CD63 — 24 ClinVar variants
All ClinVar germline CD63 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Benign · 2 Likely benign · 20 Uncertain significance
Full CD63 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD63 p.Arg108Ser Uncertain significance Single submitter
- CD63 p.Arg164Gln Uncertain significance Single submitter
- CD63 p.Asn130His Uncertain significance Single submitter
- CD63 p.Glu217Lys Uncertain significance Single submitter
- CD63 p.Gly32Ser Uncertain significance Single submitter
- CD63 p.Ile43Val Uncertain significance Single submitter
- CD63 p.Leu37Val Uncertain significance Single submitter
- CD63 p.Leu92Ile Uncertain significance Single submitter
- CD63 p.Met112Thr Uncertain significance Single submitter
- CD63 p.Phe119Tyr Uncertain significance Single submitter
- CD63 p.Pro49Ser Uncertain significance Single submitter
- CD63 p.Val70Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CD63 p.Gln122His Uncertain significance Single submitter
- CD63 p.Glu189Lys Uncertain significance Single submitter
- CD63 p.Gly6Arg Uncertain significance Single submitter
- CD63 p.Ile157Thr Uncertain significance Single submitter
- CD63 p.Ile195Thr Uncertain significance Single submitter
- CD63 p.Phe119Leu Uncertain significance Single submitter
- CD63 p.Val62Ile Uncertain significance Single submitter
All CD63 variants
Benign 2
- c.426+9G>C Multiple submitters
- p.Asn129= Multiple submitters
Likely benign 2
- p.Ser134Leu Single submitter
- p.Val216= Single submitter
Uncertain significance 20
- p.Arg108Ser Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Asn130His Single submitter ⚠
- p.Gln122His Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu217Lys Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.Ile157Thr Single submitter ⚠
- p.Ile195Thr Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Leu37Val Single submitter ⚠
- p.Leu92Ile Single submitter ⚠
- p.Met112Thr Single submitter ⚠
- p.Phe119Leu Single submitter ⚠
- p.Phe119Tyr Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Val62Ile Single submitter ⚠
- p.Val70Met Single submitter ⚠
- p.Lys162= No assertion criteria