CST6 — 28 ClinVar variants
All ClinVar germline CST6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Benign · 3 Likely benign · 22 Uncertain significance
Full CST6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CST6 p.Ala21Val
Uncertain significance
Single submitter
ectodermal dysplasia 15, hypohidrotic/hair type
- CST6 p.Ala54Val Uncertain significance Single submitter
- CST6 p.Arg24Gly Uncertain significance Single submitter
- CST6 p.Asn5Thr Uncertain significance Single submitter
- CST6 p.Cys126Trp Uncertain significance Single submitter
- CST6 p.Gly84Ser Uncertain significance Single submitter
- CST6 p.Thr96Ala Uncertain significance Single submitter
- CST6 p.Tyr68His Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CST6 p.Ala55Ser Uncertain significance Single submitter
- CST6 p.Arg125Cys Uncertain significance Single submitter
- CST6 p.Arg24Cys Uncertain significance Single submitter
- CST6 p.Arg29Gly Uncertain significance Single submitter
- CST6 p.Arg33Leu Uncertain significance Single submitter
- CST6 p.Arg3Gly Uncertain significance Single submitter
- CST6 p.Arg99Cys Uncertain significance Single submitter
- CST6 p.Asp109Asn Uncertain significance Single submitter
- CST6 p.Asp25Asn Uncertain significance Single submitter
- CST6 p.Glu37Asp Uncertain significance Single submitter
- CST6 p.Thr90Met Uncertain significance Single submitter
- CST6 p.Val15Asp Uncertain significance Single submitter
- CST6 p.Val15Ile Uncertain significance Single submitter
All CST6 variants
Pathogenic 1
- p.Gln121Ter No assertion criteria ectodermal dysplasia 15, hypohidrotic/hair type
Likely pathogenic 1
- p.Arg99fs Single submitter ectodermal dysplasia 15, hypohidrotic/hair type
Benign 1
- p.Arg3Leu No assertion criteria CST6-related disorder
Likely benign 3
- p.Leu6= Multiple submitters
- c.240+7C>T Single submitter
- p.Gln148Pro Single submitter
Uncertain significance 22
- p.Ala21Val Single submitter ectodermal dysplasia 15, hypohidrotic/hair type ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala55Ser Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg24Gly Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg33Leu Single submitter ⚠
- p.Arg3Gly Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Asn5Thr Single submitter ⚠
- p.Asp109Asn Single submitter ⚠
- p.Asp25Asn Single submitter ⚠
- p.Cys126Trp Single submitter ⚠
- p.Gln140Ter Single submitter ectodermal dysplasia 15, hypohidrotic/hair type
- p.Glu37Asp Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.Thr90Met Single submitter ⚠
- p.Thr96Ala Single submitter ⚠
- p.Tyr68His Single submitter ⚠
- p.Val15Asp Single submitter ⚠
- p.Val15Ile Single submitter ⚠