CPSF2 — 59 ClinVar variants
All ClinVar germline CPSF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
2 Likely benign · 57 Uncertain significance
Full CPSF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPSF2 p.Arg366Cys Uncertain significance Single submitter
- CPSF2 p.Arg449His Uncertain significance Single submitter
- CPSF2 p.Arg751His Uncertain significance Single submitter
- CPSF2 p.Asp100Gly Uncertain significance Single submitter
- CPSF2 p.Asp43Asn Uncertain significance Single submitter
- CPSF2 p.Asp632Val Uncertain significance Single submitter
- CPSF2 p.Glu695Asp Uncertain significance Single submitter
- CPSF2 p.Gly152Val Uncertain significance Single submitter
- CPSF2 p.Gly262Ser Uncertain significance Single submitter
- CPSF2 p.Gly657Arg Uncertain significance Single submitter
- CPSF2 p.Gly732Arg Uncertain significance Single submitter
- CPSF2 p.Ile146Val Uncertain significance Single submitter
- CPSF2 p.Ile343Met Uncertain significance Single submitter
- CPSF2 p.Ile417Thr Uncertain significance Single submitter
- CPSF2 p.Ile429Thr Uncertain significance Single submitter
- CPSF2 p.Ile529Val Uncertain significance Single submitter
- CPSF2 p.Ile697Asn Uncertain significance Single submitter
- CPSF2 p.Ile697Val Uncertain significance Single submitter
- CPSF2 p.Leu333Met Uncertain significance Single submitter
- CPSF2 p.Leu364Ser Uncertain significance Single submitter
- CPSF2 p.Leu66Val Uncertain significance Single submitter
- CPSF2 p.Lys641Thr Uncertain significance Single submitter
- CPSF2 p.Met463Leu Uncertain significance Single submitter
- CPSF2 p.Ser329Asn Uncertain significance Single submitter
- CPSF2 p.Ser460Ala Uncertain significance Single submitter
- CPSF2 p.Thr437Met Uncertain significance Single submitter
- CPSF2 p.Val223Ala Uncertain significance Single submitter
- CPSF2 p.Val284Ile Uncertain significance Single submitter
- CPSF2 p.Val535Phe Uncertain significance Single submitter
- CPSF2 p.Val672Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CPSF2 p.Ala267Val Uncertain significance Single submitter
- CPSF2 p.Arg105Gln Uncertain significance Single submitter
- CPSF2 p.Arg366His Uncertain significance Single submitter
- CPSF2 p.Arg534Gln Uncertain significance Single submitter
- CPSF2 p.Arg579His Uncertain significance Single submitter
- CPSF2 p.Arg730Gln Uncertain significance Single submitter
- CPSF2 p.Asp340Ala Uncertain significance Single submitter
- CPSF2 p.Asp655Val Uncertain significance Single submitter
- CPSF2 p.Asp773His Uncertain significance Single submitter
- CPSF2 p.Glu530Asp Uncertain significance Single submitter
- CPSF2 p.Glu731Gly Uncertain significance Single submitter
- CPSF2 p.Gly139Asp Uncertain significance Single submitter
- CPSF2 p.His594Arg Uncertain significance Single submitter
- CPSF2 p.Leu10Val Uncertain significance Single submitter
- CPSF2 p.Leu19Ile Uncertain significance Single submitter
- CPSF2 p.Leu396Val Uncertain significance Single submitter
- CPSF2 p.Met42Val Uncertain significance Single submitter
- CPSF2 p.Met511Val Uncertain significance Single submitter
- CPSF2 p.Met662Ile Uncertain significance Single submitter
- CPSF2 p.Met662Thr Uncertain significance Single submitter
- CPSF2 p.Pro361Ser Uncertain significance Single submitter
- CPSF2 p.Ser419Cys Uncertain significance Single submitter
- CPSF2 p.Ser694Cys Uncertain significance Single submitter
- CPSF2 p.Thr603Ile Uncertain significance Single submitter
- CPSF2 p.Thr753Met Uncertain significance Single submitter
- CPSF2 p.Val135Met Uncertain significance Single submitter
- CPSF2 p.Val564Ile Uncertain significance Single submitter
All CPSF2 variants
Uncertain significance 57
- p.Ala267Val Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg366Cys Single submitter ⚠
- p.Arg366His Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg534Gln Single submitter ⚠
- p.Arg579His Single submitter ⚠
- p.Arg730Gln Single submitter ⚠
- p.Arg751His Single submitter ⚠
- p.Asp100Gly Single submitter ⚠
- p.Asp340Ala Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp632Val Single submitter ⚠
- p.Asp655Val Single submitter ⚠
- p.Asp773His Single submitter ⚠
- p.Glu530Asp Single submitter ⚠
- p.Glu695Asp Single submitter ⚠
- p.Glu731Gly Single submitter ⚠
- p.Gly139Asp Single submitter ⚠
- p.Gly152Val Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly657Arg Single submitter ⚠
- p.Gly732Arg Single submitter ⚠
- p.His594Arg Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile343Met Single submitter ⚠
- p.Ile417Thr Single submitter ⚠
- p.Ile429Thr Single submitter ⚠
- p.Ile529Val Single submitter ⚠
- p.Ile697Asn Single submitter ⚠
- p.Ile697Val Single submitter ⚠
- p.Leu10Val Single submitter ⚠
- p.Leu19Ile Single submitter ⚠
- p.Leu333Met Single submitter ⚠
- p.Leu364Ser Single submitter ⚠
- p.Leu396Val Single submitter ⚠
- p.Leu66Val Single submitter ⚠
- p.Lys641Thr Single submitter ⚠
- p.Met42Val Single submitter ⚠
- p.Met463Leu Single submitter ⚠
- p.Met511Val Single submitter ⚠
- p.Met662Ile Single submitter ⚠
- p.Met662Thr Single submitter ⚠
- p.Pro361Ser Single submitter ⚠
- p.Ser329Asn Single submitter ⚠
- p.Ser419Cys Single submitter ⚠
- p.Ser460Ala Single submitter ⚠
- p.Ser694Cys Single submitter ⚠
- p.Thr437Met Single submitter ⚠
- p.Thr603Ile Single submitter ⚠
- p.Thr753Met Single submitter ⚠
- p.Val135Met Single submitter ⚠
- p.Val223Ala Single submitter ⚠
- p.Val284Ile Single submitter ⚠
- p.Val535Phe Single submitter ⚠
- p.Val564Ile Single submitter ⚠
- p.Val672Ile Single submitter ⚠