CHRDL2 — 56 ClinVar variants
All ClinVar germline CHRDL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Likely benign · 54 Uncertain significance
Full CHRDL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHRDL2 p.Ala173Thr Uncertain significance Single submitter
- CHRDL2 p.Ala205Thr Uncertain significance Single submitter
- CHRDL2 p.Ala215Val Uncertain significance Single submitter
- CHRDL2 p.Ala221Thr Uncertain significance Single submitter
- CHRDL2 p.Ala360Thr Uncertain significance Single submitter
- CHRDL2 p.Ala67Gly Uncertain significance Single submitter
- CHRDL2 p.Arg228His Uncertain significance Single submitter
- CHRDL2 p.Arg337Gln Uncertain significance Single submitter
- CHRDL2 p.Cys150Arg Uncertain significance Single submitter
- CHRDL2 p.Glu145Ala Uncertain significance Single submitter
- CHRDL2 p.Glu180Val Uncertain significance Single submitter
- CHRDL2 p.Glu283Gly Uncertain significance Single submitter
- CHRDL2 p.Glu404Lys Uncertain significance Single submitter
- CHRDL2 p.Gly103Val Uncertain significance Single submitter
- CHRDL2 p.Gly151Ser Uncertain significance Single submitter
- CHRDL2 p.Gly212Ala Uncertain significance Single submitter
- CHRDL2 p.His229Tyr Uncertain significance Single submitter
- CHRDL2 p.Ile148Val Uncertain significance Single submitter
- CHRDL2 p.Met117Val Uncertain significance Single submitter
- CHRDL2 p.Pro267Leu Uncertain significance Single submitter
- CHRDL2 p.Pro321Ser Uncertain significance Single submitter
- CHRDL2 p.Pro332Leu Uncertain significance Single submitter
- CHRDL2 p.Pro348Ala Uncertain significance Single submitter
- CHRDL2 p.Pro348Arg Uncertain significance Single submitter
- CHRDL2 p.Ser190Leu Uncertain significance Single submitter
- CHRDL2 p.Thr329Ser Uncertain significance Single submitter
- CHRDL2 p.Thr427Ser Uncertain significance Single submitter
- CHRDL2 p.Val340Ile Uncertain significance Single submitter
- CHRDL2 p.Val344Ile Uncertain significance Single submitter
- CHRDL2 p.Val409Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CHRDL2 p.Ala67Thr Uncertain significance Single submitter
- CHRDL2 p.Arg286Cys Uncertain significance Single submitter
- CHRDL2 p.Arg291His Uncertain significance Single submitter
- CHRDL2 p.Arg337Trp Uncertain significance Single submitter
- CHRDL2 p.Arg353Cys Uncertain significance Single submitter
- CHRDL2 p.Arg60His Uncertain significance Single submitter
- CHRDL2 p.Arg73His Uncertain significance Single submitter
- CHRDL2 p.Asp362Gly Uncertain significance Single submitter
- CHRDL2 p.Glu357Lys Uncertain significance Single submitter
- CHRDL2 p.Gly115Arg Uncertain significance Single submitter
- CHRDL2 p.Gly273Ser Uncertain significance Single submitter
- CHRDL2 p.Gly66Cys Uncertain significance Single submitter
- CHRDL2 p.His248Tyr Uncertain significance Single submitter
- CHRDL2 p.Leu50Met Uncertain significance Single submitter
- CHRDL2 p.Lys257Arg Uncertain significance Single submitter
- CHRDL2 p.Lys38Met Uncertain significance Single submitter
- CHRDL2 p.Pro135Ser Uncertain significance Single submitter
- CHRDL2 p.Pro93Thr Uncertain significance Single submitter
- CHRDL2 p.Ser361Leu Uncertain significance Single submitter
- CHRDL2 p.Thr258Met Uncertain significance Single submitter
- CHRDL2 p.Thr281Ala Uncertain significance Single submitter
All CHRDL2 variants
Likely benign 2
- p.Arg301His Single submitter
- p.Pro197Ser Single submitter
Uncertain significance 54
- c.*3A>G Single submitter
- p.Ala173Thr Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala67Gly Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg291His Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg337Trp Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asp362Gly Single submitter ⚠
- p.Cys150Arg Single submitter ⚠
- p.Glu145Ala Single submitter ⚠
- p.Glu180Val Single submitter ⚠
- p.Glu283Gly Single submitter ⚠
- p.Glu357Lys Single submitter ⚠
- p.Glu404Lys Single submitter ⚠
- p.Gly103Val Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly212Ala Single submitter ⚠
- p.Gly273Ser Single submitter ⚠
- p.Gly66Cys Single submitter ⚠
- p.His229Tyr Single submitter ⚠
- p.His248Tyr Single submitter ⚠
- p.Ile148Val Single submitter ⚠
- p.Leu399= Single submitter
- p.Leu50Met Single submitter ⚠
- p.Lys257Arg Single submitter ⚠
- p.Lys38Met Single submitter ⚠
- p.Met117Val Single submitter ⚠
- p.Phe396= Single submitter
- p.Pro135Ser Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro321Ser Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Pro348Ala Single submitter ⚠
- p.Pro348Arg Single submitter ⚠
- p.Pro93Thr Single submitter ⚠
- p.Ser190Leu Single submitter ⚠
- p.Ser361Leu Single submitter ⚠
- p.Thr258Met Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr329Ser Single submitter ⚠
- p.Thr427Ser Single submitter ⚠
- p.Val340Ile Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val409Ile Single submitter ⚠