ALDH1B1 — 78 ClinVar variants
All ClinVar germline ALDH1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Likely pathogenic · 11 Benign · 4 Likely benign · 62 Uncertain significance
Full ALDH1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH1B1 p.Met191Val Uncertain significance Multiple submitters
-
ALDH1B1 p.Val470Ala
Uncertain significance
Multiple submitters
complex neurodevelopmental disorder
- ALDH1B1 p.Ala382Thr Uncertain significance Single submitter
- ALDH1B1 p.Ala446Val Uncertain significance Single submitter
- ALDH1B1 p.Ala74Ser Uncertain significance Single submitter
- ALDH1B1 p.Arg18Cys Uncertain significance Single submitter
- ALDH1B1 p.Arg18His Uncertain significance Single submitter
- ALDH1B1 p.Arg324Gln Uncertain significance Single submitter
- ALDH1B1 p.Arg394Gly Uncertain significance Single submitter
- ALDH1B1 p.Arg394His Uncertain significance Single submitter
- ALDH1B1 p.Arg73Gln Uncertain significance Single submitter
- ALDH1B1 p.Asn106Lys Uncertain significance Single submitter
- ALDH1B1 p.Asn439Lys Uncertain significance Single submitter
- ALDH1B1 p.Asp276Asn Uncertain significance Single submitter
- ALDH1B1 p.Asp408Val Uncertain significance Single submitter
- ALDH1B1 p.Asp497Asn Uncertain significance Single submitter
- ALDH1B1 p.Asp497Glu Uncertain significance Single submitter
- ALDH1B1 p.Gln375His Uncertain significance Single submitter
- ALDH1B1 p.Glu212Lys Uncertain significance Single submitter
- ALDH1B1 p.Gly242Val Uncertain significance Single submitter
- ALDH1B1 p.Gly262Arg Uncertain significance Single submitter
- ALDH1B1 p.Gly483Glu Uncertain significance Single submitter
- ALDH1B1 p.Gly62Trp Uncertain significance Single submitter
- ALDH1B1 p.Ile161Thr Uncertain significance Single submitter
- ALDH1B1 p.Ile161Val Uncertain significance Single submitter
- ALDH1B1 p.Ile29Val Uncertain significance Single submitter
- ALDH1B1 p.Ile417Met Uncertain significance Single submitter
- ALDH1B1 p.Ile65Val Uncertain significance Single submitter
- ALDH1B1 p.Leu216Val Uncertain significance Single submitter
- ALDH1B1 p.Lys51Arg Uncertain significance Single submitter
- ALDH1B1 p.Met191Thr Uncertain significance Single submitter
- ALDH1B1 p.Phe187Val Uncertain significance Single submitter
- ALDH1B1 p.Phe313Ser Uncertain significance Single submitter
- ALDH1B1 p.Phe418Ser Uncertain significance Single submitter
- ALDH1B1 p.Pro291Arg Uncertain significance Single submitter
- ALDH1B1 p.Pro32Gln Uncertain significance Single submitter
- ALDH1B1 p.Thr214Ile Uncertain significance Single submitter
- ALDH1B1 p.Thr472Ile Uncertain significance Single submitter
- ALDH1B1 p.Thr60Asn Uncertain significance Single submitter
- ALDH1B1 p.Val112Gly Uncertain significance Single submitter
- ALDH1B1 p.Val145Ala Uncertain significance Single submitter
- ALDH1B1 p.Val406Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ALDH1B1 p.Arg107Leu Benign Multiple submitters
- ALDH1B1 p.Pro215Ser Uncertain significance Multiple submitters
- ALDH1B1 p.Ala247Val Uncertain significance Single submitter
- ALDH1B1 p.Ala274Val Uncertain significance Single submitter
- ALDH1B1 p.Arg103Trp Uncertain significance Single submitter
- ALDH1B1 p.Arg172Gly Uncertain significance Single submitter
- ALDH1B1 p.Arg390Cys Uncertain significance Single submitter
- ALDH1B1 p.Arg451Trp Uncertain significance Single submitter
- ALDH1B1 p.Arg95Trp Uncertain significance Single submitter
- ALDH1B1 p.Asn438Ser Uncertain significance Single submitter
- ALDH1B1 p.Asp138His Uncertain significance Single submitter
- ALDH1B1 p.Glu368Val Uncertain significance Single submitter
- ALDH1B1 p.His302Pro Uncertain significance Single submitter
- ALDH1B1 p.Leu111Val Uncertain significance Single submitter
- ALDH1B1 p.Met96Lys Uncertain significance Single submitter
- ALDH1B1 p.Pro55Leu Uncertain significance Single submitter
- ALDH1B1 p.Thr56Met Uncertain significance Single submitter
- ALDH1B1 p.Val348Ala Uncertain significance Single submitter
All ALDH1B1 variants
Likely pathogenic 1
- p.Val255Ala Single submitter
Benign 11
- c.*56G>C Multiple submitters
- p.Ala86Val Multiple submitters
- p.Arg107Leu Multiple submitters ⚠
- p.Ile65= Multiple submitters
- p.Lys209= Multiple submitters
- p.Thr61= Multiple submitters
- p.Val176Ile Multiple submitters
- p.Val253Met Multiple submitters
- p.Val433= Multiple submitters
- p.Ala446= Single submitter
- p.Thr261= Single submitter
Likely benign 4
- p.Arg451Gln Multiple submitters
- p.Arg95Gln Single submitter
- p.Gly193fs Single submitter
- p.Gly388fs Single submitter
Uncertain significance 62
- p.Met191Val Multiple submitters ⚠
- p.Pro215Ser Multiple submitters ⚠
- p.Val470Ala Multiple submitters complex neurodevelopmental disorder ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala74Ser Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg172Gly Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg324Gln Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg394Gly Single submitter ⚠
- p.Arg394His Single submitter ⚠
- p.Arg451Trp Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Arg94His Single submitter
- p.Arg95Trp Single submitter ⚠
- p.Asn106Lys Single submitter ⚠
- p.Asn438Ser Single submitter ⚠
- p.Asn439Lys Single submitter ⚠
- p.Asp138His Single submitter ⚠
- p.Asp276Asn Single submitter ⚠
- p.Asp408Val Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Asp497Glu Single submitter ⚠
- p.Gln375His Single submitter ⚠
- p.Glu133Gly Single submitter
- p.Glu212Lys Single submitter ⚠
- p.Glu368Val Single submitter ⚠
- p.Gly242Val Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly483Glu Single submitter ⚠
- p.Gly62Trp Single submitter ⚠
- p.His302Pro Single submitter ⚠
- p.Ile161Thr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile29Val Single submitter ⚠
- p.Ile417Met Single submitter ⚠
- p.Ile65Val Single submitter ⚠
- p.Leu111Val Single submitter ⚠
- p.Leu216Val Single submitter ⚠
- p.Lys51Arg Single submitter ⚠
- p.Met191Thr Single submitter ⚠
- p.Met96Lys Single submitter ⚠
- p.Phe187Val Single submitter ⚠
- p.Phe313Ser Single submitter ⚠
- p.Phe418Ser Single submitter ⚠
- p.Pro291Arg Single submitter ⚠
- p.Pro32Gln Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Thr214Ile Single submitter ⚠
- p.Thr472Ile Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Thr60Asn Single submitter ⚠
- p.Val112Gly Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Val145Met Single submitter
- p.Val348Ala Single submitter ⚠
- p.Val406Met Single submitter ⚠