Sugi Variant

Sugi Variant/CD19

CD19 — 412 ClinVar variants

All ClinVar germline CD19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

9 Pathogenic · 7 Likely pathogenic · 17 Conflicting · 13 Benign · 4 Benign/Likely benign · 180 Likely benign · 182 Uncertain significance

Full CD19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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 agree, ClinVar conflicts 6

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 53

The independent predictors disagree with each other — read with care.

All CD19 variants

Pathogenic 9

  • p.Arg321fs Single submitter
  • p.Phe94fs Single submitter
  • p.Ser43Ter Single submitter
  • c.1653_*9delins23 No assertion criteria immunodeficiency, common variable, 3
  • c.947-1G>T No assertion criteria immunodeficiency, common variable, 3
  • p.Arg325fs No assertion criteria immunodeficiency, common variable, 3
  • p.Asn463fs No assertion criteria immunodeficiency, common variable, 3
  • p.Ser489fs No assertion criteria immunodeficiency, common variable, 3
  • p.Trp52Cys No assertion criteria immunodeficiency, common variable, 3

Likely pathogenic 7

Conflicting classifications of pathogenicity 17

  • c.1487-11C>G Single submitter immunodeficiency, common variable, 3
  • c.1580-14C>T Single submitter immunodeficiency, common variable, 3
  • c.1580-4C>A Single submitter immunodeficiency, common variable, 3
  • c.836-13C>G Single submitter immunodeficiency, common variable, 3
  • p.Ala387Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala473Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg277Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg549His Single submitter Inborn genetic diseases ⚠
  • p.Arg5Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn457= Single submitter immunodeficiency, common variable, 3
  • p.Asp128= Single submitter immunodeficiency, common variable, 3
  • p.Gln108Pro Single submitter immunodeficiency, common variable, 3 ⚠
  • p.Gln49= Single submitter immunodeficiency, common variable, 3
  • p.Gly130= Single submitter immunodeficiency, common variable, 3
  • p.Leu132Arg Single submitter immunodeficiency, common variable, 3 ⚠
  • p.Pro57= Single submitter immunodeficiency, common variable, 3
  • p.Ser425Phe Single submitter immunodeficiency, common variable, 3 ⚠

Benign 13

Benign/Likely benign 4

  • p.Arg514His Multiple submitters immunodeficiency, common variable, 3
  • p.Leu136= Multiple submitters immunodeficiency, common variable, 3
  • p.Ser127= Multiple submitters immunodeficiency, common variable, 3
  • p.Ser437= Multiple submitters immunodeficiency, common variable, 3

Likely benign 180

Uncertain significance 182