CSH2 — 44 ClinVar variants
All ClinVar germline CSH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Benign · 7 Likely benign · 36 Uncertain significance
Full CSH2 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 lean, ClinVar uncertain 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSH2 p.Ala39Thr Uncertain significance Single submitter
- CSH2 p.Ala46Val Uncertain significance Single submitter
- CSH2 p.Arg160Gln Uncertain significance Single submitter
- CSH2 p.Asn125Ser Uncertain significance Single submitter
- CSH2 p.Asp37Glu Uncertain significance Single submitter
- CSH2 p.Glu212Gln Uncertain significance Single submitter
- CSH2 p.Gly146Ser Uncertain significance Single submitter
- CSH2 p.Gly152Glu Uncertain significance Single submitter
- CSH2 p.Gly157Ser Uncertain significance Single submitter
- CSH2 p.Gly25Arg Uncertain significance Single submitter
- CSH2 p.His177Gln Uncertain significance Single submitter
- CSH2 p.Ile51Val Uncertain significance Single submitter
- CSH2 p.Leu113Val Uncertain significance Single submitter
- CSH2 p.Ser158Asn Uncertain significance Single submitter
- CSH2 p.Val116Met Uncertain significance Single submitter
- CSH2 p.Val30Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CSH2 p.Arg103Cys Uncertain significance Single submitter
- CSH2 p.Arg117Trp Uncertain significance Single submitter
- CSH2 p.Arg159Cys Uncertain significance Single submitter
- CSH2 p.Arg160Trp Uncertain significance Single submitter
- CSH2 p.Arg204His Uncertain significance Single submitter
- CSH2 p.Arg209His Uncertain significance Single submitter
- CSH2 p.Arg209Leu Uncertain significance Single submitter
- CSH2 p.Arg6Gln Likely benign Single submitter
- CSH2 p.Glu100Val Uncertain significance Single submitter
- CSH2 p.His47Gln Uncertain significance Single submitter
- CSH2 p.Leu113Arg Uncertain significance Single submitter
- CSH2 p.Leu21Phe Uncertain significance Single submitter
- CSH2 p.Lys141Asn Uncertain significance Single submitter
- CSH2 p.Phe36Leu Uncertain significance Single submitter
- CSH2 p.Pro85Leu Uncertain significance Single submitter
- CSH2 p.Pro87Ser Uncertain significance Single submitter
- CSH2 p.Ser134Cys Uncertain significance Single submitter
- CSH2 p.Ser214Thr Uncertain significance Single submitter
- CSH2 p.Val116Gly Uncertain significance Single submitter
- CSH2 p.Val199Gly Uncertain significance Single submitter
- CSH2 p.Val211Leu Uncertain significance Single submitter
All CSH2 variants
Benign 1
- p.Ter218Gln Multiple submitters
Likely benign 7
- p.Arg6Gln Single submitter ⚠
- p.Asp135Asn Single submitter
- p.His177Arg Single submitter
- p.Leu165Phe Single submitter
- p.Met205Ile Single submitter
- p.Met40Val Single submitter
- p.Tyr190His Single submitter
Uncertain significance 36
- p.Ala39Thr Single submitter ⚠
- p.Ala46Val Single submitter ⚠
- p.Arg103Cys Single submitter ⚠
- p.Arg117Trp Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg209Leu Single submitter ⚠
- p.Asn125Ser Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Glu100Val Single submitter ⚠
- p.Glu212Gln Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly152Glu Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.His177Gln Single submitter ⚠
- p.His47Gln Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Leu113Arg Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu21Phe Single submitter ⚠
- p.Lys141Asn Single submitter ⚠
- p.Phe36Leu Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser134Cys Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser214Thr Single submitter ⚠
- p.Val116Gly Single submitter ⚠
- p.Val116Met Single submitter ⚠
- p.Val199Gly Single submitter ⚠
- p.Val211Leu Single submitter ⚠
- p.Val30Ile Single submitter ⚠