CUZD1 — 72 ClinVar variants
All ClinVar germline CUZD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Benign · 5 Likely benign · 65 Uncertain significance
Full CUZD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CUZD1 p.Ala19Val Uncertain significance Single submitter
- CUZD1 p.Ala213Ser Uncertain significance Single submitter
- CUZD1 p.Ala24Glu Uncertain significance Single submitter
- CUZD1 p.Ala293Asp Uncertain significance Single submitter
- CUZD1 p.Ala39Pro Uncertain significance Single submitter
- CUZD1 p.Ala47Ser Uncertain significance Single submitter
- CUZD1 p.Ala546Glu Uncertain significance Single submitter
- CUZD1 p.Arg256Trp Uncertain significance Single submitter
- CUZD1 p.Arg6Ser Uncertain significance Single submitter
- CUZD1 p.Asn314Ser Uncertain significance Single submitter
- CUZD1 p.Asn549His Uncertain significance Single submitter
- CUZD1 p.Asn594Ser Uncertain significance Single submitter
- CUZD1 p.Asp159Gly Uncertain significance Single submitter
- CUZD1 p.Asp417Tyr Uncertain significance Single submitter
- CUZD1 p.Cys442Arg Uncertain significance Single submitter
- CUZD1 p.Gln206Pro Uncertain significance Single submitter
- CUZD1 p.Gln51Lys Uncertain significance Single submitter
- CUZD1 p.Gln605Arg Uncertain significance Single submitter
- CUZD1 p.Gln605His Uncertain significance Single submitter
- CUZD1 p.Glu237Lys Uncertain significance Single submitter
- CUZD1 p.Glu411Gln Uncertain significance Single submitter
- CUZD1 p.Glu43Lys Uncertain significance Single submitter
- CUZD1 p.Gly104Glu Uncertain significance Single submitter
- CUZD1 p.Gly217Val Uncertain significance Single submitter
- CUZD1 p.Gly38Asp Uncertain significance Single submitter
- CUZD1 p.His508Tyr Uncertain significance Single submitter
- CUZD1 p.Ile203Arg Uncertain significance Single submitter
- CUZD1 p.Ile328Val Uncertain significance Single submitter
- CUZD1 p.Ile587Val Uncertain significance Single submitter
- CUZD1 p.Leu422Arg Uncertain significance Single submitter
- CUZD1 p.Lys459Asn Uncertain significance Single submitter
- CUZD1 p.Phe209Ile Uncertain significance Single submitter
- CUZD1 p.Pro152Leu Uncertain significance Single submitter
- CUZD1 p.Pro173Leu Uncertain significance Single submitter
- CUZD1 p.Pro218Arg Uncertain significance Single submitter
- CUZD1 p.Pro472Ser Uncertain significance Single submitter
- CUZD1 p.Pro81Leu Uncertain significance Single submitter
- CUZD1 p.Pro9Leu Uncertain significance Single submitter
- CUZD1 p.Ser274Tyr Uncertain significance Single submitter
- CUZD1 p.Ser278Phe Uncertain significance Single submitter
- CUZD1 p.Ser313Thr Uncertain significance Single submitter
- CUZD1 p.Ser347Pro Uncertain significance Single submitter
- CUZD1 p.Ser568Asn Uncertain significance Single submitter
- CUZD1 p.Thr220Ala Uncertain significance Single submitter
- CUZD1 p.Thr22Lys Uncertain significance Single submitter
- CUZD1 p.Thr272Pro Uncertain significance Single submitter
- CUZD1 p.Thr96Ile Uncertain significance Single submitter
- CUZD1 p.Trp182Leu Uncertain significance Single submitter
- CUZD1 p.Tyr215Cys Uncertain significance Single submitter
- CUZD1 p.Val128Ala Uncertain significance Single submitter
- CUZD1 p.Val284Ile Uncertain significance Single submitter
- CUZD1 p.Val373Ala Uncertain significance Single submitter
- CUZD1 p.Val373Met Uncertain significance Single submitter
- CUZD1 p.Val470Met Uncertain significance Single submitter
- CUZD1 p.Val500Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CUZD1 p.Leu435Phe Uncertain significance Single submitter
- CUZD1 p.Met367Val Uncertain significance Single submitter
- CUZD1 p.Phe200Leu Uncertain significance Single submitter
- CUZD1 p.Pro306Arg Uncertain significance Single submitter
- CUZD1 p.Pro446His Uncertain significance Single submitter
- CUZD1 p.Ser242Pro Uncertain significance Single submitter
- CUZD1 p.Ser31Cys Uncertain significance Single submitter
- CUZD1 p.Ser404Pro Uncertain significance Single submitter
- CUZD1 p.Thr588Pro Uncertain significance Single submitter
All CUZD1 variants
Benign 2
- c.818-10_818-9del Single submitter
- c.818-9del Single submitter
Likely benign 5
- p.Ala597Thr Single submitter
- p.Ile376Met Single submitter
- p.Val115= Single submitter
- p.Val320Ile Single submitter
- p.Val77Ile Single submitter
Uncertain significance 65
- p.Ala19Val Single submitter ⚠
- p.Ala213Ser Single submitter ⚠
- p.Ala24Glu Single submitter ⚠
- p.Ala293Asp Single submitter ⚠
- p.Ala39Pro Single submitter ⚠
- p.Ala47Ser Single submitter ⚠
- p.Ala546Glu Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg6Ser Single submitter ⚠
- p.Asn314Ser Single submitter ⚠
- p.Asn549His Single submitter ⚠
- p.Asn594Ser Single submitter ⚠
- p.Asp159Gly Single submitter ⚠
- p.Asp417Tyr Single submitter ⚠
- p.Cys442Arg Single submitter ⚠
- p.Gln206Pro Single submitter ⚠
- p.Gln51Lys Single submitter ⚠
- p.Gln605Arg Single submitter ⚠
- p.Gln605His Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu411Gln Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Gly104Glu Single submitter ⚠
- p.Gly217Val Single submitter ⚠
- p.Gly38Asp Single submitter ⚠
- p.His508Tyr Single submitter ⚠
- p.Ile203Arg Single submitter ⚠
- p.Ile328Val Single submitter ⚠
- p.Ile587Val Single submitter ⚠
- p.Leu422Arg Single submitter ⚠
- p.Leu435Phe Single submitter ⚠
- p.Lys459Asn Single submitter ⚠
- p.Met367Val Single submitter ⚠
- p.Met397Ile Single submitter
- p.Phe200Leu Single submitter ⚠
- p.Phe209Ile Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro173Leu Single submitter ⚠
- p.Pro218Arg Single submitter ⚠
- p.Pro306Arg Single submitter ⚠
- p.Pro446His Single submitter ⚠
- p.Pro472Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser242Pro Single submitter ⚠
- p.Ser274Tyr Single submitter ⚠
- p.Ser278Phe Single submitter ⚠
- p.Ser313Thr Single submitter ⚠
- p.Ser31Cys Single submitter ⚠
- p.Ser347Pro Single submitter ⚠
- p.Ser404Pro Single submitter ⚠
- p.Ser568Asn Single submitter ⚠
- p.Thr220Ala Single submitter ⚠
- p.Thr22Lys Single submitter ⚠
- p.Thr272Pro Single submitter ⚠
- p.Thr588Pro Single submitter ⚠
- p.Thr96Ile Single submitter ⚠
- p.Trp182Leu Single submitter ⚠
- p.Tyr215Cys Single submitter ⚠
- p.Val128Ala Single submitter ⚠
- p.Val284Ile Single submitter ⚠
- p.Val373Ala Single submitter ⚠
- p.Val373Met Single submitter ⚠
- p.Val470Met Single submitter ⚠
- p.Val500Gly Single submitter ⚠