CPSF6 — 34 ClinVar variants
All ClinVar germline CPSF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
34 Uncertain significance
Full CPSF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPSF6 p.Asn19Ser Uncertain significance Single submitter
- CPSF6 p.Gln234His Uncertain significance Single submitter
- CPSF6 p.Glu541Asp Uncertain significance Single submitter
- CPSF6 p.Gly213Ser Uncertain significance Single submitter
- CPSF6 p.Gly242Asp Uncertain significance Single submitter
- CPSF6 p.Gly399Glu Uncertain significance Single submitter
- CPSF6 p.Ile470Val Uncertain significance Single submitter
- CPSF6 p.Met370Val Uncertain significance Single submitter
- CPSF6 p.Pro322Leu Uncertain significance Single submitter
- CPSF6 p.Pro58Ala Uncertain significance Single submitter
- CPSF6 p.Val101Ile Uncertain significance Single submitter
- CPSF6 p.Val258Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CPSF6 p.Arg118Trp Uncertain significance Single submitter
- CPSF6 p.Arg206His Uncertain significance Single submitter
- CPSF6 p.Arg272Cys Uncertain significance Single submitter
- CPSF6 p.Arg326His Uncertain significance Single submitter
- CPSF6 p.Arg542His Uncertain significance Single submitter
- CPSF6 p.Arg546Cys Uncertain significance Single submitter
- CPSF6 p.Asp518Glu Uncertain significance Single submitter
- CPSF6 p.Asp54Ala Uncertain significance Single submitter
- CPSF6 p.Gly200Val Uncertain significance Single submitter
- CPSF6 p.Gly329Ala Uncertain significance Single submitter
- CPSF6 p.Ile112Val Uncertain significance Single submitter
- CPSF6 p.Ile37Met Uncertain significance Single submitter
- CPSF6 p.Lys483Arg Uncertain significance Single submitter
- CPSF6 p.Pro212Ser Uncertain significance Single submitter
- CPSF6 p.Pro227Ala Uncertain significance Single submitter
- CPSF6 p.Pro229Ser Uncertain significance Single submitter
- CPSF6 p.Pro288Ser Uncertain significance Single submitter
- CPSF6 p.Pro306Ala Uncertain significance Single submitter
- CPSF6 p.Pro306Thr Uncertain significance Single submitter
- CPSF6 p.Pro383Ala Uncertain significance Single submitter
- CPSF6 p.Val156Ile Uncertain significance Single submitter
All CPSF6 variants
Uncertain significance 34
- p.533DR[2] Single submitter neurodevelopmental disorder
- p.Arg118Trp Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg542His Single submitter ⚠
- p.Arg546Cys Single submitter ⚠
- p.Asn19Ser Single submitter ⚠
- p.Asp518Glu Single submitter ⚠
- p.Asp54Ala Single submitter ⚠
- p.Gln234His Single submitter ⚠
- p.Glu541Asp Single submitter ⚠
- p.Gly200Val Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly242Asp Single submitter ⚠
- p.Gly329Ala Single submitter ⚠
- p.Gly399Glu Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile37Met Single submitter ⚠
- p.Ile470Val Single submitter ⚠
- p.Lys483Arg Single submitter ⚠
- p.Met370Val Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro227Ala Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro288Ser Single submitter ⚠
- p.Pro306Ala Single submitter ⚠
- p.Pro306Thr Single submitter ⚠
- p.Pro322Leu Single submitter ⚠
- p.Pro383Ala Single submitter ⚠
- p.Pro58Ala Single submitter ⚠
- p.Val101Ile Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val258Ile Single submitter ⚠