CHCHD6 — 44 ClinVar variants
All ClinVar germline CHCHD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Benign · 6 Likely benign · 37 Uncertain significance
Full CHCHD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD6 p.Ala111Ser Uncertain significance Single submitter
- CHCHD6 p.Ala167Thr Uncertain significance Single submitter
- CHCHD6 p.Ala47Thr Uncertain significance Single submitter
- CHCHD6 p.Arg136Trp Uncertain significance Single submitter
- CHCHD6 p.Arg209Gln Uncertain significance Single submitter
- CHCHD6 p.Arg211Leu Uncertain significance Single submitter
- CHCHD6 p.Glu124Lys Uncertain significance Single submitter
- CHCHD6 p.Glu157Ala Uncertain significance Single submitter
- CHCHD6 p.Glu20Asp Uncertain significance Single submitter
- CHCHD6 p.Glu5Ala Uncertain significance Single submitter
- CHCHD6 p.Glu5Lys Uncertain significance Single submitter
- CHCHD6 p.Gly54Asp Uncertain significance Single submitter
- CHCHD6 p.Gly82Arg Uncertain significance Single submitter
- CHCHD6 p.His129Leu Uncertain significance Single submitter
- CHCHD6 p.His233Gln Uncertain significance Single submitter
- CHCHD6 p.Ile162Val Uncertain significance Single submitter
- CHCHD6 p.Leu120Arg Uncertain significance Single submitter
- CHCHD6 p.Leu159Pro Uncertain significance Single submitter
- CHCHD6 p.Leu55Phe Uncertain significance Single submitter
- CHCHD6 p.Lys165Gln Uncertain significance Single submitter
- CHCHD6 p.Pro212Gln Uncertain significance Single submitter
- CHCHD6 p.Pro212Thr Uncertain significance Single submitter
- CHCHD6 p.Pro48Ser Uncertain significance Single submitter
- CHCHD6 p.Ser13Thr Uncertain significance Single submitter
- CHCHD6 p.Ser13Tyr Uncertain significance Single submitter
- CHCHD6 p.Thr187Lys Uncertain significance Single submitter
- CHCHD6 p.Tyr170Cys Uncertain significance Single submitter
- CHCHD6 p.Tyr225His Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CHCHD6 p.Ala202Pro Uncertain significance Single submitter
- CHCHD6 p.Arg150Cys Uncertain significance Single submitter
- CHCHD6 p.Arg151Cys Uncertain significance Single submitter
- CHCHD6 p.Arg161His Uncertain significance Single submitter
- CHCHD6 p.Arg191Cys Uncertain significance Single submitter
- CHCHD6 p.Arg21Leu Uncertain significance Single submitter
- CHCHD6 p.Arg227Cys Uncertain significance Single submitter
- CHCHD6 p.Glu168Lys Uncertain significance Single submitter
- CHCHD6 p.Glu20Lys Uncertain significance Single submitter
- CHCHD6 p.Pro212Leu Likely benign Single submitter
All CHCHD6 variants
Benign 1
- p.Val193= Multiple submitters
Likely benign 6
- p.Ala231Thr Single submitter
- p.Arg136Gln Single submitter
- p.Arg227His Single submitter
- p.His115= Single submitter
- p.Pro212Leu Single submitter ⚠
- p.Thr122Met Single submitter
Uncertain significance 37
- p.Ala111Ser Single submitter ⚠
- p.Ala167Thr Single submitter ⚠
- p.Ala202Pro Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg211Leu Single submitter ⚠
- p.Arg21Leu Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu157Ala Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu5Ala Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.His129Leu Single submitter ⚠
- p.His233Gln Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Leu120Arg Single submitter ⚠
- p.Leu159Pro Single submitter ⚠
- p.Leu55Phe Single submitter ⚠
- p.Lys165Gln Single submitter ⚠
- p.Pro212Gln Single submitter ⚠
- p.Pro212Thr Single submitter ⚠
- p.Pro48Ser Single submitter ⚠
- p.Ser13Thr Single submitter ⚠
- p.Ser13Tyr Single submitter ⚠
- p.Thr187Lys Single submitter ⚠
- p.Tyr170Cys Single submitter ⚠
- p.Tyr225His Single submitter ⚠