CHST8 — 85 ClinVar variants
All ClinVar germline CHST8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
1 Conflicting · 5 Benign · 11 Likely benign · 68 Uncertain significance
Full CHST8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHST8 p.Val186Ala Uncertain significance Multiple submitters
- CHST8 p.Ala293Pro Uncertain significance Single submitter
- CHST8 p.Ala293Ser Uncertain significance Single submitter
- CHST8 p.Ala381Thr Uncertain significance Single submitter
- CHST8 p.Ala83Pro Uncertain significance Single submitter
- CHST8 p.Arg101Lys Uncertain significance Single submitter
- CHST8 p.Arg136Gln Uncertain significance Single submitter
- CHST8 p.Arg156Ser Uncertain significance Single submitter
- CHST8 p.Arg168Pro Uncertain significance Single submitter
- CHST8 p.Arg207Gln Uncertain significance Single submitter
- CHST8 p.Arg207Trp Uncertain significance Single submitter
- CHST8 p.Arg235Ser Uncertain significance Single submitter
- CHST8 p.Arg247Gly Uncertain significance Single submitter
- CHST8 p.Arg292Cys Uncertain significance Single submitter
- CHST8 p.Arg320Pro Uncertain significance Single submitter
- CHST8 p.Arg376Trp Uncertain significance Single submitter
- CHST8 p.Arg386Thr Uncertain significance Single submitter
- CHST8 p.Arg4Gln Uncertain significance Single submitter
- CHST8 p.Asp341Glu Uncertain significance Single submitter
- CHST8 p.Gln223His Uncertain significance Single submitter
- CHST8 p.Gln64Arg Uncertain significance Single submitter
- CHST8 p.Glu155Ala Uncertain significance Single submitter
- CHST8 p.Gly140Ala Uncertain significance Single submitter
- CHST8 p.Gly140Glu Uncertain significance Single submitter
- CHST8 p.His180Gln Uncertain significance Single submitter
- CHST8 p.Leu245Ser Uncertain significance Single submitter
- CHST8 p.Leu25Phe Uncertain significance Single submitter
- CHST8 p.Leu315Arg Uncertain significance Single submitter
- CHST8 p.Leu398Pro Uncertain significance Single submitter
- CHST8 p.Lys117Arg Uncertain significance Single submitter
- CHST8 p.Met13Thr Uncertain significance Single submitter
- CHST8 p.Met13Val Uncertain significance Single submitter
- CHST8 p.Met160Val Uncertain significance Single submitter
- CHST8 p.Phe272Ser Uncertain significance Single submitter
- CHST8 p.Pro139Ser Uncertain significance Single submitter
- CHST8 p.Pro39Leu Uncertain significance Single submitter
- CHST8 p.Ser148Gly Uncertain significance Single submitter
- CHST8 p.Ser81Thr Uncertain significance Single submitter
- CHST8 p.Tyr279His Uncertain significance Single submitter
- CHST8 p.Tyr411Cys Uncertain significance Single submitter
- CHST8 p.Val147Ala Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CHST8 p.Ala23Gly Uncertain significance Single submitter
- CHST8 p.Arg113His Uncertain significance Single submitter
- CHST8 p.Arg151Gln Likely benign Single submitter
- CHST8 p.Arg189Cys Uncertain significance Single submitter
- CHST8 p.Arg235His Uncertain significance Single submitter
- CHST8 p.Arg290Gln Uncertain significance Single submitter
- CHST8 p.Arg307Gly Uncertain significance Single submitter
- CHST8 p.Arg320Gln Uncertain significance Single submitter
- CHST8 p.Arg400Lys Uncertain significance Single submitter
-
CHST8 p.Arg77Trp
Conflicting
Single submitter
peeling skin syndrome type A
- CHST8 p.Asp221Asn Uncertain significance Single submitter
- CHST8 p.Asp33Asn Uncertain significance Single submitter
- CHST8 p.Gly62Cys Uncertain significance Single submitter
- CHST8 p.His319Pro Uncertain significance Single submitter
- CHST8 p.Ile222Met Uncertain significance Single submitter
- CHST8 p.Leu58Ile Uncertain significance Single submitter
- CHST8 p.Phe261Val Uncertain significance Single submitter
- CHST8 p.Phe47Cys Uncertain significance Single submitter
- CHST8 p.Pro309Leu Uncertain significance Single submitter
- CHST8 p.Ser130Leu Uncertain significance Single submitter
- CHST8 p.Ser130Pro Uncertain significance Single submitter
- CHST8 p.Ser350Gly Uncertain significance Single submitter
- CHST8 p.Ser360Asn Uncertain significance Single submitter
- CHST8 p.Ser360Gly Uncertain significance Single submitter
- CHST8 p.Thr177Met Uncertain significance Single submitter
- CHST8 p.Thr226Ile Uncertain significance Single submitter
- CHST8 p.Thr252Ala Uncertain significance Single submitter
- CHST8 p.Thr369Ala Uncertain significance Single submitter
- CHST8 p.Val318Leu Uncertain significance Single submitter
All CHST8 variants
Conflicting classifications of pathogenicity 1
- p.Arg77Trp Single submitter peeling skin syndrome type A ⚠
Benign 5
- c.168+64G>A Multiple submitters
- c.-86-36C>T Multiple submitters
- p.Arg9= Multiple submitters
- p.Leu288= Multiple submitters
- p.Lys234= No assertion criteria CHST8-related disorder
Likely benign 11
- p.Ala397Thr Single submitter
- p.Ala91Val Single submitter
- p.Arg151Gln Single submitter ⚠
- p.Gly62Ser Single submitter
- p.Pro98Leu Single submitter
- p.Ser172dup Single submitter
- p.Thr103Ala Single submitter
- p.Thr403Ala Single submitter
- p.Arg77= No assertion criteria CHST8-related disorder
- p.Pro126Arg No assertion criteria CHST8-related disorder
- p.Pro139= No assertion criteria CHST8-related disorder
Uncertain significance 68
- p.Val186Ala Multiple submitters ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala293Pro Single submitter ⚠
- p.Ala293Ser Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala83Pro Single submitter ⚠
- p.Arg101Lys Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg156Ser Single submitter ⚠
- p.Arg168Pro Single submitter ⚠
- p.Arg189Cys Single submitter ⚠
- p.Arg207Gln Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg235His Single submitter ⚠
- p.Arg235Ser Single submitter ⚠
- p.Arg247Gly Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg307Gly Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg320Pro Single submitter ⚠
- p.Arg376Trp Single submitter ⚠
- p.Arg386Thr Single submitter ⚠
- p.Arg400Lys Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Asp221Asn Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Asp341Glu Single submitter ⚠
- p.Gln223His Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Glu155Ala Single submitter ⚠
- p.Gly140Ala Single submitter ⚠
- p.Gly140Glu Single submitter ⚠
- p.Gly62Cys Single submitter ⚠
- p.His180Gln Single submitter ⚠
- p.His319Pro Single submitter ⚠
- p.Ile222Met Single submitter ⚠
- p.Leu245Ser Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu315Arg Single submitter ⚠
- p.Leu398Pro Single submitter ⚠
- p.Leu58Ile Single submitter ⚠
- p.Lys117Arg Single submitter ⚠
- p.Met13Thr Single submitter ⚠
- p.Met13Val Single submitter ⚠
- p.Met160Val Single submitter ⚠
- p.Phe261Val Single submitter ⚠
- p.Phe272Ser Single submitter ⚠
- p.Phe47Cys Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro309Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser130Pro Single submitter ⚠
- p.Ser148Gly Single submitter ⚠
- p.Ser350Gly Single submitter ⚠
- p.Ser360Asn Single submitter ⚠
- p.Ser360Gly Single submitter ⚠
- p.Ser81Thr Single submitter ⚠
- p.Thr177Met Single submitter ⚠
- p.Thr226Ile Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Thr369Ala Single submitter ⚠
- p.Tyr279His Single submitter ⚠
- p.Tyr411Cys Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val318Leu Single submitter ⚠