APOA2 — 33 ClinVar variants
All ClinVar germline APOA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 11 Benign · 2 Benign/Likely benign · 3 Likely benign · 14 Uncertain significance
Full APOA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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APOA2 p.Lys77Gln
Uncertain significance
Multiple submitters
apolipoprotein A-II deficiency
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APOA2 p.Val41Met
Uncertain significance
Multiple submitters
apolipoprotein A-II deficiency
- APOA2 p.Leu83Gln Uncertain significance Single submitter
- APOA2 p.Val41Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- APOA2 p.Ala98Asp Uncertain significance Single submitter
- APOA2 p.Gln58Arg Uncertain significance Single submitter
- APOA2 p.Leu20Phe Uncertain significance Single submitter
- APOA2 p.Lys51Arg Uncertain significance Single submitter
- APOA2 p.Thr99Ile Uncertain significance Single submitter
- APOA2 p.Tyr44His Uncertain significance Single submitter
All APOA2 variants
Pathogenic 1
- c.185+1G>A No assertion criteria apolipoprotein A-II deficiency
Likely pathogenic 2
- p.Ter101Arg Multiple submitters
- p.Ter101Gly Single submitter
Benign 11
- c.186-4C>T Multiple submitters apolipoprotein A-II deficiency
- c.53-43TG[16] Multiple submitters
- c.53-43TG[20] Multiple submitters
- c.53-43TG[22] Multiple submitters
- p.Gln96= Multiple submitters
- c.53-11_53-4del Single submitter
- c.53-43TG[13] Single submitter
- c.53-43TG[14] Single submitter
- c.53-43TG[15] Single submitter
- c.53-43TG[18] Single submitter
- p.Leu83= Single submitter
Benign/Likely benign 2
- c.53-43TG[17] Multiple submitters
- c.53-43TG[21] Multiple submitters
Likely benign 3
- c.186-19A>C Single submitter
- c.52+3G>A Single submitter
- c.53-43TG[11] No assertion criteria APOA2-related disorder
Uncertain significance 14
- p.Lys77Gln Multiple submitters apolipoprotein A-II deficiency ⚠
- p.Val41Met Multiple submitters apolipoprotein A-II deficiency ⚠
- c.-21G>A Single submitter apolipoprotein A-II deficiency
- c.-323C>T Single submitter apolipoprotein A-II amyloidosis
- c.-47C>T Single submitter apolipoprotein A-II deficiency
- p.Ala98Asp Single submitter ⚠
- p.Gln58Arg Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu83Gln Single submitter ⚠
- p.Lys51Arg Single submitter ⚠
- p.Thr81= Single submitter apolipoprotein A-II deficiency
- p.Thr99Ile Single submitter ⚠
- p.Tyr44His Single submitter ⚠
- p.Val41Leu Single submitter ⚠