CSTF1 — 26 ClinVar variants
All ClinVar germline CSTF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
26 Uncertain significance
Full CSTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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.
- CSTF1 p.Ala68Val Uncertain significance Single submitter
- CSTF1 p.Arg11His Uncertain significance Single submitter
- CSTF1 p.Arg401Cys Uncertain significance Single submitter
- CSTF1 p.Arg71His Uncertain significance Single submitter
- CSTF1 p.Asn36Ser Uncertain significance Single submitter
- CSTF1 p.Asp290Asn Uncertain significance Single submitter
- CSTF1 p.Gln90Glu Uncertain significance Single submitter
- CSTF1 p.Gly7Ser Uncertain significance Single submitter
- CSTF1 p.Ile28Val Uncertain significance Single submitter
- CSTF1 p.Leu197Phe Uncertain significance Single submitter
- CSTF1 p.Lys316Arg Uncertain significance Single submitter
- CSTF1 p.Ser29Asn Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CSTF1 p.Arg221Cys Uncertain significance Single submitter
- CSTF1 p.Arg339Gln Uncertain significance Single submitter
- CSTF1 p.Asn32Ser Uncertain significance Single submitter
- CSTF1 p.Asp372Asn Uncertain significance Single submitter
- CSTF1 p.Gln12Arg Uncertain significance Single submitter
- CSTF1 p.Gln12Leu Uncertain significance Single submitter
- CSTF1 p.Gly306Ser Uncertain significance Single submitter
- CSTF1 p.Gly411Glu Uncertain significance Single submitter
- CSTF1 p.Ile38Met Uncertain significance Single submitter
- CSTF1 p.Lys287Arg Uncertain significance Single submitter
- CSTF1 p.Pro257Leu Uncertain significance Single submitter
- CSTF1 p.Ser254Pro Uncertain significance Single submitter
- CSTF1 p.Thr298Ile Uncertain significance Single submitter
- CSTF1 p.Thr337Met Uncertain significance Single submitter
All CSTF1 variants
Uncertain significance 26
- p.Ala68Val Single submitter ⚠
- p.Arg11His Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg401Cys Single submitter ⚠
- p.Arg71His Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn36Ser Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp372Asn Single submitter ⚠
- p.Gln12Arg Single submitter ⚠
- p.Gln12Leu Single submitter ⚠
- p.Gln90Glu Single submitter ⚠
- p.Gly306Ser Single submitter ⚠
- p.Gly411Glu Single submitter ⚠
- p.Gly7Ser Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile38Met Single submitter ⚠
- p.Leu197Phe Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Lys316Arg Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Ser254Pro Single submitter ⚠
- p.Ser29Asn Single submitter ⚠
- p.Thr298Ile Single submitter ⚠
- p.Thr337Met Single submitter ⚠