ALDH16A1 — 108 ClinVar variants

All ClinVar germline ALDH16A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

1 Benign · 12 Likely benign · 95 Uncertain significance

Full ALDH16A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 47

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 50

The independent predictors disagree with each other — read with care.

All ALDH16A1 variants

Benign 1

c.577+10G>A Multiple submitters

Likely benign 12

p.Asp459Val Multiple submitters ⚠
p.Thr282= Multiple submitters
p.Ala263= Single submitter
p.Ala622= Single submitter
p.Arg107= Single submitter
p.Arg9Ser Single submitter
p.Gly264Glu Single submitter ⚠
p.Gly303Ser Single submitter
p.His96Leu Single submitter
p.Pro252Leu Single submitter
p.Pro487= Single submitter
p.Val418Leu Single submitter

Uncertain significance 95

p.Ala10Pro Single submitter ⚠
p.Ala189Thr Single submitter ⚠
p.Ala191Ser Single submitter ⚠
p.Ala211Ser Single submitter ⚠
p.Ala231Val Single submitter ⚠
p.Ala263Glu Single submitter ⚠
p.Ala263Ser Single submitter ⚠
p.Ala263Thr Single submitter ⚠
p.Ala267Gly Single submitter ⚠
p.Ala272Val Single submitter ⚠
p.Ala319Val Single submitter ⚠
p.Ala344Thr Single submitter ⚠
p.Ala349Ser Single submitter ⚠
p.Ala349Thr Single submitter ⚠
p.Ala573Thr Single submitter ⚠
p.Ala598Thr Single submitter ⚠
p.Ala620Val Single submitter ⚠
p.Arg129Trp Single submitter ⚠
p.Arg135Gln Single submitter ⚠
p.Arg256Cys Single submitter ⚠
p.Arg331Pro Single submitter ⚠
p.Arg377Cys Single submitter ⚠
p.Arg410Cys Single submitter ⚠
p.Arg410Pro Single submitter ⚠
p.Arg424His Single submitter ⚠
p.Arg486Trp Single submitter ⚠
p.Arg493Pro Single submitter ⚠
p.Arg535His Single submitter ⚠
p.Arg548Trp Single submitter ⚠
p.Arg632Gln Single submitter ⚠
p.Arg656His Single submitter ⚠
p.Arg773Trp Single submitter ⚠
p.Arg792Trp Single submitter ⚠
p.Asn387Ser Single submitter ⚠
p.Asn420Ser Single submitter ⚠
p.Asn45Ser Single submitter ⚠
p.Asp138Val Single submitter ⚠
p.Asp296His Single submitter ⚠
p.Cys28Ser Single submitter ⚠
p.Gln537His Single submitter ⚠
p.Glu268Asp Single submitter ⚠
p.Glu671Lys Single submitter ⚠
p.Gly167Glu Single submitter ⚠
p.Gly20Arg Single submitter ⚠
p.Gly20Glu Single submitter ⚠
p.Gly255Glu Single submitter ⚠
p.Gly255Val Single submitter ⚠
p.Gly305Arg Single submitter ⚠
p.Gly346Glu Single submitter ⚠
p.Gly688Ser Single submitter ⚠
p.Ile243Met Single submitter ⚠
p.Ile311Val Single submitter ⚠
p.Leu269Met Single submitter ⚠
p.Leu280Pro Single submitter ⚠
p.Leu336Val Single submitter ⚠
p.Leu650Val Single submitter ⚠
p.Leu798Arg Single submitter ⚠
p.Lys47Arg Single submitter ⚠
p.Met800Thr Single submitter ⚠
p.Phe177Leu Single submitter ⚠
p.Pro174Leu Single submitter ⚠
p.Pro23Ser Single submitter ⚠
p.Pro252Arg Single submitter ⚠
p.Pro304Leu Single submitter ⚠
p.Pro408Arg Single submitter ⚠
p.Pro515Leu Single submitter ⚠
p.Pro700Ser Single submitter ⚠
p.Pro784Ser Single submitter ⚠
p.Ser362Arg Single submitter ⚠
p.Ser375Ala Single submitter ⚠
p.Ser375Leu Single submitter ⚠
p.Ser544Phe Single submitter ⚠
p.Ser608Leu Single submitter ⚠
p.Thr176Ala Single submitter ⚠
p.Thr282Arg Single submitter ⚠
p.Thr513Ala Single submitter ⚠
p.Thr64Ala Single submitter ⚠
p.Trp451Arg Single submitter ⚠
p.Trp797Cys Single submitter ⚠
p.Tyr528Phe Single submitter ⚠
p.Tyr687Cys Single submitter ⚠
p.Val139Ile Single submitter ⚠
p.Val192Gly Single submitter ⚠
p.Val287Ala Single submitter ⚠
p.Val291Ala Single submitter ⚠
p.Val295Leu Single submitter ⚠
p.Val340Met Single submitter ⚠
p.Val353Leu Single submitter ⚠
p.Val405Met Single submitter ⚠
p.Val450Leu Single submitter ⚠
p.Val624Leu Single submitter ⚠
p.Val667Leu Single submitter ⚠
p.Val678Leu Single submitter ⚠
p.Val678Met Single submitter ⚠
p.Val99Ile Single submitter ⚠