CAPN6 — 56 ClinVar variants
All ClinVar germline CAPN6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 12 Benign · 1 Likely benign · 41 Uncertain significance
Full CAPN6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CAPN6 p.Gly287Glu
Likely pathogenic
No assertion criteria
essential tremor
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.
- CAPN6 p.Arg341His Uncertain significance Single submitter
- CAPN6 p.Arg370Cys Uncertain significance Single submitter
- CAPN6 p.Asn508Lys Uncertain significance Single submitter
- CAPN6 p.Asp329Asn Uncertain significance Single submitter
- CAPN6 p.Gln240Lys Uncertain significance Single submitter
- CAPN6 p.Gln555Arg Uncertain significance Single submitter
- CAPN6 p.Glu130Lys Uncertain significance Single submitter
- CAPN6 p.Glu15Lys Uncertain significance Single submitter
- CAPN6 p.His71Asn Uncertain significance Single submitter
- CAPN6 p.Lys433Asn Uncertain significance Single submitter
- CAPN6 p.Lys615Asn Uncertain significance Single submitter
- CAPN6 p.Met199Val Uncertain significance Single submitter
- CAPN6 p.Pro111Thr Uncertain significance Single submitter
- CAPN6 p.Pro416His Uncertain significance Single submitter
- CAPN6 p.Ser273Gly Uncertain significance Single submitter
- CAPN6 p.Ser459Arg Uncertain significance Single submitter
- CAPN6 p.Ser480Thr Uncertain significance Single submitter
- CAPN6 p.Thr100Ala Uncertain significance Single submitter
- CAPN6 p.Thr114Ala Uncertain significance Single submitter
- CAPN6 p.Thr183Ser Uncertain significance Single submitter
- CAPN6 p.Thr223Ala Uncertain significance Single submitter
- CAPN6 p.Thr447Asn Uncertain significance Single submitter
- CAPN6 p.Val492Leu Uncertain significance Single submitter
- CAPN6 p.Val582Ile Uncertain significance Single submitter
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CAPN6 p.Arg586Gln
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 16
The independent predictors disagree with each other — read with care.
- CAPN6 p.Arg260Cys Uncertain significance Single submitter
- CAPN6 p.Arg408Cys Uncertain significance Single submitter
- CAPN6 p.Arg551His Uncertain significance Single submitter
- CAPN6 p.Asp60Ala Uncertain significance Single submitter
- CAPN6 p.Cys506Phe Uncertain significance Single submitter
- CAPN6 p.Gln519Glu Uncertain significance Single submitter
- CAPN6 p.Glu115Ala Uncertain significance Single submitter
- CAPN6 p.Glu239Gly Uncertain significance Single submitter
- CAPN6 p.Ile232Thr Uncertain significance Single submitter
- CAPN6 p.Ile451Thr Uncertain significance Single submitter
- CAPN6 p.Ile578Val Uncertain significance Single submitter
- CAPN6 p.Lys213Met Uncertain significance Single submitter
- CAPN6 p.Lys530Asn Uncertain significance Single submitter
- CAPN6 p.Thr447Ile Uncertain significance Single submitter
- CAPN6 p.Tyr419Cys Uncertain significance Single submitter
- CAPN6 p.Val362Ala Uncertain significance Single submitter
All CAPN6 variants
Pathogenic 1
- p.Asp363fs Single submitter Neurodevelopmental delay
Likely pathogenic 1
- p.Gly287Glu No assertion criteria essential tremor ⚠
Benign 12
- c.1158+128A>T Multiple submitters
- c.1743+105G>A Multiple submitters
- c.297+86C>T Multiple submitters
- c.699+25C>T Multiple submitters
- c.700-159T>C Multiple submitters
- p.Tyr117= Multiple submitters
- p.Val277Leu Multiple submitters
- c.166-237G>C Single submitter
- c.1743+254C>T Single submitter
- c.894-15del Single submitter
- c.894-28dup Single submitter
- p.Thr472= Single submitter
Likely benign 1
- p.Pro514= Single submitter
Uncertain significance 41
- p.Arg260Cys Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg370Cys Single submitter ⚠
- p.Arg408Cys Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Asn508Lys Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp60Ala Single submitter ⚠
- p.Cys506Phe Single submitter ⚠
- p.Gln240Lys Single submitter ⚠
- p.Gln519Glu Single submitter ⚠
- p.Gln555Arg Single submitter ⚠
- p.Glu115Ala Single submitter ⚠
- p.Glu130Lys Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu239Gly Single submitter ⚠
- p.His71Asn Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile451Thr Single submitter ⚠
- p.Ile578Val Single submitter ⚠
- p.Lys213Met Single submitter ⚠
- p.Lys433Asn Single submitter ⚠
- p.Lys530Asn Single submitter ⚠
- p.Lys615Asn Single submitter ⚠
- p.Met199Val Single submitter ⚠
- p.Pro111Thr Single submitter ⚠
- p.Pro416His Single submitter ⚠
- p.Ser273Gly Single submitter ⚠
- p.Ser459Arg Single submitter ⚠
- p.Ser480Thr Single submitter ⚠
- p.Thr100Ala Single submitter ⚠
- p.Thr114Ala Single submitter ⚠
- p.Thr183Ser Single submitter ⚠
- p.Thr223Ala Single submitter ⚠
- p.Thr447Asn Single submitter ⚠
- p.Thr447Ile Single submitter ⚠
- p.Tyr419Cys Single submitter ⚠
- p.Val362Ala Single submitter ⚠
- p.Val492Leu Single submitter ⚠
- p.Val582Ile Single submitter ⚠
- p.Arg586Gln No assertion criteria prostate cancer ⚠