CRYZ — 48 ClinVar variants
All ClinVar germline CRYZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
4 Benign · 5 Likely benign · 39 Uncertain significance
Full CRYZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRYZ p.Arg138Gly Uncertain significance Single submitter
- CRYZ p.Arg55Cys Uncertain significance Single submitter
- CRYZ p.Arg55His Uncertain significance Single submitter
- CRYZ p.Arg92Gly Uncertain significance Single submitter
- CRYZ p.Asp207Glu Uncertain significance Single submitter
- CRYZ p.Asp72Gly Uncertain significance Single submitter
- CRYZ p.Asp72His Uncertain significance Single submitter
- CRYZ p.Asp72Val Uncertain significance Single submitter
- CRYZ p.Gly173Val Uncertain significance Single submitter
- CRYZ p.Gly289Arg Uncertain significance Single submitter
- CRYZ p.His239Arg Uncertain significance Single submitter
- CRYZ p.Ile218Ser Uncertain significance Single submitter
- CRYZ p.Ile244Val Uncertain significance Single submitter
- CRYZ p.Leu174Val Uncertain significance Single submitter
- CRYZ p.Leu230Arg Uncertain significance Single submitter
- CRYZ p.Leu237Pro Uncertain significance Single submitter
- CRYZ p.Lys262Arg Uncertain significance Single submitter
- CRYZ p.Pro63Ser Uncertain significance Single submitter
- CRYZ p.Ser85Thr Uncertain significance Single submitter
- CRYZ p.Thr95Ser Uncertain significance Single submitter
- CRYZ p.Val154Phe Uncertain significance Single submitter
- CRYZ p.Val161Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CRYZ p.Glu183Lys Benign Multiple submitters
- CRYZ p.Ala139Thr Uncertain significance Single submitter
- CRYZ p.Ala148Val Uncertain significance Single submitter
- CRYZ p.Ala164Thr Uncertain significance Single submitter
- CRYZ p.Ala2Pro Uncertain significance Single submitter
- CRYZ p.Arg138Gln Uncertain significance Single submitter
- CRYZ p.Arg242Gln Uncertain significance Single submitter
- CRYZ p.Asn199Asp Uncertain significance Single submitter
- CRYZ p.Glu306Gln Uncertain significance Single submitter
- CRYZ p.His43Leu Uncertain significance Single submitter
- CRYZ p.Ile206Thr Uncertain significance Single submitter
- CRYZ p.Ile220Thr Uncertain significance Single submitter
- CRYZ p.Leu327Ile Uncertain significance Single submitter
- CRYZ p.Pro118Arg Uncertain significance Single submitter
- CRYZ p.Ser97Thr Uncertain significance Single submitter
- CRYZ p.Thr98Met Uncertain significance Single submitter
- CRYZ p.Val114Ile Uncertain significance Single submitter
-
CRYZ p.Gln280Arg
Likely benign
No assertion criteria
CRYZ-related disorder
All CRYZ variants
Benign 4
- p.Glu183Lys Multiple submitters ⚠
- p.Leu305= Single submitter
- p.Glu253= No assertion criteria CRYZ-related disorder
- p.Tyr205= No assertion criteria CRYZ-related disorder
Likely benign 5
- c.265-1G>A Multiple submitters
- c.732+1G>A Single submitter
- p.Gln280Arg No assertion criteria CRYZ-related disorder ⚠
- p.Gly289= No assertion criteria CRYZ-related disorder
- p.Ile40= No assertion criteria CRYZ-related disorder
Uncertain significance 39
- p.Ala139Thr Single submitter ⚠
- p.Ala148Val Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala2Pro Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg138Gly Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Asn199Asp Single submitter ⚠
- p.Asp207Glu Single submitter ⚠
- p.Asp72Gly Single submitter ⚠
- p.Asp72His Single submitter ⚠
- p.Asp72Val Single submitter ⚠
- p.Glu306Gln Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly289Arg Single submitter ⚠
- p.His239Arg Single submitter ⚠
- p.His43Leu Single submitter ⚠
- p.Ile206Thr Single submitter ⚠
- p.Ile218Ser Single submitter ⚠
- p.Ile220Thr Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu230Arg Single submitter ⚠
- p.Leu237Pro Single submitter ⚠
- p.Leu327Ile Single submitter ⚠
- p.Lys262Arg Single submitter ⚠
- p.Met1Leu Single submitter
- p.Pro118Arg Single submitter ⚠
- p.Pro63Ser Single submitter ⚠
- p.Ser85Thr Single submitter ⚠
- p.Ser97Thr Single submitter ⚠
- p.Thr95Ser Single submitter ⚠
- p.Thr98Met Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val154Phe Single submitter ⚠
- p.Val161Ala Single submitter ⚠