CELF2 — 93 ClinVar variants
All ClinVar germline CELF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
7 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Benign · 11 Likely benign · 64 Uncertain significance
Full CELF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELF2 c.-20+85417T>G Uncertain significance Single submitter
- CELF2 p.Ala335Thr Uncertain significance Single submitter
- CELF2 p.Ala382Thr Uncertain significance Single submitter
- CELF2 p.Ala410Thr Uncertain significance Single submitter
- CELF2 p.Ala46Val Uncertain significance Single submitter
- CELF2 p.Arg11Ile Uncertain significance Single submitter
- CELF2 p.Arg169Gln Uncertain significance Single submitter
- CELF2 p.Arg227His Uncertain significance Single submitter
- CELF2 p.Arg82Gln Uncertain significance Single submitter
- CELF2 p.Asn246Ile Uncertain significance Single submitter
- CELF2 p.Cys168Ser Uncertain significance Single submitter
- CELF2 p.Gln124Arg Uncertain significance Single submitter
- CELF2 p.Glu60Gly Uncertain significance Single submitter
- CELF2 p.Gly281Val Uncertain significance Single submitter
-
CELF2 p.Gly503Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 97
- CELF2 p.Lys508Thr Uncertain significance Single submitter
- CELF2 p.Met199Ile Uncertain significance Single submitter
-
CELF2 p.Met339Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 14
- CELF2 p.Met373Thr Uncertain significance Single submitter
-
CELF2 p.Phe97Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 97
- CELF2 p.Pro127Leu Uncertain significance Single submitter
- CELF2 p.Thr302Ala Uncertain significance Single submitter
- CELF2 p.Thr323Ser Uncertain significance Single submitter
-
CELF2 p.Lys197Gln
Uncertain significance
No assertion criteria
developmental and epileptic encephalopathy 97
-
CELF2 p.Pro520Leu
Uncertain significance
No assertion criteria
developmental and epileptic encephalopathy 97
Predictors split 21
The independent predictors disagree with each other — read with care.
- CELF2 p.Val95Leu Uncertain significance Multiple submitters
- CELF2 p.Ala135Thr Uncertain significance Single submitter
- CELF2 p.Ala409Thr Uncertain significance Single submitter
- CELF2 p.Ala492Gly Uncertain significance Single submitter
- CELF2 p.Asn112Ser Uncertain significance Single submitter
- CELF2 p.Asn85Ser Uncertain significance Single submitter
- CELF2 p.Asp43Asn Uncertain significance Single submitter
- CELF2 p.Asp43Glu Uncertain significance Single submitter
- CELF2 p.Asp517Asn Uncertain significance Single submitter
-
CELF2 p.Gly249Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 97
- CELF2 p.His38Asp Uncertain significance Single submitter
- CELF2 p.Ile196Val Uncertain significance Single submitter
- CELF2 p.Leu293Val Uncertain significance Single submitter
- CELF2 p.Leu36Met Uncertain significance Single submitter
- CELF2 p.Met191Val Uncertain significance Single submitter
- CELF2 p.Met282Val Uncertain significance Single submitter
- CELF2 p.Pro161Ser Uncertain significance Single submitter
- CELF2 p.Pro174Leu Uncertain significance Single submitter
- CELF2 p.Pro69Ser Uncertain significance Single submitter
- CELF2 p.Thr386Arg Uncertain significance Single submitter
-
CELF2 p.Tyr74Cys
Uncertain significance
Single submitter
neurodevelopmental disorder
All CELF2 variants
Pathogenic 7
- p.Ala295fs Single submitter developmental and epileptic encephalopathy 97
- p.Arg506His Single submitter developmental and epileptic encephalopathy 97
- p.Arg506Leu Single submitter
- p.Asp451fs Single submitter developmental and epileptic encephalopathy 97
- p.Tyr521Ter Single submitter developmental and epileptic encephalopathy 97
- p.Arg506Gly No assertion criteria developmental and epileptic encephalopathy 97
- p.Pro520Ser No assertion criteria developmental and epileptic encephalopathy 97
Pathogenic/Likely pathogenic 2
- p.Arg506Cys Multiple submitters
- p.Gln237Ter Multiple submitters developmental and epileptic encephalopathy 97
Likely pathogenic 7
- p.Arg513His Multiple submitters developmental and epileptic encephalopathy 97
- p.Gln88fs Single submitter developmental and epileptic encephalopathy 97
- p.Lys466fs Single submitter developmental and epileptic encephalopathy 97
- p.Lys471fs Single submitter developmental and epileptic encephalopathy 97
- p.Met13fs Single submitter developmental and epileptic encephalopathy 97
- p.Ser313fs Single submitter developmental and epileptic encephalopathy 97
- c.977-2A>T No assertion criteria CELF2-related disorder
Benign 2
- c.146+9G>A Single submitter
- p.Met1Leu Single submitter
Likely benign 11
- c.146+6C>A Single submitter
- c.-20+8C>T Single submitter
- c.-49G>A Single submitter
- c.-55-73833G>A Single submitter
- c.-56+116329C>T Single submitter
- p.Asn308Ser Single submitter
- p.Thr307Ser Single submitter
- c.1097-6G>T No assertion criteria CELF2-related disorder
- c.16+5G>A No assertion criteria CELF2-related disorder
- p.Leu17Ser No assertion criteria CELF2-related disorder
- p.Leu4Val No assertion criteria CELF2-related disorder
Uncertain significance 64
- p.Val95Leu Multiple submitters ⚠
- c.53+1G>A Single submitter
- c.618+1G>A Single submitter
- c.74+5189A>C Single submitter developmental and epileptic encephalopathy 97
- c.-20+85417T>G Single submitter ⚠
- c.*15G>A Single submitter
- p.Ala135Thr Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala363_Leu364insTer Single submitter developmental and epileptic encephalopathy 97
- p.Ala382Thr Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala410Thr Single submitter ⚠
- p.Ala426fs Single submitter
- p.Ala46Val Single submitter ⚠
- p.Ala492Gly Single submitter ⚠
- p.Ala4Val Single submitter
- p.Arg11Ile Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn112Ser Single submitter ⚠
- p.Asn134= Single submitter
- p.Asn246Ile Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp43Glu Single submitter ⚠
- p.Asp517Asn Single submitter ⚠
- p.Cys168Ser Single submitter ⚠
- p.Cys168Ter Single submitter
- p.Gln107fs Single submitter
- p.Gln124Arg Single submitter ⚠
- p.Glu60Gly Single submitter ⚠
- p.Gly249Val Single submitter developmental and epileptic encephalopathy 97 ⚠
- p.Gly281Val Single submitter ⚠
- p.Gly503Ser Single submitter developmental and epileptic encephalopathy 97 ⚠
- p.His38Asp Single submitter ⚠
- p.Ile196Val Single submitter ⚠
- p.Leu19Val Single submitter
- p.Leu293Val Single submitter ⚠
- p.Leu345fs Single submitter
- p.Leu36Met Single submitter ⚠
- p.Lys508Thr Single submitter ⚠
- p.Lys512_Arg513insLeuLys Single submitter
- p.Met191Val Single submitter ⚠
- p.Met199Ile Single submitter ⚠
- p.Met1Lys Single submitter CELF2-related disorder
- p.Met282Val Single submitter ⚠
- p.Met339Leu Single submitter developmental and epileptic encephalopathy, 14 ⚠
- p.Met373Thr Single submitter ⚠
- p.Phe439fs Single submitter
- p.Phe97Val Single submitter developmental and epileptic encephalopathy 97 ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Thr302Ala Single submitter ⚠
- p.Thr323Ser Single submitter ⚠
- p.Thr386Arg Single submitter ⚠
- p.Tyr74Cys Single submitter neurodevelopmental disorder ⚠
- p.Val21Ile Single submitter
- c.976+4A>T No assertion criteria CELF2-related disorder
- p.Lys197Gln No assertion criteria developmental and epileptic encephalopathy 97 ⚠
- p.Pro520Leu No assertion criteria developmental and epileptic encephalopathy 97 ⚠
- p.Trp58Ter No assertion criteria developmental and epileptic encephalopathy 97