APBB2 — 111 ClinVar variants
All ClinVar germline APBB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
1 Benign · 2 Likely benign · 108 Uncertain significance
Full APBB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APBB2 p.Ala111Val Uncertain significance Single submitter
- APBB2 p.Ala126Val Uncertain significance Single submitter
- APBB2 p.Ala197Val Uncertain significance Single submitter
- APBB2 p.Ala224Asp Uncertain significance Single submitter
- APBB2 p.Ala436Pro Uncertain significance Single submitter
- APBB2 p.Ala436Thr Uncertain significance Single submitter
- APBB2 p.Ala558Val Uncertain significance Single submitter
- APBB2 p.Ala727Val Uncertain significance Single submitter
- APBB2 p.Ala77Val Uncertain significance Single submitter
- APBB2 p.Arg423Cys Uncertain significance Single submitter
- APBB2 p.Arg488His Uncertain significance Single submitter
- APBB2 p.Arg500His Uncertain significance Single submitter
- APBB2 p.Arg567Gly Uncertain significance Single submitter
- APBB2 p.Arg721Gln Uncertain significance Single submitter
- APBB2 p.Asn46Ser Uncertain significance Single submitter
- APBB2 p.Asp205Asn Uncertain significance Single submitter
- APBB2 p.Asp25Glu Uncertain significance Single submitter
- APBB2 p.Asp290Glu Uncertain significance Single submitter
- APBB2 p.Asp302Asn Uncertain significance Single submitter
- APBB2 p.Asp518Glu Uncertain significance Single submitter
- APBB2 p.Asp83Tyr Uncertain significance Single submitter
- APBB2 p.Gln215His Uncertain significance Single submitter
- APBB2 p.Gln267Glu Uncertain significance Single submitter
- APBB2 p.Gln288Leu Uncertain significance Single submitter
- APBB2 p.Gln317Arg Uncertain significance Single submitter
- APBB2 p.Glu136Asp Uncertain significance Single submitter
- APBB2 p.Glu139Lys Uncertain significance Single submitter
- APBB2 p.Glu319Gln Uncertain significance Single submitter
- APBB2 p.Glu348Lys Uncertain significance Single submitter
- APBB2 p.Glu697Val Uncertain significance Single submitter
- APBB2 p.Glu757Lys Uncertain significance Single submitter
- APBB2 p.Gly202Ala Uncertain significance Single submitter
- APBB2 p.Gly330Arg Uncertain significance Single submitter
- APBB2 p.Gly91Ala Uncertain significance Single submitter
- APBB2 p.His183Arg Uncertain significance Single submitter
- APBB2 p.His248Asn Uncertain significance Single submitter
- APBB2 p.Ile201Thr Uncertain significance Single submitter
- APBB2 p.Ile458Leu Uncertain significance Single submitter
- APBB2 p.Ile53Met Uncertain significance Single submitter
- APBB2 p.Leu247Val Uncertain significance Single submitter
- APBB2 p.Leu49Val Uncertain significance Single submitter
- APBB2 p.Leu572Val Uncertain significance Single submitter
- APBB2 p.Lys548Arg Uncertain significance Single submitter
- APBB2 p.Lys59Thr Uncertain significance Single submitter
- APBB2 p.Met471Val Uncertain significance Single submitter
- APBB2 p.Met486Thr Uncertain significance Single submitter
- APBB2 p.Met598Thr Uncertain significance Single submitter
- APBB2 p.Met618Lys Uncertain significance Single submitter
- APBB2 p.Pro140Arg Uncertain significance Single submitter
- APBB2 p.Pro142Ala Uncertain significance Single submitter
- APBB2 p.Pro192Gln Uncertain significance Single submitter
- APBB2 p.Pro214Ser Uncertain significance Single submitter
- APBB2 p.Pro321Thr Uncertain significance Single submitter
- APBB2 p.Pro534Thr Uncertain significance Single submitter
- APBB2 p.Pro723Ala Uncertain significance Single submitter
- APBB2 p.Pro725Ser Uncertain significance Single submitter
- APBB2 p.Pro726Leu Uncertain significance Single submitter
- APBB2 p.Pro754Leu Uncertain significance Single submitter
- APBB2 p.Ser146Leu Uncertain significance Single submitter
- APBB2 p.Ser147Ile Uncertain significance Single submitter
- APBB2 p.Ser190Tyr Uncertain significance Single submitter
- APBB2 p.Ser331Pro Uncertain significance Single submitter
- APBB2 p.Ser547Pro Uncertain significance Single submitter
- APBB2 p.Ser61Asn Uncertain significance Single submitter
- APBB2 p.Ser621Phe Uncertain significance Single submitter
- APBB2 p.Ser642Asn Uncertain significance Single submitter
- APBB2 p.Ser744Phe Uncertain significance Single submitter
- APBB2 p.Ser82Leu Uncertain significance Single submitter
- APBB2 p.Thr125Ala Uncertain significance Single submitter
- APBB2 p.Thr313Ala Uncertain significance Single submitter
- APBB2 p.Thr375Ala Uncertain significance Single submitter
- APBB2 p.Thr56Pro Uncertain significance Single submitter
- APBB2 p.Thr669Ile Uncertain significance Single submitter
- APBB2 p.Trp502Gly Uncertain significance Single submitter
- APBB2 p.Tyr707His Uncertain significance Single submitter
- APBB2 p.Val26Ile Uncertain significance Single submitter
- APBB2 p.Val322Ile Uncertain significance Single submitter
- APBB2 p.Val422Leu Uncertain significance Single submitter
- APBB2 p.Val428Leu Uncertain significance Single submitter
- APBB2 p.Val497Ile Uncertain significance Single submitter
- APBB2 p.Val4Ile Uncertain significance Single submitter
- APBB2 p.Val504Met Uncertain significance Single submitter
- APBB2 p.Val593Met Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- APBB2 p.Ala71Val Uncertain significance Single submitter
- APBB2 p.Arg108His Uncertain significance Single submitter
- APBB2 p.Arg320Gln Uncertain significance Single submitter
- APBB2 p.Glu433Lys Uncertain significance Single submitter
- APBB2 p.Glu544Lys Uncertain significance Single submitter
- APBB2 p.Glu643Lys Uncertain significance Single submitter
- APBB2 p.Gly438Ser Uncertain significance Single submitter
- APBB2 p.Ile303Ser Uncertain significance Single submitter
- APBB2 p.Ile746Thr Uncertain significance Single submitter
- APBB2 p.Leu382Ile Uncertain significance Single submitter
- APBB2 p.Leu41Phe Uncertain significance Single submitter
- APBB2 p.Leu72Pro Uncertain significance Single submitter
- APBB2 p.Lys590Glu Uncertain significance Single submitter
- APBB2 p.Phe17Leu Uncertain significance Single submitter
- APBB2 p.Pro294Ala Uncertain significance Single submitter
- APBB2 p.Pro312Ala Uncertain significance Single submitter
- APBB2 p.Ser44Phe Uncertain significance Single submitter
- APBB2 p.Thr461Ile Uncertain significance Single submitter
- APBB2 p.Tyr165Ser Uncertain significance Single submitter
- APBB2 p.Val649Ala Uncertain significance Single submitter
All APBB2 variants
Benign 1
- c.20-6C>T Multiple submitters
Likely benign 2
- p.Leu122Val Single submitter
- p.Pro403Ala Single submitter
Uncertain significance 108
- p.Ala111Val Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala224Asp Single submitter ⚠
- p.Ala279Val Single submitter
- p.Ala436Pro Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala727Val Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Arg108His Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg423Cys Single submitter ⚠
- p.Arg488His Single submitter ⚠
- p.Arg500His Single submitter ⚠
- p.Arg567Gly Single submitter ⚠
- p.Arg721Gln Single submitter ⚠
- p.Asn46Ser Single submitter ⚠
- p.Asp205Asn Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp290Glu Single submitter ⚠
- p.Asp302Asn Single submitter ⚠
- p.Asp518Glu Single submitter ⚠
- p.Asp83Tyr Single submitter ⚠
- p.Gln215His Single submitter ⚠
- p.Gln267Glu Single submitter ⚠
- p.Gln288Leu Single submitter ⚠
- p.Gln317Arg Single submitter ⚠
- p.Glu136Asp Single submitter ⚠
- p.Glu139Lys Single submitter ⚠
- p.Glu319Gln Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu433Lys Single submitter ⚠
- p.Glu544Lys Single submitter ⚠
- p.Glu643Lys Single submitter ⚠
- p.Glu697Val Single submitter ⚠
- p.Glu757Lys Single submitter ⚠
- p.Gly202Ala Single submitter ⚠
- p.Gly330Arg Single submitter ⚠
- p.Gly438Ser Single submitter ⚠
- p.Gly91Ala Single submitter ⚠
- p.His183Arg Single submitter ⚠
- p.His248Asn Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile303Ser Single submitter ⚠
- p.Ile458Leu Single submitter ⚠
- p.Ile53Met Single submitter ⚠
- p.Ile746Thr Single submitter ⚠
- p.Leu247Val Single submitter ⚠
- p.Leu382Ile Single submitter ⚠
- p.Leu41Phe Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu572Val Single submitter ⚠
- p.Leu72Pro Single submitter ⚠
- p.Lys548Arg Single submitter ⚠
- p.Lys590Glu Single submitter ⚠
- p.Lys59Thr Single submitter ⚠
- p.Met471Val Single submitter ⚠
- p.Met486Thr Single submitter ⚠
- p.Met598Thr Single submitter ⚠
- p.Met618Lys Single submitter ⚠
- p.Met79Val Single submitter
- p.Phe17Leu Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro142Ala Single submitter ⚠
- p.Pro192Gln Single submitter ⚠
- p.Pro214Ser Single submitter ⚠
- p.Pro294Ala Single submitter ⚠
- p.Pro312Ala Single submitter ⚠
- p.Pro321Thr Single submitter ⚠
- p.Pro534Thr Single submitter ⚠
- p.Pro723Ala Single submitter ⚠
- p.Pro725Ser Single submitter ⚠
- p.Pro726Leu Single submitter ⚠
- p.Pro754Leu Single submitter ⚠
- p.Ser146Leu Single submitter ⚠
- p.Ser147Ile Single submitter ⚠
- p.Ser190Tyr Single submitter ⚠
- p.Ser331Pro Single submitter ⚠
- p.Ser44Phe Single submitter ⚠
- p.Ser493Trp Single submitter
- p.Ser547Pro Single submitter ⚠
- p.Ser61Asn Single submitter ⚠
- p.Ser621Phe Single submitter ⚠
- p.Ser642Asn Single submitter ⚠
- p.Ser744Phe Single submitter ⚠
- p.Ser82Leu Single submitter ⚠
- p.Thr125Ala Single submitter ⚠
- p.Thr264Ala Single submitter
- p.Thr264Met Single submitter
- p.Thr313Ala Single submitter ⚠
- p.Thr375Ala Single submitter ⚠
- p.Thr461Ile Single submitter ⚠
- p.Thr56Pro Single submitter ⚠
- p.Thr669Ile Single submitter ⚠
- p.Trp502Gly Single submitter ⚠
- p.Tyr165Ser Single submitter ⚠
- p.Tyr707His Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val322Ile Single submitter ⚠
- p.Val422Leu Single submitter ⚠
- p.Val428Leu Single submitter ⚠
- p.Val497Ile Single submitter ⚠
- p.Val4Ile Single submitter ⚠
- p.Val504Met Single submitter ⚠
- p.Val593Met Single submitter ⚠
- p.Val649Ala Single submitter ⚠