ALDH1A1 — 41 ClinVar variants
All ClinVar germline ALDH1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
3 Benign · 3 Likely benign · 35 Uncertain significance
Full ALDH1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH1A1 p.Arg131Cys Uncertain significance Single submitter
- ALDH1A1 p.Arg143His Uncertain significance Single submitter
- ALDH1A1 p.Arg321Gln Uncertain significance Single submitter
- ALDH1A1 p.Asp283Gly Uncertain significance Single submitter
- ALDH1A1 p.Asp436Asn Uncertain significance Single submitter
- ALDH1A1 p.Asp438Asn Uncertain significance Single submitter
- ALDH1A1 p.Cys303Tyr Uncertain significance Single submitter
- ALDH1A1 p.Gln51His Uncertain significance Single submitter
- ALDH1A1 p.Glu313Val Uncertain significance Single submitter
- ALDH1A1 p.Gly482Cys Uncertain significance Single submitter
- ALDH1A1 p.Ile177Thr Uncertain significance Single submitter
- ALDH1A1 p.Ile315Val Uncertain significance Single submitter
- ALDH1A1 p.Ile346Thr Uncertain significance Single submitter
- ALDH1A1 p.Ile437Asn Uncertain significance Single submitter
- ALDH1A1 p.Ile437Val Uncertain significance Single submitter
- ALDH1A1 p.Lys62Met Uncertain significance Single submitter
- ALDH1A1 p.Phe214Leu Uncertain significance Single submitter
- ALDH1A1 p.Phe24Ser Uncertain significance Single submitter
- ALDH1A1 p.Pro223Ser Uncertain significance Single submitter
- ALDH1A1 p.Pro223Thr Uncertain significance Single submitter
- ALDH1A1 p.Ser108Thr Uncertain significance Single submitter
- ALDH1A1 p.Ser207Ala Uncertain significance Single submitter
- ALDH1A1 p.Thr442Arg Uncertain significance Single submitter
- ALDH1A1 p.Thr442Lys Uncertain significance Single submitter
- ALDH1A1 p.Trp375Leu Uncertain significance Single submitter
- ALDH1A1 p.Val311Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ALDH1A1 p.Phe152Leu Benign Multiple submitters
- ALDH1A1 p.Ala137Val Uncertain significance Single submitter
- ALDH1A1 p.Asn150Ile Uncertain significance Single submitter
- ALDH1A1 p.Asn389Ser Uncertain significance Single submitter
- ALDH1A1 p.Asp240Asn Uncertain significance Single submitter
- ALDH1A1 p.Asp416Asn Uncertain significance Single submitter
- ALDH1A1 p.Lys362Glu Uncertain significance Single submitter
- ALDH1A1 p.Pro374Leu Uncertain significance Single submitter
All ALDH1A1 variants
Benign 3
- c.1200+8G>T Multiple submitters
- p.Phe152Leu Multiple submitters ⚠
- c.633+7C>A Single submitter
Uncertain significance 35
- p.Ala137Val Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg321Ter Single submitter
- p.Asn150Ile Single submitter ⚠
- p.Asn389Ser Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp283Gly Single submitter ⚠
- p.Asp416Asn Single submitter ⚠
- p.Asp436Asn Single submitter ⚠
- p.Asp438Asn Single submitter ⚠
- p.Cys303Tyr Single submitter ⚠
- p.Gln51His Single submitter ⚠
- p.Glu313Val Single submitter ⚠
- p.Gly482Cys Single submitter ⚠
- p.Ile177Thr Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile346Thr Single submitter ⚠
- p.Ile437Asn Single submitter ⚠
- p.Ile437Val Single submitter ⚠
- p.Leu184Met Single submitter
- p.Lys362Glu Single submitter ⚠
- p.Lys62Met Single submitter ⚠
- p.Phe214Leu Single submitter ⚠
- p.Phe24Ser Single submitter ⚠
- p.Pro223Ser Single submitter ⚠
- p.Pro223Thr Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Ser108Thr Single submitter ⚠
- p.Ser207Ala Single submitter ⚠
- p.Thr442Arg Single submitter ⚠
- p.Thr442Lys Single submitter ⚠
- p.Trp375Leu Single submitter ⚠
- p.Val311Ala Single submitter ⚠