CIMIP2B — 55 ClinVar variants
All ClinVar germline CIMIP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
5 Likely benign · 50 Uncertain significance
Full CIMIP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIMIP2B p.Ala114Val Uncertain significance Single submitter
- CIMIP2B p.Ala165Thr Uncertain significance Single submitter
- CIMIP2B p.Arg46Gln Uncertain significance Single submitter
- CIMIP2B p.Asn15Asp Uncertain significance Single submitter
- CIMIP2B p.Asn234Tyr Uncertain significance Single submitter
- CIMIP2B p.Asp172Ala Uncertain significance Single submitter
- CIMIP2B p.Asp220Glu Uncertain significance Single submitter
- CIMIP2B p.Cys109Arg Uncertain significance Single submitter
- CIMIP2B p.Gln111Arg Uncertain significance Single submitter
- CIMIP2B p.Gln219Arg Uncertain significance Single submitter
- CIMIP2B p.Glu130Lys Uncertain significance Single submitter
- CIMIP2B p.Gly265Ala Uncertain significance Single submitter
- CIMIP2B p.Gly96Val Uncertain significance Single submitter
- CIMIP2B p.His223Arg Uncertain significance Single submitter
- CIMIP2B p.Met180Leu Uncertain significance Single submitter
- CIMIP2B p.Pro150Leu Uncertain significance Single submitter
- CIMIP2B p.Pro157Leu Uncertain significance Single submitter
- CIMIP2B p.Pro175Leu Uncertain significance Single submitter
- CIMIP2B p.Pro226Arg Uncertain significance Single submitter
- CIMIP2B p.Pro239Ser Uncertain significance Single submitter
- CIMIP2B p.Pro49Arg Uncertain significance Single submitter
- CIMIP2B p.Pro9Leu Uncertain significance Single submitter
- CIMIP2B p.Ser118Arg Uncertain significance Single submitter
- CIMIP2B p.Ser217Gly Uncertain significance Single submitter
- CIMIP2B p.Ser76Gly Uncertain significance Single submitter
- CIMIP2B p.Thr255Ile Uncertain significance Single submitter
- CIMIP2B p.Tyr241His Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CIMIP2B p.Ala190Thr Uncertain significance Single submitter
- CIMIP2B p.Ala2Val Uncertain significance Single submitter
- CIMIP2B p.Arg100Gln Likely benign Single submitter
- CIMIP2B p.Arg100Trp Uncertain significance Single submitter
- CIMIP2B p.Arg176Trp Uncertain significance Single submitter
- CIMIP2B p.Arg58Cys Uncertain significance Single submitter
- CIMIP2B p.Arg58His Uncertain significance Single submitter
- CIMIP2B p.Arg81Cys Uncertain significance Single submitter
- CIMIP2B p.Gln102Pro Uncertain significance Single submitter
- CIMIP2B p.Gly195Ser Uncertain significance Single submitter
- CIMIP2B p.Gly253Ser Uncertain significance Single submitter
- CIMIP2B p.His122Tyr Uncertain significance Single submitter
- CIMIP2B p.Phe198Ser Uncertain significance Single submitter
- CIMIP2B p.Pro215Arg Uncertain significance Single submitter
- CIMIP2B p.Ser197Arg Uncertain significance Single submitter
- CIMIP2B p.Ser214Pro Uncertain significance Single submitter
- CIMIP2B p.Thr260Ala Uncertain significance Single submitter
- CIMIP2B p.Tyr168Asn Uncertain significance Single submitter
- CIMIP2B p.Tyr186Cys Uncertain significance Single submitter
- CIMIP2B p.Tyr37Cys Uncertain significance Single submitter
- CIMIP2B p.Val187Ala Uncertain significance Single submitter
- CIMIP2B p.Val245Met Uncertain significance Single submitter
- CIMIP2B p.Val98Ile Uncertain significance Single submitter
All CIMIP2B variants
Likely benign 5
- p.Ala205= Single submitter
- p.Arg100Gln Single submitter ⚠
- p.Arg176Gln Single submitter
- p.Pro150= Single submitter
- p.Val33Met Single submitter
Uncertain significance 50
- p.Ala114Val Single submitter ⚠
- p.Ala165Thr Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg176Trp Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg58His Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Asn15Asp Single submitter ⚠
- p.Asn234Tyr Single submitter ⚠
- p.Asp172Ala Single submitter ⚠
- p.Asp220Glu Single submitter ⚠
- p.Cys109Arg Single submitter ⚠
- p.Gln102Pro Single submitter ⚠
- p.Gln111Arg Single submitter ⚠
- p.Gln219Arg Single submitter ⚠
- p.Glu130Lys Single submitter ⚠
- p.Gly195Ser Single submitter ⚠
- p.Gly253Ser Single submitter ⚠
- p.Gly265Ala Single submitter ⚠
- p.Gly96Val Single submitter ⚠
- p.His122Tyr Single submitter ⚠
- p.His223Arg Single submitter ⚠
- p.Met180Leu Single submitter ⚠
- p.Phe198Ser Single submitter ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro215Arg Single submitter ⚠
- p.Pro226Arg Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro49Arg Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Ser197Arg Single submitter ⚠
- p.Ser214Pro Single submitter ⚠
- p.Ser217Gly Single submitter ⚠
- p.Ser76Gly Single submitter ⚠
- p.Thr255Ile Single submitter ⚠
- p.Thr260Ala Single submitter ⚠
- p.Tyr168Asn Single submitter ⚠
- p.Tyr186Cys Single submitter ⚠
- p.Tyr241His Single submitter ⚠
- p.Tyr37Cys Single submitter ⚠
- p.Val187Ala Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val98Ile Single submitter ⚠
- c.*12_*13insTAAG No assertion criteria Meckel syndrome