SERPINB1 — 67 ClinVar variants
All ClinVar germline SERPINB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
5 Benign · 3 Likely benign · 59 Uncertain significance
Full SERPINB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SERPINB1 p.Ala117Asp Uncertain significance Single submitter
- SERPINB1 p.Ala289Thr Uncertain significance Single submitter
- SERPINB1 p.Ala82Gly Uncertain significance Single submitter
- SERPINB1 p.Arg10Ser Uncertain significance Single submitter
- SERPINB1 p.Arg215His Uncertain significance Single submitter
- SERPINB1 p.Arg290His Uncertain significance Single submitter
- SERPINB1 p.Arg80His Uncertain significance Single submitter
- SERPINB1 p.Asn263Thr Uncertain significance Single submitter
- SERPINB1 p.Asn351Asp Uncertain significance Single submitter
- SERPINB1 p.Asp211Asn Uncertain significance Single submitter
- SERPINB1 p.Asp287Asn Uncertain significance Single submitter
- SERPINB1 p.Gln134His Uncertain significance Single submitter
- SERPINB1 p.Glu224Gln Uncertain significance Single submitter
- SERPINB1 p.Glu239Ala Uncertain significance Single submitter
- SERPINB1 p.Gly138Arg Uncertain significance Single submitter
- SERPINB1 p.Gly309Glu Uncertain significance Single submitter
- SERPINB1 p.His123Arg Uncertain significance Single submitter
- SERPINB1 p.Ile236Thr Uncertain significance Single submitter
- SERPINB1 p.Ile267Thr Uncertain significance Single submitter
- SERPINB1 p.Leu101Pro Uncertain significance Single submitter
- SERPINB1 p.Leu212His Uncertain significance Single submitter
- SERPINB1 p.Lys110Glu Uncertain significance Single submitter
- SERPINB1 p.Lys143Ile Uncertain significance Single submitter
- SERPINB1 p.Lys203Asn Uncertain significance Single submitter
- SERPINB1 p.Met345Thr Uncertain significance Single submitter
- SERPINB1 p.Pro233Leu Uncertain significance Single submitter
- SERPINB1 p.Pro24Leu Uncertain significance Single submitter
- SERPINB1 p.Pro261Ser Uncertain significance Single submitter
- SERPINB1 p.Pro32Ser Uncertain significance Single submitter
- SERPINB1 p.Pro379Ser Uncertain significance Single submitter
- SERPINB1 p.Ser150Leu Uncertain significance Single submitter
- SERPINB1 p.Ser227Arg Uncertain significance Single submitter
- SERPINB1 p.Ser272Gly Uncertain significance Single submitter
- SERPINB1 p.Thr111Ile Uncertain significance Single submitter
- SERPINB1 p.Thr181Met Uncertain significance Single submitter
- SERPINB1 p.Thr342Ile Uncertain significance Single submitter
- SERPINB1 p.Thr353Ala Uncertain significance Single submitter
- SERPINB1 p.Thr62Met Uncertain significance Single submitter
- SERPINB1 p.Tyr112Cys Uncertain significance Single submitter
- SERPINB1 p.Val195Gly Uncertain significance Single submitter
- SERPINB1 p.Val293Met Uncertain significance Single submitter
- SERPINB1 p.Val66Phe Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- SERPINB1 p.Ala114Thr Uncertain significance Single submitter
- SERPINB1 p.Arg215Cys Uncertain significance Single submitter
- SERPINB1 p.Arg275Gly Uncertain significance Single submitter
- SERPINB1 p.Arg290Cys Benign Single submitter
- SERPINB1 p.Arg80Cys Uncertain significance Single submitter
- SERPINB1 p.Asn327Ser Uncertain significance Single submitter
- SERPINB1 p.Asp295Asn Uncertain significance Single submitter
- SERPINB1 p.Leu187Phe Uncertain significance Single submitter
- SERPINB1 p.Leu243Val Uncertain significance Single submitter
- SERPINB1 p.Lys203Ile Uncertain significance Single submitter
- SERPINB1 p.Lys79Glu Uncertain significance Single submitter
- SERPINB1 p.Phe43Leu Uncertain significance Single submitter
- SERPINB1 p.Ser55Phe Uncertain significance Single submitter
- SERPINB1 p.Ser83Phe Uncertain significance Single submitter
- SERPINB1 p.Thr46Ile Uncertain significance Single submitter
- SERPINB1 p.Tyr84Cys Uncertain significance Single submitter
All SERPINB1 variants
Benign 5
- c.425-11dup Single submitter
- c.568-9A>T Single submitter
- p.Ala82Val Single submitter
- p.Arg290Cys Single submitter ⚠
- p.Leu13= Single submitter
Likely benign 3
- p.Ala205Pro Single submitter
- p.His256Arg Single submitter
- p.Met152Val Single submitter
Uncertain significance 59
- p.Ala114Thr Single submitter ⚠
- p.Ala117Asp Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala334Thr Single submitter
- p.Ala82Gly Single submitter ⚠
- p.Arg10Ser Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg275Gly Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Arg80His Single submitter ⚠
- p.Asn263Thr Single submitter ⚠
- p.Asn327Ser Single submitter ⚠
- p.Asn351Asp Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp287Asn Single submitter ⚠
- p.Asp295Asn Single submitter ⚠
- p.Gln134His Single submitter ⚠
- p.Glu224Gln Single submitter ⚠
- p.Glu239Ala Single submitter ⚠
- p.Gly138Arg Single submitter ⚠
- p.Gly309Glu Single submitter ⚠
- p.His123Arg Single submitter ⚠
- p.Ile236Thr Single submitter ⚠
- p.Ile267Thr Single submitter ⚠
- p.Leu101Pro Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Leu212His Single submitter ⚠
- p.Leu243Val Single submitter ⚠
- p.Lys110Glu Single submitter ⚠
- p.Lys143Ile Single submitter ⚠
- p.Lys203Asn Single submitter ⚠
- p.Lys203Ile Single submitter ⚠
- p.Lys79Glu Single submitter ⚠
- p.Met345Thr Single submitter ⚠
- p.Phe43Leu Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro261Ser Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro379Ser Single submitter ⚠
- p.Ser150Leu Single submitter ⚠
- p.Ser227Arg Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Ser55Phe Single submitter ⚠
- p.Ser83Phe Single submitter ⚠
- p.Thr111Ile Single submitter ⚠
- p.Thr181Met Single submitter ⚠
- p.Thr342Ile Single submitter ⚠
- p.Thr353Ala Single submitter ⚠
- p.Thr46Ile Single submitter ⚠
- p.Thr62Met Single submitter ⚠
- p.Tyr112Cys Single submitter ⚠
- p.Tyr84Cys Single submitter ⚠
- p.Val195Gly Single submitter ⚠
- p.Val293Met Single submitter ⚠
- p.Val324Met Single submitter
- p.Val66Phe Single submitter ⚠