Val207Ile Single submitter ⚠