CELF4 — 102 ClinVar variants
All ClinVar germline CELF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
2 Conflicting · 5 Benign · 1 Benign/Likely benign · 17 Likely benign · 77 Uncertain significance
Full CELF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CELF4 p.Gly193Val
Uncertain significance
Multiple submitters
neurodevelopmental disorder
- CELF4 p.Ala108Val Uncertain significance Single submitter
- CELF4 p.Ala205Thr Uncertain significance Single submitter
- CELF4 p.Ala221Val Uncertain significance Single submitter
- CELF4 p.Ala359Thr Uncertain significance Single submitter
- CELF4 p.Ala458Val Uncertain significance Single submitter
- CELF4 p.Arg145Cys Uncertain significance Single submitter
- CELF4 p.Arg145His Uncertain significance Single submitter
- CELF4 p.Cys181Arg Uncertain significance Single submitter
- CELF4 p.Glu75Lys Uncertain significance Single submitter
- CELF4 p.Glu82Gly Uncertain significance Single submitter
- CELF4 p.Gly123Arg Uncertain significance Single submitter
-
CELF4 p.Gly186Ala
Uncertain significance
Single submitter
neurodevelopmental disorder
- CELF4 p.Gly186Glu Uncertain significance Single submitter
- CELF4 p.Gly420Val Uncertain significance Single submitter
-
CELF4 p.His116Gln
Uncertain significance
Single submitter
neurodevelopmental disorder
- CELF4 p.His116Leu Uncertain significance Single submitter
- CELF4 p.Ile183Val Uncertain significance Single submitter
- CELF4 p.Ile256Phe Uncertain significance Single submitter
- CELF4 p.Ile362Val Uncertain significance Single submitter
- CELF4 p.Ile3Val Uncertain significance Single submitter
- CELF4 p.Leu144Pro Uncertain significance Single submitter
- CELF4 p.Leu18Ile Uncertain significance Single submitter
- CELF4 p.Met409Val Uncertain significance Single submitter
- CELF4 p.Met462Val Uncertain significance Single submitter
- CELF4 p.Pro147Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CELF4 p.Ala211Glu Uncertain significance Single submitter
- CELF4 p.Ala211Gly Uncertain significance Single submitter
- CELF4 p.Ala211Thr Uncertain significance Single submitter
- CELF4 p.Ala267Gly Uncertain significance Single submitter
- CELF4 p.Ala273Val Likely benign Single submitter
- CELF4 p.Ala292Thr Uncertain significance Single submitter
- CELF4 p.Ala294Thr Likely benign Single submitter
- CELF4 p.Ala354Val Uncertain significance Single submitter
- CELF4 p.Ala372Thr Uncertain significance Single submitter
- CELF4 p.Ala381Thr Uncertain significance Single submitter
- CELF4 p.Ala435Thr Uncertain significance Single submitter
- CELF4 p.Ala453Gly Uncertain significance Single submitter
- CELF4 p.Arg170Leu Uncertain significance Single submitter
- CELF4 p.Asn339Ser Uncertain significance Single submitter
- CELF4 p.Asn349Ser Uncertain significance Single submitter
- CELF4 p.Asn34Lys Uncertain significance Single submitter
- CELF4 p.Asp374Glu Uncertain significance Single submitter
- CELF4 p.Asp66Asn Uncertain significance Single submitter
- CELF4 p.Glu179Asp Uncertain significance Single submitter
- CELF4 p.Gly246Ser Uncertain significance Single submitter
- CELF4 p.Gly262Ser Uncertain significance Single submitter
-
CELF4 p.Leu159Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- CELF4 p.Leu285Pro Uncertain significance Single submitter
-
CELF4 p.Pro219Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CELF4 p.Pro333Leu Uncertain significance Single submitter
- CELF4 p.Pro346Ser Uncertain significance Single submitter
- CELF4 p.Pro370Leu Uncertain significance Single submitter
- CELF4 p.Pro406Leu Uncertain significance Single submitter
- CELF4 p.Pro452Ala Uncertain significance Single submitter
- CELF4 p.Ser25Asn Uncertain significance Single submitter
- CELF4 p.Ser454Gly Uncertain significance Single submitter
- CELF4 p.Thr7Met Uncertain significance Single submitter
- CELF4 p.Val227Ile Uncertain significance Single submitter
- CELF4 p.Val329Met Uncertain significance Single submitter
-
CELF4 p.Gln414His
Uncertain significance
No assertion criteria
CELF4-related disorder
All CELF4 variants
Conflicting classifications of pathogenicity 2
- p.Pro346fs Single submitter neurodevelopmental disorder
- p.Tyr264Ter Single submitter Developmental disorder
Benign 5
- p.Pro127= Multiple submitters
- p.Pro406= Multiple submitters
- p.Val338Met Single submitter
- c.801+7G>A No assertion criteria CELF4-related disorder
- p.Ala328= No assertion criteria CELF4-related disorder
Benign/Likely benign 1
- p.Ala381= Multiple submitters
Likely benign 17
- c.949+3G>A Single submitter
- p.Ala133= Single submitter
- p.Ala273Val Single submitter ⚠
- p.Ala280Thr Single submitter
- p.Ala294Thr Single submitter ⚠
- p.Ala300= Single submitter
- p.Ala373Thr Single submitter
- p.Asp434= Single submitter
- p.Gly343Ser Single submitter
- p.Leu73Ile Single submitter
- p.Met312Ile Single submitter
- p.Pro219Arg Single submitter
- p.Ala310= No assertion criteria CELF4-related disorder
- p.Asp69= No assertion criteria CELF4-related disorder
- p.Leu109= No assertion criteria CELF4-related disorder
- p.Phe358= No assertion criteria CELF4-related disorder
- p.Val279= No assertion criteria CELF4-related disorder
Uncertain significance 77
- p.Gly193Val Multiple submitters neurodevelopmental disorder ⚠
- c.287-5_300del Single submitter neurodevelopmental disorder
- c.370-67640C>A Single submitter neurodevelopmental disorder
- c.577+2T>G Single submitter neurodevelopmental disorder
- c.801+1G>C Single submitter CELF4-related disorder
- p.Ala108Val Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala211Glu Single submitter ⚠
- p.Ala211Gly Single submitter ⚠
- p.Ala211Thr Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala267Gly Single submitter ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala359Thr Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala453Gly Single submitter ⚠
- p.Ala458Val Single submitter ⚠
- p.Arg138Ter Single submitter neurodevelopmental disorder
- p.Arg145Cys Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg170Leu Single submitter ⚠
- p.Asn339Ser Single submitter ⚠
- p.Asn349Ser Single submitter ⚠
- p.Asn34Lys Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp66Asn Single submitter ⚠
- p.Cys181Arg Single submitter ⚠
- p.Cys194Ter Single submitter neurodevelopmental disorder
- p.Gln266Ter Single submitter
- p.Gln270Ter Single submitter
- p.Gln271Ter Single submitter neurodevelopmental disorder
- p.Gln401fs Single submitter
- p.Glu106Ter Single submitter
- p.Glu117Ter Single submitter neurodevelopmental disorder
- p.Glu179Asp Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Glu76Ter Single submitter
- p.Glu82Gly Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly186Ala Single submitter neurodevelopmental disorder ⚠
- p.Gly186Glu Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly420Val Single submitter ⚠
- p.His116Gln Single submitter neurodevelopmental disorder ⚠
- p.His116Leu Single submitter ⚠
- p.Ile183Val Single submitter ⚠
- p.Ile256Phe Single submitter ⚠
- p.Ile362Val Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu159Val Single submitter neurodevelopmental disorder ⚠
- p.Leu18Ile Single submitter ⚠
- p.Leu285Pro Single submitter ⚠
- p.Leu86fs Single submitter
- p.Lys119del Single submitter
- p.Lys234fs Single submitter
- p.Met409Val Single submitter ⚠
- p.Met462Val Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro219Thr Single submitter Inborn genetic diseases ⚠
- p.Pro321fs Single submitter
- p.Pro333Leu Single submitter ⚠
- p.Pro346Ser Single submitter ⚠
- p.Pro370Leu Single submitter ⚠
- p.Pro406Leu Single submitter ⚠
- p.Pro452Ala Single submitter ⚠
- p.Ser25Asn Single submitter ⚠
- p.Ser454Gly Single submitter ⚠
- p.Thr7Met Single submitter ⚠
- p.Val227Ile Single submitter ⚠
- p.Val329Met Single submitter ⚠
- c.658-152G>A No assertion criteria myoepithelial tumor
- p.Gln414His No assertion criteria CELF4-related disorder ⚠