APOO — 32 ClinVar variants
All ClinVar germline APOO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Pathogenic · 1 Conflicting · 2 Benign · 3 Likely benign · 25 Uncertain significance
Full APOO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APOO p.Glu72Lys Uncertain significance Single submitter
- APOO p.Ile133Met Uncertain significance Single submitter
- APOO p.Leu136Ile Uncertain significance Single submitter
- APOO p.Lys26Glu Uncertain significance Single submitter
- APOO p.Lys36Asn Uncertain significance Single submitter
- APOO p.Lys51Glu Uncertain significance Single submitter
- APOO p.Pro25Ala Uncertain significance Single submitter
- APOO p.Pro30Leu Uncertain significance Single submitter
- APOO p.Ser148Tyr Uncertain significance Single submitter
- APOO p.Thr18Ile Uncertain significance Single submitter
- APOO p.Val157Met Uncertain significance Single submitter
- APOO p.Val93Phe Uncertain significance Single submitter
- APOO p.Val9Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- APOO p.Ala12Gly Uncertain significance Single submitter
- APOO p.Asp98Glu Uncertain significance Single submitter
- APOO p.Gly163Ala Uncertain significance Single submitter
- APOO p.Gly173Glu Uncertain significance Single submitter
-
APOO p.Ile117Thr
Pathogenic
Single submitter
Cognitive impairment and autistic features
- APOO p.Met143Val Uncertain significance Single submitter
- APOO p.Phe19Ser Uncertain significance Single submitter
- APOO p.Thr75Lys Uncertain significance Single submitter
- APOO p.Thr75Ser Uncertain significance Single submitter
- APOO p.Tyr102Cys Uncertain significance Single submitter
- APOO p.Tyr174His Uncertain significance Single submitter
- APOO p.Val116Ala Uncertain significance Single submitter
- APOO p.Val35Met Conflicting Single submitter
- APOO p.Val45Phe Uncertain significance Single submitter
All APOO variants
Pathogenic 1
- p.Ile117Thr Single submitter Cognitive impairment and autistic features ⚠
Conflicting classifications of pathogenicity 1
- p.Val35Met Single submitter ⚠
Benign 2
- c.117+16T>C Multiple submitters
- p.Leu166Val Multiple submitters
Likely benign 3
- p.Gln49= Single submitter
- p.Ser15Cys No assertion criteria APOO-related disorder
- p.Ser162= No assertion criteria APOO-related disorder
Uncertain significance 25
- p.Ala12Gly Single submitter ⚠
- p.Asp98Glu Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Gly163Ala Single submitter ⚠
- p.Gly173Glu Single submitter ⚠
- p.Ile133Met Single submitter ⚠
- p.Leu136Ile Single submitter ⚠
- p.Lys26Glu Single submitter ⚠
- p.Lys36Asn Single submitter ⚠
- p.Lys51Glu Single submitter ⚠
- p.Met143Val Single submitter ⚠
- p.Phe19Ser Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Ser148Tyr Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr75Lys Single submitter ⚠
- p.Thr75Ser Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠
- p.Tyr174His Single submitter ⚠
- p.Val116Ala Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val45Phe Single submitter ⚠
- p.Val93Phe Single submitter ⚠
- p.Val9Leu Single submitter ⚠