APBA2 — 155 ClinVar variants
All ClinVar germline APBA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
15 Benign · 2 Benign/Likely benign · 31 Likely benign · 107 Uncertain significance
Full APBA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APBA2 p.Val77Met Uncertain significance Multiple submitters
- APBA2 p.Ala123Thr Uncertain significance Single submitter
- APBA2 p.Ala126Val Uncertain significance Single submitter
- APBA2 p.Ala177Val Uncertain significance Single submitter
- APBA2 p.Ala207Thr Uncertain significance Single submitter
- APBA2 p.Ala245Ser Uncertain significance Single submitter
- APBA2 p.Ala245Thr Uncertain significance Single submitter
- APBA2 p.Ala279Val Uncertain significance Single submitter
- APBA2 p.Ala417Val Uncertain significance Single submitter
- APBA2 p.Ala423Thr Uncertain significance Single submitter
- APBA2 p.Ala461Thr Uncertain significance Single submitter
- APBA2 p.Ala490Thr Uncertain significance Single submitter
- APBA2 p.Ala50Gly Uncertain significance Single submitter
- APBA2 p.Ala50Val Uncertain significance Single submitter
- APBA2 p.Ala519Val Uncertain significance Single submitter
- APBA2 p.Ala712Val Uncertain significance Single submitter
- APBA2 p.Arg211Cys Uncertain significance Single submitter
- APBA2 p.Arg455Cys Uncertain significance Single submitter
- APBA2 p.Arg473Ser Uncertain significance Single submitter
- APBA2 p.Arg474Cys Uncertain significance Single submitter
- APBA2 p.Asn202Lys Uncertain significance Single submitter
- APBA2 p.Asn334Asp Uncertain significance Single submitter
- APBA2 p.Asn341Tyr Uncertain significance Single submitter
- APBA2 p.Asn65Ser Uncertain significance Single submitter
- APBA2 p.Asp108Val Uncertain significance Single submitter
- APBA2 p.Asp430Glu Uncertain significance Single submitter
- APBA2 p.Asp69Asn Uncertain significance Single submitter
- APBA2 p.Cys265Tyr Uncertain significance Single submitter
- APBA2 p.Cys361Trp Uncertain significance Single submitter
- APBA2 p.Gln297Arg Uncertain significance Single submitter
- APBA2 p.Glu278Lys Uncertain significance Single submitter
- APBA2 p.Glu35Asp Uncertain significance Single submitter
- APBA2 p.Glu59Gly Uncertain significance Single submitter
- APBA2 p.Glu714Lys Uncertain significance Single submitter
- APBA2 p.Glu7Asp Uncertain significance Single submitter
- APBA2 p.Gly146Ser Uncertain significance Single submitter
- APBA2 p.Gly206Asp Uncertain significance Single submitter
- APBA2 p.Gly206Cys Uncertain significance Single submitter
- APBA2 p.Gly45Asp Uncertain significance Single submitter
- APBA2 p.Gly493Ser Uncertain significance Single submitter
- APBA2 p.Gly603Ala Uncertain significance Single submitter
- APBA2 p.Gly725Arg Uncertain significance Single submitter
- APBA2 p.Gly89Ser Uncertain significance Single submitter
- APBA2 p.His148Gln Uncertain significance Single submitter
- APBA2 p.His148Tyr Uncertain significance Single submitter
- APBA2 p.His713Asn Uncertain significance Single submitter
- APBA2 p.Ile226Val Uncertain significance Single submitter
- APBA2 p.Ile516Phe Uncertain significance Single submitter
- APBA2 p.Ile679Thr Uncertain significance Single submitter
- APBA2 p.Ile97Val Uncertain significance Single submitter
- APBA2 p.Pro147Leu Uncertain significance Single submitter
- APBA2 p.Pro149Ser Uncertain significance Single submitter
- APBA2 p.Pro166Ala Uncertain significance Single submitter
- APBA2 p.Pro172Ser Uncertain significance Single submitter
- APBA2 p.Pro198Leu Uncertain significance Single submitter
- APBA2 p.Pro22Ser Uncertain significance Single submitter
- APBA2 p.Pro293Ser Uncertain significance Single submitter
- APBA2 p.Pro307Thr Uncertain significance Single submitter
- APBA2 p.Pro388Ala Uncertain significance Single submitter
- APBA2 p.Pro605Leu Uncertain significance Single submitter
- APBA2 p.Pro655Ser Uncertain significance Single submitter
- APBA2 p.Ser11Asn Uncertain significance Single submitter
- APBA2 p.Ser31Asn Uncertain significance Single submitter
- APBA2 p.Ser506Leu Uncertain significance Single submitter
- APBA2 p.Ser723Leu Uncertain significance Single submitter
- APBA2 p.Thr594Ala Uncertain significance Single submitter
- APBA2 p.Tyr210Asp Uncertain significance Single submitter
- APBA2 p.Tyr376His Uncertain significance Single submitter
- APBA2 p.Val174Ile Uncertain significance Single submitter
- APBA2 p.Val318Ile Uncertain significance Single submitter
- APBA2 p.Val337Ile Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- APBA2 p.Ser55Asn Likely benign Multiple submitters
- APBA2 p.Ala607Val Uncertain significance Single submitter
- APBA2 p.Arg280Gly Uncertain significance Single submitter
- APBA2 p.Arg474His Uncertain significance Single submitter
- APBA2 p.Arg477Trp Uncertain significance Single submitter
- APBA2 p.Arg4Trp Uncertain significance Single submitter
- APBA2 p.Arg529Gln Uncertain significance Single submitter
- APBA2 p.Asn375Ser Uncertain significance Single submitter
- APBA2 p.Asn531Ser Uncertain significance Single submitter
- APBA2 p.Asn599Ser Uncertain significance Single submitter
- APBA2 p.Asp225Asn Uncertain significance Single submitter
- APBA2 p.Asp71His Uncertain significance Single submitter
- APBA2 p.Gln644His Uncertain significance Single submitter
- APBA2 p.Glu181Lys Uncertain significance Single submitter
- APBA2 p.Glu255Gln Uncertain significance Single submitter
- APBA2 p.Glu32Lys Uncertain significance Single submitter
- APBA2 p.Glu94Lys Uncertain significance Single submitter
- APBA2 p.Gly118Arg Uncertain significance Single submitter
- APBA2 p.Gly489Arg Uncertain significance Single submitter
- APBA2 p.Ile578Met Uncertain significance Single submitter
- APBA2 p.Ile614Val Uncertain significance Single submitter
- APBA2 p.Lys414Gln Uncertain significance Single submitter
- APBA2 p.Lys611Arg Uncertain significance Single submitter
- APBA2 p.Met395Leu Uncertain significance Single submitter
- APBA2 p.Met736Thr Uncertain significance Single submitter
- APBA2 p.Phe354Leu Uncertain significance Single submitter
- APBA2 p.Pro476Leu Uncertain significance Single submitter
- APBA2 p.Pro476Ser Uncertain significance Single submitter
- APBA2 p.Ser238Arg Uncertain significance Single submitter
- APBA2 p.Ser246Arg Uncertain significance Single submitter
- APBA2 p.Ser283Leu Uncertain significance Single submitter
- APBA2 p.Ser283Thr Uncertain significance Single submitter
- APBA2 p.Ser478Pro Uncertain significance Single submitter
- APBA2 p.Ser609Leu Uncertain significance Single submitter
- APBA2 p.Thr427Met Uncertain significance Single submitter
- APBA2 p.Tyr76Cys Uncertain significance Single submitter
- APBA2 p.Val694Ile Uncertain significance Single submitter
All APBA2 variants
Benign 15
- c.1216-9T>C Multiple submitters
- c.1705-9C>T Multiple submitters
- p.Asp87= Multiple submitters
- p.Gly206= Multiple submitters
- p.His127= Multiple submitters
- p.Ile101= Multiple submitters
- p.Ile512= Multiple submitters
- p.Leu629= Multiple submitters
- p.Ser11= Multiple submitters
- p.Ser144Leu Multiple submitters
- p.Ser173= Multiple submitters
- p.Pro168Leu Single submitter
- p.Ser723= Single submitter
- p.Arg52Gln No assertion criteria APBA2-related disorder
- p.Gly603= No assertion criteria APBA2-related disorder
Likely benign 31
- c.1525-8C>G Multiple submitters
- p.Ser55Asn Multiple submitters ⚠
- p.Ala57Thr Single submitter
- p.Ala57Val Single submitter
- p.Asn117= Single submitter
- p.Asn554= Single submitter
- p.Glu119= Single submitter
- p.Gly12Ser Single submitter
- p.Gly359= Single submitter
- p.Gly697= Single submitter
- p.Ile596= Single submitter
- p.Lys541= Single submitter
- p.Pro128His Single submitter
- p.Ser609= Single submitter
- p.Tyr100= Single submitter
- c.1070-9C>T No assertion criteria APBA2-related disorder
- c.952-3825C>T No assertion criteria APBA2-related disorder
- c.*7C>T No assertion criteria APBA2-related disorder
- p.Asn704= No assertion criteria APBA2-related disorder
- p.Asn722Ser No assertion criteria APBA2-related disorder
- p.Asp162= No assertion criteria APBA2-related disorder
- p.Gln408= No assertion criteria APBA2-related disorder
- p.Ile229= No assertion criteria APBA2-related disorder
- p.Ile614= No assertion criteria APBA2-related disorder
- p.Pro288= No assertion criteria APBA2-related disorder
- p.Pro656= No assertion criteria APBA2-related disorder
- p.Ser244= No assertion criteria APBA2-related disorder
- p.Ser402= No assertion criteria APBA2-related disorder
- p.Ser73= No assertion criteria APBA2-related disorder
- p.Thr142= No assertion criteria APBA2-related disorder
- p.Thr741= No assertion criteria APBA2-related disorder
Uncertain significance 107
- p.Val77Met Multiple submitters ⚠
- p.Ala123Thr Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala207Thr Single submitter ⚠
- p.Ala245Ser Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala417Val Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala461Thr Single submitter ⚠
- p.Ala490Thr Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala519Val Single submitter ⚠
- p.Ala607Val Single submitter ⚠
- p.Ala712Val Single submitter ⚠
- p.Arg211Cys Single submitter ⚠
- p.Arg280Gly Single submitter ⚠
- p.Arg455Cys Single submitter ⚠
- p.Arg473Ser Single submitter ⚠
- p.Arg474Cys Single submitter ⚠
- p.Arg474His Single submitter ⚠
- p.Arg477Trp Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Arg529Gln Single submitter ⚠
- p.Asn202Lys Single submitter ⚠
- p.Asn334Asp Single submitter ⚠
- p.Asn341Tyr Single submitter ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asn531Ser Single submitter ⚠
- p.Asn599Ser Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp108Val Single submitter ⚠
- p.Asp225Asn Single submitter ⚠
- p.Asp430Glu Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Asp71His Single submitter ⚠
- p.Cys265Tyr Single submitter ⚠
- p.Cys361Trp Single submitter ⚠
- p.Gln297Arg Single submitter ⚠
- p.Gln644His Single submitter ⚠
- p.Glu181Lys Single submitter ⚠
- p.Glu255Gln Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu32Lys Single submitter ⚠
- p.Glu35Asp Single submitter ⚠
- p.Glu59Gly Single submitter ⚠
- p.Glu714Lys Single submitter ⚠
- p.Glu7Asp Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly206Asp Single submitter ⚠
- p.Gly206Cys Single submitter ⚠
- p.Gly45Asp Single submitter ⚠
- p.Gly489Arg Single submitter ⚠
- p.Gly493Ser Single submitter ⚠
- p.Gly603Ala Single submitter ⚠
- p.Gly725Arg Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.His148Gln Single submitter ⚠
- p.His148Tyr Single submitter ⚠
- p.His713Asn Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Ile516Phe Single submitter ⚠
- p.Ile578Met Single submitter ⚠
- p.Ile614Val Single submitter ⚠
- p.Ile679Thr Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Lys414Gln Single submitter ⚠
- p.Lys611Arg Single submitter ⚠
- p.Met395Leu Single submitter ⚠
- p.Met736Thr Single submitter ⚠
- p.Phe354Leu Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro149Ser Single submitter ⚠
- p.Pro166Ala Single submitter ⚠
- p.Pro172Ser Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro293Ser Single submitter ⚠
- p.Pro307Thr Single submitter ⚠
- p.Pro388Ala Single submitter ⚠
- p.Pro476Leu Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro605Leu Single submitter ⚠
- p.Pro655Ser Single submitter ⚠
- p.Ser11Asn Single submitter ⚠
- p.Ser238Arg Single submitter ⚠
- p.Ser246Arg Single submitter ⚠
- p.Ser283Leu Single submitter ⚠
- p.Ser283Thr Single submitter ⚠
- p.Ser31Asn Single submitter ⚠
- p.Ser478Pro Single submitter ⚠
- p.Ser506Leu Single submitter ⚠
- p.Ser609Leu Single submitter ⚠
- p.Ser723Leu Single submitter ⚠
- p.Thr427Met Single submitter ⚠
- p.Thr594Ala Single submitter ⚠
- p.Tyr210Asp Single submitter ⚠
- p.Tyr376His Single submitter ⚠
- p.Tyr76Cys Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val318Ile Single submitter ⚠
- p.Val337Ile Single submitter ⚠
- p.Val694Ile Single submitter ⚠