CHODL — 29 ClinVar variants
All ClinVar germline CHODL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Likely benign · 28 Uncertain significance
Full CHODL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHODL p.Ala11Val Uncertain significance Single submitter
- CHODL p.Ala188Val Uncertain significance Single submitter
- CHODL p.Ala43Thr Uncertain significance Single submitter
- CHODL p.Ala60Ser Uncertain significance Single submitter
- CHODL p.Ala75Ser Uncertain significance Single submitter
- CHODL p.Asn154Ser Uncertain significance Single submitter
- CHODL p.Gly102Glu Uncertain significance Single submitter
- CHODL p.Gly16Val Uncertain significance Single submitter
- CHODL p.Gly18Arg Uncertain significance Single submitter
- CHODL p.His203Arg Uncertain significance Single submitter
- CHODL p.Ile222Leu Uncertain significance Single submitter
- CHODL p.Pro116Leu Uncertain significance Single submitter
- CHODL p.Pro151Thr Uncertain significance Single submitter
- CHODL p.Pro155Leu Uncertain significance Single submitter
- CHODL p.Pro90His Uncertain significance Single submitter
- CHODL p.Ser138Tyr Uncertain significance Single submitter
- CHODL p.Ser253Asn Uncertain significance Single submitter
- CHODL p.Thr265Ala Uncertain significance Single submitter
- CHODL p.Val5Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CHODL p.Ala153Val Uncertain significance Single submitter
- CHODL p.Arg51Gln Uncertain significance Single submitter
- CHODL p.Gly140Arg Uncertain significance Single submitter
- CHODL p.Leu13Gln Uncertain significance Single submitter
- CHODL p.Lys247Ile Uncertain significance Single submitter
- CHODL p.Met271Ile Uncertain significance Single submitter
- CHODL p.Phe240Leu Uncertain significance Single submitter
- CHODL p.Pro226Thr Uncertain significance Single submitter
All CHODL variants
Likely benign 1
- p.Arg130= Single submitter
Uncertain significance 28
- p.Ala11Val Single submitter ⚠
- p.Ala153Val Single submitter ⚠
- p.Ala188Val Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala60Ser Single submitter ⚠
- p.Ala75Ser Single submitter ⚠
- p.Arg51Gln Single submitter ⚠
- p.Asn154Ser Single submitter ⚠
- p.Gly102Glu Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Gly16Val Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.His203Arg Single submitter ⚠
- p.Ile222Leu Single submitter ⚠
- p.Leu13Gln Single submitter ⚠
- p.Lys247Ile Single submitter ⚠
- p.Met271Ile Single submitter ⚠
- p.Phe240Leu Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro151Thr Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro226Thr Single submitter ⚠
- p.Pro90His Single submitter ⚠
- p.Ser122Cys Single submitter
- p.Ser138Tyr Single submitter ⚠
- p.Ser253Asn Single submitter ⚠
- p.Thr265Ala Single submitter ⚠
- p.Val5Phe Single submitter ⚠