CSH1 — 34 ClinVar variants
All ClinVar germline CSH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
4 Likely benign · 30 Uncertain significance
Full CSH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSH1 p.Ala14Gly Uncertain significance Single submitter
- CSH1 p.Arg159His Uncertain significance Single submitter
- CSH1 p.Arg6Gln Uncertain significance Single submitter
- CSH1 p.Asp135Asn Uncertain significance Single submitter
- CSH1 p.Asp180His Uncertain significance Single submitter
- CSH1 p.Asp37Glu Uncertain significance Single submitter
- CSH1 p.Glu144Asp Uncertain significance Single submitter
- CSH1 p.Gly187Arg Uncertain significance Single submitter
- CSH1 p.His179Arg Uncertain significance Single submitter
- CSH1 p.His38Asp Uncertain significance Single submitter
- CSH1 p.His38Gln Uncertain significance Single submitter
- CSH1 p.Ile104Thr Uncertain significance Single submitter
- CSH1 p.Ile164Thr Uncertain significance Single submitter
- CSH1 p.Leu165Val Uncertain significance Single submitter
- CSH1 p.Leu182Val Uncertain significance Single submitter
- CSH1 p.Met122Ile Uncertain significance Single submitter
- CSH1 p.Met122Thr Uncertain significance Single submitter
- CSH1 p.Ser176Pro Uncertain significance Single submitter
- CSH1 p.Thr149Met Uncertain significance Single submitter
- CSH1 p.Trp112Arg Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CSH1 p.Ala2Thr Uncertain significance Single submitter
- CSH1 p.Arg160Trp Uncertain significance Single submitter
- CSH1 p.Arg204Ser Uncertain significance Single submitter
- CSH1 p.Glu200Lys Uncertain significance Single submitter
- CSH1 p.His179Asp Likely benign Single submitter
- CSH1 p.Leu113Arg Uncertain significance Single submitter
- CSH1 p.Met196Val Uncertain significance Single submitter
- CSH1 p.Phe172Ser Uncertain significance Single submitter
- CSH1 p.Ser111Ala Uncertain significance Single submitter
- CSH1 p.Val211Ala Uncertain significance Single submitter
- CSH1 p.Val211Leu Uncertain significance Single submitter
All CSH1 variants
Likely benign 4
- p.Ala124Thr Single submitter
- p.Ala39= Single submitter
- p.His179Asp Single submitter ⚠
- p.Tyr190His Single submitter
Uncertain significance 30
- p.Ala14Gly Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg204Ser Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp180His Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Glu144Asp Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.His179Arg Single submitter ⚠
- p.His38Asp Single submitter ⚠
- p.His38Gln Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile164Thr Single submitter ⚠
- p.Leu113Arg Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu182Val Single submitter ⚠
- p.Met122Ile Single submitter ⚠
- p.Met122Thr Single submitter ⚠
- p.Met196Val Single submitter ⚠
- p.Phe172Ser Single submitter ⚠
- p.Ser111Ala Single submitter ⚠
- p.Ser176Pro Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Trp112Arg Single submitter ⚠
- p.Val211Ala Single submitter ⚠
- p.Val211Leu Single submitter ⚠