COMMD2 — 31 ClinVar variants
All ClinVar germline COMMD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Likely benign · 29 Uncertain significance
Full COMMD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COMMD2 p.Ala118Val Uncertain significance Single submitter
- COMMD2 p.Ala136Thr Uncertain significance Single submitter
- COMMD2 p.Ala170Thr Uncertain significance Single submitter
- COMMD2 p.Arg130Gln Uncertain significance Single submitter
- COMMD2 p.Arg196Leu Uncertain significance Single submitter
- COMMD2 p.Gln156His Uncertain significance Single submitter
- COMMD2 p.Gly38Ser Uncertain significance Single submitter
- COMMD2 p.Leu75Pro Uncertain significance Single submitter
- COMMD2 p.Phe34Cys Uncertain significance Single submitter
- COMMD2 p.Ser123Thr Uncertain significance Single submitter
- COMMD2 p.Ser85Thr Uncertain significance Single submitter
- COMMD2 p.Thr162Ile Uncertain significance Single submitter
- COMMD2 p.Thr66Met Uncertain significance Single submitter
- COMMD2 p.Val148Gly Uncertain significance Single submitter
- COMMD2 p.Val62Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- COMMD2 p.Arg196His Uncertain significance Single submitter
- COMMD2 p.Arg29Leu Uncertain significance Single submitter
- COMMD2 p.Arg29Trp Uncertain significance Single submitter
- COMMD2 p.Asn40Thr Uncertain significance Single submitter
- COMMD2 p.Glu26Asp Uncertain significance Single submitter
- COMMD2 p.Glu8Ala Uncertain significance Single submitter
- COMMD2 p.Leu35Val Uncertain significance Single submitter
- COMMD2 p.Ser123Gly Uncertain significance Single submitter
- COMMD2 p.Ser139Arg Uncertain significance Single submitter
- COMMD2 p.Ser55Gly Uncertain significance Single submitter
- COMMD2 p.Ser72Gly Uncertain significance Single submitter
- COMMD2 p.Thr112Met Uncertain significance Single submitter
- COMMD2 p.Tyr67Cys Uncertain significance Single submitter
- COMMD2 p.Val24Ile Uncertain significance Single submitter
All COMMD2 variants
Likely benign 2
- p.Asn52Ser Single submitter
- p.Lys163Arg Single submitter
Uncertain significance 29
- p.Ala118Val Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala170Thr Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg196Leu Single submitter ⚠
- p.Arg29Leu Single submitter ⚠
- p.Arg29Trp Single submitter ⚠
- p.Asn40Thr Single submitter ⚠
- p.Gln156His Single submitter ⚠
- p.Glu26Asp Single submitter ⚠
- p.Glu8Ala Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu75Pro Single submitter ⚠
- p.Phe34Cys Single submitter ⚠
- p.Ser123Gly Single submitter ⚠
- p.Ser123Thr Single submitter ⚠
- p.Ser139Arg Single submitter ⚠
- p.Ser55Gly Single submitter ⚠
- p.Ser72Gly Single submitter ⚠
- p.Ser85Thr Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr162Ile Single submitter ⚠
- p.Thr66Met Single submitter ⚠
- p.Tyr67Cys Single submitter ⚠
- p.Val148Gly Single submitter ⚠
- p.Val24Ile Single submitter ⚠
- p.Val62Met Single submitter ⚠