ALDH8A1 — 54 ClinVar variants
All ClinVar germline ALDH8A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
2 Benign · 4 Likely benign · 48 Uncertain significance
Full ALDH8A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH8A1 p.Ala2Ser Uncertain significance Single submitter
- ALDH8A1 p.Arg213Met Uncertain significance Single submitter
- ALDH8A1 p.Asn12Asp Uncertain significance Single submitter
- ALDH8A1 p.Gln368Lys Uncertain significance Single submitter
- ALDH8A1 p.Glu181Asp Uncertain significance Single submitter
- ALDH8A1 p.Gly231Arg Uncertain significance Single submitter
- ALDH8A1 p.Gly256Ser Uncertain significance Single submitter
- ALDH8A1 p.Gly458Arg Uncertain significance Single submitter
- ALDH8A1 p.Gly464Ala Uncertain significance Single submitter
- ALDH8A1 p.His123Tyr Uncertain significance Single submitter
- ALDH8A1 p.Ile165Leu Uncertain significance Single submitter
- ALDH8A1 p.Ile326Thr Uncertain significance Single submitter
- ALDH8A1 p.Lys343Arg Uncertain significance Single submitter
- ALDH8A1 p.Lys416Gln Uncertain significance Single submitter
- ALDH8A1 p.Met105Val Uncertain significance Single submitter
- ALDH8A1 p.Pro20Ser Uncertain significance Single submitter
- ALDH8A1 p.Ser228Pro Uncertain significance Single submitter
- ALDH8A1 p.Thr140Pro Uncertain significance Single submitter
- ALDH8A1 p.Thr240Ser Uncertain significance Single submitter
- ALDH8A1 p.Thr4Ala Uncertain significance Single submitter
- ALDH8A1 p.Trp61Cys Uncertain significance Single submitter
- ALDH8A1 p.Val207Leu Uncertain significance Single submitter
- ALDH8A1 p.Val415Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ALDH8A1 p.Ala50Thr Uncertain significance Single submitter
- ALDH8A1 p.Ala54Thr Uncertain significance Single submitter
- ALDH8A1 p.Ala90Val Uncertain significance Single submitter
- ALDH8A1 p.Arg238Trp Uncertain significance Single submitter
- ALDH8A1 p.Arg312Ser Uncertain significance Single submitter
- ALDH8A1 p.Arg433Gln Uncertain significance Single submitter
- ALDH8A1 p.Arg433Trp Uncertain significance Single submitter
- ALDH8A1 p.Arg64His Uncertain significance Single submitter
- ALDH8A1 p.Asp269Asn Uncertain significance Single submitter
- ALDH8A1 p.Asp359Asn Uncertain significance Single submitter
- ALDH8A1 p.Asp359Gly Likely benign Single submitter
- ALDH8A1 p.Gly355Ser Uncertain significance Single submitter
- ALDH8A1 p.His334Gln Uncertain significance Single submitter
- ALDH8A1 p.Ile14Thr Uncertain significance Single submitter
- ALDH8A1 p.Ile14Val Uncertain significance Single submitter
- ALDH8A1 p.Lys93Asn Uncertain significance Single submitter
- ALDH8A1 p.Phe294Leu Uncertain significance Single submitter
- ALDH8A1 p.Ser331Thr Uncertain significance Single submitter
- ALDH8A1 p.Ser340Thr Uncertain significance Single submitter
- ALDH8A1 p.Ser425Thr Uncertain significance Single submitter
- ALDH8A1 p.Ser462Arg Uncertain significance Single submitter
- ALDH8A1 p.Thr162Ser Uncertain significance Single submitter
- ALDH8A1 p.Val141Ala Uncertain significance Single submitter
- ALDH8A1 p.Val203Met Uncertain significance Single submitter
- ALDH8A1 p.Val342Ile Likely benign Single submitter
- ALDH8A1 p.Val434Leu Uncertain significance Single submitter
- ALDH8A1 p.Val51Ile Uncertain significance Single submitter
All ALDH8A1 variants
Likely benign 4
- p.Asp359Gly Single submitter ⚠
- p.Lys297Arg Single submitter
- p.Val342Ile Single submitter ⚠
- p.Val399= Single submitter
Uncertain significance 48
- p.Ala2Ser Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala90Val Single submitter ⚠
- p.Arg213Met Single submitter ⚠
- p.Arg238Trp Single submitter ⚠
- p.Arg312Ser Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Asn12Asp Single submitter ⚠
- p.Asp269Asn Single submitter ⚠
- p.Asp359Asn Single submitter ⚠
- p.Gln368Lys Single submitter ⚠
- p.Glu181Asp Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly256Ser Single submitter ⚠
- p.Gly355Ser Single submitter ⚠
- p.Gly458Arg Single submitter ⚠
- p.Gly464Ala Single submitter ⚠
- p.His123Tyr Single submitter ⚠
- p.His334Gln Single submitter ⚠
- p.Ile14Thr Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Ile165Leu Single submitter ⚠
- p.Ile326Thr Single submitter ⚠
- p.Lys343Arg Single submitter ⚠
- p.Lys416Gln Single submitter ⚠
- p.Lys93Asn Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Phe294Leu Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Ser228Pro Single submitter ⚠
- p.Ser331Thr Single submitter ⚠
- p.Ser340Thr Single submitter ⚠
- p.Ser425Thr Single submitter ⚠
- p.Ser462Arg Single submitter ⚠
- p.Thr140Pro Single submitter ⚠
- p.Thr162Ser Single submitter ⚠
- p.Thr240Ser Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Trp61Cys Single submitter ⚠
- p.Val141Ala Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val207Leu Single submitter ⚠
- p.Val415Ile Single submitter ⚠
- p.Val434Leu Single submitter ⚠
- p.Val51Ile Single submitter ⚠