CIBAR2 — 80 ClinVar variants
All ClinVar germline CIBAR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
1 Benign · 5 Likely benign · 74 Uncertain significance
Full CIBAR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIBAR2 p.Ala102Thr Uncertain significance Single submitter
- CIBAR2 p.Ala109Gly Uncertain significance Single submitter
- CIBAR2 p.Ala153Thr Uncertain significance Single submitter
- CIBAR2 p.Ala19Gly Uncertain significance Single submitter
- CIBAR2 p.Ala249Thr Uncertain significance Single submitter
- CIBAR2 p.Ala261Glu Uncertain significance Single submitter
- CIBAR2 p.Ala261Ser Uncertain significance Single submitter
- CIBAR2 p.Arg260Thr Uncertain significance Single submitter
- CIBAR2 p.Arg65Gly Uncertain significance Single submitter
- CIBAR2 p.Asn237Ser Uncertain significance Single submitter
- CIBAR2 p.Asp74Glu Uncertain significance Single submitter
- CIBAR2 p.Asp80Val Uncertain significance Single submitter
- CIBAR2 p.Cys29Arg Uncertain significance Single submitter
- CIBAR2 p.Gln224Leu Uncertain significance Single submitter
- CIBAR2 p.Gly26Glu Uncertain significance Single submitter
- CIBAR2 p.Gly294Ser Uncertain significance Single submitter
- CIBAR2 p.His302Arg Uncertain significance Single submitter
- CIBAR2 p.Ile3Val Uncertain significance Single submitter
- CIBAR2 p.Leu125Arg Uncertain significance Single submitter
- CIBAR2 p.Leu207Arg Uncertain significance Single submitter
- CIBAR2 p.Leu212Pro Uncertain significance Single submitter
- CIBAR2 p.Leu234Gln Uncertain significance Single submitter
- CIBAR2 p.Leu32Arg Uncertain significance Single submitter
- CIBAR2 p.Leu75Pro Uncertain significance Single submitter
- CIBAR2 p.Lys130Arg Uncertain significance Single submitter
- CIBAR2 p.Met190Thr Uncertain significance Single submitter
- CIBAR2 p.Pro268Thr Uncertain significance Single submitter
- CIBAR2 p.Pro62Ser Uncertain significance Single submitter
- CIBAR2 p.Ser137Leu Uncertain significance Single submitter
- CIBAR2 p.Ser303Cys Uncertain significance Single submitter
- CIBAR2 p.Ser9Ile Uncertain significance Single submitter
- CIBAR2 p.Thr253Ala Uncertain significance Single submitter
- CIBAR2 p.Thr36Ala Uncertain significance Single submitter
- CIBAR2 p.Tyr200Asn Uncertain significance Single submitter
- CIBAR2 p.Tyr210Cys Uncertain significance Single submitter
- CIBAR2 p.Val4Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- CIBAR2 p.Ala203Thr Uncertain significance Single submitter
- CIBAR2 p.Ala34Val Uncertain significance Single submitter
- CIBAR2 p.Ala40Ser Uncertain significance Single submitter
- CIBAR2 p.Ala46Val Uncertain significance Single submitter
- CIBAR2 p.Ala72Thr Uncertain significance Single submitter
- CIBAR2 p.Arg108Gln Uncertain significance Single submitter
- CIBAR2 p.Arg108Trp Uncertain significance Single submitter
- CIBAR2 p.Arg158Cys Uncertain significance Single submitter
- CIBAR2 p.Arg158His Uncertain significance Single submitter
- CIBAR2 p.Arg158Leu Uncertain significance Single submitter
- CIBAR2 p.Arg37Cys Uncertain significance Single submitter
- CIBAR2 p.Arg37His Uncertain significance Single submitter
- CIBAR2 p.Arg37Leu Uncertain significance Single submitter
- CIBAR2 p.Arg41Leu Uncertain significance Single submitter
- CIBAR2 p.Arg88Lys Uncertain significance Single submitter
- CIBAR2 p.Asn20Asp Uncertain significance Single submitter
- CIBAR2 p.Asn58Ser Uncertain significance Single submitter
- CIBAR2 p.Asn61Lys Uncertain significance Single submitter
- CIBAR2 p.Asp211Glu Uncertain significance Single submitter
- CIBAR2 p.Gln139Glu Uncertain significance Single submitter
- CIBAR2 p.Gln139Pro Uncertain significance Single submitter
- CIBAR2 p.Gln79His Uncertain significance Single submitter
- CIBAR2 p.Glu121Lys Uncertain significance Single submitter
- CIBAR2 p.Glu63Lys Uncertain significance Single submitter
- CIBAR2 p.Glu90Asp Uncertain significance Single submitter
- CIBAR2 p.Gly101Arg Uncertain significance Single submitter
- CIBAR2 p.Ile188Val Uncertain significance Single submitter
- CIBAR2 p.Leu163Val Uncertain significance Single submitter
- CIBAR2 p.Lys209Glu Uncertain significance Single submitter
- CIBAR2 p.Lys23Glu Uncertain significance Single submitter
- CIBAR2 p.Phe25Tyr Uncertain significance Single submitter
- CIBAR2 p.Pro62Leu Uncertain significance Single submitter
- CIBAR2 p.Thr36Met Uncertain significance Single submitter
- CIBAR2 p.Thr39Met Uncertain significance Single submitter
- CIBAR2 p.Thr91Ile Uncertain significance Single submitter
- CIBAR2 p.Val11Met Uncertain significance Single submitter
- CIBAR2 p.Val191Phe Uncertain significance Single submitter
- CIBAR2 p.Val256Phe Uncertain significance Single submitter
All CIBAR2 variants
Benign 1
- p.Thr238Ser No assertion criteria CIBAR2-related disorder
Likely benign 5
- p.Gly70Asp Single submitter
- p.Leu245Pro Single submitter
- p.Lys180Arg Single submitter
- p.Asp55Asn No assertion criteria CIBAR2-related disorder
- p.Gln246Ter No assertion criteria CIBAR2-related disorder
Uncertain significance 74
- p.Ala102Thr Single submitter ⚠
- p.Ala109Gly Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala19Gly Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala261Glu Single submitter ⚠
- p.Ala261Ser Single submitter ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala46Val Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Arg158Leu Single submitter ⚠
- p.Arg260Thr Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg37His Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg41Leu Single submitter ⚠
- p.Arg65Gly Single submitter ⚠
- p.Arg88Lys Single submitter ⚠
- p.Asn20Asp Single submitter ⚠
- p.Asn237Ser Single submitter ⚠
- p.Asn58Ser Single submitter ⚠
- p.Asn61Lys Single submitter ⚠
- p.Asp211Glu Single submitter ⚠
- p.Asp74Glu Single submitter ⚠
- p.Asp80Val Single submitter ⚠
- p.Cys29Arg Single submitter ⚠
- p.Gln139Glu Single submitter ⚠
- p.Gln139Pro Single submitter ⚠
- p.Gln224Leu Single submitter ⚠
- p.Gln79His Single submitter ⚠
- p.Glu121Lys Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Glu90Asp Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly26Glu Single submitter ⚠
- p.Gly294Ser Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.Ile188Val Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Leu125Arg Single submitter ⚠
- p.Leu163Val Single submitter ⚠
- p.Leu207Arg Single submitter ⚠
- p.Leu212Pro Single submitter ⚠
- p.Leu234Gln Single submitter ⚠
- p.Leu32Arg Single submitter ⚠
- p.Leu75Pro Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Lys209Glu Single submitter ⚠
- p.Lys23Glu Single submitter ⚠
- p.Met190Thr Single submitter ⚠
- p.Phe25Tyr Single submitter ⚠
- p.Pro268Thr Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Pro62Ser Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser303Cys Single submitter ⚠
- p.Ser9Ile Single submitter ⚠
- p.Thr253Ala Single submitter ⚠
- p.Thr36Ala Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Thr39Met Single submitter ⚠
- p.Thr91Ile Single submitter ⚠
- p.Tyr200Asn Single submitter ⚠
- p.Tyr210Cys Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val191Phe Single submitter ⚠
- p.Val256Phe Single submitter ⚠
- p.Val4Ile Single submitter ⚠