CEP43 — 66 ClinVar variants
All ClinVar germline CEP43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Benign · 2 Likely benign · 63 Uncertain significance
Full CEP43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP43 p.Ala148Val Uncertain significance Single submitter
- CEP43 p.Arg17Trp Uncertain significance Single submitter
- CEP43 p.Asp304Asn Uncertain significance Single submitter
- CEP43 p.Asp382Glu Uncertain significance Single submitter
- CEP43 p.Asp397Glu Uncertain significance Single submitter
- CEP43 p.Gln188Arg Uncertain significance Single submitter
- CEP43 p.Glu146Lys Uncertain significance Single submitter
- CEP43 p.Gly181Asp Uncertain significance Single submitter
- CEP43 p.Gly252Glu Uncertain significance Single submitter
- CEP43 p.Gly268Ser Uncertain significance Single submitter
- CEP43 p.Ile117Thr Uncertain significance Single submitter
- CEP43 p.Ile359Leu Uncertain significance Single submitter
- CEP43 p.Ile367Val Uncertain significance Single submitter
- CEP43 p.Leu208Phe Uncertain significance Single submitter
- CEP43 p.Leu235Ser Uncertain significance Single submitter
- CEP43 p.Leu30Pro Uncertain significance Single submitter
- CEP43 p.Leu317Val Uncertain significance Single submitter
- CEP43 p.Leu327Val Uncertain significance Single submitter
- CEP43 p.Lys182Asn Uncertain significance Single submitter
- CEP43 p.Lys189Glu Uncertain significance Single submitter
- CEP43 p.Lys212Gln Uncertain significance Single submitter
- CEP43 p.Lys265Glu Uncertain significance Single submitter
- CEP43 p.Lys323Asn Uncertain significance Single submitter
- CEP43 p.Lys63Arg Uncertain significance Single submitter
- CEP43 p.Phe89Leu Uncertain significance Single submitter
- CEP43 p.Ser284Leu Uncertain significance Single submitter
- CEP43 p.Thr143Pro Uncertain significance Single submitter
- CEP43 p.Thr169Ala Uncertain significance Single submitter
- CEP43 p.Thr4Met Uncertain significance Single submitter
- CEP43 p.Thr55Ser Uncertain significance Single submitter
- CEP43 p.Thr90Ser Uncertain significance Single submitter
- CEP43 p.Val51Gly Uncertain significance Single submitter
- CEP43 p.Val8Met Uncertain significance Single submitter
- CEP43 p.Val9Ala Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CEP43 p.Ala39Gly Uncertain significance Single submitter
- CEP43 p.Ala6Val Uncertain significance Single submitter
- CEP43 p.Ala79Glu Uncertain significance Single submitter
- CEP43 p.Arg112Gln Uncertain significance Single submitter
- CEP43 p.Arg134Cys Uncertain significance Single submitter
- CEP43 p.Arg134Gly Uncertain significance Single submitter
- CEP43 p.Asp249Asn Uncertain significance Single submitter
- CEP43 p.Asp253Glu Uncertain significance Single submitter
- CEP43 p.Asp340Glu Uncertain significance Single submitter
- CEP43 p.Glu105Lys Uncertain significance Single submitter
- CEP43 p.Glu108Asp Uncertain significance Single submitter
- CEP43 p.Glu11Asp Uncertain significance Single submitter
- CEP43 p.Glu11Gly Uncertain significance Single submitter
- CEP43 p.Glu358Ala Uncertain significance Single submitter
- CEP43 p.Gly278Glu Uncertain significance Single submitter
- CEP43 p.Leu283Pro Uncertain significance Single submitter
- CEP43 p.Lys178Asn Uncertain significance Single submitter
- CEP43 p.Lys64Arg Uncertain significance Single submitter
- CEP43 p.Lys69Asn Uncertain significance Single submitter
- CEP43 p.Pro288Arg Uncertain significance Single submitter
- CEP43 p.Pro288His Uncertain significance Single submitter
- CEP43 p.Ser152Tyr Uncertain significance Single submitter
- CEP43 p.Ser213Arg Uncertain significance Single submitter
- CEP43 p.Ser27Arg Uncertain significance Single submitter
- CEP43 p.Ser282Leu Uncertain significance Single submitter
- CEP43 p.Ser294Ile Uncertain significance Single submitter
- CEP43 p.Thr204Arg Uncertain significance Single submitter
- CEP43 p.Tyr337His Uncertain significance Single submitter
- CEP43 p.Val29Phe Uncertain significance Single submitter
All CEP43 variants
Benign 1
- p.Ala277Pro Single submitter
Likely benign 2
- p.Asn196Ser Single submitter
- p.Asn200Ser Single submitter
Uncertain significance 63
- p.Ala148Val Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala79Glu Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg134Gly Single submitter ⚠
- p.Arg17Trp Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp253Glu Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp340Glu Single submitter ⚠
- p.Asp382Glu Single submitter ⚠
- p.Asp397Glu Single submitter ⚠
- p.Gln188Arg Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.Glu108Asp Single submitter ⚠
- p.Glu11Asp Single submitter ⚠
- p.Glu11Gly Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu358Ala Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly252Glu Single submitter ⚠
- p.Gly268Ser Single submitter ⚠
- p.Gly278Glu Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile359Leu Single submitter ⚠
- p.Ile367Val Single submitter ⚠
- p.Leu208Phe Single submitter ⚠
- p.Leu235Ser Single submitter ⚠
- p.Leu283Pro Single submitter ⚠
- p.Leu30Pro Single submitter ⚠
- p.Leu317Val Single submitter ⚠
- p.Leu327Val Single submitter ⚠
- p.Lys178Asn Single submitter ⚠
- p.Lys182Asn Single submitter ⚠
- p.Lys189Glu Single submitter ⚠
- p.Lys212Gln Single submitter ⚠
- p.Lys265Glu Single submitter ⚠
- p.Lys323Asn Single submitter ⚠
- p.Lys63Arg Single submitter ⚠
- p.Lys64Arg Single submitter ⚠
- p.Lys69Asn Single submitter ⚠
- p.Phe89Leu Single submitter ⚠
- p.Pro288Arg Single submitter ⚠
- p.Pro288His Single submitter ⚠
- p.Ser152Tyr Single submitter ⚠
- p.Ser213Arg Single submitter ⚠
- p.Ser27Arg Single submitter ⚠
- p.Ser282Leu Single submitter ⚠
- p.Ser284Leu Single submitter ⚠
- p.Ser294Ile Single submitter ⚠
- p.Thr143Pro Single submitter ⚠
- p.Thr169Ala Single submitter ⚠
- p.Thr204Arg Single submitter ⚠
- p.Thr4Met Single submitter ⚠
- p.Thr55Ser Single submitter ⚠
- p.Thr90Ser Single submitter ⚠
- p.Tyr337His Single submitter ⚠
- p.Val29Phe Single submitter ⚠
- p.Val51Gly Single submitter ⚠
- p.Val8Met Single submitter ⚠
- p.Val9Ala Single submitter ⚠