CCZ1 — 77 ClinVar variants

All ClinVar germline CCZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Benign · 4 Likely benign · 71 Uncertain significance

Full CCZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CCZ1 variants

Benign 2

c.1394-5T>C Single submitter
p.Val332Ile Single submitter

Likely benign 4

p.Arg446Gln Single submitter
p.Ile345= Single submitter
p.Met367Ile Single submitter
p.Met410Leu Single submitter

Uncertain significance 71

p.Ala224Ser Single submitter
p.Ala224Val Single submitter
p.Ala4Val Single submitter
p.Arg174Gln Single submitter
p.Arg174Trp Single submitter
p.Arg269Lys Single submitter
p.Arg340Gln Single submitter
p.Arg446Trp Single submitter
p.Arg447Gln Single submitter
p.Arg447Trp Single submitter
p.Arg73Gly Single submitter
p.Asn228Lys Single submitter
p.Asn288Lys Single submitter
p.Asn290Ser Single submitter
p.Asn61Lys Single submitter
p.Asn94Ser Single submitter
p.Asp291Asn Single submitter
p.Asp356Asn Single submitter
p.Asp436Val Single submitter
p.Gln125Glu Single submitter
p.Gln177Lys Single submitter
p.Gln474Pro Single submitter
p.Glu157Lys Single submitter
p.Glu97Gly Single submitter
p.Gly11Glu Single submitter
p.His313Arg Single submitter
p.Ile210Phe Single submitter
p.Ile232Val Single submitter
p.Ile243Asn Single submitter
p.Ile268Val Single submitter
p.Ile429Thr Single submitter
p.Ile452Thr Single submitter
p.Ile59Met Single submitter
p.Ile68Val Single submitter
p.Leu179Val Single submitter
p.Leu204Met Single submitter
p.Leu470Val Single submitter
p.Leu84Ser Single submitter
p.Lys113Arg Single submitter
p.Lys221Arg Single submitter
p.Lys221Asn Single submitter
p.Lys300Arg Single submitter
p.Lys300Gln Single submitter
p.Met144Val Single submitter
p.Met272Ile Single submitter
p.Met327Ile Single submitter
p.Phe209Cys Single submitter
p.Phe225Ile Single submitter
p.Phe479Ile Single submitter
p.Phe480Cys Single submitter
p.Pro197Leu Single submitter
p.Pro21Leu Single submitter
p.Pro254Leu Single submitter
p.Pro259Arg Single submitter
p.Pro286His Single submitter
p.Pro292Leu Single submitter
p.Ser135Asn Single submitter
p.Ser194Gly Single submitter
p.Ser216Gly Single submitter
p.Ser234Gly Single submitter
p.Ser251Tyr Single submitter
p.Ser435Thr Single submitter
p.Thr178Met Single submitter
p.Thr250Ser Single submitter
p.Thr308Ile Single submitter
p.Thr473Met Single submitter
p.Trp101Cys Single submitter
p.Val106Ile Single submitter
p.Val161Ile Single submitter
p.Val316Ala Single submitter
p.Val352Met Single submitter