ALDH1L1 — 121 ClinVar variants
All ClinVar germline ALDH1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
11 Benign · 1 Benign/Likely benign · 5 Likely benign · 104 Uncertain significance
Full ALDH1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH1L1 p.Ala137Thr Uncertain significance Single submitter
- ALDH1L1 p.Ala260Thr Uncertain significance Single submitter
- ALDH1L1 p.Ala412Ser Uncertain significance Single submitter
- ALDH1L1 p.Ala616Pro Uncertain significance Single submitter
- ALDH1L1 p.Arg181Thr Uncertain significance Single submitter
- ALDH1L1 p.Arg396Gln Uncertain significance Single submitter
- ALDH1L1 p.Arg487Gln Uncertain significance Single submitter
- ALDH1L1 p.Arg732Gln Uncertain significance Single submitter
- ALDH1L1 p.Asn291Ser Uncertain significance Single submitter
- ALDH1L1 p.Asn702Ile Uncertain significance Single submitter
- ALDH1L1 p.Asn777Ile Uncertain significance Single submitter
- ALDH1L1 p.Asp369Val Uncertain significance Single submitter
- ALDH1L1 p.Asp36Asn Uncertain significance Single submitter
- ALDH1L1 p.Asp817Asn Uncertain significance Single submitter
- ALDH1L1 p.Asp867Asn Uncertain significance Single submitter
- ALDH1L1 p.Gln293His Uncertain significance Single submitter
- ALDH1L1 p.Gln877His Uncertain significance Single submitter
- ALDH1L1 p.Gln8His Uncertain significance Single submitter
- ALDH1L1 p.Glu401Asp Uncertain significance Single submitter
- ALDH1L1 p.Gly115Glu Uncertain significance Single submitter
- ALDH1L1 p.Gly172Asp Uncertain significance Single submitter
- ALDH1L1 p.Gly486Cys Uncertain significance Single submitter
- ALDH1L1 p.Gly647Arg Uncertain significance Single submitter
- ALDH1L1 p.Gly879Val Uncertain significance Single submitter
- ALDH1L1 p.His657Arg Uncertain significance Single submitter
- ALDH1L1 p.Ile596Leu Uncertain significance Single submitter
- ALDH1L1 p.Ile664Val Uncertain significance Single submitter
- ALDH1L1 p.Ile682Val Uncertain significance Single submitter
- ALDH1L1 p.Ile719Asn Uncertain significance Single submitter
- ALDH1L1 p.Ile719Thr Uncertain significance Single submitter
- ALDH1L1 p.Leu242Val Uncertain significance Single submitter
- ALDH1L1 p.Leu517Pro Uncertain significance Single submitter
- ALDH1L1 p.Leu580Pro Uncertain significance Single submitter
- ALDH1L1 p.Leu80Phe Uncertain significance Single submitter
- ALDH1L1 p.Met380Leu Uncertain significance Single submitter
- ALDH1L1 p.Phe85Ser Uncertain significance Single submitter
- ALDH1L1 p.Pro421Ser Uncertain significance Single submitter
- ALDH1L1 p.Pro598Thr Uncertain significance Single submitter
- ALDH1L1 p.Ser117Leu Uncertain significance Single submitter
- ALDH1L1 p.Ser96Gly Uncertain significance Single submitter
- ALDH1L1 p.Thr199Ile Uncertain significance Single submitter
- ALDH1L1 p.Thr441Asn Uncertain significance Single submitter
- ALDH1L1 p.Thr529Asn Uncertain significance Single submitter
- ALDH1L1 p.Thr529Ile Uncertain significance Single submitter
- ALDH1L1 p.Thr557Ile Uncertain significance Single submitter
- ALDH1L1 p.Thr584Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr830Ser Uncertain significance Single submitter
- ALDH1L1 p.Tyr16His Uncertain significance Single submitter
- ALDH1L1 p.Val15Phe Uncertain significance Single submitter
- ALDH1L1 p.Val272Asp Uncertain significance Single submitter
- ALDH1L1 p.Val5Ala Uncertain significance Single submitter
- ALDH1L1 p.Val667Met Uncertain significance Single submitter
- ALDH1L1 p.Val849Asp Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- ALDH1L1 p.Ala835Ser Benign Multiple submitters
- ALDH1L1 p.Ala179Gly Uncertain significance Single submitter
- ALDH1L1 p.Ala260Asp Uncertain significance Single submitter
- ALDH1L1 p.Ala381Gly Uncertain significance Single submitter
- ALDH1L1 p.Ala482Thr Uncertain significance Single submitter
- ALDH1L1 p.Ala65Thr Uncertain significance Single submitter
- ALDH1L1 p.Ala870Thr Uncertain significance Single submitter
- ALDH1L1 p.Ala870Val Uncertain significance Single submitter
- ALDH1L1 p.Arg416Cys Uncertain significance Single submitter
- ALDH1L1 p.Arg419Leu Uncertain significance Single submitter
- ALDH1L1 p.Arg476Trp Uncertain significance Single submitter
- ALDH1L1 p.Arg531His Uncertain significance Single submitter
- ALDH1L1 p.Arg58Trp Uncertain significance Single submitter
- ALDH1L1 p.Arg60Cys Uncertain significance Single submitter
- ALDH1L1 p.Arg781Trp Uncertain significance Single submitter
- ALDH1L1 p.Asp139Asn Uncertain significance Single submitter
- ALDH1L1 p.Asp296Tyr Uncertain significance Single submitter
- ALDH1L1 p.Asp398His Benign Single submitter
- ALDH1L1 p.Asp685Asn Uncertain significance Single submitter
- ALDH1L1 p.Cys774Tyr Uncertain significance Single submitter
- ALDH1L1 p.Glu151Lys Uncertain significance Single submitter
- ALDH1L1 p.Glu340Gly Uncertain significance Single submitter
- ALDH1L1 p.Glu362Ala Uncertain significance Single submitter
- ALDH1L1 p.Glu403Lys Uncertain significance Single submitter
- ALDH1L1 p.Glu440Lys Uncertain significance Single submitter
- ALDH1L1 p.Gly23Asp Benign Single submitter
- ALDH1L1 p.Gly427Ala Uncertain significance Single submitter
- ALDH1L1 p.Gly50Arg Uncertain significance Single submitter
- ALDH1L1 p.Ile220Val Uncertain significance Single submitter
- ALDH1L1 p.Leu10Pro Uncertain significance Single submitter
- ALDH1L1 p.Leu373Ile Uncertain significance Single submitter
- ALDH1L1 p.Leu604Ile Uncertain significance Single submitter
- ALDH1L1 p.Lys48Asn Uncertain significance Single submitter
- ALDH1L1 p.Lys690Glu Uncertain significance Single submitter
- ALDH1L1 p.Lys876Arg Uncertain significance Single submitter
- ALDH1L1 p.Met92Thr Uncertain significance Single submitter
- ALDH1L1 p.Pro156Arg Uncertain significance Single submitter
- ALDH1L1 p.Pro269Thr Uncertain significance Single submitter
- ALDH1L1 p.Ser344Phe Uncertain significance Single submitter
- ALDH1L1 p.Thr159Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr248Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr417Ile Uncertain significance Single submitter
- ALDH1L1 p.Thr441Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr744Ile Uncertain significance Single submitter
- ALDH1L1 p.Thr771Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr789Ala Uncertain significance Single submitter
- ALDH1L1 p.Thr862Met Uncertain significance Single submitter
- ALDH1L1 p.Val177Met Uncertain significance Single submitter
- ALDH1L1 p.Val26Met Uncertain significance Single submitter
- ALDH1L1 p.Val355Gly Uncertain significance Single submitter
- ALDH1L1 p.Val409Met Benign Single submitter
- ALDH1L1 p.Val431Leu Uncertain significance Single submitter
- ALDH1L1 p.Val594Met Uncertain significance Single submitter
- ALDH1L1 p.Val823Met Uncertain significance Single submitter
-
ALDH1L1 p.Lys174Glu
Uncertain significance
No assertion criteria
High myopia
All ALDH1L1 variants
Benign 11
- c.128-9G>A Multiple submitters
- c.2453+6G>A Multiple submitters
- c.631-5C>T Multiple submitters
- p.Ala835Ser Multiple submitters ⚠
- p.Gln778= Multiple submitters
- p.Leu147= Multiple submitters
- p.Asp398His Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Phe384= Single submitter
- p.Thr445= Single submitter
- p.Val409Met Single submitter ⚠
Benign/Likely benign 1
- p.Thr243= Multiple submitters
Likely benign 5
- p.Ala78= Multiple submitters
- p.Arg99Gln Single submitter
- p.Thr143= Single submitter
- p.Thr159= Single submitter
- p.Val895Ile Single submitter
Uncertain significance 104
- p.Ala137Thr Single submitter ⚠
- p.Ala179Gly Single submitter ⚠
- p.Ala260Asp Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Ala381Gly Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala482Thr Single submitter ⚠
- p.Ala616Pro Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Ala870Val Single submitter ⚠
- p.Arg181Thr Single submitter ⚠
- p.Arg396Gln Single submitter ⚠
- p.Arg416Cys Single submitter ⚠
- p.Arg419Leu Single submitter ⚠
- p.Arg476Trp Single submitter ⚠
- p.Arg487Gln Single submitter ⚠
- p.Arg531His Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Arg732Gln Single submitter ⚠
- p.Arg781Trp Single submitter ⚠
- p.Asn291Ser Single submitter ⚠
- p.Asn702Ile Single submitter ⚠
- p.Asn777Ile Single submitter ⚠
- p.Asp139Asn Single submitter ⚠
- p.Asp296Tyr Single submitter ⚠
- p.Asp369Val Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp685Asn Single submitter ⚠
- p.Asp817Asn Single submitter ⚠
- p.Asp867Asn Single submitter ⚠
- p.Cys774Tyr Single submitter ⚠
- p.Gln293His Single submitter ⚠
- p.Gln877His Single submitter ⚠
- p.Gln8His Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu340Gly Single submitter ⚠
- p.Glu362Ala Single submitter ⚠
- p.Glu401Asp Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu440Lys Single submitter ⚠
- p.Gly115Glu Single submitter ⚠
- p.Gly172Asp Single submitter ⚠
- p.Gly427Ala Single submitter ⚠
- p.Gly486Cys Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly647Arg Single submitter ⚠
- p.Gly879Val Single submitter ⚠
- p.His657Arg Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile596Leu Single submitter ⚠
- p.Ile664Val Single submitter ⚠
- p.Ile682Val Single submitter ⚠
- p.Ile719Asn Single submitter ⚠
- p.Ile719Thr Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu242Val Single submitter ⚠
- p.Leu373Ile Single submitter ⚠
- p.Leu517Pro Single submitter ⚠
- p.Leu580Pro Single submitter ⚠
- p.Leu604Ile Single submitter ⚠
- p.Leu80Phe Single submitter ⚠
- p.Lys48Asn Single submitter ⚠
- p.Lys690Glu Single submitter ⚠
- p.Lys876Arg Single submitter ⚠
- p.Met380Leu Single submitter ⚠
- p.Met92Thr Single submitter ⚠
- p.Phe85Ser Single submitter ⚠
- p.Pro156Arg Single submitter ⚠
- p.Pro269Thr Single submitter ⚠
- p.Pro421Ser Single submitter ⚠
- p.Pro598Thr Single submitter ⚠
- p.Ser117Leu Single submitter ⚠
- p.Ser344Phe Single submitter ⚠
- p.Ser96Gly Single submitter ⚠
- p.Thr159Ala Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr417Ile Single submitter ⚠
- p.Thr441Ala Single submitter ⚠
- p.Thr441Asn Single submitter ⚠
- p.Thr529Asn Single submitter ⚠
- p.Thr529Ile Single submitter ⚠
- p.Thr557Ile Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr744Ile Single submitter ⚠
- p.Thr771Ala Single submitter ⚠
- p.Thr789Ala Single submitter ⚠
- p.Thr830Ser Single submitter ⚠
- p.Thr862Met Single submitter ⚠
- p.Tyr16His Single submitter ⚠
- p.Val15Phe Single submitter ⚠
- p.Val177Met Single submitter ⚠
- p.Val26Met Single submitter ⚠
- p.Val272Asp Single submitter ⚠
- p.Val355Gly Single submitter ⚠
- p.Val431Leu Single submitter ⚠
- p.Val594Met Single submitter ⚠
- p.Val5Ala Single submitter ⚠
- p.Val667Met Single submitter ⚠
- p.Val823Met Single submitter ⚠
- p.Val849Asp Single submitter ⚠
- p.Lys174Glu No assertion criteria High myopia ⚠