CHCHD4 — 22 ClinVar variants
All ClinVar germline CHCHD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Pathogenic · 1 Benign · 20 Uncertain significance
Full CHCHD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD4 p.Arg116Gly Uncertain significance Single submitter
- CHCHD4 p.Asp10Ala Uncertain significance Single submitter
- CHCHD4 p.Asp35Gly Uncertain significance Single submitter
- CHCHD4 p.Gly62Ser Uncertain significance Single submitter
- CHCHD4 p.Leu56Ile Uncertain significance Single submitter
- CHCHD4 p.Lys17Thr Uncertain significance Single submitter
- CHCHD4 p.Phe68Leu Uncertain significance Single submitter
- CHCHD4 p.Pro102Leu Uncertain significance Single submitter
- CHCHD4 p.Pro120Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CHCHD4 p.Ala121Pro Uncertain significance Single submitter
- CHCHD4 p.Arg92Gln Uncertain significance Single submitter
- CHCHD4 p.Arg92Trp Uncertain significance Single submitter
- CHCHD4 p.Asn34Ser Uncertain significance Single submitter
- CHCHD4 p.Gln95Glu Uncertain significance Single submitter
- CHCHD4 p.Glu38Lys Uncertain significance Single submitter
- CHCHD4 p.Met98Leu Uncertain significance Single submitter
- CHCHD4 p.Thr79Met Uncertain significance Single submitter
All CHCHD4 variants
Pathogenic 1
- p.Ser2Phe No assertion criteria hypoglycemia
Benign 1
- c.122-7G>A Multiple submitters
Uncertain significance 20
- c.22+2688C>T Single submitter
- c.22+2693T>C Single submitter
- c.22+2729G>A Single submitter
- p.Ala121Pro Single submitter ⚠
- p.Arg116Gly Single submitter ⚠
- p.Arg92Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asp10Ala Single submitter ⚠
- p.Asp35Gly Single submitter ⚠
- p.Gln95Glu Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.Leu56Ile Single submitter ⚠
- p.Lys17Thr Single submitter ⚠
- p.Met98Leu Single submitter ⚠
- p.Phe68Leu Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro120Ala Single submitter ⚠
- p.Thr79Met Single submitter ⚠