AQP12B — 81 ClinVar variants
All ClinVar germline AQP12B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
7 Likely benign · 74 Uncertain significance
Full AQP12B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AQP12B p.Ala148Thr Uncertain significance Single submitter
- AQP12B p.Ala186Thr Uncertain significance Single submitter
- AQP12B p.Ala191Thr Uncertain significance Single submitter
- AQP12B p.Ala24Val Uncertain significance Single submitter
- AQP12B p.Ala38Val Uncertain significance Single submitter
- AQP12B p.Ala82Thr Uncertain significance Single submitter
- AQP12B p.Ala90Ser Uncertain significance Single submitter
- AQP12B p.Arg156His Uncertain significance Single submitter
- AQP12B p.Arg298His Uncertain significance Single submitter
- AQP12B p.Gln149His Uncertain significance Single submitter
- AQP12B p.Glu105Lys Uncertain significance Single submitter
- AQP12B p.Glu230Asp Uncertain significance Single submitter
- AQP12B p.Gly32Asp Uncertain significance Single submitter
- AQP12B p.Gly3Ala Uncertain significance Single submitter
- AQP12B p.Gly65Arg Uncertain significance Single submitter
- AQP12B p.Gly65Glu Uncertain significance Single submitter
- AQP12B p.Leu128Val Uncertain significance Single submitter
- AQP12B p.Leu143Met Uncertain significance Single submitter
- AQP12B p.Leu76Phe Uncertain significance Single submitter
- AQP12B p.Met103Arg Uncertain significance Single submitter
- AQP12B p.Met147Lys Uncertain significance Single submitter
- AQP12B p.Pro109Leu Uncertain significance Single submitter
- AQP12B p.Pro109Thr Uncertain significance Single submitter
- AQP12B p.Thr111Met Uncertain significance Single submitter
- AQP12B p.Thr14Ile Uncertain significance Single submitter
- AQP12B p.Thr14Ser Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- AQP12B p.Ala125Thr Uncertain significance Single submitter
- AQP12B p.Ala167Ser Uncertain significance Single submitter
- AQP12B p.Ala167Thr Uncertain significance Single submitter
- AQP12B p.Ala168Thr Uncertain significance Single submitter
- AQP12B p.Ala20Glu Uncertain significance Single submitter
- AQP12B p.Ala21Ser Uncertain significance Single submitter
- AQP12B p.Ala38Ser Uncertain significance Single submitter
- AQP12B p.Ala38Thr Uncertain significance Single submitter
- AQP12B p.Ala82Glu Uncertain significance Single submitter
- AQP12B p.Arg130Cys Uncertain significance Single submitter
- AQP12B p.Arg156Cys Uncertain significance Single submitter
- AQP12B p.Arg156Pro Uncertain significance Single submitter
- AQP12B p.Arg181Gly Uncertain significance Single submitter
- AQP12B p.Arg39Gln Uncertain significance Single submitter
- AQP12B p.Gln144Pro Uncertain significance Single submitter
- AQP12B p.Gln99His Uncertain significance Single submitter
- AQP12B p.Gly225Arg Uncertain significance Single submitter
- AQP12B p.Gly61Trp Uncertain significance Single submitter
- AQP12B p.Gly89Arg Uncertain significance Single submitter
- AQP12B p.His161Asp Uncertain significance Single submitter
- AQP12B p.Leu108Val Uncertain significance Single submitter
- AQP12B p.Leu164Phe Uncertain significance Single submitter
- AQP12B p.Leu177Pro Uncertain significance Single submitter
- AQP12B p.Leu81Gln Uncertain significance Single submitter
- AQP12B p.Phe15Ser Uncertain significance Single submitter
- AQP12B p.Phe171Leu Uncertain significance Single submitter
- AQP12B p.Phe37Leu Uncertain significance Single submitter
- AQP12B p.Pro184Leu Likely benign Single submitter
- AQP12B p.Pro184Thr Uncertain significance Single submitter
- AQP12B p.Ser138Arg Uncertain significance Single submitter
- AQP12B p.Ser183Asn Uncertain significance Single submitter
- AQP12B p.Ser224Leu Uncertain significance Single submitter
- AQP12B p.Ser299Asn Uncertain significance Single submitter
- AQP12B p.Ser91Pro Uncertain significance Single submitter
- AQP12B p.Ser97Cys Uncertain significance Single submitter
- AQP12B p.Thr111Arg Uncertain significance Single submitter
- AQP12B p.Thr111Pro Uncertain significance Single submitter
- AQP12B p.Thr157Ile Uncertain significance Single submitter
- AQP12B p.Thr176Ile Likely benign Single submitter
- AQP12B p.Thr199Arg Uncertain significance Single submitter
- AQP12B p.Thr199Lys Uncertain significance Single submitter
- AQP12B p.Thr56Met Likely benign Single submitter
- AQP12B p.Thr86Asn Uncertain significance Single submitter
- AQP12B p.Tyr201Cys Uncertain significance Single submitter
- AQP12B p.Val159Met Uncertain significance Single submitter
- AQP12B p.Val165Met Uncertain significance Single submitter
- AQP12B p.Val232Met Uncertain significance Single submitter
- AQP12B p.Val96Met Uncertain significance Single submitter
All AQP12B variants
Likely benign 7
- p.Ala41Val Single submitter
- p.Arg253His Single submitter
- p.Met122Val Single submitter
- p.Pro184Leu Single submitter ⚠
- p.Ser188Arg Single submitter
- p.Thr176Ile Single submitter ⚠
- p.Thr56Met Single submitter ⚠
Uncertain significance 74
- p.Ala125Thr Single submitter ⚠
- p.Ala148Thr Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Ala167Thr Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala20Glu Single submitter ⚠
- p.Ala21Ser Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala44Thr Single submitter
- p.Ala82Glu Single submitter ⚠
- p.Ala82Thr Single submitter ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg156Pro Single submitter ⚠
- p.Arg181Gly Single submitter ⚠
- p.Arg298His Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Gln144Pro Single submitter ⚠
- p.Gln149His Single submitter ⚠
- p.Gln99His Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.Glu230Asp Single submitter ⚠
- p.Gly225Arg Single submitter ⚠
- p.Gly32Asp Single submitter ⚠
- p.Gly3Ala Single submitter ⚠
- p.Gly48Arg Single submitter
- p.Gly61Trp Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His161Asp Single submitter ⚠
- p.Leu108Val Single submitter ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu143Met Single submitter ⚠
- p.Leu164Phe Single submitter ⚠
- p.Leu177Pro Single submitter ⚠
- p.Leu47Val Single submitter
- p.Leu76Phe Single submitter ⚠
- p.Leu81Gln Single submitter ⚠
- p.Met103Arg Single submitter ⚠
- p.Met147Lys Single submitter ⚠
- p.Phe15Ser Single submitter ⚠
- p.Phe171Leu Single submitter ⚠
- p.Phe37Leu Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro109Thr Single submitter ⚠
- p.Pro184Thr Single submitter ⚠
- p.Ser138Arg Single submitter ⚠
- p.Ser183Asn Single submitter ⚠
- p.Ser224Leu Single submitter ⚠
- p.Ser299Asn Single submitter ⚠
- p.Ser91Pro Single submitter ⚠
- p.Ser97Cys Single submitter ⚠
- p.Thr111Arg Single submitter ⚠
- p.Thr111Met Single submitter ⚠
- p.Thr111Pro Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr14Ser Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr199Arg Single submitter ⚠
- p.Thr199Lys Single submitter ⚠
- p.Thr86Asn Single submitter ⚠
- p.Tyr201Cys Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val96Met Single submitter ⚠