CAPNS1 — 39 ClinVar variants
All ClinVar germline CAPNS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Likely benign · 34 Uncertain significance
Full CAPNS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPNS1 p.Ala201Gly Uncertain significance Single submitter
- CAPNS1 p.Ala58Asp Uncertain significance Single submitter
- CAPNS1 p.Arg102Gln Uncertain significance Single submitter
- CAPNS1 p.Arg102Trp Uncertain significance Single submitter
- CAPNS1 p.Arg145Cys Uncertain significance Single submitter
- CAPNS1 p.Gly110Ala Uncertain significance Single submitter
- CAPNS1 p.Gly138Asp Uncertain significance Single submitter
- CAPNS1 p.Gly63Val Uncertain significance Single submitter
- CAPNS1 p.Ile123Val Uncertain significance Single submitter
- CAPNS1 p.Ile189Phe Uncertain significance Single submitter
- CAPNS1 p.Lys248Arg Uncertain significance Single submitter
- CAPNS1 p.Met113Thr Uncertain significance Single submitter
- CAPNS1 p.Met212Val Uncertain significance Single submitter
- CAPNS1 p.Ser67Gly Uncertain significance Single submitter
- CAPNS1 p.Ser70Gly Uncertain significance Single submitter
- CAPNS1 p.Thr251Ser Uncertain significance Single submitter
- CAPNS1 p.Tyr76Cys Uncertain significance Single submitter
- CAPNS1 p.Tyr87Ser Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CAPNS1 p.Ala238Thr Uncertain significance Single submitter
- CAPNS1 p.Asn211Asp Uncertain significance Single submitter
- CAPNS1 p.Gly11Cys Uncertain significance Single submitter
- CAPNS1 p.Gly14Ser Uncertain significance Single submitter
- CAPNS1 p.Gly16Ala Uncertain significance Single submitter
- CAPNS1 p.Gly22Val Uncertain significance Single submitter
- CAPNS1 p.Gly24Asp Uncertain significance Single submitter
- CAPNS1 p.Gly30Glu Uncertain significance Single submitter
- CAPNS1 p.Gly54Cys Uncertain significance Single submitter
- CAPNS1 p.Gly55Asp Uncertain significance Single submitter
- CAPNS1 p.Leu209Phe Uncertain significance Single submitter
- CAPNS1 p.Leu29Ile Uncertain significance Single submitter
- CAPNS1 p.Leu62Pro Uncertain significance Single submitter
- CAPNS1 p.Phe181Leu Uncertain significance Single submitter
- CAPNS1 p.Pro81Leu Uncertain significance Single submitter
- CAPNS1 p.Tyr210Cys Uncertain significance Single submitter
All CAPNS1 variants
Pathogenic 1
- c.210-2A>G No assertion criteria pulmonary hypertension, primary, 6
Likely pathogenic 2
- c.605-2A>C Single submitter pulmonary hypertension, primary, 6
- c.721+1G>A Single submitter pulmonary hypertension, primary, 6
Uncertain significance 34
- p.Ala201Gly Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala58Asp Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg102Trp Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Asn211Asp Single submitter ⚠
- p.Gly110Ala Single submitter ⚠
- p.Gly11Cys Single submitter ⚠
- p.Gly138Asp Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly16Ala Single submitter ⚠
- p.Gly22Val Single submitter ⚠
- p.Gly24Asp Single submitter ⚠
- p.Gly30Glu Single submitter ⚠
- p.Gly54Cys Single submitter ⚠
- p.Gly55Asp Single submitter ⚠
- p.Gly63Val Single submitter ⚠
- p.Ile123Val Single submitter ⚠
- p.Ile189Phe Single submitter ⚠
- p.Leu209Phe Single submitter ⚠
- p.Leu29Ile Single submitter ⚠
- p.Leu62Pro Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Met113Thr Single submitter ⚠
- p.Met212Val Single submitter ⚠
- p.Phe181Leu Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser67Gly Single submitter ⚠
- p.Ser70Gly Single submitter ⚠
- p.Thr251Ser Single submitter ⚠
- p.Tyr210Cys Single submitter ⚠
- p.Tyr76Cys Single submitter ⚠
- p.Tyr87Ser Single submitter ⚠