CHSY3 — 130 ClinVar variants
All ClinVar germline CHSY3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
5 Likely benign · 125 Uncertain significance
Full CHSY3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHSY3 p.Arg112Gln Uncertain significance Single submitter
- CHSY3 p.Arg375Gln Uncertain significance Single submitter
- CHSY3 p.Arg458Gln Uncertain significance Single submitter
- CHSY3 p.Arg515Gln Uncertain significance Single submitter
- CHSY3 p.Arg56Ser Uncertain significance Single submitter
- CHSY3 p.Arg630Ser Uncertain significance Single submitter
- CHSY3 p.Arg697Ile Uncertain significance Single submitter
- CHSY3 p.Arg69Gly Uncertain significance Single submitter
- CHSY3 p.Arg71Pro Uncertain significance Single submitter
- CHSY3 p.Arg730Gly Uncertain significance Single submitter
- CHSY3 p.Arg879Gln Uncertain significance Single submitter
- CHSY3 p.Asn155Lys Uncertain significance Single submitter
- CHSY3 p.Asn213Lys Uncertain significance Single submitter
- CHSY3 p.Asn213Ser Uncertain significance Single submitter
- CHSY3 p.Asn374Ser Uncertain significance Single submitter
- CHSY3 p.Asn480Ser Uncertain significance Single submitter
- CHSY3 p.Asn507Asp Uncertain significance Single submitter
- CHSY3 p.Asn581Ser Uncertain significance Single submitter
- CHSY3 p.Asn617Ser Uncertain significance Single submitter
- CHSY3 p.Asp159Asn Uncertain significance Single submitter
- CHSY3 p.Asp171His Uncertain significance Single submitter
- CHSY3 p.Asp230Gly Uncertain significance Single submitter
- CHSY3 p.Asp579Glu Uncertain significance Single submitter
- CHSY3 p.Cys645Arg Uncertain significance Single submitter
- CHSY3 p.Gln365Lys Uncertain significance Single submitter
- CHSY3 p.Gln60Leu Uncertain significance Single submitter
- CHSY3 p.Gln72Arg Uncertain significance Single submitter
- CHSY3 p.Gln74Glu Uncertain significance Single submitter
- CHSY3 p.Gln81Arg Uncertain significance Single submitter
- CHSY3 p.Gln825Glu Uncertain significance Single submitter
- CHSY3 p.Gln84His Uncertain significance Single submitter
- CHSY3 p.Glu462Asp Uncertain significance Single submitter
- CHSY3 p.Glu521Lys Uncertain significance Single submitter
- CHSY3 p.Gly160Ala Uncertain significance Single submitter
- CHSY3 p.Gly49Arg Uncertain significance Single submitter
- CHSY3 p.Gly664Ser Uncertain significance Single submitter
- CHSY3 p.Gly757Arg Uncertain significance Single submitter
- CHSY3 p.Gly802Val Uncertain significance Single submitter
- CHSY3 p.Gly94Arg Uncertain significance Single submitter
- CHSY3 p.Gly94Glu Uncertain significance Single submitter
- CHSY3 p.Gly94Val Uncertain significance Single submitter
- CHSY3 p.His616Pro Uncertain significance Single submitter
- CHSY3 p.Ile464Met Uncertain significance Single submitter
- CHSY3 p.Ile628Phe Uncertain significance Single submitter
- CHSY3 p.Ile689Leu Uncertain significance Single submitter
- CHSY3 p.Leu251Pro Uncertain significance Single submitter
- CHSY3 p.Lys441Thr Uncertain significance Single submitter
- CHSY3 p.Met503Val Uncertain significance Single submitter
- CHSY3 p.Met644Ile Uncertain significance Single submitter
- CHSY3 p.Met686Ile Uncertain significance Single submitter
- CHSY3 p.Met849Thr Uncertain significance Single submitter
- CHSY3 p.Phe607Leu Uncertain significance Single submitter
- CHSY3 p.Pro102Leu Uncertain significance Single submitter
- CHSY3 p.Pro125Ser Uncertain significance Single submitter
- CHSY3 p.Pro395Ser Uncertain significance Single submitter
- CHSY3 p.Pro483Ser Uncertain significance Single submitter
- CHSY3 p.Ser166Arg Uncertain significance Single submitter
- CHSY3 p.Ser46Phe Uncertain significance Single submitter
- CHSY3 p.Ser486Thr Uncertain significance Single submitter
- CHSY3 p.Ser489Arg Uncertain significance Single submitter
- CHSY3 p.Ser705Phe Uncertain significance Single submitter
- CHSY3 p.Ser856Arg Uncertain significance Single submitter
- CHSY3 p.Ser856Thr Uncertain significance Single submitter
- CHSY3 p.Thr554Ala Uncertain significance Single submitter
- CHSY3 p.Thr575Ile Uncertain significance Single submitter
- CHSY3 p.Thr735Lys Uncertain significance Single submitter
- CHSY3 p.Thr762Ala Uncertain significance Single submitter
- CHSY3 p.Trp256Cys Uncertain significance Single submitter
- CHSY3 p.Tyr233Cys Uncertain significance Single submitter
- CHSY3 p.Tyr811His Uncertain significance Single submitter
- CHSY3 p.Val12Ala Uncertain significance Single submitter
- CHSY3 p.Val349Ile Uncertain significance Single submitter
- CHSY3 p.Val3Gly Uncertain significance Single submitter
- CHSY3 p.Val448Leu Uncertain significance Single submitter
- CHSY3 p.Val625Leu Uncertain significance Single submitter
- CHSY3 p.Val808Ala Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- CHSY3 p.Ala141Thr Uncertain significance Single submitter
- CHSY3 p.Ala225Gly Uncertain significance Single submitter
- CHSY3 p.Ala53Val Uncertain significance Single submitter
- CHSY3 p.Ala793Thr Uncertain significance Single submitter
- CHSY3 p.Ala859Thr Uncertain significance Single submitter
- CHSY3 p.Arg145Trp Uncertain significance Single submitter
- CHSY3 p.Arg146Thr Uncertain significance Single submitter
- CHSY3 p.Arg197His Uncertain significance Single submitter
- CHSY3 p.Arg202His Uncertain significance Single submitter
- CHSY3 p.Arg319Gln Uncertain significance Single submitter
- CHSY3 p.Arg334Gly Uncertain significance Single submitter
- CHSY3 p.Arg527Leu Uncertain significance Single submitter
- CHSY3 p.Asn213Ile Uncertain significance Single submitter
- CHSY3 p.Asn530Ile Uncertain significance Single submitter
- CHSY3 p.Asp497Gly Uncertain significance Single submitter
- CHSY3 p.Asp809Glu Uncertain significance Single submitter
- CHSY3 p.Glu465Gly Uncertain significance Single submitter
- CHSY3 p.Glu685Lys Uncertain significance Single submitter
- CHSY3 p.Gly156Arg Uncertain significance Single submitter
- CHSY3 p.Gly160Glu Uncertain significance Single submitter
- CHSY3 p.Gly161Val Uncertain significance Single submitter
- CHSY3 p.Gly330Val Uncertain significance Single submitter
- CHSY3 p.Gly629Arg Uncertain significance Single submitter
- CHSY3 p.His373Arg Uncertain significance Single submitter
- CHSY3 p.His533Arg Uncertain significance Single submitter
- CHSY3 p.Ile329Val Uncertain significance Single submitter
- CHSY3 p.Ile391Val Uncertain significance Single submitter
- CHSY3 p.Ile587Asn Uncertain significance Single submitter
- CHSY3 p.Leu542Phe Uncertain significance Single submitter
- CHSY3 p.Leu627Val Uncertain significance Single submitter
- CHSY3 p.Leu646Phe Uncertain significance Single submitter
- CHSY3 p.Leu658Ile Uncertain significance Single submitter
- CHSY3 p.Phe641Leu Uncertain significance Single submitter
- CHSY3 p.Phe833Leu Uncertain significance Single submitter
- CHSY3 p.Pro212Leu Uncertain significance Single submitter
- CHSY3 p.Pro217Arg Uncertain significance Single submitter
- CHSY3 p.Pro218Arg Uncertain significance Single submitter
- CHSY3 p.Pro55His Uncertain significance Single submitter
- CHSY3 p.Pro66Leu Likely benign Single submitter
- CHSY3 p.Ser415Cys Uncertain significance Single submitter
- CHSY3 p.Ser435Arg Uncertain significance Single submitter
- CHSY3 p.Ser486Arg Uncertain significance Single submitter
- CHSY3 p.Ser605Tyr Uncertain significance Single submitter
- CHSY3 p.Ser769Leu Uncertain significance Single submitter
- CHSY3 p.Ser799Leu Uncertain significance Single submitter
- CHSY3 p.Thr798Asn Uncertain significance Single submitter
- CHSY3 p.Thr798Ile Uncertain significance Single submitter
- CHSY3 p.Tyr285Phe Uncertain significance Single submitter
- CHSY3 p.Val31Met Uncertain significance Single submitter
- CHSY3 p.Val499Ile Uncertain significance Single submitter
All CHSY3 variants
Likely benign 5
- p.Ala167Ser Single submitter
- p.Asp843= Single submitter
- p.Gly676Glu Single submitter
- p.Phe858= Single submitter
- p.Pro66Leu Single submitter ⚠
Uncertain significance 125
- p.Ala141Thr Single submitter ⚠
- p.Ala225Gly Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala793Thr Single submitter ⚠
- p.Ala859Thr Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg145Trp Single submitter ⚠
- p.Arg146Thr Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg375Gln Single submitter ⚠
- p.Arg458Gln Single submitter ⚠
- p.Arg515Gln Single submitter ⚠
- p.Arg527Leu Single submitter ⚠
- p.Arg56Ser Single submitter ⚠
- p.Arg630Ser Single submitter ⚠
- p.Arg697Ile Single submitter ⚠
- p.Arg69Gly Single submitter ⚠
- p.Arg71Pro Single submitter ⚠
- p.Arg730Gly Single submitter ⚠
- p.Arg879Gln Single submitter ⚠
- p.Asn155Lys Single submitter ⚠
- p.Asn213Ile Single submitter ⚠
- p.Asn213Lys Single submitter ⚠
- p.Asn213Ser Single submitter ⚠
- p.Asn374Ser Single submitter ⚠
- p.Asn480Ser Single submitter ⚠
- p.Asn507Asp Single submitter ⚠
- p.Asn530Ile Single submitter ⚠
- p.Asn581Ser Single submitter ⚠
- p.Asn617Ser Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp171His Single submitter ⚠
- p.Asp230Gly Single submitter ⚠
- p.Asp497Gly Single submitter ⚠
- p.Asp579Glu Single submitter ⚠
- p.Asp809Glu Single submitter ⚠
- p.Cys645Arg Single submitter ⚠
- p.Gln365Lys Single submitter ⚠
- p.Gln60Leu Single submitter ⚠
- p.Gln72Arg Single submitter ⚠
- p.Gln74Glu Single submitter ⚠
- p.Gln81Arg Single submitter ⚠
- p.Gln825Glu Single submitter ⚠
- p.Gln84His Single submitter ⚠
- p.Glu462Asp Single submitter ⚠
- p.Glu465Gly Single submitter ⚠
- p.Glu521Lys Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Gly156Arg Single submitter ⚠
- p.Gly160Ala Single submitter ⚠
- p.Gly160Glu Single submitter ⚠
- p.Gly161Val Single submitter ⚠
- p.Gly330Val Single submitter ⚠
- p.Gly49Arg Single submitter ⚠
- p.Gly629Arg Single submitter ⚠
- p.Gly664Ser Single submitter ⚠
- p.Gly757Arg Single submitter ⚠
- p.Gly802Val Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.Gly94Val Single submitter ⚠
- p.His373Arg Single submitter ⚠
- p.His533Arg Single submitter ⚠
- p.His616Pro Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile464Met Single submitter ⚠
- p.Ile587Asn Single submitter ⚠
- p.Ile628Phe Single submitter ⚠
- p.Ile689Leu Single submitter ⚠
- p.Leu251Pro Single submitter ⚠
- p.Leu542Phe Single submitter ⚠
- p.Leu627Val Single submitter ⚠
- p.Leu646Phe Single submitter ⚠
- p.Leu658Ile Single submitter ⚠
- p.Lys441Thr Single submitter ⚠
- p.Met503Val Single submitter ⚠
- p.Met644Ile Single submitter ⚠
- p.Met686Ile Single submitter ⚠
- p.Met849Thr Single submitter ⚠
- p.Phe607Leu Single submitter ⚠
- p.Phe641Leu Single submitter ⚠
- p.Phe833Leu Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro217Arg Single submitter ⚠
- p.Pro218Arg Single submitter ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro483Ser Single submitter ⚠
- p.Pro55His Single submitter ⚠
- p.Ser166Arg Single submitter ⚠
- p.Ser415Cys Single submitter ⚠
- p.Ser435Arg Single submitter ⚠
- p.Ser46Phe Single submitter ⚠
- p.Ser486Arg Single submitter ⚠
- p.Ser486Thr Single submitter ⚠
- p.Ser489Arg Single submitter ⚠
- p.Ser605Tyr Single submitter ⚠
- p.Ser705Phe Single submitter ⚠
- p.Ser769Leu Single submitter ⚠
- p.Ser799Leu Single submitter ⚠
- p.Ser856Arg Single submitter ⚠
- p.Ser856Thr Single submitter ⚠
- p.Thr554Ala Single submitter ⚠
- p.Thr575Ile Single submitter ⚠
- p.Thr735Lys Single submitter ⚠
- p.Thr762Ala Single submitter ⚠
- p.Thr798Asn Single submitter ⚠
- p.Thr798Ile Single submitter ⚠
- p.Trp256Cys Single submitter ⚠
- p.Tyr233Cys Single submitter ⚠
- p.Tyr285Phe Single submitter ⚠
- p.Tyr811His Single submitter ⚠
- p.Val12Ala Single submitter ⚠
- p.Val31Met Single submitter ⚠
- p.Val349Ile Single submitter ⚠
- p.Val3Gly Single submitter ⚠
- p.Val448Leu Single submitter ⚠
- p.Val499Ile Single submitter ⚠
- p.Val625Leu Single submitter ⚠
- p.Val808Ala Single submitter ⚠