CSHL1 — 61 ClinVar variants
All ClinVar germline CSHL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
3 Benign · 9 Likely benign · 49 Uncertain significance
Full CSHL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSHL1 p.Ala186Thr Uncertain significance Single submitter
- CSHL1 p.Ala46Thr Uncertain significance Single submitter
- CSHL1 p.Ala65Thr Uncertain significance Single submitter
- CSHL1 p.Arg117Gln Uncertain significance Single submitter
- CSHL1 p.Arg6Gly Uncertain significance Single submitter
- CSHL1 p.Asp135His Uncertain significance Single submitter
- CSHL1 p.Asp138Glu Uncertain significance Single submitter
- CSHL1 p.Asp141Tyr Uncertain significance Single submitter
- CSHL1 p.Gln153Lys Uncertain significance Single submitter
- CSHL1 p.Gln80His Uncertain significance Single submitter
- CSHL1 p.Glu38Asp Uncertain significance Single submitter
- CSHL1 p.Glu38Gln Uncertain significance Single submitter
- CSHL1 p.Gly192Arg Uncertain significance Single submitter
- CSHL1 p.Gly192Trp Uncertain significance Single submitter
- CSHL1 p.His164Arg Uncertain significance Single submitter
- CSHL1 p.His195Tyr Uncertain significance Single submitter
- CSHL1 p.Lys37Asn Uncertain significance Single submitter
- CSHL1 p.Lys37Glu Uncertain significance Single submitter
- CSHL1 p.Lys72Thr Uncertain significance Single submitter
- CSHL1 p.Met201Thr Uncertain significance Single submitter
- CSHL1 p.Met95Ile Uncertain significance Single submitter
- CSHL1 p.Pro90Thr Uncertain significance Single submitter
- CSHL1 p.Ser163Asn Uncertain significance Single submitter
- CSHL1 p.Ser79Phe Uncertain significance Single submitter
- CSHL1 p.Thr7Arg Uncertain significance Single submitter
- CSHL1 p.Thr91Ser Uncertain significance Single submitter
- CSHL1 p.Thr98Met Uncertain significance Single submitter
- CSHL1 p.Trp61Cys Uncertain significance Single submitter
- CSHL1 p.Val121Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CSHL1 p.Ala26Val Uncertain significance Single submitter
- CSHL1 p.Arg125Trp Uncertain significance Single submitter
- CSHL1 p.Arg209Cys Uncertain significance Single submitter
- CSHL1 p.Arg214Ser Uncertain significance Single submitter
- CSHL1 p.Arg45Gly Uncertain significance Single submitter
- CSHL1 p.Arg6Gln Likely benign Single submitter
- CSHL1 p.Asn180Lys Uncertain significance Single submitter
- CSHL1 p.Glu217Gly Uncertain significance Single submitter
- CSHL1 p.Glu64Val Uncertain significance Single submitter
- CSHL1 p.Gly192Glu Uncertain significance Single submitter
- CSHL1 p.Leu113Val Uncertain significance Single submitter
- CSHL1 p.Leu16Phe Uncertain significance Single submitter
- CSHL1 p.Leu188Phe Uncertain significance Single submitter
- CSHL1 p.Leu18Pro Uncertain significance Single submitter
- CSHL1 p.Leu194Phe Uncertain significance Single submitter
- CSHL1 p.Leu41Pro Uncertain significance Single submitter
- CSHL1 p.Lys101Ile Uncertain significance Single submitter
- CSHL1 p.Phe85Leu Uncertain significance Single submitter
- CSHL1 p.Pro31Ser Uncertain significance Single submitter
- CSHL1 p.Thr7Lys Uncertain significance Single submitter
- CSHL1 p.Tyr191His Uncertain significance Single submitter
All CSHL1 variants
Benign 3
- p.Thr127= Multiple submitters
- p.Thr127Ile Multiple submitters
- p.Thr129Ala Multiple submitters
Likely benign 9
- c.306+1G>A Single submitter
- p.Arg117Trp Single submitter
- p.Arg6Gln Single submitter ⚠
- p.His108Arg Single submitter
- p.His182Gln Single submitter
- p.Ile51Phe Single submitter
- p.Leu165Arg Single submitter
- p.Leu170Phe Single submitter
- p.Met154Thr Single submitter
Uncertain significance 49
- p.Ala186Thr Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg214Ser Single submitter ⚠
- p.Arg45Gly Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Asn180Lys Single submitter ⚠
- p.Asp135His Single submitter ⚠
- p.Asp138Glu Single submitter ⚠
- p.Asp141Tyr Single submitter ⚠
- p.Gln153Lys Single submitter ⚠
- p.Gln80His Single submitter ⚠
- p.Glu217Gly Single submitter ⚠
- p.Glu38Asp Single submitter ⚠
- p.Glu38Gln Single submitter ⚠
- p.Glu64Val Single submitter ⚠
- p.Gly192Arg Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly192Trp Single submitter ⚠
- p.His164Arg Single submitter ⚠
- p.His195Tyr Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu188Phe Single submitter ⚠
- p.Leu18Pro Single submitter ⚠
- p.Leu194Phe Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Lys101Ile Single submitter ⚠
- p.Lys37Asn Single submitter ⚠
- p.Lys37Glu Single submitter ⚠
- p.Lys72Thr Single submitter ⚠
- p.Met201Thr Single submitter ⚠
- p.Met95Ile Single submitter ⚠
- p.Phe85Leu Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Pro90Thr Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser79Phe Single submitter ⚠
- p.Thr7Arg Single submitter ⚠
- p.Thr7Lys Single submitter ⚠
- p.Thr91Ser Single submitter ⚠
- p.Thr98Met Single submitter ⚠
- p.Trp61Cys Single submitter ⚠
- p.Tyr191His Single submitter ⚠
- p.Val121Met Single submitter ⚠