CAPN9 — 107 ClinVar variants
All ClinVar germline CAPN9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
7 Likely benign · 100 Uncertain significance
Full CAPN9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN9 p.Ala345Val Uncertain significance Single submitter
- CAPN9 p.Ala605Thr Uncertain significance Single submitter
- CAPN9 p.Arg368Cys Uncertain significance Single submitter
- CAPN9 p.Arg368His Uncertain significance Single submitter
- CAPN9 p.Arg368Leu Uncertain significance Single submitter
- CAPN9 p.Arg438Ser Uncertain significance Single submitter
- CAPN9 p.Arg445Gly Uncertain significance Single submitter
- CAPN9 p.Arg453Lys Uncertain significance Single submitter
- CAPN9 p.Arg524Pro Uncertain significance Single submitter
- CAPN9 p.Arg657Gly Uncertain significance Single submitter
- CAPN9 p.Arg69Gln Uncertain significance Single submitter
- CAPN9 p.Arg6Gln Uncertain significance Single submitter
- CAPN9 p.Arg6Leu Uncertain significance Single submitter
- CAPN9 p.Asn499Ser Uncertain significance Single submitter
- CAPN9 p.Asp147Asn Uncertain significance Single submitter
- CAPN9 p.Asp147Tyr Uncertain significance Single submitter
- CAPN9 p.Asp18Asn Uncertain significance Single submitter
- CAPN9 p.Asp291Asn Uncertain significance Single submitter
- CAPN9 p.Asp329Asn Uncertain significance Single submitter
- CAPN9 p.Asp584Asn Uncertain significance Single submitter
- CAPN9 p.Asp604Glu Uncertain significance Single submitter
- CAPN9 p.Asp96Glu Uncertain significance Single submitter
- CAPN9 p.Cys97Gly Uncertain significance Single submitter
- CAPN9 p.Gln110His Uncertain significance Single submitter
- CAPN9 p.Gln402Arg Uncertain significance Single submitter
- CAPN9 p.Glu218Lys Uncertain significance Single submitter
- CAPN9 p.Glu392Lys Uncertain significance Single submitter
- CAPN9 p.Glu59Asp Uncertain significance Single submitter
- CAPN9 p.Gly126Ser Uncertain significance Single submitter
- CAPN9 p.Gly95Glu Uncertain significance Single submitter
- CAPN9 p.His165Asp Uncertain significance Single submitter
- CAPN9 p.His165Gln Uncertain significance Single submitter
- CAPN9 p.His254Arg Uncertain significance Single submitter
- CAPN9 p.His354Asp Uncertain significance Single submitter
- CAPN9 p.Ile146Val Uncertain significance Single submitter
- CAPN9 p.Ile502Val Uncertain significance Single submitter
- CAPN9 p.Ile89Met Uncertain significance Single submitter
- CAPN9 p.Leu106Phe Uncertain significance Single submitter
- CAPN9 p.Leu400Pro Uncertain significance Single submitter
- CAPN9 p.Leu542Pro Uncertain significance Single submitter
- CAPN9 p.Lys68Thr Uncertain significance Single submitter
- CAPN9 p.Met32Ile Uncertain significance Single submitter
- CAPN9 p.Met611Thr Uncertain significance Single submitter
- CAPN9 p.Phe168Ile Uncertain significance Single submitter
- CAPN9 p.Phe411Leu Uncertain significance Single submitter
- CAPN9 p.Phe43Cys Uncertain significance Single submitter
- CAPN9 p.Phe527Leu Uncertain significance Single submitter
- CAPN9 p.Pro16Leu Uncertain significance Single submitter
- CAPN9 p.Pro279Ser Uncertain significance Single submitter
- CAPN9 p.Ser442Phe Uncertain significance Single submitter
- CAPN9 p.Thr363Met Uncertain significance Single submitter
- CAPN9 p.Trp98Arg Uncertain significance Single submitter
- CAPN9 p.Val656Ile Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- CAPN9 p.Ala255Thr Uncertain significance Single submitter
- CAPN9 p.Ala525Asp Uncertain significance Single submitter
- CAPN9 p.Ala531Thr Uncertain significance Single submitter
- CAPN9 p.Arg115Gly Uncertain significance Single submitter
- CAPN9 p.Arg149His Uncertain significance Single submitter
- CAPN9 p.Arg245Trp Uncertain significance Single submitter
- CAPN9 p.Arg297Cys Uncertain significance Single submitter
- CAPN9 p.Arg524Gln Uncertain significance Single submitter
- CAPN9 p.Arg524Trp Uncertain significance Single submitter
- CAPN9 p.Arg617Gln Uncertain significance Single submitter
- CAPN9 p.Arg657Gln Uncertain significance Single submitter
- CAPN9 p.Arg6Trp Uncertain significance Single submitter
- CAPN9 p.Asn76His Uncertain significance Single submitter
- CAPN9 p.Asp313His Uncertain significance Single submitter
- CAPN9 p.Asp495His Uncertain significance Single submitter
- CAPN9 p.Asp555His Uncertain significance Single submitter
- CAPN9 p.Asp555Val Uncertain significance Single submitter
- CAPN9 p.Asp649Asn Uncertain significance Single submitter
- CAPN9 p.Glu386Asp Uncertain significance Single submitter
- CAPN9 p.Glu520Lys Uncertain significance Single submitter
- CAPN9 p.Glu93Val Uncertain significance Single submitter
- CAPN9 p.Gly227Cys Uncertain significance Single submitter
- CAPN9 p.Gly231Cys Uncertain significance Single submitter
- CAPN9 p.Gly577Ser Uncertain significance Single submitter
- CAPN9 p.His138Gln Uncertain significance Single submitter
- CAPN9 p.His165Tyr Uncertain significance Single submitter
- CAPN9 p.Ile130Leu Uncertain significance Single submitter
- CAPN9 p.Ile130Met Uncertain significance Single submitter
- CAPN9 p.Ile63Asn Uncertain significance Single submitter
- CAPN9 p.Leu108Phe Uncertain significance Single submitter
- CAPN9 p.Leu336Phe Uncertain significance Single submitter
- CAPN9 p.Leu620Val Uncertain significance Single submitter
- CAPN9 p.Met573Val Uncertain significance Single submitter
- CAPN9 p.Phe65Ser Uncertain significance Single submitter
- CAPN9 p.Pro463Thr Uncertain significance Single submitter
- CAPN9 p.Thr107Met Uncertain significance Single submitter
- CAPN9 p.Thr236Asn Uncertain significance Single submitter
- CAPN9 p.Thr246Met Uncertain significance Single submitter
- CAPN9 p.Thr613Ile Uncertain significance Single submitter
- CAPN9 p.Thr87Ile Uncertain significance Single submitter
- CAPN9 p.Tyr544Cys Uncertain significance Single submitter
- CAPN9 p.Tyr57Asp Uncertain significance Single submitter
- CAPN9 p.Tyr639Cys Uncertain significance Single submitter
- CAPN9 p.Val331Ala Uncertain significance Single submitter
- CAPN9 p.Val398Ala Uncertain significance Single submitter
- CAPN9 p.Val74Met Uncertain significance Single submitter
All CAPN9 variants
Likely benign 7
- p.Ala101= Multiple submitters
- p.Arg277Trp Single submitter
- p.Arg522Gln Single submitter
- p.Arg602Gln Single submitter
- p.Ile130= Single submitter
- p.Tyr5His Single submitter
- p.Val415Met Single submitter
Uncertain significance 100
- c.1657+2T>G Single submitter
- p.Ala255Thr Single submitter ⚠
- p.Ala345Val Single submitter ⚠
- p.Ala525Asp Single submitter ⚠
- p.Ala531Thr Single submitter ⚠
- p.Ala605Thr Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg245Trp Single submitter ⚠
- p.Arg297Cys Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg368Leu Single submitter ⚠
- p.Arg438Ser Single submitter ⚠
- p.Arg445Gly Single submitter ⚠
- p.Arg453Lys Single submitter ⚠
- p.Arg524Gln Single submitter ⚠
- p.Arg524Pro Single submitter ⚠
- p.Arg524Trp Single submitter ⚠
- p.Arg617Gln Single submitter ⚠
- p.Arg657Gln Single submitter ⚠
- p.Arg657Gly Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg6Leu Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn499Ser Single submitter ⚠
- p.Asn76His Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp147Tyr Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp291Asn Single submitter ⚠
- p.Asp313His Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp495His Single submitter ⚠
- p.Asp555His Single submitter ⚠
- p.Asp555Val Single submitter ⚠
- p.Asp584Asn Single submitter ⚠
- p.Asp604Glu Single submitter ⚠
- p.Asp649Asn Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Cys97Gly Single submitter ⚠
- p.Gln110His Single submitter ⚠
- p.Gln402Arg Single submitter ⚠
- p.Glu218Lys Single submitter ⚠
- p.Glu386Asp Single submitter ⚠
- p.Glu392Lys Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Glu59Asp Single submitter ⚠
- p.Glu93Val Single submitter ⚠
- p.Gly126Ser Single submitter ⚠
- p.Gly227Cys Single submitter ⚠
- p.Gly231Cys Single submitter ⚠
- p.Gly577Ser Single submitter ⚠
- p.Gly95Glu Single submitter ⚠
- p.His138Gln Single submitter ⚠
- p.His165Asp Single submitter ⚠
- p.His165Gln Single submitter ⚠
- p.His165Tyr Single submitter ⚠
- p.His254Arg Single submitter ⚠
- p.His354Asp Single submitter ⚠
- p.Ile130Leu Single submitter ⚠
- p.Ile130Met Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile502Val Single submitter ⚠
- p.Ile63Asn Single submitter ⚠
- p.Ile89Met Single submitter ⚠
- p.Leu106Phe Single submitter ⚠
- p.Leu108Phe Single submitter ⚠
- p.Leu336Phe Single submitter ⚠
- p.Leu400Pro Single submitter ⚠
- p.Leu542Pro Single submitter ⚠
- p.Leu620Val Single submitter ⚠
- p.Lys68Thr Single submitter ⚠
- p.Met32Ile Single submitter ⚠
- p.Met573Val Single submitter ⚠
- p.Met611Thr Single submitter ⚠
- p.Phe168Ile Single submitter ⚠
- p.Phe411Leu Single submitter ⚠
- p.Phe43Cys Single submitter ⚠
- p.Phe527Leu Single submitter ⚠
- p.Phe65Ser Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro463Thr Single submitter ⚠
- p.Ser442Phe Single submitter ⚠
- p.Thr107Met Single submitter ⚠
- p.Thr236Asn Single submitter ⚠
- p.Thr246Met Single submitter ⚠
- p.Thr363Met Single submitter ⚠
- p.Thr613Ile Single submitter ⚠
- p.Thr87Ile Single submitter ⚠
- p.Trp98Arg Single submitter ⚠
- p.Tyr544Cys Single submitter ⚠
- p.Tyr57Asp Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Val331Ala Single submitter ⚠
- p.Val398Ala Single submitter ⚠
- p.Val656Ile Single submitter ⚠
- p.Val74Met Single submitter ⚠