APBA1 — 112 ClinVar variants
All ClinVar germline APBA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
1 Benign · 2 Likely benign · 109 Uncertain significance
Full APBA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APBA1 p.Ala225Val Uncertain significance Single submitter
- APBA1 p.Ala506Pro Uncertain significance Single submitter
- APBA1 p.Ala574Val Uncertain significance Single submitter
- APBA1 p.Arg177His Uncertain significance Single submitter
- APBA1 p.Arg210Gly Uncertain significance Single submitter
- APBA1 p.Arg227His Uncertain significance Single submitter
- APBA1 p.Arg560Cys Uncertain significance Single submitter
- APBA1 p.Arg560His Uncertain significance Single submitter
- APBA1 p.Arg561Trp Uncertain significance Single submitter
- APBA1 p.Asn22Lys Uncertain significance Single submitter
- APBA1 p.Asn567Thr Uncertain significance Single submitter
- APBA1 p.Asn701Ile Uncertain significance Single submitter
- APBA1 p.Asp211Gly Uncertain significance Single submitter
- APBA1 p.Asp211Tyr Uncertain significance Single submitter
- APBA1 p.Asp392Asn Uncertain significance Single submitter
- APBA1 p.Asp392Glu Uncertain significance Single submitter
- APBA1 p.Asp393Val Uncertain significance Single submitter
- APBA1 p.Asp704Asn Uncertain significance Single submitter
- APBA1 p.Gln394Leu Uncertain significance Single submitter
- APBA1 p.Gln52Lys Uncertain significance Single submitter
- APBA1 p.Gln598Arg Uncertain significance Single submitter
- APBA1 p.Glu413Gly Uncertain significance Single submitter
- APBA1 p.Glu426Lys Uncertain significance Single submitter
- APBA1 p.Glu510Lys Uncertain significance Single submitter
- APBA1 p.Glu516Lys Uncertain significance Single submitter
- APBA1 p.Glu593Lys Uncertain significance Single submitter
- APBA1 p.Gly167Asp Uncertain significance Single submitter
- APBA1 p.Gly467Asp Uncertain significance Single submitter
- APBA1 p.Gly54Arg Uncertain significance Single submitter
- APBA1 p.Gly760Ser Uncertain significance Single submitter
- APBA1 p.Gly775Ala Uncertain significance Single submitter
- APBA1 p.His237Tyr Uncertain significance Single submitter
- APBA1 p.His46Arg Uncertain significance Single submitter
- APBA1 p.His590Arg Uncertain significance Single submitter
- APBA1 p.Ile548Thr Uncertain significance Single submitter
- APBA1 p.Ile768Thr Uncertain significance Single submitter
- APBA1 p.Leu193Phe Uncertain significance Single submitter
- APBA1 p.Leu207Pro Uncertain significance Single submitter
- APBA1 p.Leu700Arg Uncertain significance Single submitter
- APBA1 p.Lys504Met Uncertain significance Single submitter
- APBA1 p.Lys736Glu Uncertain significance Single submitter
- APBA1 p.Met161Arg Uncertain significance Single submitter
- APBA1 p.Met483Val Uncertain significance Single submitter
- APBA1 p.Met824Val Uncertain significance Single submitter
- APBA1 p.Phe152Ile Uncertain significance Single submitter
- APBA1 p.Pro303Arg Uncertain significance Single submitter
- APBA1 p.Pro303Ser Uncertain significance Single submitter
- APBA1 p.Pro396Gln Uncertain significance Single submitter
- APBA1 p.Pro409His Uncertain significance Single submitter
- APBA1 p.Pro409Leu Uncertain significance Single submitter
- APBA1 p.Pro447Leu Uncertain significance Single submitter
- APBA1 p.Pro564Arg Uncertain significance Single submitter
- APBA1 p.Pro800Arg Uncertain significance Single submitter
- APBA1 p.Ser184Tyr Uncertain significance Single submitter
- APBA1 p.Ser627Gly Uncertain significance Single submitter
- APBA1 p.Ser651Leu Uncertain significance Single submitter
- APBA1 p.Thr81Ala Uncertain significance Single submitter
- APBA1 p.Val360Met Uncertain significance Single submitter
- APBA1 p.Val481Met Uncertain significance Single submitter
- APBA1 p.Val555Ala Uncertain significance Single submitter
- APBA1 p.Val556Leu Uncertain significance Single submitter
- APBA1 p.Val572Met Uncertain significance Single submitter
- APBA1 p.Val670Met Uncertain significance Single submitter
- APBA1 p.Val683Met Uncertain significance Single submitter
- APBA1 p.Val763Ile Uncertain significance Single submitter
- APBA1 p.Val784Met Uncertain significance Single submitter
- APBA1 p.Val796Ile Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- APBA1 p.Asn810Ser Uncertain significance Multiple submitters
- APBA1 p.Ala329Val Uncertain significance Single submitter
- APBA1 p.Ala345Thr Uncertain significance Single submitter
- APBA1 p.Arg143Cys Uncertain significance Single submitter
- APBA1 p.Arg302His Uncertain significance Single submitter
- APBA1 p.Arg503Gly Uncertain significance Single submitter
- APBA1 p.Arg561Gln Uncertain significance Single submitter
- APBA1 p.Arg562Gln Uncertain significance Single submitter
- APBA1 p.Arg565Cys Uncertain significance Single submitter
- APBA1 p.Arg565Gly Uncertain significance Single submitter
- APBA1 p.Arg565His Uncertain significance Single submitter
- APBA1 p.Asn464Ser Uncertain significance Single submitter
- APBA1 p.Asn636Ser Uncertain significance Single submitter
- APBA1 p.Asn731Ile Uncertain significance Single submitter
- APBA1 p.Asp643Asn Uncertain significance Single submitter
- APBA1 p.Gln512His Uncertain significance Single submitter
- APBA1 p.Gln732Arg Uncertain significance Single submitter
- APBA1 p.Glu200Asp Uncertain significance Single submitter
- APBA1 p.Glu217Lys Uncertain significance Single submitter
- APBA1 p.Glu265Gln Uncertain significance Single submitter
- APBA1 p.Glu333Lys Uncertain significance Single submitter
- APBA1 p.Gly509Asp Uncertain significance Single submitter
- APBA1 p.Ile350Val Uncertain significance Single submitter
- APBA1 p.Ile357Val Uncertain significance Single submitter
- APBA1 p.Ile545Val Uncertain significance Single submitter
- APBA1 p.Ile726Val Uncertain significance Single submitter
- APBA1 p.Ile739Val Uncertain significance Single submitter
- APBA1 p.Ile837Leu Uncertain significance Single submitter
- APBA1 p.Leu235Pro Uncertain significance Single submitter
- APBA1 p.Met484Ile Uncertain significance Single submitter
- APBA1 p.Pro259Arg Uncertain significance Single submitter
- APBA1 p.Ser116Arg Uncertain significance Single submitter
- APBA1 p.Ser407Phe Uncertain significance Single submitter
- APBA1 p.Ser414Leu Uncertain significance Single submitter
- APBA1 p.Ser491Asn Uncertain significance Single submitter
- APBA1 p.Ser511Tyr Uncertain significance Single submitter
- APBA1 p.Ser566Cys Uncertain significance Single submitter
- APBA1 p.Tyr118Ser Uncertain significance Single submitter
- APBA1 p.Tyr165His Uncertain significance Single submitter
- APBA1 p.Tyr183Cys Uncertain significance Single submitter
- APBA1 p.Tyr190Cys Uncertain significance Single submitter
- APBA1 p.Val805Ile Uncertain significance Single submitter
All APBA1 variants
Benign 1
- p.Ser347= Single submitter
Likely benign 2
- p.Ile456= Single submitter
- p.Ser416Gly Single submitter
Uncertain significance 109
- p.Asn810Ser Multiple submitters ⚠
- p.Ala225Val Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala506Pro Single submitter ⚠
- p.Ala574Val Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg210Gly Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg302His Single submitter ⚠
- p.Arg503Gly Single submitter ⚠
- p.Arg560Cys Single submitter ⚠
- p.Arg560His Single submitter ⚠
- p.Arg561Gln Single submitter ⚠
- p.Arg561Trp Single submitter ⚠
- p.Arg562Gln Single submitter ⚠
- p.Arg565Cys Single submitter ⚠
- p.Arg565Gly Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Asn22Lys Single submitter ⚠
- p.Asn464Ser Single submitter ⚠
- p.Asn567Thr Single submitter ⚠
- p.Asn636Ser Single submitter ⚠
- p.Asn701Ile Single submitter ⚠
- p.Asn731Ile Single submitter ⚠
- p.Asp211Gly Single submitter ⚠
- p.Asp211Tyr Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Asp392Glu Single submitter ⚠
- p.Asp393Val Single submitter ⚠
- p.Asp643Asn Single submitter ⚠
- p.Asp704Asn Single submitter ⚠
- p.Gln394Leu Single submitter ⚠
- p.Gln512His Single submitter ⚠
- p.Gln52Lys Single submitter ⚠
- p.Gln598Arg Single submitter ⚠
- p.Gln732Arg Single submitter ⚠
- p.Glu200Asp Single submitter ⚠
- p.Glu217Lys Single submitter ⚠
- p.Glu265Gln Single submitter ⚠
- p.Glu333Lys Single submitter ⚠
- p.Glu413Gly Single submitter ⚠
- p.Glu426Lys Single submitter ⚠
- p.Glu510Lys Single submitter ⚠
- p.Glu516Lys Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Gly167Asp Single submitter ⚠
- p.Gly467Asp Single submitter ⚠
- p.Gly509Asp Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly760Ser Single submitter ⚠
- p.Gly775Ala Single submitter ⚠
- p.His237Tyr Single submitter ⚠
- p.His46Arg Single submitter ⚠
- p.His590Arg Single submitter ⚠
- p.Ile350Val Single submitter ⚠
- p.Ile357Val Single submitter ⚠
- p.Ile545Val Single submitter ⚠
- p.Ile548Thr Single submitter ⚠
- p.Ile726Val Single submitter ⚠
- p.Ile739Val Single submitter ⚠
- p.Ile768Thr Single submitter ⚠
- p.Ile837Leu Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu207Pro Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Leu700Arg Single submitter ⚠
- p.Lys504Met Single submitter ⚠
- p.Lys736Glu Single submitter ⚠
- p.Met161Arg Single submitter ⚠
- p.Met483Val Single submitter ⚠
- p.Met484Ile Single submitter ⚠
- p.Met824Val Single submitter ⚠
- p.Phe152Ile Single submitter ⚠
- p.Pro259Arg Single submitter ⚠
- p.Pro303Arg Single submitter ⚠
- p.Pro303Ser Single submitter ⚠
- p.Pro396Gln Single submitter ⚠
- p.Pro409His Single submitter ⚠
- p.Pro409Leu Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro564Arg Single submitter ⚠
- p.Pro800Arg Single submitter ⚠
- p.Ser116Arg Single submitter ⚠
- p.Ser184Tyr Single submitter ⚠
- p.Ser407Phe Single submitter ⚠
- p.Ser414Leu Single submitter ⚠
- p.Ser491Asn Single submitter ⚠
- p.Ser511Tyr Single submitter ⚠
- p.Ser566Cys Single submitter ⚠
- p.Ser627Gly Single submitter ⚠
- p.Ser651Leu Single submitter ⚠
- p.Thr81Ala Single submitter ⚠
- p.Tyr118Ser Single submitter ⚠
- p.Tyr165His Single submitter ⚠
- p.Tyr183Cys Single submitter ⚠
- p.Tyr190Cys Single submitter ⚠
- p.Val360Met Single submitter ⚠
- p.Val481Met Single submitter ⚠
- p.Val555Ala Single submitter ⚠
- p.Val556Leu Single submitter ⚠
- p.Val572Met Single submitter ⚠
- p.Val670Met Single submitter ⚠
- p.Val683Met Single submitter ⚠
- p.Val763Ile Single submitter ⚠
- p.Val784Met Single submitter ⚠
- p.Val796Ile Single submitter ⚠
- p.Val805Ile Single submitter ⚠