CSDC2 — 21 ClinVar variants
All ClinVar germline CSDC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 20 Uncertain significance
Full CSDC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSDC2 p.Arg33Ser Uncertain significance Single submitter
- CSDC2 p.Arg37Gln Uncertain significance Single submitter
- CSDC2 p.Arg43Gln Uncertain significance Single submitter
- CSDC2 p.Arg55Thr Uncertain significance Single submitter
- CSDC2 p.Arg78Cys Uncertain significance Single submitter
- CSDC2 p.Asp111Gly Uncertain significance Single submitter
- CSDC2 p.Glu30Lys Uncertain significance Single submitter
- CSDC2 p.Gly38Asp Uncertain significance Single submitter
- CSDC2 p.His82Tyr Uncertain significance Single submitter
- CSDC2 p.Lys116Gln Uncertain significance Single submitter
- CSDC2 p.Lys18Glu Uncertain significance Single submitter
- CSDC2 p.Pro13Leu Uncertain significance Single submitter
- CSDC2 p.Ser99Phe Uncertain significance Single submitter
- CSDC2 p.Val72Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CSDC2 p.Arg43Trp Uncertain significance Single submitter
- CSDC2 p.Glu88Ala Uncertain significance Single submitter
- CSDC2 p.Lys52Glu Uncertain significance Single submitter
- CSDC2 p.Pro50Ala Uncertain significance Single submitter
- CSDC2 p.Thr141Pro Uncertain significance Single submitter
- CSDC2 p.Thr6Met Uncertain significance Single submitter
All CSDC2 variants
Likely benign 1
- p.Gly39Ser Single submitter
Uncertain significance 20
- p.Arg33Ser Single submitter ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Arg55Thr Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Asp111Gly Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu88Ala Single submitter ⚠
- p.Gly38Asp Single submitter ⚠
- p.His82Tyr Single submitter ⚠
- p.Lys116Gln Single submitter ⚠
- p.Lys18Glu Single submitter ⚠
- p.Lys52Glu Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro50Ala Single submitter ⚠
- p.Ser99Phe Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr6Met Single submitter ⚠
- p.Val72Ile Single submitter ⚠