AQP7 — 7 ClinVar variants
All ClinVar germline AQP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
1 Conflicting · 5 Benign · 1 Likely benign
Full AQP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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AQP7 p.Arg234Ser
Conflicting
Single submitter
AQP7-related condition
Predictors split 2
The independent predictors disagree with each other — read with care.
All AQP7 variants
Conflicting classifications of pathogenicity 1
- p.Arg234Ser Single submitter AQP7-related condition ⚠
Benign 5
- c.406+2T>C Single submitter
- p.Gly207Ser Single submitter
- p.Gly214Arg Single submitter
- p.Leu217His Single submitter ⚠
- p.Tyr115His Single submitter ⚠
Likely benign 1
- p.Val34Glu No assertion criteria EBV-positive nodal T- and NK-cell lymphoma