C4BPA — 113 ClinVar variants
All ClinVar germline C4BPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Conflicting · 15 Benign · 6 Benign/Likely benign · 21 Likely benign · 70 Uncertain significance
Full C4BPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C4BPA p.Ala10Val Uncertain significance Single submitter
- C4BPA p.Ala464Glu Uncertain significance Single submitter
- C4BPA p.Ala477Thr Uncertain significance Single submitter
- C4BPA p.Ala588Thr Uncertain significance Single submitter
- C4BPA p.Ala588Val Uncertain significance Single submitter
- C4BPA p.Arg159Thr Uncertain significance Single submitter
- C4BPA p.Arg24Gly Uncertain significance Single submitter
- C4BPA p.Arg382Cys Uncertain significance Single submitter
- C4BPA p.Arg382Ser Uncertain significance Single submitter
- C4BPA p.Asn385Tyr Uncertain significance Single submitter
- C4BPA p.Asp30Asn Uncertain significance Single submitter
- C4BPA p.Asp594Gly Uncertain significance Single submitter
- C4BPA p.Gln268His Uncertain significance Single submitter
- C4BPA p.Glu101Lys Uncertain significance Single submitter
- C4BPA p.Glu319Asp Uncertain significance Single submitter
- C4BPA p.Glu563Lys Uncertain significance Single submitter
- C4BPA p.Glu563Val Uncertain significance Single submitter
- C4BPA p.Gly196Ser Uncertain significance Single submitter
- C4BPA p.Gly411Arg Uncertain significance Single submitter
- C4BPA p.Ile263Val Uncertain significance Single submitter
- C4BPA p.Ile279Val Uncertain significance Single submitter
- C4BPA p.Ile305Leu Uncertain significance Single submitter
- C4BPA p.Ile32Phe Uncertain significance Single submitter
- C4BPA p.Ile459Leu Uncertain significance Single submitter
- C4BPA p.Ile578Thr Uncertain significance Single submitter
- C4BPA p.Leu593Val Uncertain significance Single submitter
- C4BPA p.Lys176Asn Uncertain significance Single submitter
- C4BPA p.Pro205Leu Uncertain significance Single submitter
- C4BPA p.Pro316Leu Uncertain significance Single submitter
- C4BPA p.Pro338Thr Uncertain significance Single submitter
- C4BPA p.Pro7Leu Uncertain significance Single submitter
- C4BPA p.Ser202Ile Uncertain significance Single submitter
-
C4BPA p.Ser214Thr
Uncertain significance
Single submitter
C4BPA-related disorder
- C4BPA p.Ser245Ala Uncertain significance Single submitter
- C4BPA p.Ser29Phe Uncertain significance Single submitter
- C4BPA p.Ser381Arg Uncertain significance Single submitter
- C4BPA p.Thr106Ile Uncertain significance Single submitter
- C4BPA p.Thr151Ala Uncertain significance Single submitter
- C4BPA p.Thr340Ala Uncertain significance Single submitter
- C4BPA p.Thr414Ala Uncertain significance Single submitter
- C4BPA p.Thr414Met Uncertain significance Single submitter
- C4BPA p.Thr508Ile Uncertain significance Single submitter
- C4BPA p.Thr524Asn Uncertain significance Single submitter
- C4BPA p.Thr65Met Uncertain significance Single submitter
- C4BPA p.Thr76Ile Uncertain significance Single submitter
- C4BPA p.Trp20Arg Uncertain significance Single submitter
- C4BPA p.Tyr110Phe Uncertain significance Single submitter
- C4BPA p.Tyr313His Uncertain significance Single submitter
- C4BPA p.Tyr572His Uncertain significance Single submitter
- C4BPA p.Val226Ala Uncertain significance Single submitter
- C4BPA p.Val327Ala Uncertain significance Single submitter
- C4BPA p.Val46Gly Uncertain significance Single submitter
- C4BPA p.Val490Met Uncertain significance Single submitter
- C4BPA p.Val502Ile Uncertain significance Single submitter
- C4BPA p.Val571Ile Uncertain significance Single submitter
- C4BPA p.Val86Ile Uncertain significance Single submitter
-
C4BPA p.Asn385Ser
Uncertain significance
No assertion criteria
C4BPA-related disorder
-
C4BPA p.Lys431Glu
Uncertain significance
No assertion criteria
C4BPA-related disorder
-
C4BPA p.Pro356Ser
Uncertain significance
No assertion criteria
C4BPA-related disorder
-
C4BPA p.Pro61Leu
Uncertain significance
No assertion criteria
C4BPA-related disorder
Predictors split 10
The independent predictors disagree with each other — read with care.
- C4BPA p.Ala464Val Likely benign Single submitter
- C4BPA p.Ala477Gly Uncertain significance Single submitter
- C4BPA p.Gln377Pro Uncertain significance Single submitter
- C4BPA p.Gly117Glu Uncertain significance Single submitter
- C4BPA p.Gly254Glu Uncertain significance Single submitter
- C4BPA p.Gly373Asp Uncertain significance Single submitter
- C4BPA p.Gly51Val Uncertain significance Single submitter
- C4BPA p.His186Tyr Uncertain significance Single submitter
- C4BPA p.Leu555Pro Uncertain significance Single submitter
- C4BPA p.Pro316Ser Uncertain significance Single submitter
All C4BPA variants
Conflicting classifications of pathogenicity 1
- p.Arg206His Single submitter ⚠
Benign 15
- c.1274-63C>T Multiple submitters
- c.1274-95A>C Multiple submitters
- c.428+37T>C Multiple submitters
- c.515-36G>C Multiple submitters
- c.889+141T>A Multiple submitters
- p.Ala60Val Multiple submitters
- p.Arg240His Multiple submitters
- p.Ile224Thr Multiple submitters
- p.Leu33Val Multiple submitters
- p.Pro356= Multiple submitters
- p.Pro4Ala Multiple submitters
- c.142+245T>C Single submitter
- c.143-258C>T Single submitter
- c.1621-101G>C Single submitter
- c.328+226del Single submitter
Benign/Likely benign 6
- c.889+19A>G Multiple submitters
- p.Arg13= Multiple submitters
- p.Arg485Gln Multiple submitters
- p.Gly225= Multiple submitters
- p.Ile300Thr Multiple submitters
- p.Pro4Gln Multiple submitters
Likely benign 21
- p.Ala10Thr Multiple submitters
- p.Pro543= Multiple submitters
- c.142+13A>C Single submitter
- c.142+19G>A Single submitter
- c.1620+17A>G Single submitter
- c.429-11A>G Single submitter
- c.429-19T>C Single submitter
- c.889+14G>A Single submitter
- c.-14C>T Single submitter
- p.Ala464Val Single submitter ⚠
- p.Ala60Ser Single submitter
- p.Glu534= Single submitter
- p.Gly275= Single submitter
- p.Gly423Glu Single submitter
- p.Gly51Asp Single submitter
- p.Ile39= Single submitter
- p.Leu576= Single submitter
- p.Leu66= Single submitter
- p.Ser403Arg Single submitter
- p.Ser522Asn Single submitter
- p.Thr530= Single submitter
Uncertain significance 70
- p.Ala10Val Single submitter ⚠
- p.Ala464Glu Single submitter ⚠
- p.Ala477Gly Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Ala588Thr Single submitter ⚠
- p.Ala588Val Single submitter ⚠
- p.Arg159Thr Single submitter ⚠
- p.Arg24Gly Single submitter ⚠
- p.Arg382Cys Single submitter ⚠
- p.Arg382Ser Single submitter ⚠
- p.Asn385Tyr Single submitter ⚠
- p.Asp30Asn Single submitter ⚠
- p.Asp594Gly Single submitter ⚠
- p.Gln268His Single submitter ⚠
- p.Gln377Pro Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu319Asp Single submitter ⚠
- p.Glu563Lys Single submitter ⚠
- p.Glu563Val Single submitter ⚠
- p.Gly117Glu Single submitter ⚠
- p.Gly196Ser Single submitter ⚠
- p.Gly254Glu Single submitter ⚠
- p.Gly373Asp Single submitter ⚠
- p.Gly411Arg Single submitter ⚠
- p.Gly51Val Single submitter ⚠
- p.His186Tyr Single submitter ⚠
- p.Ile263Val Single submitter ⚠
- p.Ile279Val Single submitter ⚠
- p.Ile305Leu Single submitter ⚠
- p.Ile32Phe Single submitter ⚠
- p.Ile459Leu Single submitter ⚠
- p.Ile578Thr Single submitter ⚠
- p.Leu555Pro Single submitter ⚠
- p.Leu593Val Single submitter ⚠
- p.Lys176Asn Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro316Leu Single submitter ⚠
- p.Pro316Ser Single submitter ⚠
- p.Pro338Thr Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser202Ile Single submitter ⚠
- p.Ser214Thr Single submitter C4BPA-related disorder ⚠
- p.Ser245Ala Single submitter ⚠
- p.Ser29Phe Single submitter ⚠
- p.Ser381Arg Single submitter ⚠
- p.Thr106Ile Single submitter ⚠
- p.Thr151Ala Single submitter ⚠
- p.Thr340Ala Single submitter ⚠
- p.Thr414Ala Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Thr508Ile Single submitter ⚠
- p.Thr524Asn Single submitter ⚠
- p.Thr65Met Single submitter ⚠
- p.Thr76Ile Single submitter ⚠
- p.Trp20Arg Single submitter ⚠
- p.Tyr110Phe Single submitter ⚠
- p.Tyr313His Single submitter ⚠
- p.Tyr572His Single submitter ⚠
- p.Val226Ala Single submitter ⚠
- p.Val327Ala Single submitter ⚠
- p.Val46Gly Single submitter ⚠
- p.Val490Met Single submitter ⚠
- p.Val502Ile Single submitter ⚠
- p.Val571Ile Single submitter ⚠
- p.Val86Ile Single submitter ⚠
- p.Asn385Ser No assertion criteria C4BPA-related disorder ⚠
- p.Glu125fs No assertion criteria C4BPA-related disorder
- p.Lys431Glu No assertion criteria C4BPA-related disorder ⚠
- p.Pro356Ser No assertion criteria C4BPA-related disorder ⚠
- p.Pro61Leu No assertion criteria C4BPA-related disorder ⚠