CAPZA2 — 49 ClinVar variants
All ClinVar germline CAPZA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 46 Uncertain significance
Full CAPZA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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CAPZA2 p.Arg259Leu
Conflicting
Single submitter
intellectual disability
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPZA2 p.Ala116Thr Uncertain significance Single submitter
- CAPZA2 p.Ala2Thr Uncertain significance Single submitter
- CAPZA2 p.Ala50Gly Uncertain significance Single submitter
- CAPZA2 p.Ala55Val Uncertain significance Single submitter
- CAPZA2 p.Asn42Asp Uncertain significance Single submitter
- CAPZA2 p.Asn42His Uncertain significance Single submitter
- CAPZA2 p.Cys141Tyr Uncertain significance Single submitter
- CAPZA2 p.Gln261Arg Uncertain significance Single submitter
- CAPZA2 p.His135Leu Uncertain significance Single submitter
- CAPZA2 p.His23Pro Uncertain significance Single submitter
- CAPZA2 p.Ile274Asn Uncertain significance Single submitter
- CAPZA2 p.Leu262Phe Uncertain significance Single submitter
- CAPZA2 p.Leu39Val Uncertain significance Single submitter
- CAPZA2 p.Leu88Phe Uncertain significance Single submitter
- CAPZA2 p.Met250Val Uncertain significance Single submitter
- CAPZA2 p.Phe33Val Uncertain significance Single submitter
- CAPZA2 p.Pro108Ala Uncertain significance Single submitter
- CAPZA2 p.Ser215Cys Uncertain significance Single submitter
- CAPZA2 p.Thr180Ile Uncertain significance Single submitter
- CAPZA2 p.Thr180Ser Uncertain significance Single submitter
- CAPZA2 p.Thr185Ala Uncertain significance Single submitter
- CAPZA2 p.Val207Met Uncertain significance Single submitter
- CAPZA2 p.Val32Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CAPZA2 p.Ala130Val Uncertain significance Single submitter
- CAPZA2 p.Ala18Thr Uncertain significance Single submitter
- CAPZA2 p.Ala225Ser Uncertain significance Single submitter
- CAPZA2 p.Arg102Lys Uncertain significance Single submitter
- CAPZA2 p.Asn237Ser Uncertain significance Single submitter
- CAPZA2 p.Cys141Ser Uncertain significance Single submitter
- CAPZA2 p.Glu11Asp Uncertain significance Single submitter
- CAPZA2 p.Ile212Thr Uncertain significance Single submitter
- CAPZA2 p.Ile274Met Uncertain significance Single submitter
- CAPZA2 p.Lys91Asn Uncertain significance Single submitter
- CAPZA2 p.Pro183His Uncertain significance Single submitter
- CAPZA2 p.Val65Ile Uncertain significance Single submitter
All CAPZA2 variants
Pathogenic 1
- p.Lys256Glu Single submitter intellectual disability
Likely pathogenic 1
- p.Arg259Cys Single submitter
Conflicting classifications of pathogenicity 1
- p.Arg259Leu Single submitter intellectual disability ⚠
Uncertain significance 46
- c.103+1G>A Single submitter neurodevelopmental disorder
- c.585+1G>T Single submitter
- c.585+2T>G Single submitter
- c.720+1G>A Single submitter
- p.Ala116Thr Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala225Ser Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg102Lys Single submitter ⚠
- p.Asn237Ser Single submitter ⚠
- p.Asn42Asp Single submitter ⚠
- p.Asn42His Single submitter ⚠
- p.Asp10del Single submitter
- p.Cys141Ser Single submitter ⚠
- p.Cys141Tyr Single submitter ⚠
- p.Gln187Ter Single submitter
- p.Gln261Arg Single submitter ⚠
- p.Gln7fs Single submitter
- p.Glu11Asp Single submitter ⚠
- p.His135Leu Single submitter ⚠
- p.His23Pro Single submitter ⚠
- p.Ile148fs Single submitter
- p.Ile212fs Single submitter
- p.Ile212Thr Single submitter ⚠
- p.Ile274Asn Single submitter ⚠
- p.Ile274Met Single submitter ⚠
- p.Leu262Phe Single submitter ⚠
- p.Leu39Val Single submitter ⚠
- p.Leu88Phe Single submitter ⚠
- p.Lys91Asn Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met250Val Single submitter ⚠
- p.Phe33Val Single submitter ⚠
- p.Pro108Ala Single submitter ⚠
- p.Pro183His Single submitter ⚠
- p.Ser215Cys Single submitter ⚠
- p.Thr180Ile Single submitter ⚠
- p.Thr180Ser Single submitter ⚠
- p.Thr185Ala Single submitter ⚠
- p.Trp271Ter Single submitter
- p.Val207Met Single submitter ⚠
- p.Val32Ile Single submitter ⚠
- p.Val65Ile Single submitter ⚠