CSF1 — 89 ClinVar variants
All ClinVar germline CSF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
3 Benign · 7 Likely benign · 79 Uncertain significance
Full CSF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSF1 p.Ala286Asp Uncertain significance Single submitter
- CSF1 p.Ala3Thr Uncertain significance Single submitter
- CSF1 p.Ala460Glu Uncertain significance Single submitter
- CSF1 p.Arg449Gln Uncertain significance Single submitter
- CSF1 p.Arg470His Uncertain significance Single submitter
- CSF1 p.Arg98His Uncertain significance Single submitter
- CSF1 p.Asn170Lys Uncertain significance Single submitter
- CSF1 p.Asp131Ala Uncertain significance Single submitter
- CSF1 p.Asp245His Uncertain significance Single submitter
- CSF1 p.Asp396Asn Uncertain significance Single submitter
- CSF1 p.Asp396Glu Uncertain significance Single submitter
- CSF1 p.Gln259Arg Uncertain significance Single submitter
- CSF1 p.Gln545Glu Uncertain significance Single submitter
- CSF1 p.Gln72Arg Uncertain significance Single submitter
- CSF1 p.Glu114Lys Uncertain significance Single submitter
- CSF1 p.Glu155Asp Uncertain significance Single submitter
- CSF1 p.Glu314Gly Uncertain significance Single submitter
- CSF1 p.Glu336Gln Uncertain significance Single submitter
- CSF1 p.Glu454Asp Uncertain significance Single submitter
- CSF1 p.Glu536Gly Uncertain significance Single submitter
- CSF1 p.Gly17Ala Uncertain significance Single submitter
- CSF1 p.Gly276Ser Uncertain significance Single submitter
- CSF1 p.Gly320Val Uncertain significance Single submitter
- CSF1 p.Gly377Val Uncertain significance Single submitter
- CSF1 p.Gly412Ser Uncertain significance Single submitter
- CSF1 p.Gly487Ala Uncertain significance Single submitter
- CSF1 p.His130Arg Uncertain significance Single submitter
- CSF1 p.His130Asn Uncertain significance Single submitter
- CSF1 p.His481Leu Uncertain significance Single submitter
- CSF1 p.Ile315Thr Uncertain significance Single submitter
- CSF1 p.Leu419Arg Uncertain significance Single submitter
- CSF1 p.Leu425Val Uncertain significance Single submitter
- CSF1 p.Phe86Cys Uncertain significance Single submitter
- CSF1 p.Pro104Ala Uncertain significance Single submitter
- CSF1 p.Pro12Arg Uncertain significance Single submitter
- CSF1 p.Pro194Ser Uncertain significance Single submitter
- CSF1 p.Pro254Ser Uncertain significance Single submitter
- CSF1 p.Pro282Thr Uncertain significance Single submitter
- CSF1 p.Pro340Arg Uncertain significance Single submitter
- CSF1 p.Pro351Leu Uncertain significance Single submitter
- CSF1 p.Pro398Leu Uncertain significance Single submitter
- CSF1 p.Pro469His Uncertain significance Single submitter
- CSF1 p.Pro4Ser Uncertain significance Single submitter
- CSF1 p.Ser179Ala Uncertain significance Single submitter
- CSF1 p.Ser428Asn Uncertain significance Single submitter
- CSF1 p.Ser431Leu Uncertain significance Single submitter
- CSF1 p.Ser445Arg Uncertain significance Single submitter
- CSF1 p.Thr156Ile Uncertain significance Single submitter
- CSF1 p.Tyr139Cys Uncertain significance Single submitter
- CSF1 p.Val135Leu Uncertain significance Single submitter
- CSF1 p.Val284Leu Uncertain significance Single submitter
- CSF1 p.Val362Gly Uncertain significance Single submitter
- CSF1 p.Val362Leu Uncertain significance Single submitter
- CSF1 p.Val370Ala Uncertain significance Single submitter
- CSF1 p.Val434Leu Uncertain significance Single submitter
- CSF1 p.Val474Leu Uncertain significance Single submitter
- CSF1 p.Val550Ala Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CSF1 p.Arg252Trp Uncertain significance Single submitter
- CSF1 p.Arg374Met Uncertain significance Single submitter
- CSF1 p.Arg449Trp Uncertain significance Single submitter
- CSF1 p.Arg470Cys Uncertain significance Single submitter
- CSF1 p.Arg523Gln Uncertain significance Single submitter
- CSF1 p.Glu60Asp Uncertain significance Single submitter
- CSF1 p.Gly8Glu Uncertain significance Single submitter
- CSF1 p.His208Tyr Uncertain significance Single submitter
- CSF1 p.Leu211Phe Uncertain significance Single submitter
- CSF1 p.Leu419Phe Uncertain significance Single submitter
- CSF1 p.Pro436His Uncertain significance Single submitter
- CSF1 p.Ser174Ile Uncertain significance Single submitter
- CSF1 p.Ser233Phe Uncertain significance Single submitter
- CSF1 p.Ser248Asn Uncertain significance Single submitter
- CSF1 p.Ser430Phe Uncertain significance Single submitter
- CSF1 p.Ser445Asn Uncertain significance Single submitter
- CSF1 p.Ser62Leu Uncertain significance Single submitter
- CSF1 p.Thr137Ala Uncertain significance Single submitter
- CSF1 p.Trp15Arg Uncertain significance Single submitter
- CSF1 p.Val268Ile Uncertain significance Single submitter
- CSF1 p.Val434Met Uncertain significance Single submitter
- CSF1 p.Val512Ile Uncertain significance Single submitter
All CSF1 variants
Likely benign 7
- p.Ala453Thr Single submitter
- p.Ala531Val Single submitter
- p.Gln526Arg Single submitter
- p.Glu495Gly Single submitter
- p.Pro202Leu Single submitter
- p.Pro318Ser Single submitter
- p.Pro359Leu Single submitter
Uncertain significance 79
- p.Ala286Asp Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala460Glu Single submitter ⚠
- p.Arg252Trp Single submitter ⚠
- p.Arg374Met Single submitter ⚠
- p.Arg449Gln Single submitter ⚠
- p.Arg449Trp Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg523Gln Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asn170Lys Single submitter ⚠
- p.Asp131Ala Single submitter ⚠
- p.Asp245His Single submitter ⚠
- p.Asp396Asn Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Gln259Arg Single submitter ⚠
- p.Gln545Glu Single submitter ⚠
- p.Gln72Arg Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu314Gly Single submitter ⚠
- p.Glu336Gln Single submitter ⚠
- p.Glu454Asp Single submitter ⚠
- p.Glu536Gly Single submitter ⚠
- p.Glu60Asp Single submitter ⚠
- p.Gly17Ala Single submitter ⚠
- p.Gly276Ser Single submitter ⚠
- p.Gly320Val Single submitter ⚠
- p.Gly377Val Single submitter ⚠
- p.Gly412Ser Single submitter ⚠
- p.Gly487Ala Single submitter ⚠
- p.Gly8Glu Single submitter ⚠
- p.His130Arg Single submitter ⚠
- p.His130Asn Single submitter ⚠
- p.His208Tyr Single submitter ⚠
- p.His481Leu Single submitter ⚠
- p.Ile315Thr Single submitter ⚠
- p.Leu211Phe Single submitter ⚠
- p.Leu419Arg Single submitter ⚠
- p.Leu419Phe Single submitter ⚠
- p.Leu425Val Single submitter ⚠
- p.Phe86Cys Single submitter ⚠
- p.Pro104Ala Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro254Ser Single submitter ⚠
- p.Pro282Thr Single submitter ⚠
- p.Pro340Arg Single submitter ⚠
- p.Pro351Leu Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro436His Single submitter ⚠
- p.Pro469His Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Ser174Ile Single submitter ⚠
- p.Ser179Ala Single submitter ⚠
- p.Ser233Phe Single submitter ⚠
- p.Ser248Asn Single submitter ⚠
- p.Ser428Asn Single submitter ⚠
- p.Ser430Phe Single submitter ⚠
- p.Ser431Leu Single submitter ⚠
- p.Ser445Arg Single submitter ⚠
- p.Ser445Asn Single submitter ⚠
- p.Ser62Leu Single submitter ⚠
- p.Thr137Ala Single submitter ⚠
- p.Thr156Ile Single submitter ⚠
- p.Trp15Arg Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠
- p.Val135Leu Single submitter ⚠
- p.Val268Ile Single submitter ⚠
- p.Val284Leu Single submitter ⚠
- p.Val362Gly Single submitter ⚠
- p.Val362Leu Single submitter ⚠
- p.Val370Ala Single submitter ⚠
- p.Val434Leu Single submitter ⚠
- p.Val434Met Single submitter ⚠
- p.Val474Leu Single submitter ⚠
- p.Val512Ile Single submitter ⚠
- p.Val550Ala Single submitter ⚠