CAPZA1 — 38 ClinVar variants
All ClinVar germline CAPZA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Likely benign · 36 Uncertain significance
Full CAPZA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPZA1 p.Ala50Ser Uncertain significance Single submitter
- CAPZA1 p.Arg172His Uncertain significance Single submitter
- CAPZA1 p.Asn138Ser Uncertain significance Single submitter
- CAPZA1 p.Asp211Glu Uncertain significance Single submitter
- CAPZA1 p.Gln61His Uncertain significance Single submitter
- CAPZA1 p.Gly139Ser Uncertain significance Single submitter
- CAPZA1 p.Gly139Val Uncertain significance Single submitter
- CAPZA1 p.His135Arg Uncertain significance Single submitter
- CAPZA1 p.His209Leu Uncertain significance Single submitter
- CAPZA1 p.His23Gln Uncertain significance Single submitter
- CAPZA1 p.Lys19Thr Uncertain significance Single submitter
- CAPZA1 p.Lys226Arg Uncertain significance Single submitter
- CAPZA1 p.Phe4Ser Uncertain significance Single submitter
- CAPZA1 p.Ser219Thr Uncertain significance Single submitter
- CAPZA1 p.Thr253Ala Uncertain significance Single submitter
- CAPZA1 p.Trp120Arg Uncertain significance Single submitter
- CAPZA1 p.Val36Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CAPZA1 p.Arg15Cys Uncertain significance Single submitter
- CAPZA1 p.Asn34Ser Uncertain significance Single submitter
- CAPZA1 p.Asp10Ala Uncertain significance Single submitter
- CAPZA1 p.Asp214His Uncertain significance Single submitter
- CAPZA1 p.Asp5Asn Uncertain significance Single submitter
- CAPZA1 p.Asp60Asn Uncertain significance Single submitter
- CAPZA1 p.Gln213Arg Uncertain significance Single submitter
- CAPZA1 p.Glu104Asp Uncertain significance Single submitter
- CAPZA1 p.Glu112Lys Uncertain significance Single submitter
- CAPZA1 p.Glu122Lys Uncertain significance Single submitter
- CAPZA1 p.Glu12Lys Likely benign Single submitter
- CAPZA1 p.Glu233Lys Uncertain significance Single submitter
- CAPZA1 p.Ile16Val Uncertain significance Single submitter
- CAPZA1 p.Ile67Thr Uncertain significance Single submitter
- CAPZA1 p.Lys230Glu Uncertain significance Single submitter
- CAPZA1 p.Lys268Arg Uncertain significance Single submitter
- CAPZA1 p.Ser244Thr Uncertain significance Single submitter
- CAPZA1 p.Thr147Ile Uncertain significance Single submitter
- CAPZA1 p.Thr63Met Uncertain significance Single submitter
- CAPZA1 p.Val191Met Uncertain significance Single submitter
All CAPZA1 variants
Likely benign 2
- c.657+7A>G Single submitter
- p.Glu12Lys Single submitter ⚠
Uncertain significance 36
- p.Ala50Ser Single submitter ⚠
- p.Arg15Cys Single submitter ⚠
- p.Arg172His Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asp10Ala Single submitter ⚠
- p.Asp211Glu Single submitter ⚠
- p.Asp214His Single submitter ⚠
- p.Asp5Asn Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Gln213Arg Single submitter ⚠
- p.Gln61His Single submitter ⚠
- p.Glu104Asp Single submitter ⚠
- p.Glu112Lys Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly139Val Single submitter ⚠
- p.His135Arg Single submitter ⚠
- p.His209Leu Single submitter ⚠
- p.His23Gln Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Lys19Thr Single submitter ⚠
- p.Lys226Arg Single submitter ⚠
- p.Lys230Glu Single submitter ⚠
- p.Lys268Arg Single submitter ⚠
- p.Phe4Ser Single submitter ⚠
- p.Ser219Thr Single submitter ⚠
- p.Ser244Thr Single submitter ⚠
- p.Thr147Ile Single submitter ⚠
- p.Thr253Ala Single submitter ⚠
- p.Thr63Met Single submitter ⚠
- p.Trp120Arg Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val36Leu Single submitter ⚠