CELF3 — 40 ClinVar variants
All ClinVar germline CELF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely benign · 39 Uncertain significance
Full CELF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELF3 p.Ala206Ser Uncertain significance Single submitter
- CELF3 p.Ala216Glu Uncertain significance Single submitter
- CELF3 p.Ala276Thr Uncertain significance Single submitter
- CELF3 p.Ala312Val Uncertain significance Single submitter
- CELF3 p.Ala334Pro Uncertain significance Single submitter
- CELF3 p.Arg415Leu Uncertain significance Single submitter
- CELF3 p.Gln209Leu Uncertain significance Single submitter
- CELF3 p.Glu395Lys Uncertain significance Single submitter
- CELF3 p.Gly447Ser Uncertain significance Single submitter
- CELF3 p.Gly45Val Uncertain significance Single submitter
- CELF3 p.Ile26Thr Uncertain significance Single submitter
- CELF3 p.Thr44Asn Uncertain significance Single submitter
- CELF3 p.Thr73Met Uncertain significance Single submitter
- CELF3 p.Val169Met Uncertain significance Single submitter
- CELF3 p.Val235Met Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CELF3 p.Ala146Thr Uncertain significance Single submitter
- CELF3 p.Ala206Thr Uncertain significance Single submitter
- CELF3 p.Ala221Thr Uncertain significance Single submitter
- CELF3 p.Ala323Thr Uncertain significance Single submitter
- CELF3 p.Ala335Thr Uncertain significance Single submitter
- CELF3 p.Ala67Thr Uncertain significance Single submitter
- CELF3 p.Arg112Gln Uncertain significance Single submitter
- CELF3 p.Arg32Gln Uncertain significance Single submitter
- CELF3 p.Asp122Asn Uncertain significance Single submitter
- CELF3 p.Asp316Glu Uncertain significance Single submitter
- CELF3 p.Gln439His Uncertain significance Single submitter
- CELF3 p.Gly281Ser Uncertain significance Single submitter
- CELF3 p.His405Pro Uncertain significance Single submitter
- CELF3 p.Ile253Thr Uncertain significance Single submitter
- CELF3 p.Leu181Phe Uncertain significance Single submitter
- CELF3 p.Phe194Tyr Uncertain significance Single submitter
- CELF3 p.Pro284Leu Uncertain significance Single submitter
- CELF3 p.Pro289Thr Uncertain significance Single submitter
-
CELF3 p.Pro305Ser
Uncertain significance
Single submitter
neuromuscular disease
- CELF3 p.Pro344Leu Uncertain significance Single submitter
- CELF3 p.Ser223Cys Uncertain significance Single submitter
- CELF3 p.Ser260Asn Uncertain significance Single submitter
- CELF3 p.Ser88Asn Uncertain significance Single submitter
All CELF3 variants
Likely benign 1
- p.Ala342= Single submitter
Uncertain significance 39
- p.Ala146Thr Single submitter ⚠
- p.Ala206Ser Single submitter ⚠
- p.Ala206Thr Single submitter ⚠
- p.Ala216Glu Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Ala276Thr Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala334Pro Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg415Leu Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp316Glu Single submitter ⚠
- p.Gln209Leu Single submitter ⚠
- p.Gln367_Gln373del Single submitter neuromuscular disease
- p.Gln439His Single submitter ⚠
- p.Glu395Lys Single submitter ⚠
- p.Gly281Ser Single submitter ⚠
- p.Gly447Ser Single submitter ⚠
- p.Gly45Val Single submitter ⚠
- p.His405Pro Single submitter ⚠
- p.Ile253Thr Single submitter ⚠
- p.Ile26Thr Single submitter ⚠
- p.Leu181Phe Single submitter ⚠
- p.Phe194Tyr Single submitter ⚠
- p.Pro284Leu Single submitter ⚠
- p.Pro289Thr Single submitter ⚠
- p.Pro305Ser Single submitter neuromuscular disease ⚠
- p.Pro344Leu Single submitter ⚠
- p.Ser223Cys Single submitter ⚠
- p.Ser260Asn Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Thr44Asn Single submitter ⚠
- p.Thr73Met Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val235Met Single submitter ⚠