CCZ1B — 66 ClinVar variants
All ClinVar germline CCZ1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Conflicting · 5 Likely benign · 60 Uncertain significance
Full CCZ1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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.
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCZ1B p.Ala14Pro Uncertain significance Single submitter
- CCZ1B p.Ala323Asp Uncertain significance Single submitter
- CCZ1B p.Ala330Gly Uncertain significance Single submitter
- CCZ1B p.Arg107Gln Uncertain significance Single submitter
- CCZ1B p.Arg212Lys Uncertain significance Single submitter
- CCZ1B p.Arg447Gln Uncertain significance Single submitter
- CCZ1B p.Arg447Trp Uncertain significance Single submitter
- CCZ1B p.Asn457Ser Uncertain significance Single submitter
- CCZ1B p.Asn94Ser Uncertain significance Single submitter
- CCZ1B p.Cys471Arg Uncertain significance Single submitter
- CCZ1B p.Gln182Lys Uncertain significance Single submitter
- CCZ1B p.Gln19Glu Uncertain significance Single submitter
- CCZ1B p.Gln19His Uncertain significance Single submitter
- CCZ1B p.Glu123Ala Uncertain significance Single submitter
- CCZ1B p.Glu128Asp Uncertain significance Single submitter
- CCZ1B p.Gly280Val Uncertain significance Single submitter
- CCZ1B p.Gly7Glu Uncertain significance Single submitter
- CCZ1B p.His333Tyr Uncertain significance Single submitter
- CCZ1B p.His85Pro Uncertain significance Single submitter
- CCZ1B p.Ile111Thr Uncertain significance Single submitter
- CCZ1B p.Ile232Leu Uncertain significance Single submitter
- CCZ1B p.Ile315Val Uncertain significance Single submitter
- CCZ1B p.Lys162Glu Uncertain significance Single submitter
- CCZ1B p.Lys58Thr Uncertain significance Single submitter
- CCZ1B p.Met213Ile Uncertain significance Single submitter
- CCZ1B p.Met327Val Uncertain significance Single submitter
- CCZ1B p.Ser208Cys Uncertain significance Single submitter
- CCZ1B p.Trp101Ser Uncertain significance Single submitter
- CCZ1B p.Tyr145Cys Uncertain significance Single submitter
- CCZ1B p.Val103Phe Uncertain significance Single submitter
- CCZ1B p.Val106Ile Uncertain significance Single submitter
- CCZ1B p.Val161Ile Uncertain significance Single submitter
- CCZ1B p.Val467Ala Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CCZ1B p.Ala155Gly Uncertain significance Single submitter
- CCZ1B p.Ala294Thr Uncertain significance Single submitter
- CCZ1B p.Ala4Thr Uncertain significance Single submitter
- CCZ1B p.Ala8Thr Uncertain significance Single submitter
- CCZ1B p.Arg139Trp Uncertain significance Single submitter
- CCZ1B p.Arg90Thr Uncertain significance Single submitter
- CCZ1B p.Asn290Ser Uncertain significance Single submitter
- CCZ1B p.Asp229Asn Uncertain significance Single submitter
- CCZ1B p.Asp329Asn Uncertain significance Single submitter
- CCZ1B p.Asp482Asn Uncertain significance Single submitter
- CCZ1B p.Gln230Glu Uncertain significance Single submitter
- CCZ1B p.Glu123Asp Uncertain significance Single submitter
- CCZ1B p.Glu66Gln Uncertain significance Single submitter
- CCZ1B p.Lys246Glu Uncertain significance Single submitter
- CCZ1B p.Pro21Gln Uncertain significance Single submitter
- CCZ1B p.Pro21Ser Uncertain significance Single submitter
- CCZ1B p.Pro32Ser Uncertain significance Single submitter
- CCZ1B p.Ser136Leu Uncertain significance Single submitter
- CCZ1B p.Ser208Ala Uncertain significance Single submitter
- CCZ1B p.Ser216Arg Uncertain significance Single submitter
- CCZ1B p.Ser368Phe Uncertain significance Single submitter
- CCZ1B p.Ser83Thr Uncertain significance Single submitter
- CCZ1B p.Thr178Met Uncertain significance Single submitter
- CCZ1B p.Thr335Pro Uncertain significance Single submitter
- CCZ1B p.Thr473Met Uncertain significance Single submitter
- CCZ1B p.Val161Phe Uncertain significance Single submitter
- CCZ1B p.Val316Ile Uncertain significance Single submitter
All CCZ1B variants
Conflicting classifications of pathogenicity 1
- p.Ala323Thr Single submitter ⚠
Likely benign 5
- p.Ala6= Single submitter
- p.Arg422= Single submitter
- p.Arg446Gln Single submitter
- p.Gln40Glu Single submitter
- p.Tyr309= Single submitter
Uncertain significance 60
- p.Ala14Pro Single submitter ⚠
- p.Ala155Gly Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala323Asp Single submitter ⚠
- p.Ala330Gly Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg107Gln Single submitter ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg212Lys Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg447Trp Single submitter ⚠
- p.Arg90Thr Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn457Ser Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp482Asn Single submitter ⚠
- p.Cys471Arg Single submitter ⚠
- p.Gln182Lys Single submitter ⚠
- p.Gln19Glu Single submitter ⚠
- p.Gln19His Single submitter ⚠
- p.Gln230Glu Single submitter ⚠
- p.Glu123Ala Single submitter ⚠
- p.Glu123Asp Single submitter ⚠
- p.Glu128Asp Single submitter ⚠
- p.Glu66Gln Single submitter ⚠
- p.Gly280Val Single submitter ⚠
- p.Gly7Glu Single submitter ⚠
- p.His333Tyr Single submitter ⚠
- p.His85Pro Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Ile232Leu Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Lys162Glu Single submitter ⚠
- p.Lys246Glu Single submitter ⚠
- p.Lys58Thr Single submitter ⚠
- p.Met213Ile Single submitter ⚠
- p.Met327Val Single submitter ⚠
- p.Pro21Gln Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Ser136Leu Single submitter ⚠
- p.Ser208Ala Single submitter ⚠
- p.Ser208Cys Single submitter ⚠
- p.Ser216Arg Single submitter ⚠
- p.Ser368Phe Single submitter ⚠
- p.Ser83Thr Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Thr335Pro Single submitter ⚠
- p.Thr473Met Single submitter ⚠
- p.Trp101Ser Single submitter ⚠
- p.Tyr145Cys Single submitter ⚠
- p.Val103Phe Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val161Phe Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val467Ala Single submitter ⚠