AQP1 — 86 ClinVar variants
All ClinVar germline AQP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
3 Pathogenic · 1 Conflicting · 20 Benign · 22 Likely benign · 40 Uncertain significance
Full AQP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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AQP1 p.Pro38Leu
Pathogenic
No assertion criteria
Colton-null phenotype
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.
- AQP1 p.Ala168Val Uncertain significance Multiple submitters
- AQP1 p.Asp259Asn Uncertain significance Multiple submitters
- AQP1 p.Ala16Val Uncertain significance Single submitter
- AQP1 p.Ala257Val Uncertain significance Single submitter
- AQP1 p.Arg159Gln Uncertain significance Single submitter
- AQP1 p.Arg162His Uncertain significance Single submitter
- AQP1 p.Asp158Asn Uncertain significance Single submitter
- AQP1 p.Asp158Glu Uncertain significance Single submitter
- AQP1 p.Asp258Asn Uncertain significance Single submitter
- AQP1 p.Glu142Lys Uncertain significance Single submitter
- AQP1 p.Gly166Arg Uncertain significance Single submitter
- AQP1 p.Gly219Arg Uncertain significance Single submitter
- AQP1 p.Ile184Thr Uncertain significance Single submitter
- AQP1 p.Leu164Val Uncertain significance Single submitter
- AQP1 p.Leu170Pro Uncertain significance Single submitter
- AQP1 p.Leu95Phe Uncertain significance Single submitter
- AQP1 p.Lys7Arg Uncertain significance Single submitter
- AQP1 p.Phe10Cys Uncertain significance Single submitter
- AQP1 p.Ser135Leu Uncertain significance Single submitter
- AQP1 p.Ser236Ile Uncertain significance Single submitter
- AQP1 p.Thr120Ile Uncertain significance Single submitter
- AQP1 p.Thr22Asn Uncertain significance Single submitter
- AQP1 p.Thr62Met Uncertain significance Single submitter
- AQP1 p.Val103Leu Uncertain significance Single submitter
- AQP1 p.Val39Leu Uncertain significance Single submitter
- AQP1 p.Val50Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- AQP1 p.Ala110Thr Uncertain significance Single submitter
- AQP1 p.Ala64Val Uncertain significance Single submitter
- AQP1 p.Ala94Gly Uncertain significance Single submitter
- AQP1 p.Gln47Arg Uncertain significance Single submitter
- AQP1 p.Gly30Ser Uncertain significance Single submitter
- AQP1 p.Leu181Ile Uncertain significance Single submitter
- AQP1 p.Ser117Phe Uncertain significance Single submitter
- AQP1 p.Ser123Pro Uncertain significance Single submitter
- AQP1 p.Ser86Cys Uncertain significance Single submitter
- AQP1 p.Thr21Met Likely benign Single submitter
- AQP1 p.Tyr253Cys Uncertain significance Single submitter
- AQP1 p.Val103Met Uncertain significance Single submitter
- AQP1 p.Val107Gly Benign Single submitter
- AQP1 p.Val107Ile Benign Single submitter
- AQP1 p.Val133Met Benign Single submitter
- AQP1 p.Val201Ala Uncertain significance Single submitter
All AQP1 variants
Pathogenic 3
- p.Arg195Trp Single submitter
- p.Ser196Cys Single submitter AQP1-related pulmonary hypertension
- p.Pro38Leu No assertion criteria Colton-null phenotype ⚠
Conflicting classifications of pathogenicity 1
- p.Leu174Phe Single submitter ⚠
Benign 20
- c.385-10T>A Single submitter
- c.385-686G>A Single submitter
- c.549+12G>A Single submitter
- c.549+149G>C Single submitter
- c.550-21_550-18del Single submitter
- c.630+19del Single submitter
- c.631-11T>A Single submitter
- c.631-12C>T Single submitter
- c.631-18C>T Single submitter
- c.*56AGGGG[3] Single submitter
- p.Ala45Val Single submitter
- p.Cys152= Single submitter
- p.Gly165Asp Single submitter
- p.Ile60= Single submitter
- p.Pro38= Single submitter
- p.Ser135= Single submitter
- p.Val107Gly Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val133Met Single submitter ⚠
- c.*229C>T No assertion criteria AQP1-related disorder
Likely benign 22
- c.384+9_384+10dup Single submitter
- c.549+14C>G Single submitter
- c.630+18G>A Single submitter
- p.Ala110= Single submitter
- p.Ala194= Single submitter
- p.Ala200Thr Single submitter
- p.Ala73= Single submitter
- p.Asn49Ser Single submitter
- p.Asp258= Single submitter
- p.Cys102= Single submitter
- p.Ile141= Single submitter
- p.Leu151= Single submitter
- p.Pro169= Single submitter
- p.Thr109= Single submitter
- p.Thr157= Single submitter
- p.Thr21Met Single submitter ⚠
- p.Thr62= Single submitter
- p.Tyr97= Single submitter
- p.Val107= Single submitter
- p.Val153Met Single submitter
- c.*209G>A No assertion criteria AQP1-related disorder
- c.*282C>T No assertion criteria AQP1-related disorder
Uncertain significance 40
- p.Ala168Val Multiple submitters ⚠
- p.Asp259Asn Multiple submitters ⚠
- c.630+6A>G Single submitter
- p.Ala110Thr Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala257Val Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Ala94Gly Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Asn192_Pro193insArgGlyIleAsn Single submitter
- p.Asp158Asn Single submitter ⚠
- p.Asp158Glu Single submitter ⚠
- p.Asp258Asn Single submitter ⚠
- p.Gln47Arg Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Ile184Thr Single submitter ⚠
- p.Leu164Val Single submitter ⚠
- p.Leu170Pro Single submitter ⚠
- p.Leu181Ile Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys7Arg Single submitter ⚠
- p.Phe10Cys Single submitter ⚠
- p.Ser117Phe Single submitter ⚠
- p.Ser123Pro Single submitter ⚠
- p.Ser135Leu Single submitter ⚠
- p.Ser236Ile Single submitter ⚠
- p.Ser86Cys Single submitter ⚠
- p.Thr120Ile Single submitter ⚠
- p.Thr22Asn Single submitter ⚠
- p.Thr62Met Single submitter ⚠
- p.Tyr253Cys Single submitter ⚠
- p.Val103Leu Single submitter ⚠
- p.Val103Met Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val50Met Single submitter ⚠