CGGBP1 — 8 ClinVar variants
All ClinVar germline CGGBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
8 Uncertain significance
Full CGGBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CGGBP1 p.Ala125Thr Uncertain significance Single submitter
- CGGBP1 p.Asn115Ser Uncertain significance Single submitter
- CGGBP1 p.Asn47Ser Uncertain significance Single submitter
- CGGBP1 p.Asp37Glu Uncertain significance Single submitter
- CGGBP1 p.Gly138Ser Uncertain significance Single submitter
- CGGBP1 p.Lys40Arg Uncertain significance Single submitter
- CGGBP1 p.Pro23Ala Uncertain significance Single submitter
- CGGBP1 p.Thr66Ala Uncertain significance Single submitter
All CGGBP1 variants
Uncertain significance 8
- p.Ala125Thr Single submitter ⚠
- p.Asn115Ser Single submitter ⚠
- p.Asn47Ser Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Lys40Arg Single submitter ⚠
- p.Pro23Ala Single submitter ⚠
- p.Thr66Ala Single submitter ⚠