CTHRC1 — 38 ClinVar variants
All ClinVar germline CTHRC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Pathogenic · 37 Uncertain significance
Full CTHRC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CTHRC1 p.Gln44Pro
Pathogenic
No assertion criteria
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTHRC1 p.Ala40Thr Uncertain significance Single submitter
- CTHRC1 p.Arg146Gln Uncertain significance Single submitter
- CTHRC1 p.Arg156Cys Uncertain significance Single submitter
- CTHRC1 p.Arg193Cys Uncertain significance Single submitter
- CTHRC1 p.Arg2Gly Uncertain significance Single submitter
- CTHRC1 p.Arg2Leu Uncertain significance Single submitter
- CTHRC1 p.Arg45Lys Uncertain significance Single submitter
- CTHRC1 p.Arg83Trp Uncertain significance Single submitter
- CTHRC1 p.Asp84Asn Uncertain significance Single submitter
- CTHRC1 p.Cys109Phe Uncertain significance Single submitter
- CTHRC1 p.Cys109Tyr Uncertain significance Single submitter
- CTHRC1 p.Gln11Arg Uncertain significance Single submitter
- CTHRC1 p.Gln44Arg Uncertain significance Single submitter
- CTHRC1 p.Gln44His Uncertain significance Single submitter
- CTHRC1 p.Glu99Lys Uncertain significance Single submitter
- CTHRC1 p.Gly181Glu Uncertain significance Single submitter
- CTHRC1 p.Ile213Met Uncertain significance Single submitter
- CTHRC1 p.Ile238Val Uncertain significance Single submitter
- CTHRC1 p.Lys35Arg Uncertain significance Single submitter
- CTHRC1 p.Phe141Cys Uncertain significance Single submitter
- CTHRC1 p.Pro6Ser Uncertain significance Single submitter
- CTHRC1 p.Ser142Arg Uncertain significance Single submitter
- CTHRC1 p.Ser29Thr Uncertain significance Single submitter
- CTHRC1 p.Ser97Arg Uncertain significance Single submitter
- CTHRC1 p.Tyr106Cys Uncertain significance Single submitter
- CTHRC1 p.Arg156His Uncertain significance No assertion criteria
Predictors split 11
The independent predictors disagree with each other — read with care.
- CTHRC1 p.Ala124Val Uncertain significance Single submitter
- CTHRC1 p.Ala174Val Uncertain significance Single submitter
- CTHRC1 p.Arg65Gln Uncertain significance Single submitter
- CTHRC1 p.Arg83Gln Uncertain significance Single submitter
- CTHRC1 p.Leu137Val Uncertain significance Single submitter
- CTHRC1 p.Leu21Val Uncertain significance Single submitter
- CTHRC1 p.Lys35Glu Uncertain significance Single submitter
- CTHRC1 p.Lys39Asn Uncertain significance Single submitter
- CTHRC1 p.Ser142Asn Uncertain significance Single submitter
- CTHRC1 p.Ser196Pro Uncertain significance Single submitter
- CTHRC1 p.Thr127Lys Uncertain significance Single submitter
All CTHRC1 variants
Pathogenic 1
- p.Gln44Pro No assertion criteria BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA ⚠
Uncertain significance 37
- p.Ala124Val Single submitter ⚠
- p.Ala174Val Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg2Gly Single submitter ⚠
- p.Arg2Leu Single submitter ⚠
- p.Arg45Lys Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Cys109Phe Single submitter ⚠
- p.Cys109Tyr Single submitter ⚠
- p.Gln11Arg Single submitter ⚠
- p.Gln44Arg Single submitter ⚠
- p.Gln44His Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly181Glu Single submitter ⚠
- p.Ile213Met Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Leu137Val Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Lys35Glu Single submitter ⚠
- p.Lys39Asn Single submitter ⚠
- p.Phe141Cys Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Ser142Arg Single submitter ⚠
- p.Ser142Asn Single submitter ⚠
- p.Ser196Pro Single submitter ⚠
- p.Ser29Thr Single submitter ⚠
- p.Ser97Arg Single submitter ⚠
- p.Thr127Lys Single submitter ⚠
- p.Tyr106Cys Single submitter ⚠
- p.Arg156His No assertion criteria ⚠