CHST11 — 49 ClinVar variants
All ClinVar germline CHST11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Conflicting · 9 Likely benign · 38 Uncertain significance
Full CHST11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CHST11 p.Arg175His
Uncertain significance
Multiple submitters
osteochondrodysplasia, brachydactyly, and overlapping malformed digits
- CHST11 p.Ala94Thr Uncertain significance Single submitter
- CHST11 p.Arg10Lys Uncertain significance Single submitter
- CHST11 p.Arg219Cys Uncertain significance Single submitter
- CHST11 p.Arg42Gln Uncertain significance Single submitter
- CHST11 p.Arg42Trp Uncertain significance Single submitter
- CHST11 p.Arg53Gln Uncertain significance Single submitter
- CHST11 p.Arg53Trp Uncertain significance Single submitter
- CHST11 p.Arg81Trp Uncertain significance Single submitter
- CHST11 p.Arg82Gln Uncertain significance Single submitter
- CHST11 p.Arg90Gln Uncertain significance Single submitter
- CHST11 p.Arg97His Uncertain significance Single submitter
- CHST11 p.Asn173Ser Uncertain significance Single submitter
- CHST11 p.Asp233Asn Uncertain significance Single submitter
- CHST11 p.Asp246Asn Uncertain significance Single submitter
- CHST11 p.Cys89Arg Uncertain significance Single submitter
- CHST11 p.Gln166Leu Uncertain significance Single submitter
- CHST11 p.Gln220Arg Uncertain significance Single submitter
- CHST11 p.Glu190Lys Uncertain significance Single submitter
- CHST11 p.Glu238Lys Uncertain significance Single submitter
- CHST11 p.Leu71Phe Uncertain significance Single submitter
- CHST11 p.Lys2Gln Uncertain significance Single submitter
- CHST11 p.Met148Arg Uncertain significance Single submitter
- CHST11 p.Ser56Tyr Uncertain significance Single submitter
- CHST11 p.Thr308Ala Uncertain significance Single submitter
- CHST11 p.Thr328Met Uncertain significance Single submitter
- CHST11 p.Tyr32Cys Uncertain significance Single submitter
- CHST11 p.Val101Met Uncertain significance Single submitter
- CHST11 p.Val345Ala Uncertain significance Single submitter
- CHST11 p.Val8Leu Uncertain significance Single submitter
- CHST11 p.Val8Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CHST11 variants
Conflicting classifications of pathogenicity 2
- p.Ala224Pro Single submitter ⚠
- p.Leu161_Asn165del No assertion criteria osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Likely benign 9
- p.Leu28= Single submitter
- p.Leu69= Single submitter
- p.Ser58= Single submitter
- p.Thr201= Single submitter
- p.Tyr331= Single submitter
- p.Val289= Single submitter
- c.-7C>A No assertion criteria CHST11-related disorder
- p.Arg99Gln No assertion criteria CHST11-related disorder
- p.Val289Ile No assertion criteria CHST11-related disorder
Uncertain significance 38
- p.Arg175His Multiple submitters osteochondrodysplasia, brachydactyly, and overlapping malformed digits ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg10Lys Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg97Cys Single submitter
- p.Arg97His Single submitter ⚠
- p.Arg99Trp Single submitter
- p.Asn173Ser Single submitter ⚠
- p.Asp233Asn Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Cys89Arg Single submitter ⚠
- p.Gln166Leu Single submitter ⚠
- p.Gln220Arg Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu238Lys Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Leu71Phe Single submitter ⚠
- p.Lys162Asn Single submitter ⚠
- p.Lys215Glu Single submitter ⚠
- p.Lys2Gln Single submitter ⚠
- p.Met148Arg Single submitter ⚠
- p.Met17Ile Single submitter ⚠
- p.Ser56Tyr Single submitter ⚠
- p.Thr261Ile Single submitter ⚠
- p.Thr308Ala Single submitter ⚠
- p.Thr328Met Single submitter ⚠
- p.Tyr32Cys Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val345Ala Single submitter ⚠
- p.Val8Leu Single submitter ⚠
- p.Val8Met Single submitter ⚠