CAPN13 — 128 ClinVar variants
All ClinVar germline CAPN13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
12 Likely benign · 116 Uncertain significance
Full CAPN13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN13 p.Ala326Val Uncertain significance Single submitter
- CAPN13 p.Ala460Gly Uncertain significance Single submitter
- CAPN13 p.Ala564Val Uncertain significance Single submitter
- CAPN13 p.Ala90Ser Uncertain significance Single submitter
- CAPN13 p.Arg129Gln Uncertain significance Single submitter
- CAPN13 p.Arg144His Uncertain significance Single submitter
- CAPN13 p.Arg158Cys Uncertain significance Single submitter
- CAPN13 p.Arg442Cys Uncertain significance Single submitter
- CAPN13 p.Arg491Ile Uncertain significance Single submitter
- CAPN13 p.Arg569His Uncertain significance Single submitter
- CAPN13 p.Arg56His Uncertain significance Single submitter
- CAPN13 p.Asn273Lys Uncertain significance Single submitter
- CAPN13 p.Asn360Ser Uncertain significance Single submitter
- CAPN13 p.Asn555Ser Uncertain significance Single submitter
- CAPN13 p.Asn647Asp Uncertain significance Single submitter
- CAPN13 p.Asp194Tyr Uncertain significance Single submitter
- CAPN13 p.Asp37Gly Uncertain significance Single submitter
- CAPN13 p.Cys133Tyr Uncertain significance Single submitter
- CAPN13 p.Gln160Arg Uncertain significance Single submitter
- CAPN13 p.Gln503Lys Uncertain significance Single submitter
- CAPN13 p.Glu345Asp Uncertain significance Single submitter
- CAPN13 p.Glu380Gln Uncertain significance Single submitter
- CAPN13 p.Glu528Gly Uncertain significance Single submitter
- CAPN13 p.Glu54Lys Uncertain significance Single submitter
- CAPN13 p.His120Tyr Uncertain significance Single submitter
- CAPN13 p.His344Tyr Uncertain significance Single submitter
- CAPN13 p.Ile505Thr Uncertain significance Single submitter
- CAPN13 p.Leu183Arg Uncertain significance Single submitter
- CAPN13 p.Leu57Phe Uncertain significance Single submitter
- CAPN13 p.Leu614Val Uncertain significance Single submitter
- CAPN13 p.Met379Ile Uncertain significance Single submitter
- CAPN13 p.Met447Ile Uncertain significance Single submitter
- CAPN13 p.Met660Thr Uncertain significance Single submitter
- CAPN13 p.Phe441Cys Uncertain significance Single submitter
- CAPN13 p.Phe75Ser Uncertain significance Single submitter
- CAPN13 p.Pro378Leu Uncertain significance Single submitter
- CAPN13 p.Pro423Thr Uncertain significance Single submitter
- CAPN13 p.Pro424Thr Uncertain significance Single submitter
- CAPN13 p.Pro533Ser Uncertain significance Single submitter
- CAPN13 p.Pro534Arg Uncertain significance Single submitter
- CAPN13 p.Ser101Phe Uncertain significance Single submitter
- CAPN13 p.Ser207Thr Uncertain significance Single submitter
- CAPN13 p.Ser429Leu Uncertain significance Single submitter
- CAPN13 p.Ser436Ile Uncertain significance Single submitter
- CAPN13 p.Ser452Arg Uncertain significance Single submitter
- CAPN13 p.Ser480Gly Uncertain significance Single submitter
- CAPN13 p.Ser480Thr Uncertain significance Single submitter
- CAPN13 p.Ser504Ile Uncertain significance Single submitter
- CAPN13 p.Ser622Ile Uncertain significance Single submitter
- CAPN13 p.Thr393Pro Uncertain significance Single submitter
- CAPN13 p.Trp62Cys Uncertain significance Single submitter
- CAPN13 p.Tyr456Cys Uncertain significance Single submitter
- CAPN13 p.Tyr619His Uncertain significance Single submitter
- CAPN13 p.Tyr656Ser Uncertain significance Single submitter
- CAPN13 p.Val356Leu Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- CAPN13 p.Ala172Ser Uncertain significance Single submitter
- CAPN13 p.Ala215Ser Uncertain significance Single submitter
- CAPN13 p.Ala2Val Uncertain significance Single submitter
- CAPN13 p.Ala510Pro Uncertain significance Single submitter
- CAPN13 p.Arg109Gly Uncertain significance Single submitter
- CAPN13 p.Arg129Trp Uncertain significance Single submitter
- CAPN13 p.Arg144Cys Uncertain significance Single submitter
- CAPN13 p.Arg144Pro Uncertain significance Single submitter
- CAPN13 p.Arg25Gln Uncertain significance Single submitter
- CAPN13 p.Arg300Trp Uncertain significance Single submitter
- CAPN13 p.Arg308Trp Uncertain significance Single submitter
- CAPN13 p.Arg417Trp Uncertain significance Single submitter
- CAPN13 p.Arg443Cys Likely benign Single submitter
- CAPN13 p.Arg443His Uncertain significance Single submitter
- CAPN13 p.Arg544His Uncertain significance Single submitter
- CAPN13 p.Arg609Gly Uncertain significance Single submitter
- CAPN13 p.Arg609His Uncertain significance Single submitter
- CAPN13 p.Arg646Cys Uncertain significance Single submitter
- CAPN13 p.Asn383Ser Uncertain significance Single submitter
- CAPN13 p.Asn59Ser Likely benign Single submitter
- CAPN13 p.Asp338Gly Uncertain significance Single submitter
- CAPN13 p.Asp44His Uncertain significance Single submitter
- CAPN13 p.Asp517His Uncertain significance Single submitter
- CAPN13 p.Gln132Leu Uncertain significance Single submitter
- CAPN13 p.Glu189Lys Uncertain significance Single submitter
- CAPN13 p.Glu281Ala Uncertain significance Single submitter
- CAPN13 p.Glu281Gly Uncertain significance Single submitter
- CAPN13 p.Glu281Lys Uncertain significance Single submitter
- CAPN13 p.Glu345Lys Uncertain significance Single submitter
- CAPN13 p.Glu562Gly Uncertain significance Single submitter
- CAPN13 p.Gly178Arg Uncertain significance Single submitter
- CAPN13 p.Gly32Arg Uncertain significance Single submitter
- CAPN13 p.Gly32Asp Uncertain significance Single submitter
- CAPN13 p.Gly381Ala Uncertain significance Single submitter
- CAPN13 p.Gly48Asp Uncertain significance Single submitter
- CAPN13 p.Gly624Ser Uncertain significance Single submitter
- CAPN13 p.Gly71Cys Uncertain significance Single submitter
- CAPN13 p.His450Leu Uncertain significance Single submitter
- CAPN13 p.His575Pro Uncertain significance Single submitter
- CAPN13 p.Ile76Leu Uncertain significance Single submitter
- CAPN13 p.Leu245Val Uncertain significance Single submitter
- CAPN13 p.Leu657Val Uncertain significance Single submitter
- CAPN13 p.Lys301Gln Uncertain significance Single submitter
- CAPN13 p.Met550Thr Uncertain significance Single submitter
- CAPN13 p.Met641Ile Uncertain significance Single submitter
- CAPN13 p.Phe371Leu Uncertain significance Single submitter
- CAPN13 p.Phe426Leu Uncertain significance Single submitter
- CAPN13 p.Phe601Leu Uncertain significance Single submitter
- CAPN13 p.Phe645Leu Uncertain significance Single submitter
- CAPN13 p.Ser247Arg Uncertain significance Single submitter
- CAPN13 p.Ser429Trp Uncertain significance Single submitter
- CAPN13 p.Ser486Asn Uncertain significance Single submitter
- CAPN13 p.Ser589Gly Uncertain significance Single submitter
- CAPN13 p.Ser590Leu Uncertain significance Single submitter
- CAPN13 p.Ser630Arg Uncertain significance Single submitter
- CAPN13 p.Thr519Pro Uncertain significance Single submitter
- CAPN13 p.Thr644Asn Uncertain significance Single submitter
- CAPN13 p.Val140Leu Uncertain significance Single submitter
- CAPN13 p.Val199Met Uncertain significance Single submitter
- CAPN13 p.Val213Gly Uncertain significance Single submitter
- CAPN13 p.Val246Gly Uncertain significance Single submitter
- CAPN13 p.Val386Met Uncertain significance Single submitter
- CAPN13 p.Val425Met Uncertain significance Single submitter
All CAPN13 variants
Likely benign 12
- p.Ala240Val Single submitter
- p.Arg156His Single submitter
- p.Arg33Gln Single submitter
- p.Arg353Lys Single submitter
- p.Arg417= Single submitter
- p.Arg443Cys Single submitter ⚠
- p.Asn59Ser Single submitter ⚠
- p.Asp407Asn Single submitter
- p.Glu279Lys Single submitter
- p.Glu332Gln Single submitter
- p.Met447Val Single submitter
- p.Thr34Met Single submitter
Uncertain significance 116
- p.Ala172Ser Single submitter ⚠
- p.Ala215Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala460Gly Single submitter ⚠
- p.Ala510Pro Single submitter ⚠
- p.Ala564Val Single submitter ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg129Gln Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg144Pro Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg308Trp Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg442Cys Single submitter ⚠
- p.Arg443His Single submitter ⚠
- p.Arg491Ile Single submitter ⚠
- p.Arg544His Single submitter ⚠
- p.Arg569His Single submitter ⚠
- p.Arg56His Single submitter ⚠
- p.Arg609Gly Single submitter ⚠
- p.Arg609His Single submitter ⚠
- p.Arg646Cys Single submitter ⚠
- p.Asn273Lys Single submitter ⚠
- p.Asn360Ser Single submitter ⚠
- p.Asn383Ser Single submitter ⚠
- p.Asn555Ser Single submitter ⚠
- p.Asn647Asp Single submitter ⚠
- p.Asp194Tyr Single submitter ⚠
- p.Asp338Gly Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Asp44His Single submitter ⚠
- p.Asp517His Single submitter ⚠
- p.Cys133Tyr Single submitter ⚠
- p.Gln132Leu Single submitter ⚠
- p.Gln160Arg Single submitter ⚠
- p.Gln503Lys Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu281Ala Single submitter ⚠
- p.Glu281Gly Single submitter ⚠
- p.Glu281Lys Single submitter ⚠
- p.Glu345Asp Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu380Gln Single submitter ⚠
- p.Glu528Gly Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu562Gly Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly32Asp Single submitter ⚠
- p.Gly381Ala Single submitter ⚠
- p.Gly48Asp Single submitter ⚠
- p.Gly624Ser Single submitter ⚠
- p.Gly71Cys Single submitter ⚠
- p.His120Tyr Single submitter ⚠
- p.His344Tyr Single submitter ⚠
- p.His450Leu Single submitter ⚠
- p.His575Pro Single submitter ⚠
- p.Ile505Thr Single submitter ⚠
- p.Ile76Leu Single submitter ⚠
- p.Leu183Arg Single submitter ⚠
- p.Leu245Val Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Leu614Val Single submitter ⚠
- p.Leu657Val Single submitter ⚠
- p.Lys301Gln Single submitter ⚠
- p.Met379Ile Single submitter ⚠
- p.Met447Ile Single submitter ⚠
- p.Met550Thr Single submitter ⚠
- p.Met641Ile Single submitter ⚠
- p.Met660Thr Single submitter ⚠
- p.Phe371Leu Single submitter ⚠
- p.Phe426Leu Single submitter ⚠
- p.Phe441Cys Single submitter ⚠
- p.Phe601Leu Single submitter ⚠
- p.Phe645Leu Single submitter ⚠
- p.Phe75Ser Single submitter ⚠
- p.Pro378Leu Single submitter ⚠
- p.Pro423Thr Single submitter ⚠
- p.Pro424Thr Single submitter ⚠
- p.Pro533Ser Single submitter ⚠
- p.Pro534Arg Single submitter ⚠
- p.Ser101Phe Single submitter ⚠
- p.Ser207Thr Single submitter ⚠
- p.Ser247Arg Single submitter ⚠
- p.Ser429Leu Single submitter ⚠
- p.Ser429Trp Single submitter ⚠
- p.Ser436Ile Single submitter ⚠
- p.Ser452Arg Single submitter ⚠
- p.Ser480Gly Single submitter ⚠
- p.Ser480Thr Single submitter ⚠
- p.Ser486Asn Single submitter ⚠
- p.Ser504Ile Single submitter ⚠
- p.Ser589Gly Single submitter ⚠
- p.Ser590Leu Single submitter ⚠
- p.Ser622Ile Single submitter ⚠
- p.Ser630Arg Single submitter ⚠
- p.Thr393Pro Single submitter ⚠
- p.Thr519Pro Single submitter ⚠
- p.Thr644Asn Single submitter ⚠
- p.Trp62Cys Single submitter ⚠
- p.Tyr456Cys Single submitter ⚠
- p.Tyr619His Single submitter ⚠
- p.Tyr656Ser Single submitter ⚠
- p.Val140Leu Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val213Gly Single submitter ⚠
- p.Val246Gly Single submitter ⚠
- p.Val356Leu Single submitter ⚠
- p.Val386Met Single submitter ⚠
- p.Val425Met Single submitter ⚠