CDS1 — 48 ClinVar variants
All ClinVar germline CDS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
3 Benign · 6 Likely benign · 39 Uncertain significance
Full CDS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDS1 p.Arg181His Uncertain significance Single submitter
- CDS1 p.Arg46Lys Uncertain significance Single submitter
- CDS1 p.Arg7Trp Uncertain significance Single submitter
- CDS1 p.Asp55Gly Uncertain significance Single submitter
- CDS1 p.Gln177His Uncertain significance Single submitter
- CDS1 p.Glu125Gly Uncertain significance Single submitter
- CDS1 p.Glu237Gly Uncertain significance Single submitter
- CDS1 p.Gly370Ala Uncertain significance Single submitter
- CDS1 p.Ile118Val Uncertain significance Single submitter
- CDS1 p.Leu235Pro Uncertain significance Single submitter
- CDS1 p.Leu298Ser Uncertain significance Single submitter
- CDS1 p.Pro140Leu Uncertain significance Single submitter
- CDS1 p.Pro336Ala Uncertain significance Single submitter
- CDS1 p.Pro351Thr Uncertain significance Single submitter
- CDS1 p.Pro63Leu Uncertain significance Single submitter
- CDS1 p.Thr287Ile Uncertain significance Single submitter
- CDS1 p.Trp141Cys Uncertain significance Single submitter
- CDS1 p.Tyr134Cys Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
-
CDS1 p.Ala407Ser
Uncertain significance
Single submitter
CDS1-related disorder
- CDS1 p.Arg7Gln Uncertain significance Single submitter
- CDS1 p.Asp38His Uncertain significance Single submitter
- CDS1 p.Gln302His Uncertain significance Single submitter
- CDS1 p.Gln428His Uncertain significance Single submitter
- CDS1 p.His124Asn Uncertain significance Single submitter
- CDS1 p.Ile103Phe Uncertain significance Single submitter
- CDS1 p.Ile104Val Uncertain significance Single submitter
- CDS1 p.Leu50Trp Uncertain significance Single submitter
- CDS1 p.Met397Thr Uncertain significance Single submitter
- CDS1 p.Phe337Ser Uncertain significance Single submitter
- CDS1 p.Pro19Leu Uncertain significance Single submitter
- CDS1 p.Pro421Ser Uncertain significance Single submitter
- CDS1 p.Pro435Ala Uncertain significance Single submitter
- CDS1 p.Pro435Leu Uncertain significance Single submitter
- CDS1 p.Pro59Leu Uncertain significance Single submitter
- CDS1 p.Ser18Trp Uncertain significance Single submitter
- CDS1 p.Ser299Cys Uncertain significance Single submitter
- CDS1 p.Ser356Gly Uncertain significance Single submitter
- CDS1 p.Ser52Phe Uncertain significance Single submitter
- CDS1 p.Thr408Ala Uncertain significance Single submitter
All CDS1 variants
Benign 3
- c.723-9T>A No assertion criteria CDS1-related disorder
- p.Phe317= No assertion criteria CDS1-related disorder
- p.Ser424Asn No assertion criteria CDS1-related disorder
Likely benign 6
- c.723-8A>T Single submitter
- c.1257-8A>G No assertion criteria CDS1-related disorder
- c.723-4dup No assertion criteria CDS1-related disorder
- c.811-5_811-3dup No assertion criteria CDS1-related disorder
- c.-8A>G No assertion criteria CDS1-related disorder
- p.Gly48Ala No assertion criteria CDS1-related disorder
Uncertain significance 39
- p.Ala407Ser Single submitter CDS1-related disorder ⚠
- p.Arg181His Single submitter ⚠
- p.Arg46Lys Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Asp38His Single submitter ⚠
- p.Asp55Gly Single submitter ⚠
- p.Gln177His Single submitter ⚠
- p.Gln302His Single submitter ⚠
- p.Gln428His Single submitter ⚠
- p.Glu125Gly Single submitter ⚠
- p.Glu237Gly Single submitter ⚠
- p.Gly370Ala Single submitter ⚠
- p.His124Asn Single submitter ⚠
- p.Ile103Phe Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Leu298Ser Single submitter ⚠
- p.Leu50Trp Single submitter ⚠
- p.Met397Thr Single submitter ⚠
- p.Phe337Ser Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro336Ala Single submitter ⚠
- p.Pro351Thr Single submitter ⚠
- p.Pro421Ser Single submitter ⚠
- p.Pro435Ala Single submitter ⚠
- p.Pro435Leu Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser18Trp Single submitter ⚠
- p.Ser299Cys Single submitter ⚠
- p.Ser356Gly Single submitter ⚠
- p.Ser52Phe Single submitter ⚠
- p.Thr287Ile Single submitter ⚠
- p.Thr408Ala Single submitter ⚠
- p.Trp141Cys Single submitter ⚠
- p.Tyr134Cys Single submitter ⚠