AKR1E2 — 153 ClinVar variants
All ClinVar germline AKR1E2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
75 Benign · 12 Likely benign · 66 Uncertain significance
Full AKR1E2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKR1E2 p.Ala242Val Uncertain significance Single submitter
- AKR1E2 p.Ala58Thr Uncertain significance Single submitter
- AKR1E2 p.Arg129Leu Uncertain significance Single submitter
- AKR1E2 p.Arg255Pro Uncertain significance Single submitter
- AKR1E2 p.Asn182Ser Uncertain significance Single submitter
- AKR1E2 p.Cys52Arg Uncertain significance Single submitter
- AKR1E2 p.Gln176His Uncertain significance Single submitter
- AKR1E2 p.Gly168Arg Uncertain significance Single submitter
- AKR1E2 p.Gly224Asp Uncertain significance Single submitter
- AKR1E2 p.Gly30Val Uncertain significance Single submitter
- AKR1E2 p.His102Gln Uncertain significance Single submitter
- AKR1E2 p.His174Arg Uncertain significance Single submitter
- AKR1E2 p.Ile160Met Uncertain significance Single submitter
- AKR1E2 p.Ile241Val Uncertain significance Single submitter
- AKR1E2 p.Ile307Val Uncertain significance Single submitter
- AKR1E2 p.Ile318Thr Uncertain significance Single submitter
- AKR1E2 p.Leu121Phe Uncertain significance Single submitter
- AKR1E2 p.Lys243Arg Uncertain significance Single submitter
- AKR1E2 p.Met105Val Uncertain significance Single submitter
- AKR1E2 p.Met140Val Uncertain significance Single submitter
- AKR1E2 p.Met304Val Uncertain significance Single submitter
- AKR1E2 p.Phe305Ser Uncertain significance Single submitter
- AKR1E2 p.Pro110Leu Uncertain significance Single submitter
- AKR1E2 p.Pro266Arg Uncertain significance Single submitter
- AKR1E2 p.Ser122Phe Uncertain significance Single submitter
- AKR1E2 p.Thr161Ser Uncertain significance Single submitter
- AKR1E2 p.Trp152Cys Uncertain significance Single submitter
- AKR1E2 p.Val215Gly Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- AKR1E2 p.Asp35Asn Benign Multiple submitters
- AKR1E2 p.Leu186Trp Benign Multiple submitters
- AKR1E2 p.Ala22Val Uncertain significance Single submitter
- AKR1E2 p.Arg255Gln Uncertain significance Single submitter
- AKR1E2 p.Arg32Trp Uncertain significance Single submitter
- AKR1E2 p.Arg51Cys Uncertain significance Single submitter
- AKR1E2 p.Arg61Gln Uncertain significance Single submitter
- AKR1E2 p.Arg61Trp Uncertain significance Single submitter
- AKR1E2 p.Asn139Thr Uncertain significance Single submitter
- AKR1E2 p.Asn173Ser Uncertain significance Single submitter
- AKR1E2 p.Asn42Ser Uncertain significance Single submitter
- AKR1E2 p.Asp157Tyr Uncertain significance Single submitter
- AKR1E2 p.Asp289Asn Uncertain significance Single submitter
- AKR1E2 p.Asp289His Uncertain significance Single submitter
- AKR1E2 p.Glu137Lys Uncertain significance Single submitter
- AKR1E2 p.Glu276Gly Uncertain significance Single submitter
- AKR1E2 p.Gly162Arg Uncertain significance Single submitter
- AKR1E2 p.Gly229Glu Uncertain significance Single submitter
- AKR1E2 p.Leu100Phe Uncertain significance Single submitter
- AKR1E2 p.Lys53Asn Uncertain significance Single submitter
- AKR1E2 p.Phe281Ser Uncertain significance Single submitter
- AKR1E2 p.Pro184Ser Uncertain significance Single submitter
- AKR1E2 p.Pro236Ala Uncertain significance Single submitter
- AKR1E2 p.Pro236Ser Uncertain significance Single submitter
- AKR1E2 p.Ser216Tyr Uncertain significance Single submitter
- AKR1E2 p.Ser248Ala Uncertain significance Single submitter
- AKR1E2 p.Ser248Tyr Uncertain significance Single submitter
- AKR1E2 p.Thr146Met Uncertain significance Single submitter
- AKR1E2 p.Thr151Met Uncertain significance Single submitter
- AKR1E2 p.Thr270Ile Uncertain significance Single submitter
- AKR1E2 p.Thr68Asn Uncertain significance Single submitter
- AKR1E2 p.Thr68Pro Uncertain significance Single submitter
- AKR1E2 p.Trp103Cys Uncertain significance Single submitter
- AKR1E2 p.Trp12Arg Uncertain significance Single submitter
- AKR1E2 p.Tyr200Cys Uncertain significance Single submitter
- AKR1E2 p.Tyr95Cys Uncertain significance Single submitter
- AKR1E2 p.Tyr99Cys Uncertain significance Single submitter
- AKR1E2 p.Val217Met Uncertain significance Single submitter
- AKR1E2 p.Val7Leu Uncertain significance Single submitter
All AKR1E2 variants
Benign 75
- c.207+72T>C Multiple submitters
- c.208-87C>T Multiple submitters
- c.324+6G>A Multiple submitters
- c.39+10T>C Multiple submitters
- c.40-180T>G Multiple submitters
- c.40-98T>C Multiple submitters
- c.459+80G>A Multiple submitters
- c.460-186T>C Multiple submitters
- c.583-54C>T Multiple submitters
- c.583-75C>T Multiple submitters
- c.583-98C>G Multiple submitters
- c.680+77C>T Multiple submitters
- c.753+27A>G Multiple submitters
- c.754-166G>T Multiple submitters
- c.754-187C>G Multiple submitters
- c.837+104A>G Multiple submitters
- c.837+112T>C Multiple submitters
- c.837+25G>A Multiple submitters
- c.837+88T>C Multiple submitters
- c.920+103T>C Multiple submitters
- c.920+53G>T Multiple submitters
- c.921-18T>G Multiple submitters
- c.921-40T>C Multiple submitters
- c.-72G>T Multiple submitters
- c.*10C>T Multiple submitters
- c.*252G>A Multiple submitters
- c.*48T>C Multiple submitters
- c.*84C>T Multiple submitters
- c.*8T>A Multiple submitters
- p.Arg301Ter Multiple submitters
- p.Asn261= Multiple submitters
- p.Asp28= Multiple submitters
- p.Asp35Asn Multiple submitters ⚠
- p.Leu186Trp Multiple submitters ⚠
- p.Lys86Arg Multiple submitters
- p.Pro199= Multiple submitters
- p.Thr20= Multiple submitters
- c.208-142C>T Single submitter
- c.208-266C>T Single submitter
- c.208-280A>G Single submitter
- c.324+236G>T Single submitter
- c.324+265A>G Single submitter
- c.325-52TTTTG[5] Single submitter
- c.40-207del Single submitter
- c.40-250C>T Single submitter
- c.40-294G>A Single submitter
- c.40-311C>G Single submitter
- c.459+131A>C Single submitter
- c.459+146C>T Single submitter
- c.459+203T>C Single submitter
- c.459+231A>G Single submitter
- c.459+274T>G Single submitter
- c.459+314C>T Single submitter
- c.459+318T>C Single submitter
- c.459+320C>T Single submitter
- c.460-226A>G Single submitter
- c.460-238T>C Single submitter
- c.460-271C>T Single submitter
- c.460-279C>G Single submitter
- c.582+142T>C Single submitter
- c.582+304T>C Single submitter
- c.583-274_583-271del Single submitter
- c.681-213G>A Single submitter
- c.681-227T>A Single submitter
- c.681-241A>G Single submitter
- c.681-252T>C Single submitter
- c.681-269G>A Single submitter
- c.753+162C>T Single submitter
- c.753+168T>C Single submitter
- c.753+195C>T Single submitter
- c.753+273A>C Single submitter
- c.837+151dup Single submitter
- c.837+267T>A Single submitter
- c.838-201C>A Single submitter
- c.*4_*5insA Single submitter
Likely benign 12
- c.325-48G>T Multiple submitters
- c.325-50T>G Multiple submitters
- c.460-83A>C Multiple submitters
- c.837+114C>T Multiple submitters
- c.324+216G>T Single submitter
- c.325-33_325-31del Single submitter
- c.39+268T>C Single submitter
- c.39+315T>C Single submitter
- p.Asp132fs Single submitter
- p.Cys52Gly Single submitter
- p.Gln203fs Single submitter
- p.Pro110Arg Single submitter
Uncertain significance 66
- c.582+1G>A Single submitter
- p.Ala22Val Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Arg129Leu Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg255Pro Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg61Trp Single submitter ⚠
- p.Asn139Thr Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asn182Ser Single submitter ⚠
- p.Asn42Ser Single submitter ⚠
- p.Asp157Tyr Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp289His Single submitter ⚠
- p.Cys52Arg Single submitter ⚠
- p.Gln176His Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu276Gly Single submitter ⚠
- p.Gly162Arg Single submitter ⚠
- p.Gly168Arg Single submitter ⚠
- p.Gly224Asp Single submitter ⚠
- p.Gly229Glu Single submitter ⚠
- p.Gly30Val Single submitter ⚠
- p.His102Gln Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.Ile160Met Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile307Val Single submitter ⚠
- p.Ile318Thr Single submitter ⚠
- p.Leu100Phe Single submitter ⚠
- p.Leu121Phe Single submitter ⚠
- p.Lys243Arg Single submitter ⚠
- p.Lys53Asn Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Met140Val Single submitter ⚠
- p.Met304Val Single submitter ⚠
- p.Phe281Ser Single submitter ⚠
- p.Phe305Ser Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro184Ser Single submitter ⚠
- p.Pro236Ala Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro266Arg Single submitter ⚠
- p.Ser122Phe Single submitter ⚠
- p.Ser216Tyr Single submitter ⚠
- p.Ser248Ala Single submitter ⚠
- p.Ser248Tyr Single submitter ⚠
- p.Thr146Met Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr161Ser Single submitter ⚠
- p.Thr270Ile Single submitter ⚠
- p.Thr68Asn Single submitter ⚠
- p.Thr68Pro Single submitter ⚠
- p.Trp103Cys Single submitter ⚠
- p.Trp12Arg Single submitter ⚠
- p.Trp152Cys Single submitter ⚠
- p.Tyr200Cys Single submitter ⚠
- p.Tyr95Cys Single submitter ⚠
- p.Tyr99Cys Single submitter ⚠
- p.Val215Gly Single submitter ⚠
- p.Val217Met Single submitter ⚠
- p.Val7Leu Single submitter ⚠