HES1 — 30 ClinVar variants
All ClinVar germline HES1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Benign · 1 Likely benign · 28 Uncertain significance
Full HES1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HES1 p.Ala165Ser Uncertain significance Single submitter
- HES1 p.Ala182Thr Uncertain significance Single submitter
- HES1 p.Ala195Pro Uncertain significance Single submitter
- HES1 p.Ala201Val Uncertain significance Single submitter
- HES1 p.Ala237Thr Uncertain significance Single submitter
- HES1 p.Arg111Leu Uncertain significance Single submitter
- HES1 p.Arg138Trp Uncertain significance Single submitter
- HES1 p.Asn22Ser Uncertain significance Single submitter
- HES1 p.Gln228Arg Uncertain significance Single submitter
- HES1 p.Gly157Arg Uncertain significance Single submitter
- HES1 p.Gly193Asp Uncertain significance Single submitter
- HES1 p.Gly242Ala Uncertain significance Single submitter
- HES1 p.Ile5Met Uncertain significance Single submitter
- HES1 p.Pro170Leu Uncertain significance Single submitter
- HES1 p.Pro196Leu Uncertain significance Single submitter
- HES1 p.Pro196Ser Uncertain significance Single submitter
- HES1 p.Pro198Ser Uncertain significance Single submitter
- HES1 p.Pro267Leu Uncertain significance Single submitter
- HES1 p.Thr270Met Uncertain significance Single submitter
- HES1 p.Val188Ala Uncertain significance Single submitter
- HES1 p.Val247Leu Uncertain significance Single submitter
- HES1 p.Val261Gly Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All HES1 variants
Benign 1
- c.293-5C>T Single submitter
Likely benign 1
- p.Asn259= Single submitter
Uncertain significance 28
- p.Ala165Ser Single submitter ⚠
- p.Ala182Thr Single submitter ⚠
- p.Ala195Pro Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Arg111Leu Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg93Gln Single submitter
- p.Asn22Ser Single submitter ⚠
- p.Gln228Arg Single submitter ⚠
- p.Gly130Ser Single submitter
- p.Gly157Arg Single submitter ⚠
- p.Gly193Asp Single submitter ⚠
- p.Gly242Ala Single submitter ⚠
- p.Ile5Met Single submitter ⚠
- p.Phe231Val Single submitter ⚠
- p.Pro13Leu Single submitter
- p.Pro170Leu Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro196Leu Single submitter ⚠
- p.Pro196Ser Single submitter ⚠
- p.Pro198Ser Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Thr270Met Single submitter ⚠
- p.Val188Ala Single submitter ⚠
- p.Val247Leu Single submitter ⚠
- p.Val261Gly Single submitter ⚠