CIBAR1 — 43 ClinVar variants
All ClinVar germline CIBAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Benign · 5 Likely benign · 34 Uncertain significance
Full CIBAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIBAR1 p.Ala19Gly Uncertain significance Single submitter
- CIBAR1 p.Ala205Thr Uncertain significance Single submitter
- CIBAR1 p.Ala271Thr Uncertain significance Single submitter
- CIBAR1 p.Ala86Gly Uncertain significance Single submitter
- CIBAR1 p.Arg110Trp Uncertain significance Single submitter
- CIBAR1 p.Arg122Gln Uncertain significance Single submitter
- CIBAR1 p.Arg134Cys Uncertain significance Single submitter
- CIBAR1 p.Arg136Gln Uncertain significance Single submitter
- CIBAR1 p.Arg141Gln Uncertain significance Single submitter
- CIBAR1 p.Arg163His Uncertain significance Single submitter
- CIBAR1 p.Arg238Lys Uncertain significance Single submitter
- CIBAR1 p.Arg39Trp Uncertain significance Single submitter
- CIBAR1 p.Asp46Asn Uncertain significance Single submitter
- CIBAR1 p.Cys263Phe Uncertain significance Single submitter
- CIBAR1 p.Gln129Arg Uncertain significance Single submitter
- CIBAR1 p.Gln135His Uncertain significance Single submitter
- CIBAR1 p.Glu275Lys Uncertain significance Single submitter
- CIBAR1 p.His65Asp Uncertain significance Single submitter
- CIBAR1 p.Lys267Arg Uncertain significance Single submitter
- CIBAR1 p.Lys79Arg Uncertain significance Single submitter
- CIBAR1 p.Pro228Leu Uncertain significance Single submitter
- CIBAR1 p.Pro228Ser Uncertain significance Single submitter
- CIBAR1 p.Pro228Thr Uncertain significance Single submitter
- CIBAR1 p.Ser159Asn Uncertain significance Single submitter
- CIBAR1 p.Tyr37Cys Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CIBAR1 p.Ala124Asp Uncertain significance Single submitter
- CIBAR1 p.Arg160Gln Uncertain significance Single submitter
- CIBAR1 p.Glu29Lys Uncertain significance Single submitter
- CIBAR1 p.Glu97Lys Uncertain significance Single submitter
- CIBAR1 p.Thr118Pro Uncertain significance Single submitter
-
CIBAR1 p.Arg222Gln
Benign
No assertion criteria
CIBAR1-related disorder
-
CIBAR1 p.Ile236Ser
Likely benign
No assertion criteria
CIBAR1-related disorder
All CIBAR1 variants
Pathogenic 2
- p.Arg160Ter Multiple submitters polydactyly, postaxial, type A9
- p.Arg122Ter Single submitter polydactyly, postaxial, type A9
Likely pathogenic 1
- p.Arg132fs Single submitter polydactyly, postaxial, type A9
Benign 1
- p.Arg222Gln No assertion criteria CIBAR1-related disorder ⚠
Likely benign 5
- c.432+41A>G Single submitter
- p.Ala48= Single submitter
- p.Asn211Lys Single submitter
- p.Glu62= No assertion criteria CIBAR1-related disorder
- p.Ile236Ser No assertion criteria CIBAR1-related disorder ⚠
Uncertain significance 34
- p.Ala124Asp Single submitter ⚠
- p.Ala19Gly Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala86Gly Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg233His Single submitter
- p.Arg238Lys Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Asp213His Single submitter
- p.Asp46Asn Single submitter ⚠
- p.Cys263Phe Single submitter ⚠
- p.Gln129Arg Single submitter ⚠
- p.Gln135His Single submitter ⚠
- p.Glu214Asp Single submitter
- p.Glu275Lys Single submitter ⚠
- p.Glu29Lys Single submitter ⚠
- p.Glu97Lys Single submitter ⚠
- p.His65Asp Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys79Arg Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro228Ser Single submitter ⚠
- p.Pro228Thr Single submitter ⚠
- p.Ser159Asn Single submitter ⚠
- p.Thr118Pro Single submitter ⚠
- p.Thr203Ser Single submitter
- p.Tyr37Cys Single submitter ⚠