CST4 — 38 ClinVar variants
All ClinVar germline CST4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
5 Benign · 6 Likely benign · 27 Uncertain significance
Full CST4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CST4 p.Ala16Val Uncertain significance Single submitter
- CST4 p.Asn27Ser Uncertain significance Single submitter
- CST4 p.Cys118Phe Uncertain significance Single submitter
- CST4 p.Cys6Tyr Uncertain significance Single submitter
- CST4 p.Cys94Arg Uncertain significance Single submitter
- CST4 p.Gln116Leu Uncertain significance Single submitter
- CST4 p.Gly79Val Uncertain significance Single submitter
- CST4 p.Leu101Val Uncertain significance Single submitter
- CST4 p.Phe78Ser Uncertain significance Single submitter
- CST4 p.Thr77Ile Uncertain significance Single submitter
- CST4 p.Thr7Ile Uncertain significance Single submitter
- CST4 p.Thr7Ser Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CST4 p.Ala141Ser Benign Multiple submitters
- CST4 p.Leu8Gln Benign Multiple submitters
- CST4 p.Ala18Gly Uncertain significance Single submitter
- CST4 p.Arg91Cys Uncertain significance Single submitter
- CST4 p.Arg91His Uncertain significance Single submitter
- CST4 p.Glu111Gly Uncertain significance Single submitter
- CST4 p.Glu111Lys Uncertain significance Single submitter
- CST4 p.Gly17Glu Uncertain significance Single submitter
- CST4 p.Gly79Trp Uncertain significance Single submitter
- CST4 p.Leu112Pro Uncertain significance Single submitter
- CST4 p.Leu15Gln Uncertain significance Single submitter
- CST4 p.Leu19Met Uncertain significance Single submitter
- CST4 p.Leu19Pro Uncertain significance Single submitter
- CST4 p.Leu48Val Uncertain significance Single submitter
- CST4 p.Thr59Ala Uncertain significance Single submitter
- CST4 p.Trp127Cys Uncertain significance Single submitter
- CST4 p.Val87Glu Uncertain significance Single submitter
All CST4 variants
Benign 5
- p.Ala141Ser Multiple submitters ⚠
- p.Arg3= Multiple submitters
- p.Asn40Ser Multiple submitters
- p.Leu8Gln Multiple submitters ⚠
- p.Lys96= Multiple submitters
Likely benign 6
- p.Ala18= Single submitter
- p.Arg3Gln Single submitter
- p.Gly79Ala Single submitter
- p.Leu15= Single submitter
- p.Phe85Leu Single submitter
- p.Pro31= Single submitter
Uncertain significance 27
- p.Ala16Val Single submitter ⚠
- p.Ala18Gly Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Cys118Phe Single submitter ⚠
- p.Cys6Tyr Single submitter ⚠
- p.Cys94Arg Single submitter ⚠
- p.Gln116Leu Single submitter ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Gly17Glu Single submitter ⚠
- p.Gly79Trp Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu112Pro Single submitter ⚠
- p.Leu15Gln Single submitter ⚠
- p.Leu19Met Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Leu48Val Single submitter ⚠
- p.Phe78Ser Single submitter ⚠
- p.Thr59Ala Single submitter ⚠
- p.Thr77Ile Single submitter ⚠
- p.Thr7Ile Single submitter ⚠
- p.Thr7Ser Single submitter ⚠
- p.Trp127Cys Single submitter ⚠
- p.Val87Glu Single submitter ⚠