AQP11 — 46 ClinVar variants
All ClinVar germline AQP11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
7 Likely benign · 39 Uncertain significance
Full AQP11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AQP11 p.Pro100Leu Uncertain significance Multiple submitters
- AQP11 p.Ala171Thr Uncertain significance Single submitter
- AQP11 p.Arg120Lys Uncertain significance Single submitter
- AQP11 p.Arg188Gln Uncertain significance Single submitter
- AQP11 p.Arg41Gly Uncertain significance Single submitter
- AQP11 p.Arg8Gly Uncertain significance Single submitter
- AQP11 p.Asn264Ser Uncertain significance Single submitter
- AQP11 p.Cys155Phe Uncertain significance Single submitter
- AQP11 p.Glu186Lys Uncertain significance Single submitter
- AQP11 p.Gly246Ala Uncertain significance Single submitter
- AQP11 p.His89Tyr Uncertain significance Single submitter
- AQP11 p.Ile237Val Uncertain significance Single submitter
- AQP11 p.Leu129Met Uncertain significance Single submitter
- AQP11 p.Met250Thr Uncertain significance Single submitter
- AQP11 p.Met28Leu Uncertain significance Single submitter
- AQP11 p.Pro233Ser Uncertain significance Single submitter
- AQP11 p.Pro3Ser Uncertain significance Single submitter
- AQP11 p.Ser152Arg Uncertain significance Single submitter
- AQP11 p.Thr211Arg Uncertain significance Single submitter
- AQP11 p.Thr266Ile Uncertain significance Single submitter
- AQP11 p.Tyr83Cys Uncertain significance Single submitter
- AQP11 p.Val172Phe Uncertain significance Single submitter
- AQP11 p.Val88Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- AQP11 p.Ala180Thr Uncertain significance Single submitter
- AQP11 p.Arg8Pro Uncertain significance Single submitter
- AQP11 p.Glu10Lys Uncertain significance Single submitter
- AQP11 p.Gly110Glu Uncertain significance Single submitter
- AQP11 p.Leu196Pro Uncertain significance Single submitter
- AQP11 p.Met21Ile Uncertain significance Single submitter
- AQP11 p.Phe202Leu Uncertain significance Single submitter
- AQP11 p.Phe47Leu Uncertain significance Single submitter
- AQP11 p.Pro158Ala Uncertain significance Single submitter
- AQP11 p.Pro158Ser Uncertain significance Single submitter
- AQP11 p.Ser86Leu Uncertain significance Single submitter
- AQP11 p.Thr169Pro Uncertain significance Single submitter
- AQP11 p.Thr16Pro Uncertain significance Single submitter
- AQP11 p.Trp260Cys Uncertain significance Single submitter
- AQP11 p.Tyr146Cys Uncertain significance Single submitter
- AQP11 p.Tyr205His Uncertain significance Single submitter
All AQP11 variants
Likely benign 7
- p.Arg160Gln Single submitter
- p.Gln145His Single submitter
- p.Gln145Pro Single submitter
- p.Met28Ile Single submitter
- p.Pro233Leu Single submitter
- p.Val172Ile Single submitter
- p.His45= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 39
- p.Pro100Leu Multiple submitters ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Arg120Lys Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg41Gly Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Cys155Phe Single submitter ⚠
- p.Glu10Lys Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Gly110Glu Single submitter ⚠
- p.Gly246Ala Single submitter ⚠
- p.His89Tyr Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Leu129Met Single submitter ⚠
- p.Leu196Pro Single submitter ⚠
- p.Met21Ile Single submitter ⚠
- p.Met250Thr Single submitter ⚠
- p.Met28Leu Single submitter ⚠
- p.Phe202Leu Single submitter ⚠
- p.Phe47Leu Single submitter ⚠
- p.Pro158Ala Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Ser152Arg Single submitter ⚠
- p.Ser86Leu Single submitter ⚠
- p.Thr169Pro Single submitter ⚠
- p.Thr16Pro Single submitter ⚠
- p.Thr211Arg Single submitter ⚠
- p.Thr266Ile Single submitter ⚠
- p.Trp260Cys Single submitter ⚠
- p.Tyr146Cys Single submitter ⚠
- p.Tyr205His Single submitter ⚠
- p.Tyr83Cys Single submitter ⚠
- p.Val172Phe Single submitter ⚠
- p.Val88Leu Single submitter ⚠