AKR7A3 — 80 ClinVar variants
All ClinVar germline AKR7A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
2 Benign · 6 Likely benign · 72 Uncertain significance
Full AKR7A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKR7A3 p.Ala255Thr Uncertain significance Single submitter
- AKR7A3 p.Ala29Thr Uncertain significance Single submitter
- AKR7A3 p.Ala318Ser Uncertain significance Single submitter
- AKR7A3 p.Ala8Gly Uncertain significance Single submitter
- AKR7A3 p.Arg177Trp Uncertain significance Single submitter
- AKR7A3 p.Arg222Cys Uncertain significance Single submitter
- AKR7A3 p.Arg222Pro Uncertain significance Single submitter
- AKR7A3 p.Arg269Trp Uncertain significance Single submitter
- AKR7A3 p.Arg3Leu Uncertain significance Single submitter
- AKR7A3 p.Arg64Gln Uncertain significance Single submitter
- AKR7A3 p.Asn173Ser Uncertain significance Single submitter
- AKR7A3 p.Cys154Tyr Uncertain significance Single submitter
- AKR7A3 p.Gln4His Uncertain significance Single submitter
- AKR7A3 p.Gln94Arg Uncertain significance Single submitter
- AKR7A3 p.Glu239Gln Uncertain significance Single submitter
- AKR7A3 p.Glu239Lys Uncertain significance Single submitter
- AKR7A3 p.Glu293Asp Uncertain significance Single submitter
- AKR7A3 p.Glu296Asp Uncertain significance Single submitter
- AKR7A3 p.Gly161Ser Uncertain significance Single submitter
- AKR7A3 p.Gly203Arg Uncertain significance Single submitter
- AKR7A3 p.Gly305Glu Uncertain significance Single submitter
- AKR7A3 p.His113Pro Uncertain significance Single submitter
- AKR7A3 p.His241Asn Uncertain significance Single submitter
- AKR7A3 p.Lys136Asn Uncertain significance Single submitter
- AKR7A3 p.Met23Val Uncertain significance Single submitter
- AKR7A3 p.Met271Leu Uncertain significance Single submitter
- AKR7A3 p.Pro115Leu Uncertain significance Single submitter
- AKR7A3 p.Pro165His Uncertain significance Single submitter
- AKR7A3 p.Ser28Gly Uncertain significance Single submitter
- AKR7A3 p.Ser6Leu Uncertain significance Single submitter
- AKR7A3 p.Thr206Ile Uncertain significance Single submitter
- AKR7A3 p.Thr41Ser Uncertain significance Single submitter
- AKR7A3 p.Trp270Arg Uncertain significance Single submitter
- AKR7A3 p.Tyr211His Uncertain significance Single submitter
- AKR7A3 p.Tyr256Cys Uncertain significance Single submitter
- AKR7A3 p.Val13Leu Uncertain significance Single submitter
- AKR7A3 p.Val220Met Uncertain significance Single submitter
- AKR7A3 p.Val311Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- AKR7A3 p.Ala314Thr Uncertain significance Single submitter
- AKR7A3 p.Arg101Gln Uncertain significance Single submitter
- AKR7A3 p.Arg126Pro Uncertain significance Single submitter
- AKR7A3 p.Arg188Ser Uncertain significance Single submitter
- AKR7A3 p.Arg193Ser Uncertain significance Single submitter
- AKR7A3 p.Arg235Cys Uncertain significance Single submitter
- AKR7A3 p.Arg331Cys Uncertain significance Single submitter
- AKR7A3 p.Arg92Gln Uncertain significance Single submitter
- AKR7A3 p.Arg92Trp Uncertain significance Single submitter
- AKR7A3 p.Asp89Tyr Uncertain significance Single submitter
- AKR7A3 p.Glu42Lys Uncertain significance Single submitter
- AKR7A3 p.Gly191Ala Uncertain significance Single submitter
- AKR7A3 p.Gly191Glu Uncertain significance Single submitter
- AKR7A3 p.Gly282Arg Uncertain significance Single submitter
- AKR7A3 p.Gly39Ser Uncertain significance Single submitter
- AKR7A3 p.Gly60Cys Uncertain significance Single submitter
- AKR7A3 p.His129Tyr Uncertain significance Single submitter
- AKR7A3 p.Ile153Phe Uncertain significance Single submitter
- AKR7A3 p.Leu63His Uncertain significance Single submitter
- AKR7A3 p.Lys158Asn Uncertain significance Single submitter
- AKR7A3 p.Met171Leu Uncertain significance Single submitter
- AKR7A3 p.Met263Thr Uncertain significance Single submitter
- AKR7A3 p.Ser262Asn Uncertain significance Single submitter
- AKR7A3 p.Ser265Leu Uncertain significance Single submitter
- AKR7A3 p.Ser50Arg Uncertain significance Single submitter
- AKR7A3 p.Thr119Pro Uncertain significance Single submitter
- AKR7A3 p.Tyr111His Uncertain significance Single submitter
- AKR7A3 p.Tyr232His Uncertain significance Single submitter
All AKR7A3 variants
Benign 2
- c.403-7T>C Multiple submitters
- p.His320Arg Multiple submitters
Likely benign 6
- p.Ala146= Multiple submitters
- c.214+7G>A Single submitter
- p.Arg3Gln Single submitter
- p.Ile175Thr Single submitter
- p.Phe197Tyr Single submitter
- p.Thr267Ala Single submitter
Uncertain significance 72
- p.Ala255Thr Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Ala314Thr Single submitter ⚠
- p.Ala318Ser Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg126Pro Single submitter ⚠
- p.Arg177Trp Single submitter ⚠
- p.Arg188Ser Single submitter ⚠
- p.Arg193Ser Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg222Pro Single submitter ⚠
- p.Arg235Cys Single submitter ⚠
- p.Arg269Trp Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Arg92Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asp108Tyr Single submitter
- p.Asp89Tyr Single submitter ⚠
- p.Cys154Tyr Single submitter ⚠
- p.Gln4His Single submitter ⚠
- p.Gln94Arg Single submitter ⚠
- p.Glu239Gln Single submitter ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu293Asp Single submitter ⚠
- p.Glu296Asp Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Gly161Ser Single submitter ⚠
- p.Gly191Ala Single submitter ⚠
- p.Gly191Glu Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
- p.Gly207Ser Single submitter
- p.Gly282Arg Single submitter ⚠
- p.Gly305Glu Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Gly52Ser Single submitter
- p.Gly60Cys Single submitter ⚠
- p.His113Pro Single submitter ⚠
- p.His129Tyr Single submitter ⚠
- p.His241Asn Single submitter ⚠
- p.His274Asn Single submitter
- p.His274Tyr Single submitter
- p.Ile153Phe Single submitter ⚠
- p.Leu63His Single submitter ⚠
- p.Lys136Asn Single submitter ⚠
- p.Lys158Asn Single submitter ⚠
- p.Met171Leu Single submitter ⚠
- p.Met23Val Single submitter ⚠
- p.Met263Thr Single submitter ⚠
- p.Met271Leu Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro165His Single submitter ⚠
- p.Ser262Asn Single submitter ⚠
- p.Ser265Leu Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser50Arg Single submitter ⚠
- p.Ser6Leu Single submitter ⚠
- p.Thr119Pro Single submitter ⚠
- p.Thr206Ile Single submitter ⚠
- p.Thr41Ser Single submitter ⚠
- p.Trp270Arg Single submitter ⚠
- p.Tyr111His Single submitter ⚠
- p.Tyr145Cys Single submitter
- p.Tyr211His Single submitter ⚠
- p.Tyr232His Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val311Ile Single submitter ⚠