CELF6 — 66 ClinVar variants
All ClinVar germline CELF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
4 Benign · 4 Likely benign · 58 Uncertain significance
Full CELF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELF6 p.Ala295Thr Uncertain significance Single submitter
- CELF6 p.Ala358Thr Uncertain significance Single submitter
- CELF6 p.Ala96Ser Uncertain significance Single submitter
- CELF6 p.Ala9Ser Uncertain significance Single submitter
- CELF6 p.Asp430Asn Uncertain significance Single submitter
- CELF6 p.Cys243Phe Uncertain significance Single submitter
- CELF6 p.Gln60Arg Uncertain significance Single submitter
- CELF6 p.Glu109Lys Uncertain significance Single submitter
- CELF6 p.Glu411Ala Uncertain significance Single submitter
- CELF6 p.Gly139Glu Uncertain significance Single submitter
- CELF6 p.Gly19Ser Uncertain significance Single submitter
- CELF6 p.Gly395Ser Uncertain significance Single submitter
- CELF6 p.Leu309Ile Uncertain significance Single submitter
- CELF6 p.Met276Leu Uncertain significance Single submitter
- CELF6 p.Pro239Thr Uncertain significance Single submitter
- CELF6 p.Pro299Ala Uncertain significance Single submitter
- CELF6 p.Pro34Ser Uncertain significance Single submitter
- CELF6 p.Pro386Ser Uncertain significance Single submitter
- CELF6 p.Ser173Arg Uncertain significance Single submitter
- CELF6 p.Ser173Thr Uncertain significance Single submitter
- CELF6 p.Thr199Ile Uncertain significance Single submitter
- CELF6 p.Thr452Ala Uncertain significance Single submitter
- CELF6 p.Tyr401Cys Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- CELF6 p.Met40Thr Benign Multiple submitters
- CELF6 p.Ala189Glu Uncertain significance Single submitter
- CELF6 p.Ala255Glu Uncertain significance Single submitter
- CELF6 p.Ala344Asp Uncertain significance Single submitter
- CELF6 p.Ala364Pro Uncertain significance Single submitter
- CELF6 p.Arg130Gln Uncertain significance Single submitter
- CELF6 p.Arg218Gly Uncertain significance Single submitter
- CELF6 p.Arg479Trp Uncertain significance Single submitter
- CELF6 p.Arg97Gln Uncertain significance Single submitter
- CELF6 p.Asn326Lys Uncertain significance Single submitter
- CELF6 p.Asp215Ala Uncertain significance Single submitter
- CELF6 p.Asp476Tyr Uncertain significance Single submitter
- CELF6 p.Gln262Arg Uncertain significance Single submitter
- CELF6 p.Gln387His Uncertain significance Single submitter
- CELF6 p.Gln455Glu Uncertain significance Single submitter
- CELF6 p.Glu128Gly Uncertain significance Single submitter
- CELF6 p.Glu161Gln Uncertain significance Single submitter
- CELF6 p.Gly241Arg Uncertain significance Single submitter
- CELF6 p.His362Tyr Uncertain significance Single submitter
- CELF6 p.Ile400Val Uncertain significance Single submitter
- CELF6 p.Leu230Arg Uncertain significance Single submitter
- CELF6 p.Leu240Val Uncertain significance Single submitter
- CELF6 p.Met464Thr Uncertain significance Single submitter
- CELF6 p.Met464Val Uncertain significance Single submitter
- CELF6 p.Phe178Leu Uncertain significance Single submitter
- CELF6 p.Phe282Leu Uncertain significance Single submitter
- CELF6 p.Pro169Arg Uncertain significance Single submitter
- CELF6 p.Pro169Thr Uncertain significance Single submitter
- CELF6 p.Ser331Cys Uncertain significance Single submitter
- CELF6 p.Ser346Arg Uncertain significance Single submitter
- CELF6 p.Ser369Trp Uncertain significance Single submitter
- CELF6 p.Thr214Ser Uncertain significance Single submitter
- CELF6 p.Tyr335His Uncertain significance Single submitter
- CELF6 p.Tyr363His Uncertain significance Single submitter
- CELF6 p.Tyr371Cys Uncertain significance Single submitter
- CELF6 p.Val422Ile Uncertain significance Single submitter
All CELF6 variants
Benign 4
- p.Met40Thr Multiple submitters ⚠
- c.1175-7C>T Single submitter
- p.Gly31Val Single submitter
- p.Gly7= No assertion criteria CELF6-related disorder
Likely benign 4
- c.346-13C>T Single submitter
- p.Arg192Gln Single submitter
- p.Asn336His Single submitter
- p.Asn33His Single submitter
Uncertain significance 58
- p.Ala189Glu Single submitter ⚠
- p.Ala255Glu Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala344Asp Single submitter ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala364Pro Single submitter ⚠
- p.Ala96Ser Single submitter ⚠
- p.Ala9Ser Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg218Gly Single submitter ⚠
- p.Arg479Trp Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Asn326Lys Single submitter ⚠
- p.Asp215Ala Single submitter ⚠
- p.Asp430Asn Single submitter ⚠
- p.Asp476Tyr Single submitter ⚠
- p.Cys243Phe Single submitter ⚠
- p.Gln262Arg Single submitter ⚠
- p.Gln387His Single submitter ⚠
- p.Gln455Glu Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu128Gly Single submitter ⚠
- p.Glu161Gln Single submitter ⚠
- p.Glu411Ala Single submitter ⚠
- p.Gly139Glu Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly241Arg Single submitter ⚠
- p.Gly395Ser Single submitter ⚠
- p.His362Tyr Single submitter ⚠
- p.Ile400Val Single submitter ⚠
- p.Leu230Arg Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu309Ile Single submitter ⚠
- p.Met276Leu Single submitter ⚠
- p.Met464Thr Single submitter ⚠
- p.Met464Val Single submitter ⚠
- p.Phe178Leu Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Pro169Arg Single submitter ⚠
- p.Pro169Thr Single submitter ⚠
- p.Pro239Thr Single submitter ⚠
- p.Pro299Ala Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Ser173Arg Single submitter ⚠
- p.Ser173Thr Single submitter ⚠
- p.Ser331Cys Single submitter ⚠
- p.Ser346Arg Single submitter ⚠
- p.Ser369Trp Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr452Ala Single submitter ⚠
- p.Tyr335His Single submitter ⚠
- p.Tyr363His Single submitter ⚠
- p.Tyr371Cys Single submitter ⚠
- p.Tyr401Cys Single submitter ⚠
- p.Val422Ile Single submitter ⚠