C4BPB — 47 ClinVar variants
All ClinVar germline C4BPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
6 Benign · 4 Benign/Likely benign · 14 Likely benign · 23 Uncertain significance
Full C4BPB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C4BPB p.Arg77Cys Uncertain significance Single submitter
- C4BPB p.Asn154Ser Uncertain significance Single submitter
- C4BPB p.Asp181Asn Uncertain significance Single submitter
- C4BPB p.Asp19Gly Uncertain significance Single submitter
- C4BPB p.Gln195His Uncertain significance Single submitter
- C4BPB p.Glu220Ala Uncertain significance Single submitter
- C4BPB p.Glu241Gln Uncertain significance Single submitter
- C4BPB p.Gly230Ser Uncertain significance Single submitter
- C4BPB p.Ile33Val Uncertain significance Single submitter
- C4BPB p.Leu122Val Uncertain significance Single submitter
- C4BPB p.Lys199Thr Uncertain significance Single submitter
- C4BPB p.Lys51Asn Uncertain significance Single submitter
- C4BPB p.Met10Thr Uncertain significance Single submitter
- C4BPB p.Met231Val Uncertain significance Single submitter
- C4BPB p.Pro24Ala Uncertain significance Single submitter
- C4BPB p.Pro28Ser Uncertain significance Single submitter
- C4BPB p.Thr104Met Uncertain significance Single submitter
- C4BPB p.Thr74Ile Uncertain significance Single submitter
- C4BPB p.Val97Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All C4BPB variants
Benign 6
- c.409+265G>A Multiple submitters
- c.410-12C>T Multiple submitters
- c.58+46T>G Multiple submitters
- c.59-114C>T Multiple submitters
- c.618+253T>G Multiple submitters
- p.Val35= Multiple submitters
Benign/Likely benign 4
- c.232+3A>G Multiple submitters
- c.410-9T>C Multiple submitters
- p.Asn154= Multiple submitters
- p.His22= Multiple submitters
Likely benign 14
- c.409+8C>A Multiple submitters
- p.Arg118Trp Multiple submitters
- c.409+19A>G Single submitter
- c.58+15C>T Single submitter
- p.Ala12Val Single submitter
- p.Arg118= Single submitter
- p.Ile194= Single submitter
- p.Lys102Gln Single submitter
- p.Pro189= Single submitter
- p.Pro84= Single submitter
- p.Thr126= Single submitter
- p.Val48Leu Single submitter
- c.504-21_504-3dup No assertion criteria C4BPB-related disorder
- p.Val174Met No assertion criteria C4BPB-related disorder
Uncertain significance 23
- p.Arg77Cys Single submitter ⚠
- p.Asn154Ser Single submitter ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp19Gly Single submitter ⚠
- p.Cys216Trp Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Glu220Ala Single submitter ⚠
- p.Glu241Gln Single submitter ⚠
- p.Gly230Ser Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Leu122Val Single submitter ⚠
- p.Lys199Thr Single submitter ⚠
- p.Lys51Asn Single submitter ⚠
- p.Met10Thr Single submitter ⚠
- p.Met231Val Single submitter ⚠
- p.Phe222Leu Single submitter ⚠
- p.Pro24Ala Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Ser116Gly Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr104Pro Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Val97Met Single submitter ⚠