CIAO3 — 99 ClinVar variants

All ClinVar germline CIAO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

3 Benign · 11 Likely benign · 85 Uncertain significance

Full CIAO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 47

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

Predictors split 29

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

All CIAO3 variants

Benign 3

p.Leu446= Multiple submitters
p.Val38Met Multiple submitters
c.1193-9C>T Single submitter

Likely benign 11

p.Gly425Ser Multiple submitters
c.693+9G>A Single submitter
p.Ala435Thr Single submitter
p.Arg329Gln Single submitter
p.Arg379Lys Single submitter
p.Arg42His Single submitter
p.Arg59Gln Single submitter
p.Asn260Ser Single submitter
p.Glu92Lys Single submitter
p.Gly302Ser Single submitter
p.Thr470Ser Single submitter

Uncertain significance 85

p.Ala155Thr Single submitter ⚠
p.Ala212Thr Single submitter ⚠
p.Ala327Thr Single submitter ⚠
p.Ala327Val Single submitter ⚠
p.Ala365Ser Single submitter ⚠
p.Ala365Thr Single submitter
p.Ala39Gly Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala464Thr Single submitter ⚠
p.Ala468Thr Single submitter ⚠
p.Ala81Thr Single submitter ⚠
p.Ala8Thr Single submitter ⚠
p.Arg127Gln Single submitter ⚠
p.Arg127Trp Single submitter ⚠
p.Arg167Gln Single submitter ⚠
p.Arg171Trp Single submitter ⚠
p.Arg213Gln Single submitter ⚠
p.Arg213Trp Single submitter ⚠
p.Arg266Gln Single submitter ⚠
p.Arg312Gln Single submitter ⚠
p.Arg312Trp Single submitter ⚠
p.Arg325Gln Single submitter ⚠
p.Arg325Trp Single submitter ⚠
p.Arg371Cys Single submitter
p.Arg371His Single submitter
p.Arg382Gln Single submitter ⚠
p.Arg384Cys Single submitter ⚠
p.Arg428Gln Single submitter ⚠
p.Arg456Cys Single submitter ⚠
p.Arg456His Single submitter ⚠
p.Arg475Gln Single submitter ⚠
p.Arg475Leu Single submitter ⚠
p.Arg475Trp Single submitter ⚠
p.Asn260Lys Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Asp290Asn Single submitter ⚠
p.Asp70Asn Single submitter ⚠
p.Cys246Tyr Single submitter ⚠
p.Gln359His Single submitter ⚠
p.Glu307Gln Single submitter ⚠
p.Glu430Asp Single submitter ⚠
p.Glu452Gly Single submitter ⚠
p.Gly19Glu Single submitter ⚠
p.Gly202Arg Single submitter
p.Gly202Ser Single submitter ⚠
p.Gly285Ser Single submitter ⚠
p.Gly403Arg Single submitter ⚠
p.Gly437Ala Single submitter ⚠
p.Gly448Val Single submitter ⚠
p.Gly47Ala Single submitter ⚠
p.Gly76Ser Single submitter
p.Gly7Arg Single submitter ⚠
p.His208Asp Single submitter ⚠
p.His232Pro Single submitter ⚠
p.Ile18Phe Single submitter ⚠
p.Ile194Met Single submitter
p.Leu288Ile Single submitter ⚠
p.Leu68Gln Single submitter ⚠
p.Lys65Glu Single submitter ⚠
p.Met1Ile Single submitter Pulmonary arteriovenous malformation
p.Pro20Ala Single submitter ⚠
p.Pro20Gln Single submitter ⚠
p.Pro245Leu Single submitter ⚠
p.Pro412Ser Single submitter ⚠
p.Ser21Phe Single submitter
p.Ser21Tyr Single submitter
p.Ser301Thr Single submitter ⚠
p.Ser316Leu Single submitter ⚠
p.Ser67Leu Single submitter ⚠
p.Ser6Asn Single submitter ⚠
p.Ser6Gly Single submitter ⚠
p.Thr274Lys Single submitter ⚠
p.Thr449Met Single submitter ⚠
p.Thr460Met Single submitter ⚠
p.Thr79Ser Single submitter ⚠
p.Tyr196Cys Single submitter ⚠
p.Val113Ala Single submitter ⚠
p.Val151Ile Single submitter ⚠
p.Val223Leu Single submitter ⚠
p.Val241Ile Single submitter ⚠
p.Val271Ile Single submitter ⚠
p.Val286Ile Single submitter ⚠
p.Val352Met Single submitter ⚠
p.Val420Met Single submitter ⚠
p.Val427Ile Single submitter ⚠