APLN — 17 ClinVar variants
All ClinVar germline APLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
5 Benign · 1 Likely benign · 11 Uncertain significance
Full APLN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APLN p.Arg49Trp Uncertain significance Single submitter
- APLN p.Arg63His Uncertain significance Single submitter
- APLN p.Arg68Cys Uncertain significance Single submitter
- APLN p.Asp30Gly Uncertain significance Single submitter
- APLN p.Gln44Arg Uncertain significance Single submitter
- APLN p.Gly37Ser Uncertain significance Single submitter
- APLN p.Trp55Arg Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All APLN variants
Benign 5
- c.67+151A>G Multiple submitters
- c.-107T>C Multiple submitters
- c.-314T>C Multiple submitters
- c.*5+62C>T Multiple submitters
- c.*5+186G>C Single submitter
Likely benign 1
- p.Pro29Ser Single submitter
Uncertain significance 11
- p.Arg49Trp Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg59Trp Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Asp30Gly Single submitter ⚠
- p.Gln44Arg Single submitter ⚠
- p.Gly37Ser Single submitter ⚠
- p.His71Pro Single submitter ⚠
- p.Ser16Tyr Single submitter ⚠
- p.Trp55Arg Single submitter ⚠