CHCHD2 — 101 ClinVar variants
All ClinVar germline CHCHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
2 Pathogenic · 1 Conflicting · 13 Benign · 1 Benign/Likely benign · 22 Likely benign · 62 Uncertain significance
Full CHCHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD2 p.Ala32Thr Uncertain significance Multiple submitters
- CHCHD2 p.Arg51Gln Uncertain significance Multiple submitters
- CHCHD2 p.Ile131Val Uncertain significance Multiple submitters
-
CHCHD2 p.Pro34Leu
Uncertain significance
Multiple submitters
Parkinson disease 22, autosomal dominant
- CHCHD2 p.Ala125Thr Uncertain significance Single submitter
- CHCHD2 p.Ala13Thr Uncertain significance Single submitter
- CHCHD2 p.Ala13Val Uncertain significance Single submitter
- CHCHD2 p.Ala16Thr Uncertain significance Single submitter
- CHCHD2 p.Ala25Thr Uncertain significance Single submitter
- CHCHD2 p.Ala32Pro Uncertain significance Single submitter
- CHCHD2 p.Ala37Ser Uncertain significance Single submitter
- CHCHD2 p.Ala42Val Uncertain significance Single submitter
- CHCHD2 p.Ala48Thr Uncertain significance Single submitter
- CHCHD2 p.Ala49Val Uncertain significance Single submitter
- CHCHD2 p.Arg11His Uncertain significance Single submitter
- CHCHD2 p.Arg18Gln Uncertain significance Single submitter
- CHCHD2 p.Arg51Pro Uncertain significance Single submitter
- CHCHD2 p.Asn89His Uncertain significance Single submitter
- CHCHD2 p.Cys134Phe Uncertain significance Single submitter
- CHCHD2 p.Gln103Arg Uncertain significance Single submitter
- CHCHD2 p.Gln120Arg Uncertain significance Single submitter
- CHCHD2 p.Gln21His Uncertain significance Single submitter
-
CHCHD2 p.Gln52His
Uncertain significance
Single submitter
Parkinson disease 22, autosomal dominant
- CHCHD2 p.Gln58His Uncertain significance Single submitter
- CHCHD2 p.Glu135Asp Uncertain significance Single submitter
- CHCHD2 p.Gly104Glu Uncertain significance Single submitter
- CHCHD2 p.Gly73Trp Uncertain significance Single submitter
- CHCHD2 p.Gly82Glu Uncertain significance Single submitter
- CHCHD2 p.Ile80Val Uncertain significance Single submitter
- CHCHD2 p.Met22Thr Uncertain significance Single submitter
- CHCHD2 p.Met22Val Uncertain significance Single submitter
- CHCHD2 p.Met56Thr Uncertain significance Single submitter
- CHCHD2 p.Met59Val Uncertain significance Single submitter
- CHCHD2 p.Phe121Val Uncertain significance Single submitter
- CHCHD2 p.Pro107Arg Uncertain significance Single submitter
- CHCHD2 p.Ser45Ala Uncertain significance Single submitter
- CHCHD2 p.Thr81Asn Uncertain significance Single submitter
- CHCHD2 p.Val66Met Uncertain significance Single submitter
- CHCHD2 p.Val72Gly Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CHCHD2 p.Ala60Val Uncertain significance Multiple submitters
- CHCHD2 p.Pro2Leu Benign/Likely benign Multiple submitters
- CHCHD2 p.Pro39Thr Uncertain significance Multiple submitters
- CHCHD2 p.Ala147Gly Uncertain significance Single submitter
- CHCHD2 p.Ala79Thr Uncertain significance Single submitter
-
CHCHD2 p.Arg145Gln
Uncertain significance
Single submitter
Parkinson disease 22, autosomal dominant
- CHCHD2 p.Arg18Trp Uncertain significance Single submitter
- CHCHD2 p.Arg51Trp Conflicting Single submitter
- CHCHD2 p.Gln100His Uncertain significance Single submitter
- CHCHD2 p.Gly149Arg Uncertain significance Single submitter
- CHCHD2 p.Gly4Arg Uncertain significance Single submitter
- CHCHD2 p.Lys132Gln Uncertain significance Single submitter
- CHCHD2 p.Pro95Leu Uncertain significance Single submitter
- CHCHD2 p.Ser10Cys Uncertain significance Single submitter
- CHCHD2 p.Ser7Arg Uncertain significance Single submitter
- CHCHD2 p.Thr81Ala Uncertain significance Single submitter
- CHCHD2 p.Thr98Ile Uncertain significance Single submitter
- CHCHD2 p.Tyr99Cys Uncertain significance Single submitter
All CHCHD2 variants
Pathogenic 2
- p.Thr61Ile Single submitter Parkinson disease 22, autosomal dominant
- c.300+5G>A No assertion criteria Parkinson disease 22, autosomal dominant
Conflicting classifications of pathogenicity 1
- p.Arg51Trp Single submitter ⚠
Benign 13
- c.300+159T>G Multiple submitters
- c.445+113T>C Multiple submitters
- c.445+14C>T Multiple submitters
- c.50+87T>C Multiple submitters
- c.-34C>A Multiple submitters
- c.-9T>G Multiple submitters
- c.*125G>A Multiple submitters
- c.50+241T>C Single submitter
- c.51-10del Single submitter
- c.51-193A>G Single submitter
- c.51-210C>T Single submitter
- c.*45dup Single submitter
- p.Val140Met No assertion criteria amelogenesis imperfecta
Likely benign 22
- c.445+17A>G Multiple submitters
- p.Leu141= Multiple submitters
- p.Pro14Ser Multiple submitters
- c.300+7A>C Single submitter
- c.446-10_446-9del Single submitter
- c.446-120dup Single submitter
- c.446-12T>C Single submitter
- c.446-15C>A Single submitter
- c.446-16T>C Single submitter
- c.50+104C>A Single submitter
- c.50+8C>T Single submitter
- c.51-14del Single submitter
- c.-12C>T Single submitter
- p.Ala25= Single submitter
- p.Ala49= Single submitter
- p.Gly65= Single submitter
- p.His78= Single submitter
- p.Pro15= Single submitter
- p.Pro26= Single submitter
- p.Ser88= Single submitter
- p.Thr61= Single submitter
- p.Leu133= No assertion criteria CHCHD2-related disorder
Uncertain significance 62
- c.446-9T>A Multiple submitters
- p.Ala32Thr Multiple submitters ⚠
- p.Ala60Val Multiple submitters ⚠
- p.Arg51Gln Multiple submitters ⚠
- p.Ile131Val Multiple submitters ⚠
- p.Pro34Leu Multiple submitters Parkinson disease 22, autosomal dominant ⚠
- p.Pro39Thr Multiple submitters ⚠
- c.301-2A>G Single submitter
- p.Ala125Thr Single submitter ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala147Gly Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala32Pro Single submitter ⚠
- p.Ala37Ser Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala49Ser Single submitter
- p.Ala49Val Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg11His Single submitter ⚠
- p.Arg145Gln Single submitter Parkinson disease 22, autosomal dominant ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg3Pro Single submitter
- p.Arg51Pro Single submitter ⚠
- p.Asn89His Single submitter ⚠
- p.Cys134Phe Single submitter ⚠
- p.Gln100His Single submitter ⚠
- p.Gln103Arg Single submitter ⚠
- p.Gln120Arg Single submitter ⚠
- p.Gln126Ter Single submitter
- p.Gln21His Single submitter ⚠
- p.Gln52His Single submitter Parkinson disease 22, autosomal dominant ⚠
- p.Gln58His Single submitter ⚠
- p.Glu135Asp Single submitter ⚠
- p.Gly104Glu Single submitter ⚠
- p.Gly149Arg Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly73Trp Single submitter ⚠
- p.Gly82Glu Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Lys132Gln Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met22Val Single submitter ⚠
- p.Met56Thr Single submitter ⚠
- p.Met59Val Single submitter ⚠
- p.Phe121Val Single submitter ⚠
- p.Pro107Arg Single submitter ⚠
- p.Pro53fs Single submitter
- p.Pro95Leu Single submitter ⚠
- p.Ser10Cys Single submitter ⚠
- p.Ser45Ala Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Thr105fs Single submitter
- p.Thr81Ala Single submitter ⚠
- p.Thr81Asn Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Tyr99Cys Single submitter ⚠
- p.Val66Met Single submitter ⚠
- p.Val72Gly Single submitter ⚠