CIB4 — 27 ClinVar variants
All ClinVar germline CIB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
27 Uncertain significance
Full CIB4 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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIB4 p.Arg128Gln Uncertain significance Single submitter
- CIB4 p.Arg128Leu Uncertain significance Single submitter
- CIB4 p.Arg179Gln Uncertain significance Single submitter
- CIB4 p.Arg25Gly Uncertain significance Single submitter
- CIB4 p.Arg62Gln Uncertain significance Single submitter
- CIB4 p.Arg69Cys Uncertain significance Single submitter
- CIB4 p.Asn155Asp Uncertain significance Single submitter
- CIB4 p.Asp121Asn Uncertain significance Single submitter
- CIB4 p.Asp152Glu Uncertain significance Single submitter
- CIB4 p.His166Arg Uncertain significance Single submitter
- CIB4 p.His181Tyr Uncertain significance Single submitter
- CIB4 p.Lys77Arg Uncertain significance Single submitter
- CIB4 p.Phe111Cys Uncertain significance Single submitter
- CIB4 p.Phe164Ser Uncertain significance Single submitter
- CIB4 p.Phe22Leu Uncertain significance Single submitter
- CIB4 p.Pro98Leu Uncertain significance Single submitter
- CIB4 p.Pro98Ser Uncertain significance Single submitter
- CIB4 p.Thr144Lys Uncertain significance Single submitter
- CIB4 p.Thr144Met Uncertain significance Single submitter
- CIB4 p.Thr34Asn Uncertain significance Single submitter
- CIB4 p.Val73Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CIB4 p.Arg107Cys Uncertain significance Single submitter
- CIB4 p.Gln54Lys Uncertain significance Single submitter
- CIB4 p.Glu113Lys Uncertain significance Single submitter
- CIB4 p.Glu120Lys Uncertain significance Single submitter
- CIB4 p.Ser151Leu Uncertain significance Single submitter
- CIB4 p.Thr49Met Uncertain significance Single submitter
All CIB4 variants
Uncertain significance 27
- p.Arg107Cys Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg128Leu Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg25Gly Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Asn155Asp Single submitter ⚠
- p.Asp121Asn Single submitter ⚠
- p.Asp152Glu Single submitter ⚠
- p.Gln54Lys Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.His166Arg Single submitter ⚠
- p.His181Tyr Single submitter ⚠
- p.Lys77Arg Single submitter ⚠
- p.Phe111Cys Single submitter ⚠
- p.Phe164Ser Single submitter ⚠
- p.Phe22Leu Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Pro98Ser Single submitter ⚠
- p.Ser151Leu Single submitter ⚠
- p.Thr144Lys Single submitter ⚠
- p.Thr144Met Single submitter ⚠
- p.Thr34Asn Single submitter ⚠
- p.Thr49Met Single submitter ⚠
- p.Val73Leu Single submitter ⚠