CSF2 — 19 ClinVar variants
All ClinVar germline CSF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
3 Benign · 6 Likely benign · 10 Uncertain significance
Full CSF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 9
The independent predictors disagree with each other — read with care.
- CSF2 p.Arg21Cys Uncertain significance Single submitter
- CSF2 p.Arg41His Uncertain significance Single submitter
- CSF2 p.Arg84Gln Likely benign Single submitter
- CSF2 p.Arg84Pro Uncertain significance Single submitter
- CSF2 p.Leu127Met Uncertain significance Single submitter
- CSF2 p.Met53Thr Uncertain significance Single submitter
- CSF2 p.Phe136Leu Uncertain significance Single submitter
- CSF2 p.Pro109Leu Likely benign Single submitter
- CSF2 p.Ser17Cys Uncertain significance Single submitter
All CSF2 variants
Likely benign 6
- p.Thr115Ile Multiple submitters
- p.Ala20Thr Single submitter
- p.Arg84Gln Single submitter ⚠
- p.Pro109= Single submitter
- p.Pro109Leu Single submitter ⚠
- p.Ser22Leu Single submitter
Uncertain significance 10
- p.Ala13Thr Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg84Pro Single submitter ⚠
- p.Glu52Asp Single submitter ⚠
- p.Leu127Met Single submitter ⚠
- p.Met53Thr Single submitter ⚠
- p.Phe136Leu Single submitter ⚠
- p.Pro106Thr Single submitter ⚠
- p.Ser17Cys Single submitter ⚠