AQP12A — 56 ClinVar variants

All ClinVar germline AQP12A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

4 Benign · 4 Likely benign · 48 Uncertain significance

Full AQP12A 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 33

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All AQP12A variants

Benign 4

c.124-15C>G Multiple submitters
p.Leu100= Multiple submitters
p.Met117Thr Multiple submitters
p.Thr83= Multiple submitters

Likely benign 4

p.Ala70Val Single submitter
p.Arg118His Single submitter
p.Pro172Leu Single submitter
p.Thr44Met Single submitter

Uncertain significance 48

p.Ala104Val Single submitter ⚠
p.Ala113Thr Single submitter ⚠
p.Ala13Thr Single submitter ⚠
p.Ala156Thr Single submitter ⚠
p.Ala16Asp Single submitter ⚠
p.Ala20Val Single submitter ⚠
p.Ala21Asp Single submitter ⚠
p.Ala80Thr Single submitter ⚠
p.Arg118Cys Single submitter ⚠
p.Arg144Cys Single submitter ⚠
p.Arg169Gln Single submitter ⚠
p.Arg169Trp Single submitter ⚠
p.Arg23Trp Single submitter ⚠
p.Asp127Asn Single submitter ⚠
p.Asp54Tyr Single submitter ⚠
p.Cys120Ser Single submitter ⚠
p.Gln106Glu Single submitter ⚠
p.Glu88Asp Single submitter ⚠
p.Glu93Asp Single submitter ⚠
p.Glu93Gln Single submitter ⚠
p.Glu93Lys Single submitter ⚠
p.Gly177Arg Single submitter ⚠
p.Gly72Arg Single submitter ⚠
p.Gly77Arg Single submitter ⚠
p.Leu116Val Single submitter ⚠
p.Leu130Gln Single submitter ⚠
p.Leu134Phe Single submitter ⚠
p.Leu166Pro Single submitter ⚠
p.Leu166Val Single submitter ⚠
p.Leu168Pro Single submitter ⚠
p.Leu17His Single submitter ⚠
p.Leu182Gln Single submitter
p.Leu4Val Single submitter ⚠
p.Met117Ile Single submitter ⚠
p.Met135Val Single submitter ⚠
p.Met42Ile Single submitter ⚠
p.Pro82Ala Single submitter ⚠
p.Ser212Leu Single submitter ⚠
p.Ser25Cys Single submitter ⚠
p.Thr145Ile Single submitter ⚠
p.Thr208Ile Single submitter
p.Thr83Ala Single submitter ⚠
p.Thr99Arg Single submitter ⚠
p.Thr99Met Single submitter ⚠
p.Tyr189Cys Single submitter ⚠
p.Val147Met Single submitter ⚠
p.Val186Ile Single submitter ⚠
p.Val31Glu Single submitter ⚠