AQP9 — 48 ClinVar variants
All ClinVar germline AQP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Likely benign · 46 Uncertain significance
Full AQP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AQP9 p.Ala113Asp Uncertain significance Single submitter
- AQP9 p.Ala161Gly Uncertain significance Single submitter
- AQP9 p.Asn61Asp Uncertain significance Single submitter
- AQP9 p.Asp126Gly Uncertain significance Single submitter
- AQP9 p.Cys92Tyr Uncertain significance Single submitter
- AQP9 p.Gln281Lys Uncertain significance Single submitter
- AQP9 p.Gly77Cys Uncertain significance Single submitter
- AQP9 p.His146Asp Uncertain significance Single submitter
- AQP9 p.Ile175Thr Uncertain significance Single submitter
- AQP9 p.Ile179Thr Uncertain significance Single submitter
- AQP9 p.Ile196Ser Uncertain significance Single submitter
- AQP9 p.Ile246Thr Uncertain significance Single submitter
- AQP9 p.Ile266Phe Uncertain significance Single submitter
- AQP9 p.Ile294Thr Uncertain significance Single submitter
- AQP9 p.Ile72Val Uncertain significance Single submitter
- AQP9 p.Leu172Val Uncertain significance Single submitter
- AQP9 p.Met97Lys Uncertain significance Single submitter
- AQP9 p.Phe277Leu Uncertain significance Single submitter
- AQP9 p.Pro152Arg Uncertain significance Single submitter
- AQP9 p.Pro286Thr Uncertain significance Single submitter
- AQP9 p.Ser50Ile Uncertain significance Single submitter
- AQP9 p.Trp245Arg Uncertain significance Single submitter
- AQP9 p.Val120Ile Uncertain significance Single submitter
- AQP9 p.Val139Met Uncertain significance Single submitter
- AQP9 p.Val176Ile Uncertain significance Single submitter
- AQP9 p.Val265Ala Uncertain significance Single submitter
- AQP9 p.Val78Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- AQP9 p.Ala153Thr Uncertain significance Single submitter
- AQP9 p.Ala159Val Uncertain significance Single submitter
- AQP9 p.Ala161Thr Uncertain significance Single submitter
- AQP9 p.Ala255Val Uncertain significance Single submitter
- AQP9 p.Ala75Val Uncertain significance Single submitter
- AQP9 p.Arg53Gly Uncertain significance Single submitter
- AQP9 p.Gly231Ser Uncertain significance Single submitter
- AQP9 p.Ile196Thr Uncertain significance Single submitter
- AQP9 p.Ile257Thr Uncertain significance Single submitter
- AQP9 p.Ile261Thr Uncertain significance Single submitter
- AQP9 p.Leu185Phe Uncertain significance Single submitter
- AQP9 p.Leu209Arg Uncertain significance Single submitter
- AQP9 p.Leu291Phe Uncertain significance Single submitter
- AQP9 p.Met215Ile Uncertain significance Single submitter
- AQP9 p.Pro154Leu Uncertain significance Single submitter
- AQP9 p.Thr26Asn Uncertain significance Single submitter
- AQP9 p.Trp99Leu Uncertain significance Single submitter
- AQP9 p.Val202Ile Uncertain significance Single submitter
- AQP9 p.Val248Ala Uncertain significance Single submitter
All AQP9 variants
Likely benign 2
- p.Arg53His Single submitter
- p.Thr119= Single submitter
Uncertain significance 46
- p.Ala113Asp Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala161Gly Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg53Gly Single submitter ⚠
- p.Asn61Asp Single submitter ⚠
- p.Asp126Gly Single submitter ⚠
- p.Cys92Tyr Single submitter ⚠
- p.Gln281Lys Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly77Cys Single submitter ⚠
- p.His146Asp Single submitter ⚠
- p.Ile175Thr Single submitter ⚠
- p.Ile179Thr Single submitter ⚠
- p.Ile196Ser Single submitter ⚠
- p.Ile196Thr Single submitter ⚠
- p.Ile246Thr Single submitter ⚠
- p.Ile257Thr Single submitter ⚠
- p.Ile261Thr Single submitter ⚠
- p.Ile266Phe Single submitter ⚠
- p.Ile294Thr Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu172Val Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu209Arg Single submitter ⚠
- p.Leu291Phe Single submitter ⚠
- p.Met215Ile Single submitter ⚠
- p.Met97Lys Single submitter ⚠
- p.Phe277Leu Single submitter ⚠
- p.Pro152Arg Single submitter ⚠
- p.Pro154Leu Single submitter ⚠
- p.Pro286Thr Single submitter ⚠
- p.Ser50Ile Single submitter ⚠
- p.Thr26Asn Single submitter ⚠
- p.Trp245Arg Single submitter ⚠
- p.Trp99Leu Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val248Ala Single submitter ⚠
- p.Val265Ala Single submitter ⚠
- p.Val78Ile Single submitter ⚠