CHADL — 153 ClinVar variants
All ClinVar germline CHADL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
10 Likely benign · 143 Uncertain significance
Full CHADL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHADL p.Ala169Ser Uncertain significance Single submitter
- CHADL p.Ala175Thr Uncertain significance Single submitter
- CHADL p.Ala220Asp Uncertain significance Single submitter
- CHADL p.Ala233Thr Uncertain significance Single submitter
- CHADL p.Ala28Val Uncertain significance Single submitter
- CHADL p.Ala30Thr Uncertain significance Single submitter
- CHADL p.Ala326Pro Uncertain significance Single submitter
- CHADL p.Ala361Val Uncertain significance Single submitter
- CHADL p.Ala462Val Uncertain significance Single submitter
- CHADL p.Ala519Gly Uncertain significance Single submitter
- CHADL p.Ala716Val Uncertain significance Single submitter
- CHADL p.Ala730Thr Uncertain significance Single submitter
- CHADL p.Ala735Pro Uncertain significance Single submitter
- CHADL p.Arg150Gly Uncertain significance Single submitter
- CHADL p.Arg210Gln Uncertain significance Single submitter
- CHADL p.Arg210Trp Uncertain significance Single submitter
- CHADL p.Arg234Gly Uncertain significance Single submitter
- CHADL p.Arg234His Uncertain significance Single submitter
- CHADL p.Arg306Leu Uncertain significance Single submitter
- CHADL p.Arg351Gln Uncertain significance Single submitter
- CHADL p.Arg356Cys Uncertain significance Single submitter
- CHADL p.Arg377His Uncertain significance Single submitter
- CHADL p.Arg49Gln Uncertain significance Single submitter
- CHADL p.Arg556Gly Uncertain significance Single submitter
- CHADL p.Arg556His Uncertain significance Single submitter
- CHADL p.Arg556Ser Uncertain significance Single submitter
- CHADL p.Arg569Gln Uncertain significance Single submitter
- CHADL p.Arg66Gln Uncertain significance Single submitter
- CHADL p.Arg696Leu Uncertain significance Single submitter
- CHADL p.Arg708His Uncertain significance Single submitter
- CHADL p.Arg732Gln Uncertain significance Single submitter
- CHADL p.Arg737Ser Uncertain significance Single submitter
- CHADL p.Arg761His Uncertain significance Single submitter
- CHADL p.Arg761Leu Uncertain significance Single submitter
- CHADL p.Asn116Ser Uncertain significance Single submitter
- CHADL p.Asn216Lys Uncertain significance Single submitter
- CHADL p.Asn310Lys Uncertain significance Single submitter
- CHADL p.Asn52Ser Uncertain significance Single submitter
- CHADL p.Asn603Ser Uncertain significance Single submitter
- CHADL p.Asp671Asn Uncertain significance Single submitter
- CHADL p.Asp671Tyr Uncertain significance Single submitter
- CHADL p.Asp753Glu Uncertain significance Single submitter
- CHADL p.Cys336Ser Uncertain significance Single submitter
- CHADL p.Gln228His Uncertain significance Single submitter
- CHADL p.Gln297Arg Uncertain significance Single submitter
- CHADL p.Gln35Arg Uncertain significance Single submitter
- CHADL p.Gln599His Uncertain significance Single submitter
- CHADL p.Glu103Lys Uncertain significance Single submitter
- CHADL p.Glu124Gln Uncertain significance Single submitter
- CHADL p.Glu258Lys Uncertain significance Single submitter
- CHADL p.Glu323Val Uncertain significance Single submitter
- CHADL p.Glu389Gly Uncertain significance Single submitter
- CHADL p.Glu758Lys Uncertain significance Single submitter
- CHADL p.Gly375Arg Uncertain significance Single submitter
- CHADL p.Gly449Asp Uncertain significance Single submitter
- CHADL p.Gly587Glu Uncertain significance Single submitter
- CHADL p.Gly611Arg Uncertain significance Single submitter
- CHADL p.Gly692Arg Uncertain significance Single submitter
- CHADL p.Gly698Glu Uncertain significance Single submitter
- CHADL p.His281Arg Uncertain significance Single submitter
- CHADL p.His90Gln Uncertain significance Single submitter
- CHADL p.Ile476Thr Uncertain significance Single submitter
- CHADL p.Leu160Pro Uncertain significance Single submitter
- CHADL p.Leu170Val Uncertain significance Single submitter
- CHADL p.Leu211Phe Uncertain significance Single submitter
- CHADL p.Leu464Pro Uncertain significance Single submitter
- CHADL p.Leu469Gln Uncertain significance Single submitter
- CHADL p.Leu53Ile Uncertain significance Single submitter
- CHADL p.Leu53Phe Uncertain significance Single submitter
- CHADL p.Leu600Phe Uncertain significance Single submitter
- CHADL p.Leu63Val Uncertain significance Single submitter
- CHADL p.Leu91Pro Uncertain significance Single submitter
- CHADL p.Phe638Ser Uncertain significance Single submitter
- CHADL p.Pro11Leu Uncertain significance Single submitter
- CHADL p.Pro174Leu Uncertain significance Single submitter
- CHADL p.Pro224Thr Uncertain significance Single submitter
- CHADL p.Pro24Leu Uncertain significance Single submitter
- CHADL p.Pro295Gln Uncertain significance Single submitter
- CHADL p.Pro379Arg Uncertain significance Single submitter
- CHADL p.Pro379Leu Uncertain significance Single submitter
- CHADL p.Pro383Arg Uncertain significance Single submitter
- CHADL p.Pro387Ser Uncertain significance Single submitter
- CHADL p.Pro395Leu Uncertain significance Single submitter
- CHADL p.Pro404Ala Uncertain significance Single submitter
- CHADL p.Pro420Thr Uncertain significance Single submitter
- CHADL p.Pro593Arg Uncertain significance Single submitter
- CHADL p.Pro744Ala Uncertain significance Single submitter
- CHADL p.Ser332Thr Uncertain significance Single submitter
- CHADL p.Ser406Phe Uncertain significance Single submitter
- CHADL p.Ser439Trp Uncertain significance Single submitter
- CHADL p.Ser489Thr Uncertain significance Single submitter
- CHADL p.Ser639Leu Uncertain significance Single submitter
- CHADL p.Val101Met Uncertain significance Single submitter
- CHADL p.Val46Ala Uncertain significance Single submitter
- CHADL p.Val550Phe Uncertain significance Single submitter
- CHADL p.Val584Gly Uncertain significance Single submitter
- CHADL p.Val98Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- CHADL p.Ala105Thr Uncertain significance Single submitter
- CHADL p.Ala516Ser Uncertain significance Single submitter
- CHADL p.Ala516Val Uncertain significance Single submitter
- CHADL p.Ala702Thr Uncertain significance Single submitter
- CHADL p.Arg185Cys Uncertain significance Single submitter
- CHADL p.Arg209Lys Uncertain significance Single submitter
- CHADL p.Arg210Pro Uncertain significance Single submitter
- CHADL p.Arg331Cys Uncertain significance Single submitter
- CHADL p.Arg351Trp Uncertain significance Single submitter
- CHADL p.Arg377Cys Uncertain significance Single submitter
- CHADL p.Arg398Cys Uncertain significance Single submitter
- CHADL p.Arg49Trp Uncertain significance Single submitter
- CHADL p.Arg548Cys Uncertain significance Single submitter
- CHADL p.Arg569Trp Uncertain significance Single submitter
- CHADL p.Arg696Trp Uncertain significance Single submitter
- CHADL p.Arg708Cys Uncertain significance Single submitter
- CHADL p.Asp577Gly Uncertain significance Single submitter
- CHADL p.Cys277Phe Uncertain significance Single submitter
- CHADL p.Cys396Arg Uncertain significance Single submitter
- CHADL p.Glu505Lys Uncertain significance Single submitter
- CHADL p.Gly334Cys Uncertain significance Single submitter
- CHADL p.Leu19Ile Uncertain significance Single submitter
- CHADL p.Leu664Pro Uncertain significance Single submitter
- CHADL p.Leu669Pro Uncertain significance Single submitter
- CHADL p.Phe178Leu Uncertain significance Single submitter
- CHADL p.Pro352Leu Uncertain significance Single submitter
- CHADL p.Pro704Leu Uncertain significance Single submitter
- CHADL p.Ser212Arg Uncertain significance Single submitter
- CHADL p.Ser332Pro Uncertain significance Single submitter
- CHADL p.Thr54Ile Uncertain significance Single submitter
- CHADL p.Thr89Ile Uncertain significance Single submitter
- CHADL p.Tyr551Ser Uncertain significance Single submitter
- CHADL p.Val330Gly Uncertain significance Single submitter
All CHADL variants
Likely benign 10
- p.Ala59Thr Single submitter
- p.Arg257= Single submitter
- p.Arg398= Single submitter
- p.Arg5Gln Single submitter
- p.Gly84Asp Single submitter
- p.Leu63= Single submitter
- p.Pro15Leu Single submitter
- p.Pro395= Single submitter
- p.Pro744Ser Single submitter
- p.Val85Leu Single submitter
Uncertain significance 143
- p.Ala105Thr Single submitter ⚠
- p.Ala169Ser Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala220Asp Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala326Pro Single submitter ⚠
- p.Ala361Val Single submitter ⚠
- p.Ala462Val Single submitter ⚠
- p.Ala516Ser Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala519Gly Single submitter ⚠
- p.Ala702Thr Single submitter ⚠
- p.Ala716Val Single submitter ⚠
- p.Ala730Thr Single submitter ⚠
- p.Ala735Pro Single submitter ⚠
- p.Arg111Pro Single submitter
- p.Arg150Gly Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg209Lys Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg210Pro Single submitter ⚠
- p.Arg210Trp Single submitter ⚠
- p.Arg234Gly Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg306Leu Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg351Gln Single submitter ⚠
- p.Arg351Trp Single submitter ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg377Cys Single submitter ⚠
- p.Arg377His Single submitter ⚠
- p.Arg398Cys Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg49Trp Single submitter ⚠
- p.Arg548Cys Single submitter ⚠
- p.Arg556Gly Single submitter ⚠
- p.Arg556His Single submitter ⚠
- p.Arg556Ser Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Arg569Trp Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Arg696Leu Single submitter ⚠
- p.Arg696Trp Single submitter ⚠
- p.Arg708Cys Single submitter ⚠
- p.Arg708His Single submitter ⚠
- p.Arg732Gln Single submitter ⚠
- p.Arg737Ser Single submitter ⚠
- p.Arg761His Single submitter ⚠
- p.Arg761Leu Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn216Lys Single submitter ⚠
- p.Asn310Lys Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asn603Ser Single submitter ⚠
- p.Asp577Gly Single submitter ⚠
- p.Asp671Asn Single submitter ⚠
- p.Asp671Tyr Single submitter ⚠
- p.Asp753Glu Single submitter ⚠
- p.Cys277Phe Single submitter ⚠
- p.Cys336Ser Single submitter ⚠
- p.Cys396Arg Single submitter ⚠
- p.Gln228His Single submitter ⚠
- p.Gln297Arg Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Gln599His Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu124Gln Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu323Val Single submitter ⚠
- p.Glu389Gly Single submitter ⚠
- p.Glu505Lys Single submitter ⚠
- p.Glu758Lys Single submitter ⚠
- p.Gly104Ser Single submitter
- p.Gly334Cys Single submitter ⚠
- p.Gly375Arg Single submitter ⚠
- p.Gly449Asp Single submitter ⚠
- p.Gly471Arg Single submitter
- p.Gly587Glu Single submitter ⚠
- p.Gly611Arg Single submitter ⚠
- p.Gly692Arg Single submitter ⚠
- p.Gly698Glu Single submitter ⚠
- p.His281Arg Single submitter ⚠
- p.His90Gln Single submitter ⚠
- p.Ile476Thr Single submitter ⚠
- p.Leu109Val Single submitter
- p.Leu160Pro Single submitter ⚠
- p.Leu170Val Single submitter ⚠
- p.Leu181Ile Single submitter
- p.Leu19Ile Single submitter ⚠
- p.Leu211Phe Single submitter ⚠
- p.Leu350Arg Single submitter
- p.Leu464Pro Single submitter ⚠
- p.Leu469Gln Single submitter ⚠
- p.Leu53Ile Single submitter ⚠
- p.Leu53Phe Single submitter ⚠
- p.Leu547Phe Single submitter
- p.Leu581Met Single submitter
- p.Leu600Phe Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Leu655Phe Single submitter
- p.Leu664Pro Single submitter ⚠
- p.Leu669Pro Single submitter ⚠
- p.Leu91Pro Single submitter ⚠
- p.Phe178Leu Single submitter ⚠
- p.Phe638Ser Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro224Thr Single submitter ⚠
- p.Pro241Leu Single submitter
- p.Pro24Leu Single submitter ⚠
- p.Pro295Gln Single submitter ⚠
- p.Pro311Leu Single submitter
- p.Pro352Leu Single submitter ⚠
- p.Pro379Arg Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro383Arg Single submitter ⚠
- p.Pro387Ser Single submitter ⚠
- p.Pro395Leu Single submitter ⚠
- p.Pro397Ser Single submitter
- p.Pro404Ala Single submitter ⚠
- p.Pro420Thr Single submitter ⚠
- p.Pro585Leu Single submitter
- p.Pro593Arg Single submitter ⚠
- p.Pro704Leu Single submitter ⚠
- p.Pro744Ala Single submitter ⚠
- p.Ser212Arg Single submitter ⚠
- p.Ser332Pro Single submitter ⚠
- p.Ser332Thr Single submitter ⚠
- p.Ser406Phe Single submitter ⚠
- p.Ser439Trp Single submitter ⚠
- p.Ser489Thr Single submitter ⚠
- p.Ser639Leu Single submitter ⚠
- p.Thr54Ile Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Tyr551Ser Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val330Gly Single submitter ⚠
- p.Val46Ala Single submitter ⚠
- p.Val550Phe Single submitter ⚠
- p.Val584Gly Single submitter ⚠
- p.Val98Leu Single submitter ⚠