CAPNS2 — 33 ClinVar variants
All ClinVar germline CAPNS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
33 Uncertain significance
Full CAPNS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPNS2 p.Ala18Val Uncertain significance Single submitter
- CAPNS2 p.Arg196Trp Uncertain significance Single submitter
- CAPNS2 p.Arg215His Uncertain significance Single submitter
- CAPNS2 p.Arg221Leu Uncertain significance Single submitter
- CAPNS2 p.Asp132Gly Uncertain significance Single submitter
- CAPNS2 p.Gln235Arg Uncertain significance Single submitter
- CAPNS2 p.His66Arg Uncertain significance Single submitter
- CAPNS2 p.Leu139Pro Uncertain significance Single submitter
- CAPNS2 p.Phe183Val Uncertain significance Single submitter
- CAPNS2 p.Thr57Ser Uncertain significance Single submitter
- CAPNS2 p.Tyr197Cys Uncertain significance Single submitter
- CAPNS2 p.Val41Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CAPNS2 p.Arg125Gln Uncertain significance Single submitter
- CAPNS2 p.Arg221His Uncertain significance Single submitter
- CAPNS2 p.Arg82Trp Uncertain significance Single submitter
- CAPNS2 p.Asp231Val Uncertain significance Single submitter
- CAPNS2 p.Glu77Gln Uncertain significance Single submitter
- CAPNS2 p.Gly10Arg Uncertain significance Single submitter
- CAPNS2 p.Gly14Asp Uncertain significance Single submitter
- CAPNS2 p.Gly39Arg Uncertain significance Single submitter
- CAPNS2 p.His111Tyr Uncertain significance Single submitter
- CAPNS2 p.Ile151Met Uncertain significance Single submitter
- CAPNS2 p.Met246Val Uncertain significance Single submitter
- CAPNS2 p.Phe141Tyr Uncertain significance Single submitter
- CAPNS2 p.Phe2Ile Uncertain significance Single submitter
- CAPNS2 p.Pro58Leu Uncertain significance Single submitter
- CAPNS2 p.Pro60Leu Uncertain significance Single submitter
- CAPNS2 p.Pro60Ser Uncertain significance Single submitter
- CAPNS2 p.Pro62Leu Uncertain significance Single submitter
- CAPNS2 p.Ser109Phe Uncertain significance Single submitter
- CAPNS2 p.Ser133Gly Uncertain significance Single submitter
- CAPNS2 p.Ser168Phe Uncertain significance Single submitter
- CAPNS2 p.Thr57Ile Uncertain significance Single submitter
All CAPNS2 variants
Uncertain significance 33
- p.Ala18Val Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg221Leu Single submitter ⚠
- p.Arg82Trp Single submitter ⚠
- p.Asp132Gly Single submitter ⚠
- p.Asp231Val Single submitter ⚠
- p.Gln235Arg Single submitter ⚠
- p.Glu77Gln Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.His111Tyr Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.Ile151Met Single submitter ⚠
- p.Leu139Pro Single submitter ⚠
- p.Met246Val Single submitter ⚠
- p.Phe141Tyr Single submitter ⚠
- p.Phe183Val Single submitter ⚠
- p.Phe2Ile Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro60Leu Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Ser109Phe Single submitter ⚠
- p.Ser133Gly Single submitter ⚠
- p.Ser168Phe Single submitter ⚠
- p.Thr57Ile Single submitter ⚠
- p.Thr57Ser Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Val41Ile Single submitter ⚠