AKR1B15 — 64 ClinVar variants
All ClinVar germline AKR1B15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Conflicting · 3 Benign · 4 Likely benign · 56 Uncertain significance
Full AKR1B15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKR1B15 p.Asn301Ser Uncertain significance Single submitter
- AKR1B15 p.Asp328Glu Uncertain significance Single submitter
- AKR1B15 p.Gln142Arg Uncertain significance Single submitter
- AKR1B15 p.Glu331Gln Uncertain significance Single submitter
- AKR1B15 p.Gly164Val Uncertain significance Single submitter
- AKR1B15 p.His139Tyr Uncertain significance Single submitter
- AKR1B15 p.Leu52Arg Uncertain significance Single submitter
- AKR1B15 p.Lys55Glu Uncertain significance Single submitter
- AKR1B15 p.Phe307Leu Uncertain significance Single submitter
- AKR1B15 p.Trp170Cys Uncertain significance Single submitter
- AKR1B15 p.Val276Phe Uncertain significance Single submitter
- AKR1B15 p.Val56Ala Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- AKR1B15 p.Ala274Gly Uncertain significance Single submitter
- AKR1B15 p.Ala274Thr Uncertain significance Single submitter
- AKR1B15 p.Ala59Val Uncertain significance Single submitter
- AKR1B15 p.Ala95Asp Uncertain significance Single submitter
- AKR1B15 p.Arg114Gly Uncertain significance Single submitter
- AKR1B15 p.Arg279Cys Uncertain significance Single submitter
- AKR1B15 p.Arg279His Uncertain significance Single submitter
- AKR1B15 p.Arg69His Uncertain significance Single submitter
- AKR1B15 p.Asp154Gly Uncertain significance Single submitter
- AKR1B15 p.Asp155Val Uncertain significance Single submitter
- AKR1B15 p.Gln275Arg Uncertain significance Single submitter
- AKR1B15 p.Gln88His Uncertain significance Single submitter
- AKR1B15 p.Glu113Ala Uncertain significance Single submitter
- AKR1B15 p.Glu175Lys Uncertain significance Single submitter
- AKR1B15 p.Glu175Val Uncertain significance Single submitter
- AKR1B15 p.Glu179Lys Uncertain significance Single submitter
- AKR1B15 p.Glu196Lys Uncertain significance Single submitter
- AKR1B15 p.Glu331Lys Uncertain significance Single submitter
- AKR1B15 p.Glu82Asp Uncertain significance Single submitter
- AKR1B15 p.Glu99Lys Uncertain significance Single submitter
- AKR1B15 p.Gly180Glu Uncertain significance Single submitter
- AKR1B15 p.Ile103Val Conflicting Single submitter
- AKR1B15 p.Ile225Thr Uncertain significance Single submitter
- AKR1B15 p.Ile282Thr Uncertain significance Single submitter
- AKR1B15 p.Ile298Leu Uncertain significance Single submitter
- AKR1B15 p.Ile87Val Uncertain significance Single submitter
- AKR1B15 p.Lys205Asn Uncertain significance Single submitter
- AKR1B15 p.Lys231Thr Uncertain significance Single submitter
- AKR1B15 p.Met173Val Uncertain significance Single submitter
- AKR1B15 p.Met314Val Uncertain significance Single submitter
- AKR1B15 p.Pro202Ala Uncertain significance Single submitter
- AKR1B15 p.Pro202Ser Uncertain significance Single submitter
- AKR1B15 p.Pro244Leu Uncertain significance Single submitter
- AKR1B15 p.Pro251Leu Uncertain significance Single submitter
- AKR1B15 p.Pro295Leu Uncertain significance Single submitter
- AKR1B15 p.Ser51Pro Uncertain significance Single submitter
- AKR1B15 p.Thr272Asn Uncertain significance Single submitter
- AKR1B15 p.Thr294Ile Uncertain significance Single submitter
- AKR1B15 p.Tyr136Cys Uncertain significance Single submitter
- AKR1B15 p.Tyr218Cys Uncertain significance Single submitter
- AKR1B15 p.Val104Ile Uncertain significance Single submitter
- AKR1B15 p.Val286Met Uncertain significance Single submitter
- AKR1B15 p.Val288Leu Uncertain significance Single submitter
- AKR1B15 p.Val96Ala Uncertain significance Single submitter
- AKR1B15 p.Val96Met Uncertain significance Single submitter
All AKR1B15 variants
Conflicting classifications of pathogenicity 1
- p.Ile103Val Single submitter ⚠
Benign 3
- p.Glu85= Multiple submitters
- c.909+10C>T Single submitter
- p.Thr165= Single submitter
Likely benign 4
- p.Arg197Lys Single submitter
- p.Asp328Asn Single submitter
- p.Phe327Cys Single submitter
- p.Thr287Ile Single submitter
Uncertain significance 56
- p.Ala274Gly Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Ala95Asp Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Asn301Ser Single submitter ⚠
- p.Asp154Gly Single submitter ⚠
- p.Asp155Val Single submitter ⚠
- p.Asp328Glu Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gln275Arg Single submitter ⚠
- p.Gln88His Single submitter ⚠
- p.Glu113Ala Single submitter ⚠
- p.Glu175Lys Single submitter ⚠
- p.Glu175Val Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu331Gln Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu82Asp Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly164Val Single submitter ⚠
- p.Gly180Glu Single submitter ⚠
- p.His139Tyr Single submitter ⚠
- p.Ile225Thr Single submitter ⚠
- p.Ile282Thr Single submitter ⚠
- p.Ile298Leu Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Leu52Arg Single submitter ⚠
- p.Lys205Asn Single submitter ⚠
- p.Lys231Thr Single submitter ⚠
- p.Lys55Glu Single submitter ⚠
- p.Met173Val Single submitter ⚠
- p.Met314Val Single submitter ⚠
- p.Phe307Leu Single submitter ⚠
- p.Pro202Ala Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro251Leu Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Ser51Pro Single submitter ⚠
- p.Thr272Asn Single submitter ⚠
- p.Thr294Ile Single submitter ⚠
- p.Trp170Cys Single submitter ⚠
- p.Tyr136Cys Single submitter ⚠
- p.Tyr218Cys Single submitter ⚠
- p.Val104Ile Single submitter ⚠
- p.Val276Phe Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val288Leu Single submitter ⚠
- p.Val56Ala Single submitter ⚠
- p.Val96Ala Single submitter ⚠
- p.Val96Met Single submitter ⚠