CHTF8 — 17 ClinVar variants
All ClinVar germline CHTF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
17 Uncertain significance
Full CHTF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHTF8 p.Ala28Val Uncertain significance Single submitter
- CHTF8 p.Arg109Cys Uncertain significance Single submitter
- CHTF8 p.Arg88His Uncertain significance Single submitter
- CHTF8 p.Arg88Ser Uncertain significance Single submitter
- CHTF8 p.Arg93Gln Uncertain significance Single submitter
- CHTF8 p.Glu67Asp Uncertain significance Single submitter
- CHTF8 p.Gly33Glu Uncertain significance Single submitter
- CHTF8 p.Ile63Val Uncertain significance Single submitter
- CHTF8 p.Leu38Pro Uncertain significance Single submitter
- CHTF8 p.Lys107Thr Uncertain significance Single submitter
- CHTF8 p.Pro78Leu Uncertain significance Single submitter
- CHTF8 p.Thr92Ser Uncertain significance Single submitter
- CHTF8 p.Tyr30Cys Uncertain significance Single submitter
- CHTF8 p.Tyr60His Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CHTF8 variants
Uncertain significance 17
- p.Ala28Val Single submitter ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Arg88Ser Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Glu67Asp Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu38Pro Single submitter ⚠
- p.Lys107Thr Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Thr92Ser Single submitter ⚠
- p.Tyr30Cys Single submitter ⚠
- p.Tyr44His Single submitter
- p.Tyr60His Single submitter ⚠