AEBP2 — 63 ClinVar variants
All ClinVar germline AEBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Likely benign · 62 Uncertain significance
Full AEBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AEBP2 p.Ala198Pro Uncertain significance Single submitter
- AEBP2 p.Ala33Pro Uncertain significance Single submitter
- AEBP2 p.Ala4Ser Uncertain significance Single submitter
- AEBP2 p.Arg138Ser Uncertain significance Single submitter
- AEBP2 p.Arg16Pro Uncertain significance Single submitter
- AEBP2 p.Asn273Thr Uncertain significance Single submitter
- AEBP2 p.Asn336Asp Uncertain significance Single submitter
- AEBP2 p.Asn336Ser Uncertain significance Single submitter
- AEBP2 p.Asp102Glu Uncertain significance Single submitter
- AEBP2 p.Asp108Ala Uncertain significance Single submitter
- AEBP2 p.Asp151Glu Uncertain significance Single submitter
- AEBP2 p.Asp459Asn Uncertain significance Single submitter
- AEBP2 p.Asp7Asn Uncertain significance Single submitter
- AEBP2 p.Asp7Val Uncertain significance Single submitter
- AEBP2 p.Cys271Phe Uncertain significance Single submitter
- AEBP2 p.Gln92Arg Uncertain significance Single submitter
- AEBP2 p.Glu97Asp Uncertain significance Single submitter
- AEBP2 p.Gly185Asp Uncertain significance Single submitter
- AEBP2 p.Gly190Arg Uncertain significance Single submitter
- AEBP2 p.Gly23Ala Uncertain significance Single submitter
- AEBP2 p.His395Arg Uncertain significance Single submitter
- AEBP2 p.His395Tyr Uncertain significance Single submitter
- AEBP2 p.Ile236Val Uncertain significance Single submitter
- AEBP2 p.Ile259Thr Uncertain significance Single submitter
- AEBP2 p.Ile282Thr Uncertain significance Single submitter
- AEBP2 p.Lys382Arg Uncertain significance Single submitter
- AEBP2 p.Phe328Ser Uncertain significance Single submitter
- AEBP2 p.Pro142Leu Uncertain significance Single submitter
- AEBP2 p.Pro21Ser Uncertain significance Single submitter
- AEBP2 p.Pro22Ala Uncertain significance Single submitter
- AEBP2 p.Pro25Ala Uncertain significance Single submitter
- AEBP2 p.Pro36Ala Uncertain significance Single submitter
- AEBP2 p.Ser146Gly Uncertain significance Single submitter
- AEBP2 p.Ser338Gly Uncertain significance Single submitter
- AEBP2 p.Ser465Arg Uncertain significance Single submitter
- AEBP2 p.Thr137Ile Uncertain significance Single submitter
- AEBP2 p.Thr307Ile Uncertain significance Single submitter
- AEBP2 p.Thr6Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- AEBP2 p.Asn60Lys Uncertain significance Single submitter
- AEBP2 p.Asp135Tyr Uncertain significance Single submitter
- AEBP2 p.Asp7Tyr Uncertain significance Single submitter
- AEBP2 p.Glu37Lys Uncertain significance Single submitter
- AEBP2 p.Glu38Lys Uncertain significance Single submitter
- AEBP2 p.Glu43Lys Uncertain significance Single submitter
- AEBP2 p.Glu44Ala Uncertain significance Single submitter
- AEBP2 p.Glu45Gly Uncertain significance Single submitter
- AEBP2 p.Glu46Lys Uncertain significance Single submitter
- AEBP2 p.Glu97Gln Uncertain significance Single submitter
- AEBP2 p.Gly131Arg Uncertain significance Single submitter
- AEBP2 p.Gly172Trp Uncertain significance Single submitter
- AEBP2 p.Gly202Asp Uncertain significance Single submitter
- AEBP2 p.Gly66Asp Uncertain significance Single submitter
- AEBP2 p.Gly94Arg Uncertain significance Single submitter
- AEBP2 p.Ile419Thr Uncertain significance Single submitter
- AEBP2 p.Leu140Trp Uncertain significance Single submitter
- AEBP2 p.Ser113Asn Uncertain significance Single submitter
- AEBP2 p.Ser134Asn Uncertain significance Single submitter
- AEBP2 p.Ser167Ile Uncertain significance Single submitter
- AEBP2 p.Ser177Arg Uncertain significance Single submitter
- AEBP2 p.Ser274Cys Uncertain significance Single submitter
- AEBP2 p.Ser83Leu Uncertain significance Single submitter
- AEBP2 p.Ser83Trp Uncertain significance Single submitter
All AEBP2 variants
Likely benign 1
- p.Glu101Asp Single submitter
Uncertain significance 62
- p.Ala198Pro Single submitter ⚠
- p.Ala33Pro Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Arg138Ser Single submitter ⚠
- p.Arg16Pro Single submitter ⚠
- p.Asn273Thr Single submitter ⚠
- p.Asn336Asp Single submitter ⚠
- p.Asn336Ser Single submitter ⚠
- p.Asn60Lys Single submitter ⚠
- p.Asp102Glu Single submitter ⚠
- p.Asp108Ala Single submitter ⚠
- p.Asp135Tyr Single submitter ⚠
- p.Asp151Glu Single submitter ⚠
- p.Asp459Asn Single submitter ⚠
- p.Asp7Asn Single submitter ⚠
- p.Asp7Tyr Single submitter ⚠
- p.Asp7Val Single submitter ⚠
- p.Cys271Phe Single submitter ⚠
- p.Gln92Arg Single submitter ⚠
- p.Glu37Lys Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu44Ala Single submitter ⚠
- p.Glu45Gly Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu97Asp Single submitter ⚠
- p.Glu97Gln Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly172Trp Single submitter ⚠
- p.Gly185Asp Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly202Asp Single submitter ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.His395Arg Single submitter ⚠
- p.His395Tyr Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Ile259Thr Single submitter ⚠
- p.Ile282Thr Single submitter ⚠
- p.Ile419Thr Single submitter ⚠
- p.Leu140Trp Single submitter ⚠
- p.Lys382Arg Single submitter ⚠
- p.Phe328Ser Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro22Ala Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Pro36Ala Single submitter ⚠
- p.Ser113Asn Single submitter ⚠
- p.Ser134Asn Single submitter ⚠
- p.Ser146Gly Single submitter ⚠
- p.Ser167Ile Single submitter ⚠
- p.Ser177Arg Single submitter ⚠
- p.Ser274Cys Single submitter ⚠
- p.Ser338Gly Single submitter ⚠
- p.Ser465Arg Single submitter ⚠
- p.Ser83Leu Single submitter ⚠
- p.Ser83Trp Single submitter ⚠
- p.Thr137Ile Single submitter ⚠
- p.Thr307Ile Single submitter ⚠
- p.Thr6Ile Single submitter ⚠