CHIA — 103 ClinVar variants
All ClinVar germline CHIA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
7 Benign · 1 Benign/Likely benign · 6 Likely benign · 89 Uncertain significance
Full CHIA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHIA p.Ala288Val Uncertain significance Single submitter
- CHIA p.Ala291Ser Uncertain significance Single submitter
- CHIA p.Asp213Asn Uncertain significance Single submitter
- CHIA p.Asp44Asn Uncertain significance Single submitter
- CHIA p.Cys450Arg Uncertain significance Single submitter
- CHIA p.Cys51Ser Uncertain significance Single submitter
- CHIA p.Cys51Tyr Uncertain significance Single submitter
- CHIA p.Gln172Arg Uncertain significance Single submitter
- CHIA p.Glu305Lys Uncertain significance Single submitter
- CHIA p.Glu305Val Uncertain significance Single submitter
- CHIA p.Gly426Ser Uncertain significance Single submitter
- CHIA p.Gly98Asp Uncertain significance Single submitter
- CHIA p.Leu93Pro Uncertain significance Single submitter
- CHIA p.Met247Thr Uncertain significance Single submitter
- CHIA p.Phe166Ser Uncertain significance Single submitter
- CHIA p.Phe271Val Uncertain significance Single submitter
- CHIA p.Pro149Ser Uncertain significance Single submitter
- CHIA p.Pro321Leu Uncertain significance Single submitter
- CHIA p.Ser226Cys Uncertain significance Single submitter
- CHIA p.Thr181Pro Uncertain significance Single submitter
- CHIA p.Thr67Ser Uncertain significance Single submitter
- CHIA p.Trp333Cys Uncertain significance Single submitter
- CHIA p.Tyr141His Uncertain significance Single submitter
- CHIA p.Tyr267Cys Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- CHIA p.Ala57Thr Likely benign Multiple submitters
- CHIA p.Arg35Trp Benign Multiple submitters
- CHIA p.Ala182Thr Uncertain significance Single submitter
- CHIA p.Ala182Val Uncertain significance Single submitter
- CHIA p.Ala283Val Uncertain significance Single submitter
- CHIA p.Ala327Thr Uncertain significance Single submitter
- CHIA p.Ala407Val Uncertain significance Single submitter
- CHIA p.Ala431Pro Uncertain significance Single submitter
- CHIA p.Ala446Val Uncertain significance Single submitter
- CHIA p.Ala476Thr Likely benign Single submitter
- CHIA p.Ala79Gly Uncertain significance Single submitter
- CHIA p.Arg116Cys Uncertain significance Single submitter
- CHIA p.Arg128Cys Uncertain significance Single submitter
- CHIA p.Arg145His Uncertain significance Single submitter
- CHIA p.Arg163Cys Uncertain significance Single submitter
- CHIA p.Arg163His Likely benign Single submitter
- CHIA p.Arg35Gln Uncertain significance Single submitter
- CHIA p.Arg40Cys Uncertain significance Single submitter
- CHIA p.Asn253Tyr Uncertain significance Single submitter
- CHIA p.Asn312His Uncertain significance Single submitter
- CHIA p.Asn352Ser Uncertain significance Single submitter
- CHIA p.Asn459Lys Uncertain significance Single submitter
- CHIA p.Asn87Lys Uncertain significance Single submitter
- CHIA p.Asp234Asn Uncertain significance Single submitter
- CHIA p.Asp234Glu Uncertain significance Single submitter
- CHIA p.Asp244Tyr Uncertain significance Single submitter
- CHIA p.Asp343Ala Uncertain significance Single submitter
- CHIA p.Asp73Tyr Uncertain significance Single submitter
- CHIA p.Gln129His Uncertain significance Single submitter
- CHIA p.Gln33Arg Uncertain significance Single submitter
- CHIA p.Glu297Lys Uncertain significance Single submitter
- CHIA p.Gly146Val Uncertain significance Single submitter
- CHIA p.Gly313Arg Uncertain significance Single submitter
- CHIA p.Gly330Ser Uncertain significance Single submitter
- CHIA p.Gly412Arg Uncertain significance Single submitter
- CHIA p.Gly414Ala Uncertain significance Single submitter
- CHIA p.Gly436Ser Uncertain significance Single submitter
- CHIA p.His269Tyr Uncertain significance Single submitter
- CHIA p.Ile261Asn Uncertain significance Single submitter
- CHIA p.Ile272Asn Uncertain significance Single submitter
- CHIA p.Ile380Thr Uncertain significance Single submitter
- CHIA p.Leu18Phe Uncertain significance Single submitter
- CHIA p.Leu4Arg Uncertain significance Single submitter
- CHIA p.Lys171Asn Uncertain significance Single submitter
- CHIA p.Lys311Arg Uncertain significance Single submitter
- CHIA p.Lys384Arg Uncertain significance Single submitter
- CHIA p.Met109Ile Uncertain significance Single submitter
- CHIA p.Met358Val Uncertain significance Single submitter
- CHIA p.Phe101Cys Uncertain significance Single submitter
- CHIA p.Phe137Ser Uncertain significance Single submitter
- CHIA p.Phe264Val Uncertain significance Single submitter
- CHIA p.Phe466Leu Uncertain significance Single submitter
- CHIA p.Pro232Ala Uncertain significance Single submitter
- CHIA p.Pro265Leu Uncertain significance Single submitter
- CHIA p.Pro284Ser Uncertain significance Single submitter
- CHIA p.Pro293Thr Uncertain significance Single submitter
- CHIA p.Pro439Ser Uncertain significance Single submitter
- CHIA p.Ser411Asn Uncertain significance Single submitter
- CHIA p.Ser88Asn Uncertain significance Single submitter
- CHIA p.Thr285Ile Uncertain significance Single submitter
- CHIA p.Thr2Ile Uncertain significance Single submitter
- CHIA p.Thr368Ile Uncertain significance Single submitter
- CHIA p.Tyr304His Uncertain significance Single submitter
- CHIA p.Val159Gly Uncertain significance Single submitter
- CHIA p.Val262Ile Uncertain significance Single submitter
- CHIA p.Val324Ala Uncertain significance Single submitter
- CHIA p.Val334Leu Uncertain significance Single submitter
- CHIA p.Val440Met Uncertain significance Single submitter
- CHIA p.Val451Met Uncertain significance Single submitter
All CHIA variants
Benign 7
- p.Arg35Trp Multiple submitters ⚠
- p.Gly317Glu Multiple submitters
- p.Gly356= Multiple submitters
- p.Ile272= Multiple submitters
- p.Lys251= Multiple submitters
- p.Leu158= Single submitter
- p.Tyr326fs Single submitter
Benign/Likely benign 1
- p.Ala295Thr Multiple submitters
Likely benign 6
- p.Ala57Thr Multiple submitters ⚠
- p.Ala476Thr Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Asp133= Single submitter
- p.Glu65Lys Single submitter
- p.Ile13Val Single submitter
Uncertain significance 89
- p.Ala182Thr Single submitter ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Ala288Val Single submitter ⚠
- p.Ala291Ser Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala431Pro Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala79Gly Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Asn253Tyr Single submitter ⚠
- p.Asn312His Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asn459Lys Single submitter ⚠
- p.Asn87Lys Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp234Asn Single submitter ⚠
- p.Asp234Glu Single submitter ⚠
- p.Asp244Tyr Single submitter ⚠
- p.Asp343Ala Single submitter ⚠
- p.Asp44Asn Single submitter ⚠
- p.Asp73Tyr Single submitter ⚠
- p.Cys450Arg Single submitter ⚠
- p.Cys51Ser Single submitter ⚠
- p.Cys51Tyr Single submitter ⚠
- p.Gln129His Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gln33Arg Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu305Val Single submitter ⚠
- p.Gly146Val Single submitter ⚠
- p.Gly313Arg Single submitter ⚠
- p.Gly330Ser Single submitter ⚠
- p.Gly412Arg Single submitter ⚠
- p.Gly414Ala Single submitter ⚠
- p.Gly426Ser Single submitter ⚠
- p.Gly436Ser Single submitter ⚠
- p.Gly98Asp Single submitter ⚠
- p.His269Tyr Single submitter ⚠
- p.Ile261Asn Single submitter ⚠
- p.Ile272Asn Single submitter ⚠
- p.Ile380Thr Single submitter ⚠
- p.Leu18Phe Single submitter ⚠
- p.Leu4Arg Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Lys171Asn Single submitter ⚠
- p.Lys311Arg Single submitter ⚠
- p.Lys384Arg Single submitter ⚠
- p.Met109Ile Single submitter ⚠
- p.Met247Thr Single submitter ⚠
- p.Met358Val Single submitter ⚠
- p.Phe101Cys Single submitter ⚠
- p.Phe137Ser Single submitter ⚠
- p.Phe166Ser Single submitter ⚠
- p.Phe264Val Single submitter ⚠
- p.Phe271Val Single submitter ⚠
- p.Phe466Leu Single submitter ⚠
- p.Pro149Ser Single submitter ⚠
- p.Pro232Ala Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro293Thr Single submitter ⚠
- p.Pro321Leu Single submitter ⚠
- p.Pro439Ser Single submitter ⚠
- p.Ser226Cys Single submitter ⚠
- p.Ser411Asn Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Thr181Pro Single submitter ⚠
- p.Thr285Ile Single submitter ⚠
- p.Thr2Ile Single submitter ⚠
- p.Thr368Ile Single submitter ⚠
- p.Thr67Ser Single submitter ⚠
- p.Trp333Cys Single submitter ⚠
- p.Tyr141His Single submitter ⚠
- p.Tyr267Cys Single submitter ⚠
- p.Tyr304His Single submitter ⚠
- p.Val159Gly Single submitter ⚠
- p.Val262Ile Single submitter ⚠
- p.Val324Ala Single submitter ⚠
- p.Val334Leu Single submitter ⚠
- p.Val440Met Single submitter ⚠
- p.Val451Met Single submitter ⚠