CAPN2 — 129 ClinVar variants
All ClinVar germline CAPN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →
4 Benign · 4 Likely benign · 121 Uncertain significance
Full CAPN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 123
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 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN2 p.Ala101Pro Uncertain significance Single submitter
- CAPN2 p.Ala371Thr Uncertain significance Single submitter
- CAPN2 p.Ala83Thr Uncertain significance Single submitter
- CAPN2 p.Ala92Val Uncertain significance Single submitter
- CAPN2 p.Arg12Pro Uncertain significance Single submitter
- CAPN2 p.Arg283Pro Uncertain significance Single submitter
- CAPN2 p.Arg285Gln Uncertain significance Single submitter
- CAPN2 p.Arg416Gln Uncertain significance Single submitter
- CAPN2 p.Arg417Gln Uncertain significance Single submitter
- CAPN2 p.Arg469Gln Uncertain significance Single submitter
- CAPN2 p.Arg469Trp Uncertain significance Single submitter
- CAPN2 p.Arg474Cys Uncertain significance Single submitter
- CAPN2 p.Arg612Gln Uncertain significance Single submitter
- CAPN2 p.Arg618Gly Uncertain significance Single submitter
- CAPN2 p.Arg628Gln Uncertain significance Single submitter
- CAPN2 p.Arg664Gln Uncertain significance Single submitter
- CAPN2 p.Arg668Gln Uncertain significance Single submitter
- CAPN2 p.Arg668Trp Uncertain significance Single submitter
- CAPN2 p.Arg94His Uncertain significance Single submitter
- CAPN2 p.Asn300Lys Uncertain significance Single submitter
- CAPN2 p.Asn519Ser Uncertain significance Single submitter
- CAPN2 p.Asp299Glu Uncertain significance Single submitter
- CAPN2 p.Asp425Val Uncertain significance Single submitter
- CAPN2 p.Asp524Asn Uncertain significance Single submitter
- CAPN2 p.Asp585His Uncertain significance Single submitter
- CAPN2 p.Asp615Asn Uncertain significance Single submitter
- CAPN2 p.Asp658His Uncertain significance Single submitter
- CAPN2 p.Asp680Gly Uncertain significance Single submitter
- CAPN2 p.Cys405Ser Uncertain significance Single submitter
- CAPN2 p.Gln443Arg Uncertain significance Single submitter
- CAPN2 p.Glu13Ala Uncertain significance Single submitter
- CAPN2 p.Glu16Gln Uncertain significance Single submitter
- CAPN2 p.Glu205Lys Uncertain significance Single submitter
- CAPN2 p.Glu339Gln Uncertain significance Single submitter
- CAPN2 p.Glu402Asp Uncertain significance Single submitter
- CAPN2 p.Glu490Lys Uncertain significance Single submitter
- CAPN2 p.Glu575Val Uncertain significance Single submitter
- CAPN2 p.Glu633Ala Uncertain significance Single submitter
- CAPN2 p.Gly190Arg Uncertain significance Single submitter
- CAPN2 p.Gly19Val Uncertain significance Single submitter
- CAPN2 p.Gly209Arg Uncertain significance Single submitter
- CAPN2 p.Gly372Arg Uncertain significance Single submitter
- CAPN2 p.Gly64Glu Uncertain significance Single submitter
- CAPN2 p.His427Tyr Uncertain significance Single submitter
- CAPN2 p.Ile120Thr Uncertain significance Single submitter
- CAPN2 p.Ile284Val Uncertain significance Single submitter
- CAPN2 p.Ile429Thr Uncertain significance Single submitter
- CAPN2 p.Ile604Phe Uncertain significance Single submitter
- CAPN2 p.Ile604Thr Uncertain significance Single submitter
- CAPN2 p.Ile692Val Uncertain significance Single submitter
- CAPN2 p.Leu237Ile Uncertain significance Single submitter
- CAPN2 p.Leu672Pro Uncertain significance Single submitter
- CAPN2 p.Leu700Val Uncertain significance Single submitter
- CAPN2 p.Lys10Glu Uncertain significance Single submitter
- CAPN2 p.Lys234Gln Uncertain significance Single submitter
- CAPN2 p.Lys450Glu Uncertain significance Single submitter
- CAPN2 p.Met361Ile Uncertain significance Single submitter
- CAPN2 p.Met580Arg Uncertain significance Single submitter
- CAPN2 p.Met580Thr Uncertain significance Single submitter
- CAPN2 p.Met627Thr Uncertain significance Single submitter
- CAPN2 p.Phe139Ser Uncertain significance Single submitter
- CAPN2 p.Phe551Val Uncertain significance Single submitter
- CAPN2 p.Phe676Ser Uncertain significance Single submitter
- CAPN2 p.Pro287Ala Uncertain significance Single submitter
- CAPN2 p.Ser586Leu Uncertain significance Single submitter
- CAPN2 p.Ser619Pro Uncertain significance Single submitter
- CAPN2 p.Thr115Ala Uncertain significance Single submitter
- CAPN2 p.Thr201Ser Uncertain significance Single submitter
- CAPN2 p.Thr406Ile Uncertain significance Single submitter
- CAPN2 p.Thr428Ala Uncertain significance Single submitter
- CAPN2 p.Thr488Pro Uncertain significance Single submitter
- CAPN2 p.Thr671Met Uncertain significance Single submitter
- CAPN2 p.Trp297Gly Uncertain significance Single submitter
- CAPN2 p.Tyr185Cys Uncertain significance Single submitter
- CAPN2 p.Tyr335Cys Uncertain significance Single submitter
- CAPN2 p.Tyr335Ser Uncertain significance Single submitter
- CAPN2 p.Val485Leu Uncertain significance Single submitter
- CAPN2 p.Val616Ile Uncertain significance Single submitter
- CAPN2 p.Val699Ala Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- CAPN2 p.Gly72Asp Uncertain significance Multiple submitters
- CAPN2 p.Lys677Gln Benign Multiple submitters
- CAPN2 p.Ala171Asp Uncertain significance Single submitter
- CAPN2 p.Ala194Ser Uncertain significance Single submitter
- CAPN2 p.Ala247Pro Uncertain significance Single submitter
- CAPN2 p.Ala248Thr Uncertain significance Single submitter
- CAPN2 p.Ala458Thr Uncertain significance Single submitter
- CAPN2 p.Ala6Thr Uncertain significance Single submitter
- CAPN2 p.Arg367Gln Uncertain significance Single submitter
- CAPN2 p.Arg457His Uncertain significance Single submitter
- CAPN2 p.Arg474His Uncertain significance Single submitter
- CAPN2 p.Arg71Trp Uncertain significance Single submitter
- CAPN2 p.Asn134Asp Uncertain significance Single submitter
- CAPN2 p.Asn223Asp Uncertain significance Single submitter
- CAPN2 p.Asn451Lys Likely benign Single submitter
- CAPN2 p.Asn492Asp Uncertain significance Single submitter
- CAPN2 p.Cys301Phe Uncertain significance Single submitter
- CAPN2 p.Gln443His Uncertain significance Single submitter
- CAPN2 p.Glu311Gly Uncertain significance Single submitter
- CAPN2 p.Glu398Lys Uncertain significance Single submitter
- CAPN2 p.Glu435Lys Uncertain significance Single submitter
- CAPN2 p.Glu481Gln Uncertain significance Single submitter
- CAPN2 p.Glu74Lys Uncertain significance Single submitter
- CAPN2 p.Gly404Ser Uncertain significance Single submitter
- CAPN2 p.Gly64Ala Uncertain significance Single submitter
- CAPN2 p.His21Arg Uncertain significance Single submitter
- CAPN2 p.His21Gln Uncertain significance Single submitter
- CAPN2 p.His334Leu Uncertain significance Single submitter
- CAPN2 p.Ile530Thr Uncertain significance Single submitter
- CAPN2 p.Ile646Val Uncertain significance Single submitter
- CAPN2 p.Ile675Arg Uncertain significance Single submitter
- CAPN2 p.Ile73Phe Uncertain significance Single submitter
- CAPN2 p.Ile89Thr Uncertain significance Single submitter
- CAPN2 p.Leu28Pro Uncertain significance Single submitter
- CAPN2 p.Leu679Met Uncertain significance Single submitter
- CAPN2 p.Met627Leu Uncertain significance Single submitter
- CAPN2 p.Met638Thr Uncertain significance Single submitter
- CAPN2 p.Pro65Thr Uncertain significance Single submitter
- CAPN2 p.Ser56Leu Uncertain significance Single submitter
- CAPN2 p.Thr294Ile Uncertain significance Single submitter
- CAPN2 p.Thr306Ala Uncertain significance Single submitter
- CAPN2 p.Thr602Met Uncertain significance Single submitter
- CAPN2 p.Val647Ala Uncertain significance Single submitter
- CAPN2 p.Val647Ile Uncertain significance Single submitter
All CAPN2 variants
Benign 4
- p.Asp48= Multiple submitters
- p.Lys677Gln Multiple submitters ⚠
- c.235_237+11dup Single submitter
- p.Leu348= Single submitter
Likely benign 4
- p.Ala184Thr Single submitter
- p.Asn451Lys Single submitter ⚠
- p.Leu195= Single submitter
- p.Leu689= Single submitter
Uncertain significance 121
- p.Gly72Asp Multiple submitters ⚠
- p.Ala101Pro Single submitter ⚠
- p.Ala171Asp Single submitter ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala247Pro Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala371Thr Single submitter ⚠
- p.Ala458Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala92Val Single submitter ⚠
- p.Arg12Pro Single submitter ⚠
- p.Arg283Pro Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg457His Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg469Trp Single submitter ⚠
- p.Arg474Cys Single submitter ⚠
- p.Arg474His Single submitter ⚠
- p.Arg612Gln Single submitter ⚠
- p.Arg618Gly Single submitter ⚠
- p.Arg628Gln Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg668Gln Single submitter ⚠
- p.Arg668Trp Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn134Asp Single submitter ⚠
- p.Asn223Asp Single submitter ⚠
- p.Asn300Lys Single submitter ⚠
- p.Asn492Asp Single submitter ⚠
- p.Asn519Ser Single submitter ⚠
- p.Asp299Glu Single submitter ⚠
- p.Asp425Val Single submitter ⚠
- p.Asp524Asn Single submitter ⚠
- p.Asp585His Single submitter ⚠
- p.Asp615Asn Single submitter ⚠
- p.Asp658His Single submitter ⚠
- p.Asp680Gly Single submitter ⚠
- p.Cys301Phe Single submitter ⚠
- p.Cys405Ser Single submitter ⚠
- p.Gln443Arg Single submitter ⚠
- p.Gln443His Single submitter ⚠
- p.Glu13Ala Single submitter ⚠
- p.Glu16Gln Single submitter ⚠
- p.Glu205Lys Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu339Gln Single submitter ⚠
- p.Glu398Lys Single submitter ⚠
- p.Glu402Asp Single submitter ⚠
- p.Glu435Lys Single submitter ⚠
- p.Glu481Gln Single submitter ⚠
- p.Glu490Lys Single submitter ⚠
- p.Glu575Val Single submitter ⚠
- p.Glu633Ala Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly19Val Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly372Arg Single submitter ⚠
- p.Gly404Ser Single submitter ⚠
- p.Gly64Ala Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.His21Arg Single submitter ⚠
- p.His21Gln Single submitter ⚠
- p.His334Leu Single submitter ⚠
- p.His427Tyr Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile429Thr Single submitter ⚠
- p.Ile530Thr Single submitter ⚠
- p.Ile604Phe Single submitter ⚠
- p.Ile604Thr Single submitter ⚠
- p.Ile646Val Single submitter ⚠
- p.Ile675Arg Single submitter ⚠
- p.Ile692Val Single submitter ⚠
- p.Ile73Phe Single submitter ⚠
- p.Ile89Thr Single submitter ⚠
- p.Leu237Ile Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Leu672Pro Single submitter ⚠
- p.Leu679Met Single submitter ⚠
- p.Leu700Val Single submitter ⚠
- p.Lys10Glu Single submitter ⚠
- p.Lys234Gln Single submitter ⚠
- p.Lys450Glu Single submitter ⚠
- p.Met361Ile Single submitter ⚠
- p.Met580Arg Single submitter ⚠
- p.Met580Thr Single submitter ⚠
- p.Met627Leu Single submitter ⚠
- p.Met627Thr Single submitter ⚠
- p.Met638Thr Single submitter ⚠
- p.Phe139Ser Single submitter ⚠
- p.Phe551Val Single submitter ⚠
- p.Phe676Ser Single submitter ⚠
- p.Pro287Ala Single submitter ⚠
- p.Pro65Thr Single submitter ⚠
- p.Ser56Leu Single submitter ⚠
- p.Ser586Leu Single submitter ⚠
- p.Ser619Pro Single submitter ⚠
- p.Thr115Ala Single submitter ⚠
- p.Thr201Ser Single submitter ⚠
- p.Thr294Ile Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr406Ile Single submitter ⚠
- p.Thr428Ala Single submitter ⚠
- p.Thr488Pro Single submitter ⚠
- p.Thr602Met Single submitter ⚠
- p.Thr671Met Single submitter ⚠
- p.Trp297Gly Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Tyr335Cys Single submitter ⚠
- p.Tyr335Ser Single submitter ⚠
- p.Val485Leu Single submitter ⚠
- p.Val616Ile Single submitter ⚠
- p.Val647Ala Single submitter ⚠
- p.Val647Ile Single submitter ⚠
- p.Val699Ala Single submitter ⚠