COL23A1 — 96 ClinVar variants
All ClinVar germline COL23A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
3 Likely benign · 93 Uncertain significance
Full COL23A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COL23A1 p.Ala18Glu Uncertain significance Single submitter
- COL23A1 p.Ala443Thr Uncertain significance Single submitter
- COL23A1 p.Ala66Val Uncertain significance Single submitter
- COL23A1 p.Ala83Ser Uncertain significance Single submitter
- COL23A1 p.Ala83Val Uncertain significance Single submitter
- COL23A1 p.Arg126His Uncertain significance Single submitter
- COL23A1 p.Arg143Gln Uncertain significance Single submitter
- COL23A1 p.Arg174Gln Uncertain significance Single submitter
- COL23A1 p.Arg294Gln Uncertain significance Single submitter
- COL23A1 p.Arg486Gln Uncertain significance Single submitter
- COL23A1 p.Arg495Cys Uncertain significance Single submitter
- COL23A1 p.Arg501Gln Uncertain significance Single submitter
- COL23A1 p.Asp144Gly Uncertain significance Single submitter
- COL23A1 p.Asp200Asn Uncertain significance Single submitter
- COL23A1 p.Asp222Gly Uncertain significance Single submitter
- COL23A1 p.Asp435Gly Uncertain significance Single submitter
- COL23A1 p.Cys51Arg Uncertain significance Single submitter
- COL23A1 p.Cys51Trp Uncertain significance Single submitter
- COL23A1 p.Glu115Lys Uncertain significance Single submitter
- COL23A1 p.Glu376Lys Uncertain significance Single submitter
- COL23A1 p.Glu5Lys Uncertain significance Single submitter
- COL23A1 p.Glu89Gln Uncertain significance Single submitter
- COL23A1 p.Glu98Gln Uncertain significance Single submitter
- COL23A1 p.Gly127Ser Uncertain significance Single submitter
- COL23A1 p.Gly130Glu Uncertain significance Single submitter
- COL23A1 p.Gly133Ser Uncertain significance Single submitter
- COL23A1 p.Gly145Arg Uncertain significance Single submitter
- COL23A1 p.Gly169Arg Uncertain significance Single submitter
- COL23A1 p.Gly21Arg Uncertain significance Single submitter
- COL23A1 p.Gly280Arg Uncertain significance Single submitter
- COL23A1 p.Gly295Val Uncertain significance Single submitter
- COL23A1 p.Gly324Arg Uncertain significance Single submitter
- COL23A1 p.Gly348Arg Uncertain significance Single submitter
- COL23A1 p.Gly348Glu Uncertain significance Single submitter
- COL23A1 p.Gly357Glu Uncertain significance Single submitter
- COL23A1 p.Gly390Val Uncertain significance Single submitter
- COL23A1 p.Gly439Arg Uncertain significance Single submitter
- COL23A1 p.Gly475Arg Uncertain significance Single submitter
- COL23A1 p.Gly79Arg Uncertain significance Single submitter
- COL23A1 p.Gly9Ala Uncertain significance Single submitter
- COL23A1 p.Ile309Met Uncertain significance Single submitter
- COL23A1 p.Ile349Ser Uncertain significance Single submitter
- COL23A1 p.Ile408Met Uncertain significance Single submitter
- COL23A1 p.Ile462Thr Uncertain significance Single submitter
- COL23A1 p.Leu299Arg Uncertain significance Single submitter
- COL23A1 p.Leu42Val Uncertain significance Single submitter
- COL23A1 p.Leu52Val Uncertain significance Single submitter
- COL23A1 p.Lys203Arg Uncertain significance Single submitter
- COL23A1 p.Lys242Arg Uncertain significance Single submitter
- COL23A1 p.Pro113Ala Uncertain significance Single submitter
- COL23A1 p.Pro113Leu Uncertain significance Single submitter
- COL23A1 p.Pro137Thr Uncertain significance Single submitter
- COL23A1 p.Pro215Leu Uncertain significance Single submitter
- COL23A1 p.Pro240Thr Uncertain significance Single submitter
- COL23A1 p.Pro249Ser Uncertain significance Single submitter
- COL23A1 p.Pro252Ser Uncertain significance Single submitter
- COL23A1 p.Pro365Leu Uncertain significance Single submitter
- COL23A1 p.Pro422Leu Uncertain significance Single submitter
- COL23A1 p.Pro80Ser Uncertain significance Single submitter
- COL23A1 p.Pro81Ser Uncertain significance Single submitter
- COL23A1 p.Pro90Leu Uncertain significance Single submitter
- COL23A1 p.Ser263Ile Uncertain significance Single submitter
- COL23A1 p.Ser403Arg Uncertain significance Single submitter
- COL23A1 p.Thr287Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- COL23A1 p.Arg174Trp Uncertain significance Single submitter
- COL23A1 p.Arg492Gly Uncertain significance Single submitter
- COL23A1 p.Arg495His Uncertain significance Single submitter
- COL23A1 p.Arg506Trp Uncertain significance Single submitter
- COL23A1 p.Arg77Cys Uncertain significance Single submitter
- COL23A1 p.Arg94Ser Uncertain significance Single submitter
- COL23A1 p.Asp288Gly Uncertain significance Single submitter
- COL23A1 p.Asp361His Uncertain significance Single submitter
- COL23A1 p.Cys40Phe Uncertain significance Single submitter
- COL23A1 p.Gly21Asp Uncertain significance Single submitter
- COL23A1 p.Gly223Ser Uncertain significance Single submitter
- COL23A1 p.Gly274Ser Uncertain significance Single submitter
- COL23A1 p.Gly381Ser Uncertain significance Single submitter
- COL23A1 p.Gly387Ser Uncertain significance Single submitter
- COL23A1 p.Lys279Gln Uncertain significance Single submitter
- COL23A1 p.Lys438Glu Uncertain significance Single submitter
- COL23A1 p.Lys540Glu Uncertain significance Single submitter
- COL23A1 p.Pro147Leu Uncertain significance Single submitter
- COL23A1 p.Pro188Thr Uncertain significance Single submitter
- COL23A1 p.Pro197Arg Uncertain significance Single submitter
- COL23A1 p.Pro261Leu Uncertain significance Single submitter
- COL23A1 p.Pro335Arg Uncertain significance Single submitter
- COL23A1 p.Pro383Leu Uncertain significance Single submitter
- COL23A1 p.Pro417Thr Uncertain significance Single submitter
- COL23A1 p.Pro459Leu Uncertain significance Single submitter
- COL23A1 p.Pro516Leu Uncertain significance Single submitter
All COL23A1 variants
Uncertain significance 93
- p.Ala18Glu Single submitter ⚠
- p.Ala443Thr Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala83Ser Single submitter ⚠
- p.Ala83Val Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg486Gln Single submitter ⚠
- p.Arg492Gly Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Arg495His Single submitter ⚠
- p.Arg501Gln Single submitter ⚠
- p.Arg506Trp Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg94Ser Single submitter ⚠
- p.Asp144Gly Single submitter ⚠
- p.Asp200Asn Single submitter ⚠
- p.Asp222Gly Single submitter ⚠
- p.Asp288Gly Single submitter ⚠
- p.Asp310Asn Single submitter
- p.Asp361His Single submitter ⚠
- p.Asp435Gly Single submitter ⚠
- p.Cys40Phe Single submitter ⚠
- p.Cys51Arg Single submitter ⚠
- p.Cys51Trp Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Glu89Gln Single submitter ⚠
- p.Glu98Gln Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Gly130Glu Single submitter ⚠
- p.Gly133Ser Single submitter ⚠
- p.Gly145Arg Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly21Asp Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly274Ser Single submitter ⚠
- p.Gly280Arg Single submitter ⚠
- p.Gly295Val Single submitter ⚠
- p.Gly324Arg Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly348Glu Single submitter ⚠
- p.Gly357Glu Single submitter ⚠
- p.Gly381Ser Single submitter ⚠
- p.Gly387Ser Single submitter ⚠
- p.Gly390Val Single submitter ⚠
- p.Gly439Arg Single submitter ⚠
- p.Gly475Arg Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.Gly9Ala Single submitter ⚠
- p.Ile309Met Single submitter ⚠
- p.Ile349Ser Single submitter ⚠
- p.Ile408Met Single submitter ⚠
- p.Ile462Thr Single submitter ⚠
- p.Leu299Arg Single submitter ⚠
- p.Leu42Val Single submitter ⚠
- p.Leu52Val Single submitter ⚠
- p.Lys203Arg Single submitter ⚠
- p.Lys242Arg Single submitter ⚠
- p.Lys279Gln Single submitter ⚠
- p.Lys438Glu Single submitter ⚠
- p.Lys498Gln Single submitter
- p.Lys540Glu Single submitter ⚠
- p.Pro113Ala Single submitter ⚠
- p.Pro113Leu Single submitter ⚠
- p.Pro137Thr Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro188Thr Single submitter ⚠
- p.Pro197Arg Single submitter ⚠
- p.Pro215Leu Single submitter ⚠
- p.Pro240Thr Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro252Ser Single submitter ⚠
- p.Pro261Leu Single submitter ⚠
- p.Pro335Arg Single submitter ⚠
- p.Pro365Leu Single submitter ⚠
- p.Pro383Leu Single submitter ⚠
- p.Pro417Thr Single submitter ⚠
- p.Pro422Leu Single submitter ⚠
- p.Pro459Leu Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser263Ile Single submitter ⚠
- p.Ser403Arg Single submitter ⚠
- p.Thr287Met Single submitter ⚠
- p.Val65Met Single submitter