CBARP — 35 ClinVar variants
All ClinVar germline CBARP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
5 Likely benign · 30 Uncertain significance
Full CBARP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBARP p.Arg144His Uncertain significance Single submitter
- CBARP p.Asp43Asn Uncertain significance Single submitter
- CBARP p.Cys73Tyr Uncertain significance Single submitter
- CBARP p.Gln142Arg Uncertain significance Single submitter
- CBARP p.Glu183Gln Uncertain significance Single submitter
- CBARP p.Glu277Lys Uncertain significance Single submitter
- CBARP p.His332Tyr Uncertain significance Single submitter
- CBARP p.Leu42Met Uncertain significance Single submitter
- CBARP p.Lys177Asn Uncertain significance Single submitter
- CBARP p.Pro374Ser Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CBARP p.Ala19Val Uncertain significance Single submitter
- CBARP p.Ala272Val Likely benign Single submitter
- CBARP p.Asp355His Uncertain significance Single submitter
- CBARP p.Glu141Gly Uncertain significance Single submitter
- CBARP p.Gly279Ser Uncertain significance Single submitter
- CBARP p.Gly281Arg Uncertain significance Single submitter
- CBARP p.His161Tyr Uncertain significance Single submitter
- CBARP p.Ser223Arg Uncertain significance Single submitter
- CBARP p.Thr193Ile Uncertain significance Single submitter
- CBARP p.Thr216Ile Uncertain significance Single submitter
- CBARP p.Thr6Ser Uncertain significance Single submitter
- CBARP p.Val50Met Uncertain significance Single submitter
All CBARP variants
Likely benign 5
Uncertain significance 30
- c.1154+114C>G Single submitter
- c.1154+126G>T Single submitter
- c.1154+36C>G Single submitter
- c.1154+45C>T Single submitter
- c.1154+80G>A Single submitter
- c.1154+87C>T Single submitter
- p.Ala19Val Single submitter ⚠
- p.Ala237= Single submitter
- p.Arg144His Single submitter ⚠
- p.Asp355His Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Cys73Tyr Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gln78= Single submitter
- p.Glu141Gly Single submitter ⚠
- p.Glu183Gln Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Gly279Ser Single submitter ⚠
- p.Gly281Arg Single submitter ⚠
- p.His161Tyr Single submitter ⚠
- p.His332Tyr Single submitter ⚠
- p.Leu42Met Single submitter ⚠
- p.Lys177Asn Single submitter ⚠
- p.Pro374Ser Single submitter ⚠
- p.Ser223Arg Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr216Ile Single submitter ⚠
- p.Thr6Ser Single submitter ⚠
- p.Trp27Ter Single submitter
- p.Val50Met Single submitter ⚠