AQP8 — 48 ClinVar variants
All ClinVar germline AQP8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Benign · 4 Likely benign · 41 Uncertain significance
Full AQP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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.
- AQP8 p.Ala140Ser Uncertain significance Single submitter
- AQP8 p.Ala157Val Uncertain significance Single submitter
- AQP8 p.Ala75Thr Uncertain significance Single submitter
- AQP8 p.Arg255Cys Uncertain significance Single submitter
- AQP8 p.Arg25Ser Uncertain significance Single submitter
- AQP8 p.Arg27Gln Uncertain significance Single submitter
- AQP8 p.Arg33Gln Uncertain significance Single submitter
- AQP8 p.Cys38Trp Uncertain significance Single submitter
- AQP8 p.Cys8Tyr Uncertain significance Single submitter
- AQP8 p.Gly124Arg Uncertain significance Single submitter
- AQP8 p.Gly142Glu Uncertain significance Single submitter
- AQP8 p.Gly152Glu Uncertain significance Single submitter
- AQP8 p.Gly175Val Uncertain significance Single submitter
- AQP8 p.Gly60Arg Uncertain significance Single submitter
- AQP8 p.Gly88Ser Uncertain significance Single submitter
- AQP8 p.Ile162Val Uncertain significance Single submitter
- AQP8 p.Ile249Val Uncertain significance Single submitter
- AQP8 p.Met209Thr Uncertain significance Single submitter
- AQP8 p.Met7Thr Uncertain significance Single submitter
- AQP8 p.Pro10Arg Uncertain significance Single submitter
- AQP8 p.Pro20Leu Uncertain significance Single submitter
- AQP8 p.Pro68Leu Uncertain significance Single submitter
- AQP8 p.Thr166Met Uncertain significance Single submitter
- AQP8 p.Thr181Lys Uncertain significance Single submitter
- AQP8 p.Thr63Ile Uncertain significance Single submitter
- AQP8 p.Thr82Met Uncertain significance Single submitter
- AQP8 p.Val148Ala Uncertain significance Single submitter
- AQP8 p.Val40Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- AQP8 p.Arg136Thr Uncertain significance Single submitter
- AQP8 p.Arg261Trp Uncertain significance Single submitter
- AQP8 p.Gly183Asp Uncertain significance Single submitter
- AQP8 p.Gly191Ser Uncertain significance Single submitter
- AQP8 p.Ile57Val Uncertain significance Single submitter
- AQP8 p.Leu235Ile Uncertain significance Single submitter
- AQP8 p.Leu74Met Uncertain significance Single submitter
- AQP8 p.Pro112Leu Uncertain significance Single submitter
- AQP8 p.Pro133Ser Uncertain significance Single submitter
- AQP8 p.Ser2Cys Uncertain significance Single submitter
- AQP8 p.Thr181Ile Uncertain significance Single submitter
- AQP8 p.Thr61Met Uncertain significance Single submitter
- AQP8 p.Val196Met Uncertain significance Single submitter
- AQP8 p.Val22Met Likely benign Single submitter
All AQP8 variants
Likely benign 4
- p.Ala157= Single submitter
- p.Arg246= Single submitter
- p.Ser21= Single submitter
- p.Val22Met Single submitter ⚠
Uncertain significance 41
- p.Ala140Ser Single submitter ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg136Thr Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Cys38Trp Single submitter ⚠
- p.Cys8Tyr Single submitter ⚠
- p.Gly124Arg Single submitter ⚠
- p.Gly142Glu Single submitter ⚠
- p.Gly152Glu Single submitter ⚠
- p.Gly175Val Single submitter ⚠
- p.Gly183Asp Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.Gly88Ser Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Ile57Val Single submitter ⚠
- p.Leu235Ile Single submitter ⚠
- p.Leu74Met Single submitter ⚠
- p.Met209Thr Single submitter ⚠
- p.Met7Thr Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Thr166Met Single submitter ⚠
- p.Thr181Ile Single submitter ⚠
- p.Thr181Lys Single submitter ⚠
- p.Thr61Met Single submitter ⚠
- p.Thr63Ile Single submitter ⚠
- p.Thr82Met Single submitter ⚠
- p.Val148Ala Single submitter ⚠
- p.Val196Met Single submitter ⚠
- p.Val40Ala Single submitter ⚠