CIAO2B — 28 ClinVar variants
All ClinVar germline CIAO2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Likely benign · 27 Uncertain significance
Full CIAO2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIAO2B p.Arg114His Uncertain significance Single submitter
- CIAO2B p.Asn16Asp Uncertain significance Single submitter
- CIAO2B p.Glu33Gly Uncertain significance Single submitter
- CIAO2B p.Gly10Ser Uncertain significance Single submitter
- CIAO2B p.His126Leu Uncertain significance Single submitter
- CIAO2B p.Ile19Val Uncertain significance Single submitter
- CIAO2B p.Leu11Arg Uncertain significance Single submitter
- CIAO2B p.Lys104Arg Uncertain significance Single submitter
- CIAO2B p.Pro38Leu Uncertain significance Single submitter
- CIAO2B p.Pro56Ala Uncertain significance Single submitter
- CIAO2B p.Pro56Arg Uncertain significance Single submitter
- CIAO2B p.Pro91Ala Uncertain significance Single submitter
- CIAO2B p.Ser160Thr Uncertain significance Single submitter
- CIAO2B p.Val105Ala Uncertain significance Single submitter
- CIAO2B p.Val119Met Uncertain significance Single submitter
- CIAO2B p.Val2Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CIAO2B p.Arg162His Uncertain significance Single submitter
- CIAO2B p.Asn16Lys Uncertain significance Single submitter
- CIAO2B p.Asp77Asn Uncertain significance Single submitter
- CIAO2B p.Glu129Gln Uncertain significance Single submitter
- CIAO2B p.Glu64Lys Uncertain significance Single submitter
- CIAO2B p.Gly5Ser Uncertain significance Single submitter
- CIAO2B p.Ile41Met Uncertain significance Single submitter
- CIAO2B p.Leu11Phe Uncertain significance Single submitter
- CIAO2B p.Lys134Arg Uncertain significance Single submitter
- CIAO2B p.Pro123Leu Uncertain significance Single submitter
- CIAO2B p.Val7Ile Uncertain significance Single submitter
All CIAO2B variants
Likely benign 1
- p.Asp118= Single submitter
Uncertain significance 27
- p.Arg114His Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Asn16Asp Single submitter ⚠
- p.Asn16Lys Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu33Gly Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.Gly10Ser Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.His126Leu Single submitter ⚠
- p.Ile19Val Single submitter ⚠
- p.Ile41Met Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Leu11Phe Single submitter ⚠
- p.Lys104Arg Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro56Ala Single submitter ⚠
- p.Pro56Arg Single submitter ⚠
- p.Pro91Ala Single submitter ⚠
- p.Ser160Thr Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val119Met Single submitter ⚠
- p.Val2Leu Single submitter ⚠
- p.Val7Ile Single submitter ⚠