CAPN8 — 78 ClinVar variants
All ClinVar germline CAPN8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
7 Likely benign · 71 Uncertain significance
Full CAPN8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN8 p.Ala112Val Uncertain significance Single submitter
- CAPN8 p.Ala136Glu Uncertain significance Single submitter
- CAPN8 p.Ala248Ser Uncertain significance Single submitter
- CAPN8 p.Arg229Gln Uncertain significance Single submitter
- CAPN8 p.Arg229Trp Uncertain significance Single submitter
- CAPN8 p.Arg94Leu Uncertain significance Single submitter
- CAPN8 p.Asp156Asn Uncertain significance Single submitter
- CAPN8 p.Cys341Arg Uncertain significance Single submitter
- CAPN8 p.Gln4Glu Uncertain significance Single submitter
- CAPN8 p.Gln99His Uncertain significance Single submitter
- CAPN8 p.Glu119Asp Uncertain significance Single submitter
- CAPN8 p.Gly209Ala Uncertain significance Single submitter
- CAPN8 p.Gly289Asp Uncertain significance Single submitter
- CAPN8 p.Ile340Asn Uncertain significance Single submitter
- CAPN8 p.Ile74Thr Uncertain significance Single submitter
- CAPN8 p.Leu315Pro Uncertain significance Single submitter
- CAPN8 p.Leu338Trp Uncertain significance Single submitter
- CAPN8 p.Pro287Ser Uncertain significance Single submitter
- CAPN8 p.Ser294Leu Uncertain significance Single submitter
- CAPN8 p.Ser9Ala Uncertain significance Single submitter
- CAPN8 p.Thr370Ile Uncertain significance Single submitter
- CAPN8 p.Trp356Cys Uncertain significance Single submitter
- CAPN8 p.Val124Met Uncertain significance Single submitter
- CAPN8 p.Val244Ile Uncertain significance Single submitter
- CAPN8 p.Val8Leu Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- CAPN8 p.Ala136Thr Uncertain significance Single submitter
- CAPN8 p.Ala194Ser Uncertain significance Single submitter
- CAPN8 p.Ala231Ser Uncertain significance Single submitter
- CAPN8 p.Ala234Val Uncertain significance Single submitter
- CAPN8 p.Ala247Val Uncertain significance Single submitter
- CAPN8 p.Ala24Thr Uncertain significance Single submitter
- CAPN8 p.Ala296Ser Uncertain significance Single submitter
- CAPN8 p.Arg123Trp Uncertain significance Single submitter
- CAPN8 p.Arg12Trp Uncertain significance Single submitter
- CAPN8 p.Arg310Trp Uncertain significance Single submitter
- CAPN8 p.Arg311Trp Uncertain significance Single submitter
- CAPN8 p.Arg337Gln Uncertain significance Single submitter
- CAPN8 p.Arg337Leu Uncertain significance Single submitter
- CAPN8 p.Arg367Gln Uncertain significance Single submitter
- CAPN8 p.Arg367Trp Uncertain significance Single submitter
- CAPN8 p.Arg390His Likely benign Single submitter
- CAPN8 p.Arg77Gln Uncertain significance Single submitter
- CAPN8 p.Arg77Trp Uncertain significance Single submitter
- CAPN8 p.Arg94His Uncertain significance Single submitter
- CAPN8 p.Asn342Thr Uncertain significance Single submitter
- CAPN8 p.Asp62Ala Uncertain significance Single submitter
- CAPN8 p.Cys39Ser Uncertain significance Single submitter
- CAPN8 p.Gln226Glu Uncertain significance Single submitter
- CAPN8 p.Glu251Lys Uncertain significance Single submitter
- CAPN8 p.Glu80Lys Uncertain significance Single submitter
- CAPN8 p.Gly363Asp Uncertain significance Single submitter
- CAPN8 p.Gly66Ser Uncertain significance Single submitter
- CAPN8 p.Ile211Leu Uncertain significance Single submitter
- CAPN8 p.Ile242Thr Uncertain significance Single submitter
- CAPN8 p.Ile307Thr Uncertain significance Single submitter
- CAPN8 p.Ile340Phe Uncertain significance Single submitter
- CAPN8 p.Ile74Asn Uncertain significance Single submitter
- CAPN8 p.Ile88Phe Uncertain significance Single submitter
- CAPN8 p.Leu281Met Uncertain significance Single submitter
- CAPN8 p.Leu328Val Uncertain significance Single submitter
- CAPN8 p.Ser344Phe Uncertain significance Single submitter
- CAPN8 p.Ser56Pro Uncertain significance Single submitter
- CAPN8 p.Thr15Pro Uncertain significance Single submitter
- CAPN8 p.Thr160Ile Uncertain significance Single submitter
- CAPN8 p.Thr79Met Uncertain significance Single submitter
- CAPN8 p.Trp382Ser Uncertain significance Single submitter
- CAPN8 p.Tyr225His Uncertain significance Single submitter
- CAPN8 p.Tyr377His Uncertain significance Single submitter
- CAPN8 p.Val150Glu Uncertain significance Single submitter
- CAPN8 p.Val259Ile Uncertain significance Single submitter
- CAPN8 p.Val291Ala Uncertain significance Single submitter
- CAPN8 p.Val291Glu Uncertain significance Single submitter
- CAPN8 p.Val89Ile Likely benign Single submitter
All CAPN8 variants
Likely benign 7
- p.Ala196Thr Single submitter
- p.Arg310Gln Single submitter
- p.Arg390His Single submitter ⚠
- p.Gln256Arg Single submitter
- p.Ile74Val Single submitter
- p.Lys440= Single submitter
- p.Val89Ile Single submitter ⚠
Uncertain significance 71
- p.Ala112Val Single submitter ⚠
- p.Ala136Glu Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala231Ser Single submitter ⚠
- p.Ala234Val Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala248Ser Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala296Ser Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg229Gln Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg337Leu Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg367Trp Single submitter ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asn342Thr Single submitter ⚠
- p.Asp156Asn Single submitter ⚠
- p.Asp62Ala Single submitter ⚠
- p.Cys341Arg Single submitter ⚠
- p.Cys39Ser Single submitter ⚠
- p.Gln226Glu Single submitter ⚠
- p.Gln4Glu Single submitter ⚠
- p.Gln99His Single submitter ⚠
- p.Glu119Asp Single submitter ⚠
- p.Glu251Lys Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Gly209Ala Single submitter ⚠
- p.Gly289Asp Single submitter ⚠
- p.Gly363Asp Single submitter ⚠
- p.Gly66Ser Single submitter ⚠
- p.Ile211Leu Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Ile307Thr Single submitter ⚠
- p.Ile340Asn Single submitter ⚠
- p.Ile340Phe Single submitter ⚠
- p.Ile74Asn Single submitter ⚠
- p.Ile74Thr Single submitter ⚠
- p.Ile88Phe Single submitter ⚠
- p.Leu281Met Single submitter ⚠
- p.Leu315Pro Single submitter ⚠
- p.Leu328Val Single submitter ⚠
- p.Leu338Trp Single submitter ⚠
- p.Pro287Ser Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Ser344Phe Single submitter ⚠
- p.Ser56Pro Single submitter ⚠
- p.Ser9Ala Single submitter ⚠
- p.Thr15Pro Single submitter ⚠
- p.Thr160Ile Single submitter ⚠
- p.Thr370Ile Single submitter ⚠
- p.Thr79Met Single submitter ⚠
- p.Trp356Cys Single submitter ⚠
- p.Trp382Ser Single submitter ⚠
- p.Tyr225His Single submitter ⚠
- p.Tyr377His Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val150Glu Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val259Ile Single submitter ⚠
- p.Val291Ala Single submitter ⚠
- p.Val291Glu Single submitter ⚠
- p.Val8Leu Single submitter ⚠