COX19 — 16 ClinVar variants
All ClinVar germline COX19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Likely benign · 14 Uncertain significance
Full COX19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX19 p.Ala49Gly Uncertain significance Single submitter
- COX19 p.Asn43Lys Uncertain significance Single submitter
- COX19 p.Asn6Ser Uncertain significance Single submitter
- COX19 p.Asp25His Uncertain significance Single submitter
- COX19 p.Asp25Tyr Uncertain significance Single submitter
- COX19 p.Cys40Arg Uncertain significance Single submitter
- COX19 p.Glu60Gln Uncertain significance Single submitter
- COX19 p.Met5Val Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- COX19 p.Asn44Ser Uncertain significance Single submitter
- COX19 p.His26Leu Uncertain significance Single submitter
- COX19 p.Leu59Phe Uncertain significance Single submitter
- COX19 p.Pro14Ala Uncertain significance Single submitter
- COX19 p.Pro16Ser Uncertain significance Single submitter
- COX19 p.Ser2Leu Uncertain significance Single submitter
All COX19 variants
Likely benign 2
- p.His42Arg Single submitter
- p.Lys66Gln Single submitter
Uncertain significance 14
- p.Ala49Gly Single submitter ⚠
- p.Asn43Lys Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asn6Ser Single submitter ⚠
- p.Asp25His Single submitter ⚠
- p.Asp25Tyr Single submitter ⚠
- p.Cys40Arg Single submitter ⚠
- p.Glu60Gln Single submitter ⚠
- p.His26Leu Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Met5Val Single submitter ⚠
- p.Pro14Ala Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Ser2Leu Single submitter ⚠