CAPN7 — 94 ClinVar variants
All ClinVar germline CAPN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
7 Likely benign · 87 Uncertain significance
Full CAPN7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN7 p.Ala10Asp Uncertain significance Single submitter
- CAPN7 p.Ala10Ser Uncertain significance Single submitter
- CAPN7 p.Ala149Val Uncertain significance Single submitter
- CAPN7 p.Ala29Val Uncertain significance Single submitter
- CAPN7 p.Ala37Thr Uncertain significance Single submitter
- CAPN7 p.Ala39Asp Uncertain significance Single submitter
- CAPN7 p.Ala459Ser Uncertain significance Single submitter
- CAPN7 p.Ala583Thr Uncertain significance Single submitter
- CAPN7 p.Arg141Pro Uncertain significance Single submitter
- CAPN7 p.Arg234Cys Uncertain significance Single submitter
- CAPN7 p.Arg343Lys Uncertain significance Single submitter
- CAPN7 p.Arg484Cys Uncertain significance Single submitter
- CAPN7 p.Arg488Lys Uncertain significance Single submitter
- CAPN7 p.Arg510Gln Uncertain significance Single submitter
- CAPN7 p.Arg63Thr Uncertain significance Single submitter
- CAPN7 p.Arg670Gln Uncertain significance Single submitter
- CAPN7 p.Arg670Trp Uncertain significance Single submitter
- CAPN7 p.Arg732Gly Uncertain significance Single submitter
- CAPN7 p.Arg89Gly Uncertain significance Single submitter
- CAPN7 p.Asn339Ser Uncertain significance Single submitter
- CAPN7 p.Asn569Ser Uncertain significance Single submitter
- CAPN7 p.Asp349Glu Uncertain significance Single submitter
- CAPN7 p.Asp77Gly Uncertain significance Single submitter
- CAPN7 p.Gln12Arg Uncertain significance Single submitter
- CAPN7 p.Gln200Arg Uncertain significance Single submitter
- CAPN7 p.Gln54Glu Uncertain significance Single submitter
- CAPN7 p.Glu100Ala Uncertain significance Single submitter
- CAPN7 p.Glu111Asp Uncertain significance Single submitter
- CAPN7 p.Glu207Asp Uncertain significance Single submitter
- CAPN7 p.Glu7Gln Uncertain significance Single submitter
- CAPN7 p.Glu88Gly Uncertain significance Single submitter
- CAPN7 p.Gly487Arg Uncertain significance Single submitter
- CAPN7 p.Gly541Ser Uncertain significance Single submitter
- CAPN7 p.Gly703Arg Uncertain significance Single submitter
- CAPN7 p.His592Arg Uncertain significance Single submitter
- CAPN7 p.His637Arg Uncertain significance Single submitter
- CAPN7 p.His68Arg Uncertain significance Single submitter
- CAPN7 p.Ile286Val Uncertain significance Single submitter
- CAPN7 p.Ile314Val Uncertain significance Single submitter
- CAPN7 p.Ile593Thr Uncertain significance Single submitter
- CAPN7 p.Ile804Ser Uncertain significance Single submitter
- CAPN7 p.Lys381Arg Uncertain significance Single submitter
- CAPN7 p.Lys419Asn Uncertain significance Single submitter
- CAPN7 p.Lys556Gln Uncertain significance Single submitter
- CAPN7 p.Lys695Arg Uncertain significance Single submitter
- CAPN7 p.Lys74Gln Uncertain significance Single submitter
- CAPN7 p.Met239Leu Uncertain significance Single submitter
- CAPN7 p.Met239Val Uncertain significance Single submitter
- CAPN7 p.Met380Val Uncertain significance Single submitter
- CAPN7 p.Pro194Ser Uncertain significance Single submitter
- CAPN7 p.Ser165Gly Uncertain significance Single submitter
- CAPN7 p.Ser565Gly Uncertain significance Single submitter
- CAPN7 p.Thr438Ser Uncertain significance Single submitter
- CAPN7 p.Thr748Ser Uncertain significance Single submitter
- CAPN7 p.Tyr125His Uncertain significance Single submitter
- CAPN7 p.Tyr223Cys Uncertain significance Single submitter
- CAPN7 p.Tyr60Phe Uncertain significance Single submitter
- CAPN7 p.Val609Ile Uncertain significance Single submitter
- CAPN7 p.Val739Ala Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CAPN7 p.Asn421Ile Uncertain significance Single submitter
- CAPN7 p.Asn783Ser Uncertain significance Single submitter
- CAPN7 p.Asp387Asn Uncertain significance Single submitter
- CAPN7 p.Asp598Asn Uncertain significance Single submitter
- CAPN7 p.Ile110Thr Uncertain significance Single submitter
- CAPN7 p.Ile110Val Likely benign Single submitter
- CAPN7 p.Ile221Met Uncertain significance Single submitter
- CAPN7 p.Ile593Leu Uncertain significance Single submitter
- CAPN7 p.Ile777Thr Uncertain significance Single submitter
- CAPN7 p.Leu61Val Uncertain significance Single submitter
- CAPN7 p.Lys308Arg Uncertain significance Single submitter
- CAPN7 p.Phe468Leu Uncertain significance Single submitter
- CAPN7 p.Phe769Leu Uncertain significance Single submitter
- CAPN7 p.Pro456Ser Uncertain significance Single submitter
- CAPN7 p.Pro499Thr Uncertain significance Single submitter
- CAPN7 p.Pro752Ser Uncertain significance Single submitter
- CAPN7 p.Pro806Ser Uncertain significance Single submitter
- CAPN7 p.Ser162Arg Likely benign Single submitter
- CAPN7 p.Ser27Cys Uncertain significance Single submitter
- CAPN7 p.Ser523Tyr Uncertain significance Single submitter
- CAPN7 p.Ser697Ile Uncertain significance Single submitter
- CAPN7 p.Ser738Gly Uncertain significance Single submitter
- CAPN7 p.Thr498Ala Uncertain significance Single submitter
- CAPN7 p.Thr651Asn Uncertain significance Single submitter
- CAPN7 p.Thr678Ile Uncertain significance Single submitter
- CAPN7 p.Tyr275Cys Uncertain significance Single submitter
- CAPN7 p.Tyr686Cys Uncertain significance Single submitter
- CAPN7 p.Val334Ile Uncertain significance Single submitter
- CAPN7 p.Val353Ala Uncertain significance Single submitter
All CAPN7 variants
Likely benign 7
- p.Ala181Thr Single submitter
- p.Asn228Ser Single submitter
- p.Gly313Ser Single submitter
- p.His458= Single submitter
- p.Ile110Val Single submitter ⚠
- p.Leu749Val Single submitter
- p.Ser162Arg Single submitter ⚠
Uncertain significance 87
- c.2073+1G>T Single submitter
- p.Ala10Asp Single submitter ⚠
- p.Ala10Ser Single submitter ⚠
- p.Ala149Val Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala39Asp Single submitter ⚠
- p.Ala459Ser Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Arg141Pro Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg343Lys Single submitter ⚠
- p.Arg484Cys Single submitter ⚠
- p.Arg488Lys Single submitter ⚠
- p.Arg510Gln Single submitter ⚠
- p.Arg63Thr Single submitter ⚠
- p.Arg670Gln Single submitter ⚠
- p.Arg670Trp Single submitter ⚠
- p.Arg732Gly Single submitter ⚠
- p.Arg89Gly Single submitter ⚠
- p.Asn339Ser Single submitter ⚠
- p.Asn421Ile Single submitter ⚠
- p.Asn569Ser Single submitter ⚠
- p.Asn783Ser Single submitter ⚠
- p.Asp349Glu Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp598Asn Single submitter ⚠
- p.Asp77Gly Single submitter ⚠
- p.Gln12Arg Single submitter ⚠
- p.Gln200Arg Single submitter ⚠
- p.Gln54Glu Single submitter ⚠
- p.Glu100Ala Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu207Asp Single submitter ⚠
- p.Glu7Gln Single submitter ⚠
- p.Glu88Gly Single submitter ⚠
- p.Gly487Arg Single submitter ⚠
- p.Gly541Ser Single submitter ⚠
- p.Gly703Arg Single submitter ⚠
- p.His592Arg Single submitter ⚠
- p.His637Arg Single submitter ⚠
- p.His68Arg Single submitter ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile221Met Single submitter ⚠
- p.Ile286Val Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile593Leu Single submitter ⚠
- p.Ile593Thr Single submitter ⚠
- p.Ile777Thr Single submitter ⚠
- p.Ile804Ser Single submitter ⚠
- p.Leu61Val Single submitter ⚠
- p.Lys308Arg Single submitter ⚠
- p.Lys381Arg Single submitter ⚠
- p.Lys419Asn Single submitter ⚠
- p.Lys556Gln Single submitter ⚠
- p.Lys695Arg Single submitter ⚠
- p.Lys74Gln Single submitter ⚠
- p.Met239Leu Single submitter ⚠
- p.Met239Val Single submitter ⚠
- p.Met380Val Single submitter ⚠
- p.Phe468Leu Single submitter ⚠
- p.Phe769Leu Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro456Ser Single submitter ⚠
- p.Pro499Thr Single submitter ⚠
- p.Pro752Ser Single submitter ⚠
- p.Pro806Ser Single submitter ⚠
- p.Ser165Gly Single submitter ⚠
- p.Ser27Cys Single submitter ⚠
- p.Ser523Tyr Single submitter ⚠
- p.Ser565Gly Single submitter ⚠
- p.Ser697Ile Single submitter ⚠
- p.Ser738Gly Single submitter ⚠
- p.Thr438Ser Single submitter ⚠
- p.Thr498Ala Single submitter ⚠
- p.Thr651Asn Single submitter ⚠
- p.Thr678Ile Single submitter ⚠
- p.Thr748Ser Single submitter ⚠
- p.Tyr125His Single submitter ⚠
- p.Tyr223Cys Single submitter ⚠
- p.Tyr275Cys Single submitter ⚠
- p.Tyr60Phe Single submitter ⚠
- p.Tyr686Cys Single submitter ⚠
- p.Val334Ile Single submitter ⚠
- p.Val353Ala Single submitter ⚠
- p.Val609Ile Single submitter ⚠
- p.Val739Ala Single submitter ⚠