COX7B2 — 12 ClinVar variants
All ClinVar germline COX7B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
12 Uncertain significance
Full COX7B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX7B2 p.Ala58Val Uncertain significance Single submitter
- COX7B2 p.Asn8Asp Uncertain significance Single submitter
- COX7B2 p.Ile15Thr Uncertain significance Single submitter
- COX7B2 p.Leu10Ile Uncertain significance Single submitter
- COX7B2 p.Leu19Pro Uncertain significance Single submitter
- COX7B2 p.Met22Val Uncertain significance Single submitter
- COX7B2 p.Ser31Leu Uncertain significance Single submitter
- COX7B2 p.Thr47Ser Uncertain significance Single submitter
- COX7B2 p.Trp65Arg Uncertain significance Single submitter
- COX7B2 p.Val55Met Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All COX7B2 variants
Uncertain significance 12
- p.Ala58Val Single submitter ⚠
- p.Asn8Asp Single submitter ⚠
- p.Glu64Ala Single submitter ⚠
- p.Ile15Thr Single submitter ⚠
- p.Leu10Ile Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Met22Val Single submitter ⚠
- p.Pro75Gln Single submitter
- p.Ser31Leu Single submitter ⚠
- p.Thr47Ser Single submitter ⚠
- p.Trp65Arg Single submitter ⚠
- p.Val55Met Single submitter ⚠