AQP6 — 46 ClinVar variants
All ClinVar germline AQP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
4 Benign · 2 Likely benign · 40 Uncertain significance
Full AQP6 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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AQP6 p.Ala144Val Uncertain significance Single submitter
- AQP6 p.Ala22Ser Uncertain significance Single submitter
- AQP6 p.Ala51Thr Uncertain significance Single submitter
- AQP6 p.Ala84Thr Uncertain significance Single submitter
- AQP6 p.Arg127Gln Uncertain significance Single submitter
- AQP6 p.Arg166His Uncertain significance Single submitter
- AQP6 p.Arg47Gly Uncertain significance Single submitter
- AQP6 p.Asn133Lys Uncertain significance Single submitter
- AQP6 p.Asp238Asn Uncertain significance Single submitter
- AQP6 p.Glu128Gly Uncertain significance Single submitter
- AQP6 p.Gly110Glu Uncertain significance Single submitter
- AQP6 p.Gly124Glu Uncertain significance Single submitter
- AQP6 p.Gly78Arg Uncertain significance Single submitter
- AQP6 p.Ile186Thr Uncertain significance Single submitter
- AQP6 p.Ile206Val Uncertain significance Single submitter
- AQP6 p.Leu182Gln Uncertain significance Single submitter
- AQP6 p.Leu229Met Uncertain significance Single submitter
- AQP6 p.Leu229Val Uncertain significance Single submitter
- AQP6 p.Leu36Pro Uncertain significance Single submitter
- AQP6 p.Phe160Ser Uncertain significance Single submitter
- AQP6 p.Phe210Ser Uncertain significance Single submitter
- AQP6 p.Ser24Cys Uncertain significance Single submitter
- AQP6 p.Ser274Leu Uncertain significance Single submitter
- AQP6 p.Ser274Trp Uncertain significance Single submitter
- AQP6 p.Thr73Ile Uncertain significance Single submitter
- AQP6 p.Val134Met Uncertain significance Single submitter
- AQP6 p.Val253Ile Uncertain significance Single submitter
- AQP6 p.Val38Gly Uncertain significance Single submitter
- AQP6 p.Val55Met Uncertain significance Single submitter
- AQP6 p.Val85Met Uncertain significance Single submitter
- AQP6 p.Val91Ile Uncertain significance Single submitter
- AQP6 p.Val91Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- AQP6 p.Arg166Gly Benign Multiple submitters
- AQP6 p.Ala106Ser Uncertain significance Single submitter
- AQP6 p.Ala161Thr Uncertain significance Single submitter
- AQP6 p.Gly43Cys Uncertain significance Single submitter
- AQP6 p.Met195Ile Uncertain significance Single submitter
- AQP6 p.Phe39Leu Uncertain significance Single submitter
- AQP6 p.Val42Met Uncertain significance Single submitter
All AQP6 variants
Benign 4
- p.Arg166Gly Multiple submitters ⚠
- p.Leu19= Multiple submitters
- c.561+5G>A Single submitter
- p.Ala16= Single submitter
Likely benign 2
- p.Ala16Val Single submitter
- p.Gly273Ser Single submitter
Uncertain significance 40
- p.Ala106Ser Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala22Ser Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg245Trp Single submitter
- p.Arg47Gly Single submitter ⚠
- p.Asn133Lys Single submitter ⚠
- p.Asp238Asn Single submitter ⚠
- p.Gln57His Single submitter
- p.Glu128Gly Single submitter ⚠
- p.Gly110Glu Single submitter ⚠
- p.Gly124Glu Single submitter ⚠
- p.Gly43Cys Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.Ile186Thr Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Leu182Gln Single submitter ⚠
- p.Leu229Met Single submitter ⚠
- p.Leu229Val Single submitter ⚠
- p.Leu36Pro Single submitter ⚠
- p.Met195Ile Single submitter ⚠
- p.Phe160Ser Single submitter ⚠
- p.Phe210Ser Single submitter ⚠
- p.Phe39Leu Single submitter ⚠
- p.Ser24Cys Single submitter ⚠
- p.Ser274Leu Single submitter ⚠
- p.Ser274Trp Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Val253Ile Single submitter ⚠
- p.Val38Gly Single submitter ⚠
- p.Val42Met Single submitter ⚠
- p.Val55Met Single submitter ⚠
- p.Val85Met Single submitter ⚠
- p.Val91Ile Single submitter ⚠
- p.Val91Leu Single submitter ⚠