CIAO1 — 50 ClinVar variants
All ClinVar germline CIAO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Likely benign · 44 Uncertain significance
Full CIAO1 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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CIAO1 p.Arg65Trp
Conflicting
Single submitter
multiple mitochondrial dysfunctions syndrome 10
Predictors lean, ClinVar uncertain 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CIAO1 p.Ser33Leu
Uncertain significance
Multiple submitters
neuromuscular disease
- CIAO1 p.Ala275Thr Uncertain significance Single submitter
- CIAO1 p.Arg18Cys Uncertain significance Single submitter
- CIAO1 p.Arg216Cys Uncertain significance Single submitter
- CIAO1 p.Arg335Gln Uncertain significance Single submitter
- CIAO1 p.Asn228Ser Uncertain significance Single submitter
- CIAO1 p.Asp152Tyr Uncertain significance Single submitter
- CIAO1 p.Asp214Glu Uncertain significance Single submitter
- CIAO1 p.Cys187Tyr Uncertain significance Single submitter
- CIAO1 p.Cys86Trp Uncertain significance Single submitter
- CIAO1 p.Gly44Ala Uncertain significance Single submitter
- CIAO1 p.His149Tyr Uncertain significance Single submitter
-
CIAO1 p.His251Arg
Uncertain significance
Single submitter
multiple mitochondrial dysfunctions syndrome 10
- CIAO1 p.Ile255Val Uncertain significance Single submitter
- CIAO1 p.Lys66Arg Uncertain significance Single submitter
- CIAO1 p.Pro290Ser Uncertain significance Single submitter
- CIAO1 p.Trp50Cys Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CIAO1 p.Ala23Gly Uncertain significance Single submitter
- CIAO1 p.Ala320Thr Uncertain significance Single submitter
- CIAO1 p.Arg208Cys Uncertain significance Single submitter
- CIAO1 p.Arg219Cys Uncertain significance Single submitter
- CIAO1 p.Arg277Cys Uncertain significance Single submitter
- CIAO1 p.Asn147Ser Uncertain significance Single submitter
- CIAO1 p.Asp16Asn Uncertain significance Single submitter
- CIAO1 p.Cys97Phe Uncertain significance Single submitter
- CIAO1 p.Gln162Arg Uncertain significance Single submitter
- CIAO1 p.Gln223Pro Uncertain significance Single submitter
- CIAO1 p.Gln300Pro Uncertain significance Single submitter
- CIAO1 p.Glu163Gln Uncertain significance Single submitter
- CIAO1 p.Glu229Lys Uncertain significance Single submitter
- CIAO1 p.Gly117Ser Uncertain significance Single submitter
- CIAO1 p.Gly249Ser Uncertain significance Single submitter
- CIAO1 p.Gly73Ser Uncertain significance Single submitter
- CIAO1 p.Leu119Val Uncertain significance Single submitter
- CIAO1 p.Leu339Pro Uncertain significance Single submitter
- CIAO1 p.Lys90Glu Uncertain significance Single submitter
- CIAO1 p.Pro204Leu Uncertain significance Single submitter
- CIAO1 p.Pro26Leu Uncertain significance Single submitter
- CIAO1 p.Pro336Ala Uncertain significance Single submitter
- CIAO1 p.Ser144Asn Uncertain significance Single submitter
- CIAO1 p.Ser237Cys Uncertain significance Single submitter
- CIAO1 p.Thr29Ala Uncertain significance Single submitter
- CIAO1 p.Val143Phe Uncertain significance Single submitter
All CIAO1 variants
Pathogenic 2
- p.Asp171Gly No assertion criteria multiple mitochondrial dysfunctions syndrome 10
- p.His251Leu No assertion criteria multiple mitochondrial dysfunctions syndrome 10
Likely pathogenic 1
- p.His302Pro Single submitter neuromuscular disease
Conflicting classifications of pathogenicity 1
- p.Arg65Trp Single submitter multiple mitochondrial dysfunctions syndrome 10 ⚠
Benign 1
- p.Leu101= Single submitter
Likely benign 1
- p.Ile244Val Single submitter
Uncertain significance 44
- p.Ser33Leu Multiple submitters neuromuscular disease ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala275Thr Single submitter ⚠
- p.Ala320Thr Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg65fs Single submitter multiple mitochondrial dysfunctions syndrome 10
- p.Asn147Ser Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asp152Tyr Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp214Glu Single submitter ⚠
- p.Cys187Tyr Single submitter ⚠
- p.Cys86Trp Single submitter ⚠
- p.Cys97Phe Single submitter ⚠
- p.Gln162Arg Single submitter ⚠
- p.Gln223Pro Single submitter ⚠
- p.Gln300Pro Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu229Lys Single submitter ⚠
- p.Gly117Ser Single submitter ⚠
- p.Gly249Ser Single submitter ⚠
- p.Gly44Ala Single submitter ⚠
- p.Gly73Ser Single submitter ⚠
- p.His149Tyr Single submitter ⚠
- p.His251Arg Single submitter multiple mitochondrial dysfunctions syndrome 10 ⚠
- p.Ile255Val Single submitter ⚠
- p.Leu119Val Single submitter ⚠
- p.Leu339Pro Single submitter ⚠
- p.Lys66Arg Single submitter ⚠
- p.Lys90Glu Single submitter ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro290Ser Single submitter ⚠
- p.Pro336Ala Single submitter ⚠
- p.Ser144Asn Single submitter ⚠
- p.Ser237Cys Single submitter ⚠
- p.Thr29Ala Single submitter ⚠
- p.Trp50Cys Single submitter ⚠
- p.Val143Phe Single submitter ⚠