APPBP2 — 25 ClinVar variants
All ClinVar germline APPBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
25 Uncertain significance
Full APPBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APPBP2 p.Arg27His Uncertain significance Single submitter
- APPBP2 p.Arg545Gln Uncertain significance Single submitter
- APPBP2 p.Asp154Asn Uncertain significance Single submitter
- APPBP2 p.Gln565His Uncertain significance Single submitter
- APPBP2 p.Ile527Thr Uncertain significance Single submitter
- APPBP2 p.Leu157Phe Uncertain significance Single submitter
- APPBP2 p.Met156Ile Uncertain significance Single submitter
- APPBP2 p.Met233Val Uncertain significance Single submitter
- APPBP2 p.Phe424Cys Uncertain significance Single submitter
- APPBP2 p.Pro241Arg Uncertain significance Single submitter
- APPBP2 p.Tyr179His Uncertain significance Single submitter
- APPBP2 p.Val163Ile Uncertain significance Single submitter
- APPBP2 p.Val560Ile Uncertain significance Single submitter
- APPBP2 p.Val571Leu Uncertain significance Single submitter
- APPBP2 p.Val580Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- APPBP2 p.Ala272Gly Uncertain significance Single submitter
- APPBP2 p.Arg161Cys Uncertain significance Single submitter
- APPBP2 p.Arg71Thr Uncertain significance Single submitter
- APPBP2 p.Asn24Ser Uncertain significance Single submitter
- APPBP2 p.Gln487His Uncertain significance Single submitter
- APPBP2 p.His77Arg Uncertain significance Single submitter
- APPBP2 p.Ile363Val Uncertain significance Single submitter
- APPBP2 p.Leu147Phe Uncertain significance Single submitter
- APPBP2 p.Ser102Gly Uncertain significance Single submitter
- APPBP2 p.Ser563Arg Uncertain significance Single submitter
All APPBP2 variants
Uncertain significance 25
- p.Ala272Gly Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg27His Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg71Thr Single submitter ⚠
- p.Asn24Ser Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Gln487His Single submitter ⚠
- p.Gln565His Single submitter ⚠
- p.His77Arg Single submitter ⚠
- p.Ile363Val Single submitter ⚠
- p.Ile527Thr Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Leu157Phe Single submitter ⚠
- p.Met156Ile Single submitter ⚠
- p.Met233Val Single submitter ⚠
- p.Phe424Cys Single submitter ⚠
- p.Pro241Arg Single submitter ⚠
- p.Ser102Gly Single submitter ⚠
- p.Ser563Arg Single submitter ⚠
- p.Tyr179His Single submitter ⚠
- p.Val163Ile Single submitter ⚠
- p.Val560Ile Single submitter ⚠
- p.Val571Leu Single submitter ⚠
- p.Val580Ala Single submitter ⚠