CTCFL — 109 ClinVar variants
All ClinVar germline CTCFL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
2 Benign · 11 Likely benign · 96 Uncertain significance
Full CTCFL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTCFL p.Ala155Ser Uncertain significance Single submitter
- CTCFL p.Ala155Thr Uncertain significance Single submitter
- CTCFL p.Ala253Thr Uncertain significance Single submitter
- CTCFL p.Ala321Thr Uncertain significance Single submitter
- CTCFL p.Ala434Thr Uncertain significance Single submitter
- CTCFL p.Ala438Thr Uncertain significance Single submitter
- CTCFL p.Ala494Val Uncertain significance Single submitter
- CTCFL p.Ala642Thr Uncertain significance Single submitter
- CTCFL p.Arg211Ile Uncertain significance Single submitter
- CTCFL p.Arg359Leu Uncertain significance Single submitter
- CTCFL p.Arg362Gln Uncertain significance Single submitter
- CTCFL p.Arg368Ser Uncertain significance Single submitter
- CTCFL p.Arg387Cys Uncertain significance Single submitter
- CTCFL p.Arg563Lys Uncertain significance Single submitter
- CTCFL p.Arg643Ser Uncertain significance Single submitter
- CTCFL p.Asn659Lys Uncertain significance Single submitter
- CTCFL p.Cys259Ser Uncertain significance Single submitter
- CTCFL p.Cys259Tyr Uncertain significance Single submitter
- CTCFL p.Cys344Arg Uncertain significance Single submitter
- CTCFL p.Cys36Arg Uncertain significance Single submitter
- CTCFL p.Gln105Glu Uncertain significance Single submitter
- CTCFL p.Gln230Glu Uncertain significance Single submitter
- CTCFL p.Gln599Arg Uncertain significance Single submitter
- CTCFL p.Glu106Gln Uncertain significance Single submitter
- CTCFL p.Glu158Asp Uncertain significance Single submitter
- CTCFL p.Glu184Gln Uncertain significance Single submitter
- CTCFL p.Glu20Lys Uncertain significance Single submitter
- CTCFL p.Glu327Gln Uncertain significance Single submitter
- CTCFL p.Glu619Asp Uncertain significance Single submitter
- CTCFL p.Glu619Val Uncertain significance Single submitter
- CTCFL p.His279Tyr Uncertain significance Single submitter
- CTCFL p.His285Tyr Uncertain significance Single submitter
- CTCFL p.His468Arg Uncertain significance Single submitter
- CTCFL p.Ile136Val Uncertain significance Single submitter
- CTCFL p.Ile559Val Uncertain significance Single submitter
- CTCFL p.Leu192Ser Uncertain significance Single submitter
- CTCFL p.Leu561Pro Uncertain significance Single submitter
- CTCFL p.Lys197Arg Uncertain significance Single submitter
- CTCFL p.Lys245Glu Uncertain significance Single submitter
- CTCFL p.Lys249Arg Uncertain significance Single submitter
- CTCFL p.Lys39Arg Uncertain significance Single submitter
- CTCFL p.Lys427Ile Uncertain significance Single submitter
- CTCFL p.Lys604Asn Uncertain significance Single submitter
- CTCFL p.Met346Val Uncertain significance Single submitter
- CTCFL p.Met97Val Uncertain significance Single submitter
- CTCFL p.Pro341Arg Uncertain significance Single submitter
- CTCFL p.Pro44His Uncertain significance Single submitter
- CTCFL p.Pro44Ser Uncertain significance Single submitter
- CTCFL p.Ser129Ile Uncertain significance Single submitter
- CTCFL p.Ser137Asn Uncertain significance Single submitter
- CTCFL p.Ser137Gly Uncertain significance Single submitter
- CTCFL p.Ser167Asn Uncertain significance Single submitter
- CTCFL p.Ser43Arg Uncertain significance Single submitter
- CTCFL p.Ser45Thr Uncertain significance Single submitter
- CTCFL p.Ser75Arg Uncertain significance Single submitter
- CTCFL p.Thr177Pro Uncertain significance Single submitter
- CTCFL p.Thr196Lys Uncertain significance Single submitter
- CTCFL p.Thr308Ile Uncertain significance Single submitter
- CTCFL p.Thr584Ala Uncertain significance Single submitter
- CTCFL p.Thr623Lys Uncertain significance Single submitter
- CTCFL p.Thr653Ala Uncertain significance Single submitter
- CTCFL p.Tyr143Cys Uncertain significance Single submitter
- CTCFL p.Val108Met Uncertain significance Single submitter
- CTCFL p.Val329Ile Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- CTCFL p.Arg406His Uncertain significance Single submitter
- CTCFL p.Arg499His Uncertain significance Single submitter
- CTCFL p.Arg506Cys Uncertain significance Single submitter
- CTCFL p.Arg524Gln Uncertain significance Single submitter
- CTCFL p.Asn246Tyr Uncertain significance Single submitter
- CTCFL p.Asp237His Uncertain significance Single submitter
- CTCFL p.Asp260Gly Uncertain significance Single submitter
- CTCFL p.Glu187Val Uncertain significance Single submitter
- CTCFL p.Glu30Lys Uncertain significance Single submitter
- CTCFL p.Glu30Val Uncertain significance Single submitter
- CTCFL p.Glu423Lys Uncertain significance Single submitter
- CTCFL p.Glu647Lys Uncertain significance Single submitter
- CTCFL p.Gly552Asp Uncertain significance Single submitter
- CTCFL p.His500Arg Uncertain significance Single submitter
- CTCFL p.Ile136Ser Uncertain significance Single submitter
- CTCFL p.Ile402Thr Uncertain significance Single submitter
- CTCFL p.Leu120Pro Uncertain significance Single submitter
- CTCFL p.Leu82Arg Uncertain significance Single submitter
- CTCFL p.Lys496Glu Uncertain significance Single submitter
- CTCFL p.Met320Val Uncertain significance Single submitter
- CTCFL p.Met413Val Uncertain significance Single submitter
- CTCFL p.Phe628Leu Uncertain significance Single submitter
- CTCFL p.Pro284Ser Uncertain significance Single submitter
- CTCFL p.Pro426Ala Uncertain significance Single submitter
- CTCFL p.Pro431Leu Uncertain significance Single submitter
- CTCFL p.Ser212Cys Uncertain significance Single submitter
- CTCFL p.Ser243Cys Uncertain significance Single submitter
- CTCFL p.Ser363Ala Uncertain significance Single submitter
- CTCFL p.Ser518Pro Uncertain significance Single submitter
- CTCFL p.Thr218Arg Uncertain significance Single submitter
- CTCFL p.Thr391Met Uncertain significance Single submitter
- CTCFL p.Thr596Ile Uncertain significance Single submitter
All CTCFL variants
Benign 2
- p.Ser172= Multiple submitters
- p.Val652Met Multiple submitters
Likely benign 11
- p.Ala155Val Single submitter
- p.Ala238= Single submitter
- p.Asn611= Single submitter
- p.Gln589Pro Single submitter
- p.Gly422Ser Single submitter
- p.Gly612Arg Single submitter
- p.Lys521= Single submitter
- p.Met22Ile Single submitter
- p.Ser212Arg Single submitter
- p.Thr660Met Single submitter
- p.Gln688His No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 96
- p.Ala155Ser Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala321Thr Single submitter ⚠
- p.Ala434Thr Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala494Val Single submitter ⚠
- p.Ala642Thr Single submitter ⚠
- p.Arg211Ile Single submitter ⚠
- p.Arg359Leu Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg368Ser Single submitter ⚠
- p.Arg387Cys Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg499His Single submitter ⚠
- p.Arg506Cys Single submitter ⚠
- p.Arg524Gln Single submitter ⚠
- p.Arg563Lys Single submitter ⚠
- p.Arg643Ser Single submitter ⚠
- p.Asn246Tyr Single submitter ⚠
- p.Asn659Lys Single submitter ⚠
- p.Asp237His Single submitter ⚠
- p.Asp260Gly Single submitter ⚠
- p.Cys259Ser Single submitter ⚠
- p.Cys259Tyr Single submitter ⚠
- p.Cys344Arg Single submitter ⚠
- p.Cys36Arg Single submitter ⚠
- p.Gln105Glu Single submitter ⚠
- p.Gln230Glu Single submitter ⚠
- p.Gln599Arg Single submitter ⚠
- p.Glu106Gln Single submitter ⚠
- p.Glu158Asp Single submitter ⚠
- p.Glu184Gln Single submitter ⚠
- p.Glu187Val Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu30Val Single submitter ⚠
- p.Glu327Gln Single submitter ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu619Asp Single submitter ⚠
- p.Glu619Val Single submitter ⚠
- p.Glu647Lys Single submitter ⚠
- p.Gly552Asp Single submitter ⚠
- p.His279Tyr Single submitter ⚠
- p.His285Tyr Single submitter ⚠
- p.His468Arg Single submitter ⚠
- p.His500Arg Single submitter ⚠
- p.Ile136Ser Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile402Thr Single submitter ⚠
- p.Ile559Val Single submitter ⚠
- p.Leu120Pro Single submitter ⚠
- p.Leu192Ser Single submitter ⚠
- p.Leu561Pro Single submitter ⚠
- p.Leu82Arg Single submitter ⚠
- p.Lys197Arg Single submitter ⚠
- p.Lys245Glu Single submitter ⚠
- p.Lys249Arg Single submitter ⚠
- p.Lys39Arg Single submitter ⚠
- p.Lys427Ile Single submitter ⚠
- p.Lys496Glu Single submitter ⚠
- p.Lys604Asn Single submitter ⚠
- p.Met320Val Single submitter ⚠
- p.Met346Val Single submitter ⚠
- p.Met413Val Single submitter ⚠
- p.Met97Val Single submitter ⚠
- p.Phe628Leu Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro341Arg Single submitter ⚠
- p.Pro426Ala Single submitter ⚠
- p.Pro431Leu Single submitter ⚠
- p.Pro44His Single submitter ⚠
- p.Pro44Ser Single submitter ⚠
- p.Ser129Ile Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser137Gly Single submitter ⚠
- p.Ser167Asn Single submitter ⚠
- p.Ser212Cys Single submitter ⚠
- p.Ser243Cys Single submitter ⚠
- p.Ser363Ala Single submitter ⚠
- p.Ser43Arg Single submitter ⚠
- p.Ser45Thr Single submitter ⚠
- p.Ser518Pro Single submitter ⚠
- p.Ser75Arg Single submitter ⚠
- p.Thr177Pro Single submitter ⚠
- p.Thr196Lys Single submitter ⚠
- p.Thr218Arg Single submitter ⚠
- p.Thr308Ile Single submitter ⚠
- p.Thr391Met Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr596Ile Single submitter ⚠
- p.Thr623Lys Single submitter ⚠
- p.Thr653Ala Single submitter ⚠
- p.Tyr143Cys Single submitter ⚠
- p.Val108Met Single submitter ⚠
- p.Val329Ile Single submitter ⚠