Sugi Variant

Sugi Variant/CSF2RB

CSF2RB — 863 ClinVar variants

All ClinVar germline CSF2RB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 436 flagged for review →

1 Pathogenic · 22 Conflicting · 43 Benign · 21 Benign/Likely benign · 306 Likely benign · 470 Uncertain significance

Full CSF2RB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 436

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 19

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 386

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 386

Predictors split 29

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

All CSF2RB variants

Pathogenic 1

  • p.Arg211fs No assertion criteria surfactant metabolism dysfunction, pulmonary, 5

Conflicting classifications of pathogenicity 22

Benign 43

Benign/Likely benign 21

Likely benign 306

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 470

Showing the top 300 by review status; the full set is in the sitemap.