CAPN14 — 135 ClinVar variants
All ClinVar germline CAPN14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
1 Conflicting · 1 Benign · 11 Likely benign · 122 Uncertain significance
Full CAPN14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN14 p.Ala183Thr Uncertain significance Single submitter
- CAPN14 p.Ala35Thr Uncertain significance Single submitter
- CAPN14 p.Ala613Val Uncertain significance Single submitter
- CAPN14 p.Arg119Gln Uncertain significance Single submitter
- CAPN14 p.Arg277Pro Uncertain significance Single submitter
- CAPN14 p.Arg412His Uncertain significance Single submitter
- CAPN14 p.Arg68His Uncertain significance Single submitter
- CAPN14 p.Asn445Ser Uncertain significance Single submitter
- CAPN14 p.Asp152Asn Uncertain significance Single submitter
- CAPN14 p.Asp92Asn Uncertain significance Single submitter
- CAPN14 p.Gln27Arg Uncertain significance Single submitter
- CAPN14 p.Gln580Arg Uncertain significance Single submitter
- CAPN14 p.Glu158Ala Uncertain significance Single submitter
- CAPN14 p.Glu511Val Uncertain significance Single submitter
- CAPN14 p.Glu657Gly Uncertain significance Single submitter
- CAPN14 p.Gly143Glu Uncertain significance Single submitter
- CAPN14 p.Gly236Ser Uncertain significance Single submitter
- CAPN14 p.Gly249Glu Uncertain significance Single submitter
- CAPN14 p.Gly57Asp Uncertain significance Single submitter
- CAPN14 p.Gly635Ser Uncertain significance Single submitter
- CAPN14 p.Gly636Ser Uncertain significance Single submitter
- CAPN14 p.His240Pro Uncertain significance Single submitter
- CAPN14 p.His612Tyr Uncertain significance Single submitter
- CAPN14 p.His78Gln Uncertain significance Single submitter
- CAPN14 p.Ile477Leu Uncertain significance Single submitter
- CAPN14 p.Ile56Val Uncertain significance Single submitter
- CAPN14 p.Ile579Val Uncertain significance Single submitter
- CAPN14 p.Ile632Phe Uncertain significance Single submitter
- CAPN14 p.Ile670Met Uncertain significance Single submitter
- CAPN14 p.Leu172Phe Uncertain significance Single submitter
- CAPN14 p.Leu276Pro Uncertain significance Single submitter
- CAPN14 p.Leu591Val Uncertain significance Single submitter
- CAPN14 p.Leu672Pro Uncertain significance Single submitter
- CAPN14 p.Lys170Asn Uncertain significance Single submitter
- CAPN14 p.Lys170Glu Uncertain significance Single submitter
- CAPN14 p.Lys267Arg Uncertain significance Single submitter
- CAPN14 p.Lys64Asn Uncertain significance Single submitter
- CAPN14 p.Met545Lys Uncertain significance Single submitter
- CAPN14 p.Met545Thr Uncertain significance Single submitter
- CAPN14 p.Met650Ile Uncertain significance Single submitter
- CAPN14 p.Met650Val Uncertain significance Single submitter
- CAPN14 p.Met656Val Uncertain significance Single submitter
- CAPN14 p.Met678Val Uncertain significance Single submitter
- CAPN14 p.Met680Val Uncertain significance Single submitter
- CAPN14 p.Phe44Cys Uncertain significance Single submitter
- CAPN14 p.Phe497Ile Uncertain significance Single submitter
- CAPN14 p.Phe582Leu Uncertain significance Single submitter
- CAPN14 p.Phe7Leu Uncertain significance Single submitter
- CAPN14 p.Pro23Leu Uncertain significance Single submitter
- CAPN14 p.Pro438Ser Uncertain significance Single submitter
- CAPN14 p.Pro475Ser Uncertain significance Single submitter
- CAPN14 p.Pro75Ser Uncertain significance Single submitter
- CAPN14 p.Ser2Cys Uncertain significance Single submitter
- CAPN14 p.Ser300Gly Uncertain significance Single submitter
- CAPN14 p.Ser623Thr Uncertain significance Single submitter
- CAPN14 p.Thr233Ala Uncertain significance Single submitter
- CAPN14 p.Thr524Ser Uncertain significance Single submitter
- CAPN14 p.Trp102Leu Uncertain significance Single submitter
- CAPN14 p.Trp11Arg Uncertain significance Single submitter
- CAPN14 p.Trp289Leu Uncertain significance Single submitter
- CAPN14 p.Trp385Gly Uncertain significance Single submitter
- CAPN14 p.Trp677Arg Uncertain significance Single submitter
- CAPN14 p.Tyr430His Uncertain significance Single submitter
- CAPN14 p.Val331Ile Uncertain significance Single submitter
- CAPN14 p.Val507Ile Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- CAPN14 p.Ala255Thr Uncertain significance Single submitter
- CAPN14 p.Ala51Thr Uncertain significance Single submitter
- CAPN14 p.Arg119Trp Uncertain significance Single submitter
- CAPN14 p.Arg136Trp Uncertain significance Single submitter
- CAPN14 p.Arg153Cys Uncertain significance Single submitter
- CAPN14 p.Arg153His Uncertain significance Single submitter
- CAPN14 p.Arg277Trp Uncertain significance Single submitter
- CAPN14 p.Arg412Cys Uncertain significance Single submitter
- CAPN14 p.Arg601Cys Uncertain significance Single submitter
- CAPN14 p.Arg601Gly Uncertain significance Single submitter
- CAPN14 p.Arg601His Likely benign Single submitter
- CAPN14 p.Arg633Leu Uncertain significance Single submitter
- CAPN14 p.Arg638Cys Uncertain significance Single submitter
- CAPN14 p.Arg652His Uncertain significance Single submitter
- CAPN14 p.Arg652Pro Uncertain significance Single submitter
- CAPN14 p.Asn171His Uncertain significance Single submitter
- CAPN14 p.Asp115Gly Uncertain significance Single submitter
- CAPN14 p.Cys37Tyr Uncertain significance Single submitter
- CAPN14 p.Glu158Lys Uncertain significance Single submitter
- CAPN14 p.Glu315Asp Uncertain significance Single submitter
- CAPN14 p.Glu440Lys Uncertain significance Single submitter
- CAPN14 p.Gly187Cys Uncertain significance Single submitter
- CAPN14 p.Gly253Val Uncertain significance Single submitter
- CAPN14 p.Gly390Cys Uncertain significance Single submitter
- CAPN14 p.Gly667Val Uncertain significance Single submitter
- CAPN14 p.His141Tyr Uncertain significance Single submitter
- CAPN14 p.His326Asp Uncertain significance Single submitter
- CAPN14 p.His326Tyr Uncertain significance Single submitter
- CAPN14 p.Ile235Thr Uncertain significance Single submitter
- CAPN14 p.Ile245Phe Uncertain significance Single submitter
- CAPN14 p.Ile261Met Uncertain significance Single submitter
- CAPN14 p.Ile647Asn Uncertain significance Single submitter
- CAPN14 p.Leu107Phe Uncertain significance Single submitter
-
CAPN14 p.Leu417Phe
Conflicting
Single submitter
amyotrophic lateral sclerosis
- CAPN14 p.Leu585Val Uncertain significance Single submitter
- CAPN14 p.Leu631Pro Uncertain significance Single submitter
- CAPN14 p.Leu649Trp Uncertain significance Single submitter
- CAPN14 p.Lys275Glu Uncertain significance Single submitter
- CAPN14 p.Met577Thr Uncertain significance Single submitter
- CAPN14 p.Pro387Leu Uncertain significance Single submitter
- CAPN14 p.Pro416Thr Uncertain significance Single submitter
- CAPN14 p.Pro50Leu Uncertain significance Single submitter
- CAPN14 p.Pro67Leu Uncertain significance Single submitter
- CAPN14 p.Pro81Ser Uncertain significance Single submitter
- CAPN14 p.Ser290Thr Uncertain significance Single submitter
- CAPN14 p.Ser393Phe Uncertain significance Single submitter
- CAPN14 p.Ser55Ala Uncertain significance Single submitter
- CAPN14 p.Thr319Met Uncertain significance Single submitter
- CAPN14 p.Thr373Lys Uncertain significance Single submitter
- CAPN14 p.Thr470Met Uncertain significance Single submitter
- CAPN14 p.Trp222Ser Uncertain significance Single submitter
- CAPN14 p.Val120Ile Uncertain significance Single submitter
- CAPN14 p.Val163Phe Uncertain significance Single submitter
- CAPN14 p.Val251Gly Uncertain significance Single submitter
- CAPN14 p.Val264Leu Uncertain significance Single submitter
- CAPN14 p.Val264Met Uncertain significance Single submitter
- CAPN14 p.Val401Met Uncertain significance Single submitter
- CAPN14 p.Val474Met Uncertain significance Single submitter
- CAPN14 p.Val98Ala Uncertain significance Single submitter
All CAPN14 variants
Conflicting classifications of pathogenicity 1
- p.Leu417Phe Single submitter amyotrophic lateral sclerosis ⚠
Benign 1
- p.Leu185= Multiple submitters
Likely benign 11
- p.Ala14Gly Single submitter
- p.Ala344Val Single submitter
- p.Ala88Thr Single submitter
- p.Arg601His Single submitter ⚠
- p.Asp372Gly Single submitter
- p.Glu227Lys Single submitter
- p.Glu388Gln Single submitter
- p.His612Arg Single submitter
- p.Lys483Glu Single submitter
- p.Ser504= Single submitter
- p.Thr446Ala Single submitter
Uncertain significance 122
- p.Ala183Thr Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala613Val Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg277Pro Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg412His Single submitter ⚠
- p.Arg601Cys Single submitter ⚠
- p.Arg601Gly Single submitter ⚠
- p.Arg633Leu Single submitter ⚠
- p.Arg638Cys Single submitter ⚠
- p.Arg652His Single submitter ⚠
- p.Arg652Pro Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Asn171His Single submitter ⚠
- p.Asn445Ser Single submitter ⚠
- p.Asp115Gly Single submitter ⚠
- p.Asp152Asn Single submitter ⚠
- p.Asp92Asn Single submitter ⚠
- p.Cys37Tyr Single submitter ⚠
- p.Gln27Arg Single submitter ⚠
- p.Gln580Arg Single submitter ⚠
- p.Glu158Ala Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu315Asp Single submitter ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu511Val Single submitter ⚠
- p.Glu657Gly Single submitter ⚠
- p.Gly143Glu Single submitter ⚠
- p.Gly187Cys Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Gly253Val Single submitter ⚠
- p.Gly390Cys Single submitter ⚠
- p.Gly57Asp Single submitter ⚠
- p.Gly635Ser Single submitter ⚠
- p.Gly636Ser Single submitter ⚠
- p.Gly667Val Single submitter ⚠
- p.His141Tyr Single submitter ⚠
- p.His240Pro Single submitter ⚠
- p.His326Asp Single submitter ⚠
- p.His326Tyr Single submitter ⚠
- p.His612Tyr Single submitter ⚠
- p.His78Gln Single submitter ⚠
- p.Ile235Thr Single submitter ⚠
- p.Ile245Phe Single submitter ⚠
- p.Ile261Met Single submitter ⚠
- p.Ile477Leu Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Ile579Val Single submitter ⚠
- p.Ile632Phe Single submitter ⚠
- p.Ile647Asn Single submitter ⚠
- p.Ile670Met Single submitter ⚠
- p.Leu107Phe Single submitter ⚠
- p.Leu172Phe Single submitter ⚠
- p.Leu276Pro Single submitter ⚠
- p.Leu585Val Single submitter ⚠
- p.Leu591Val Single submitter ⚠
- p.Leu631Pro Single submitter ⚠
- p.Leu649Trp Single submitter ⚠
- p.Leu672Pro Single submitter ⚠
- p.Lys170Asn Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys275Glu Single submitter ⚠
- p.Lys64Asn Single submitter ⚠
- p.Met545Lys Single submitter ⚠
- p.Met545Thr Single submitter ⚠
- p.Met577Thr Single submitter ⚠
- p.Met650Ile Single submitter ⚠
- p.Met650Val Single submitter ⚠
- p.Met656Val Single submitter ⚠
- p.Met678Val Single submitter ⚠
- p.Met680Val Single submitter ⚠
- p.Phe44Cys Single submitter ⚠
- p.Phe497Ile Single submitter ⚠
- p.Phe582Leu Single submitter ⚠
- p.Phe7Leu Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Pro416Thr Single submitter ⚠
- p.Pro438Ser Single submitter ⚠
- p.Pro475Ser Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Pro75Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser290Thr Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Ser300Gly Single submitter ⚠
- p.Ser393Phe Single submitter ⚠
- p.Ser55Ala Single submitter ⚠
- p.Ser623Thr Single submitter ⚠
- p.Thr233Ala Single submitter ⚠
- p.Thr319Met Single submitter ⚠
- p.Thr373Lys Single submitter ⚠
- p.Thr470Met Single submitter ⚠
- p.Thr524Ser Single submitter ⚠
- p.Trp102Leu Single submitter ⚠
- p.Trp11Arg Single submitter ⚠
- p.Trp222Ser Single submitter ⚠
- p.Trp289Leu Single submitter ⚠
- p.Trp385Gly Single submitter ⚠
- p.Trp677Arg Single submitter ⚠
- p.Tyr430His Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val163Phe Single submitter ⚠
- p.Val251Gly Single submitter ⚠
- p.Val264Leu Single submitter ⚠
- p.Val264Met Single submitter ⚠
- p.Val331Ile Single submitter ⚠
- p.Val401Met Single submitter ⚠
- p.Val474Met Single submitter ⚠
- p.Val507Ile Single submitter ⚠
- p.Val98Ala Single submitter ⚠