CEP72 — 136 ClinVar variants
All ClinVar germline CEP72 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
1 Benign · 12 Likely benign · 123 Uncertain significance
Full CEP72 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP72 p.Ala192Val Uncertain significance Multiple submitters
- CEP72 p.Ala386Val Uncertain significance Single submitter
- CEP72 p.Ala410Val Uncertain significance Single submitter
- CEP72 p.Ala421Val Uncertain significance Single submitter
- CEP72 p.Ala450Thr Uncertain significance Single submitter
- CEP72 p.Ala462Pro Uncertain significance Single submitter
- CEP72 p.Ala468Val Uncertain significance Single submitter
- CEP72 p.Ala4Ser Uncertain significance Single submitter
- CEP72 p.Ala544Thr Uncertain significance Single submitter
- CEP72 p.Ala548Val Uncertain significance Single submitter
- CEP72 p.Ala639Ser Uncertain significance Single submitter
- CEP72 p.Ala99Thr Uncertain significance Single submitter
- CEP72 p.Arg176Gly Uncertain significance Single submitter
- CEP72 p.Arg210Ser Uncertain significance Single submitter
- CEP72 p.Arg222His Uncertain significance Single submitter
- CEP72 p.Arg227Cys Uncertain significance Single submitter
- CEP72 p.Arg289Cys Uncertain significance Single submitter
- CEP72 p.Arg289Pro Uncertain significance Single submitter
- CEP72 p.Arg335Gln Uncertain significance Single submitter
- CEP72 p.Arg3Gly Uncertain significance Single submitter
- CEP72 p.Arg401Gly Uncertain significance Single submitter
- CEP72 p.Arg497Gln Uncertain significance Single submitter
- CEP72 p.Arg63His Uncertain significance Single submitter
- CEP72 p.Asn86Ser Uncertain significance Single submitter
- CEP72 p.Asp158Asn Uncertain significance Single submitter
- CEP72 p.Asp371His Uncertain significance Single submitter
- CEP72 p.Asp514Val Uncertain significance Single submitter
- CEP72 p.Cys274Tyr Uncertain significance Single submitter
- CEP72 p.Gln244His Uncertain significance Single submitter
- CEP72 p.Gln272His Uncertain significance Single submitter
- CEP72 p.Gln464Arg Uncertain significance Single submitter
- CEP72 p.Gln558Glu Uncertain significance Single submitter
- CEP72 p.Gln573Arg Uncertain significance Single submitter
- CEP72 p.Glu205Lys Uncertain significance Single submitter
- CEP72 p.Glu223Asp Uncertain significance Single submitter
- CEP72 p.Glu286Lys Uncertain significance Single submitter
- CEP72 p.Glu355Gly Uncertain significance Single submitter
- CEP72 p.Glu459Lys Uncertain significance Single submitter
- CEP72 p.Glu583Gln Uncertain significance Single submitter
- CEP72 p.Glu590Asp Uncertain significance Single submitter
- CEP72 p.Glu590Lys Uncertain significance Single submitter
- CEP72 p.Gly209Asp Uncertain significance Single submitter
- CEP72 p.Gly246Arg Uncertain significance Single submitter
- CEP72 p.Gly252Ser Uncertain significance Single submitter
- CEP72 p.Gly436Ser Uncertain significance Single submitter
- CEP72 p.His48Arg Uncertain significance Single submitter
- CEP72 p.His621Asn Uncertain significance Single submitter
- CEP72 p.His621Gln Uncertain significance Single submitter
- CEP72 p.Leu128Arg Uncertain significance Single submitter
- CEP72 p.Leu27Pro Uncertain significance Single submitter
- CEP72 p.Leu30Arg Uncertain significance Single submitter
- CEP72 p.Leu78Ser Uncertain significance Single submitter
- CEP72 p.Lys178Glu Uncertain significance Single submitter
- CEP72 p.Lys185Arg Uncertain significance Single submitter
- CEP72 p.Lys220Arg Uncertain significance Single submitter
- CEP72 p.Lys538Arg Uncertain significance Single submitter
- CEP72 p.Met190Arg Uncertain significance Single submitter
- CEP72 p.Met190Leu Uncertain significance Single submitter
- CEP72 p.Met587Lys Uncertain significance Single submitter
- CEP72 p.Met631Val Uncertain significance Single submitter
- CEP72 p.Pro112Leu Uncertain significance Single submitter
- CEP72 p.Pro278Leu Uncertain significance Single submitter
- CEP72 p.Pro291Leu Uncertain significance Single submitter
- CEP72 p.Pro403Leu Uncertain significance Single submitter
- CEP72 p.Pro412Ser Uncertain significance Single submitter
- CEP72 p.Pro6Ala Uncertain significance Single submitter
- CEP72 p.Pro6Ser Uncertain significance Single submitter
- CEP72 p.Ser409Leu Uncertain significance Single submitter
- CEP72 p.Ser543Gly Uncertain significance Single submitter
- CEP72 p.Thr180Pro Uncertain significance Single submitter
- CEP72 p.Thr255Met Uncertain significance Single submitter
- CEP72 p.Thr306Ala Uncertain significance Single submitter
- CEP72 p.Thr559Ala Uncertain significance Single submitter
- CEP72 p.Thr559Arg Uncertain significance Single submitter
- CEP72 p.Thr76Ser Uncertain significance Single submitter
- CEP72 p.Val139Met Uncertain significance Single submitter
- CEP72 p.Val189Gly Uncertain significance Single submitter
- CEP72 p.Val241Gly Uncertain significance Single submitter
- CEP72 p.Val241Ile Uncertain significance Single submitter
- CEP72 p.Val362Leu Uncertain significance Single submitter
- CEP72 p.Val569Ala Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- CEP72 p.Ala17Gly Uncertain significance Single submitter
- CEP72 p.Ala2Gly Uncertain significance Single submitter
- CEP72 p.Arg121His Uncertain significance Single submitter
- CEP72 p.Arg137His Uncertain significance Single submitter
- CEP72 p.Arg144Gln Uncertain significance Single submitter
- CEP72 p.Arg257Trp Uncertain significance Single submitter
- CEP72 p.Arg395Trp Uncertain significance Single submitter
- CEP72 p.Arg487Cys Uncertain significance Single submitter
- CEP72 p.Arg96Gly Uncertain significance Single submitter
- CEP72 p.Arg96Trp Uncertain significance Single submitter
- CEP72 p.Asp136Asn Uncertain significance Single submitter
- CEP72 p.Cys204Trp Uncertain significance Single submitter
- CEP72 p.Gln133Pro Uncertain significance Single submitter
- CEP72 p.Gln73Arg Uncertain significance Single submitter
- CEP72 p.Glu391Lys Uncertain significance Single submitter
- CEP72 p.Glu501Asp Uncertain significance Single submitter
- CEP72 p.Glu616Lys Uncertain significance Single submitter
- CEP72 p.Gly55Cys Uncertain significance Single submitter
- CEP72 p.His592Tyr Uncertain significance Single submitter
- CEP72 p.His613Pro Uncertain significance Single submitter
- CEP72 p.Ile43Leu Uncertain significance Single submitter
- CEP72 p.Leu10Pro Uncertain significance Single submitter
- CEP72 p.Leu520Val Uncertain significance Single submitter
- CEP72 p.Leu552Phe Uncertain significance Single submitter
- CEP72 p.Phe123Leu Uncertain significance Single submitter
- CEP72 p.Phe151Leu Uncertain significance Single submitter
- CEP72 p.Phe446Leu Uncertain significance Single submitter
- CEP72 p.Ser19Arg Uncertain significance Single submitter
- CEP72 p.Ser226Cys Uncertain significance Single submitter
- CEP72 p.Ser248Tyr Uncertain significance Single submitter
- CEP72 p.Ser360Tyr Uncertain significance Single submitter
- CEP72 p.Ser594Tyr Uncertain significance Single submitter
- CEP72 p.Thr295Met Likely benign Single submitter
- CEP72 p.Thr425Met Uncertain significance Single submitter
- CEP72 p.Thr54Ala Uncertain significance Single submitter
- CEP72 p.Thr585Pro Uncertain significance Single submitter
- CEP72 p.Thr598Ile Uncertain significance Single submitter
- CEP72 p.Tyr85Cys Uncertain significance Single submitter
- CEP72 p.Val113Met Uncertain significance Single submitter
- CEP72 p.Val189Ile Uncertain significance Single submitter
- CEP72 p.Val197Phe Uncertain significance Single submitter
- CEP72 p.Val596Gly Uncertain significance Single submitter
- CEP72 p.Val9Met Uncertain significance Single submitter
All CEP72 variants
Benign 1
- p.Asp135= Multiple submitters
Likely benign 12
- p.Ala555Thr Single submitter
- p.Arg227His Single submitter
- p.Gly209Ser Single submitter
- p.Gly396Ser Single submitter
- p.His510Arg Single submitter
- p.Lys364Glu Single submitter
- p.Met469Thr Single submitter
- p.Ser387Leu Single submitter
- p.Thr295Met Single submitter ⚠
- p.Thr546Ala Single submitter
- p.Thr549Ala Single submitter
- p.Val163Ile Single submitter
Uncertain significance 123
- p.Ala192Val Multiple submitters ⚠
- p.Ala17Gly Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala410Val Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Ala462Pro Single submitter ⚠
- p.Ala468Val Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala548Val Single submitter ⚠
- p.Ala639Ser Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg176Gly Single submitter ⚠
- p.Arg210Ser Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg289Pro Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg395Trp Single submitter ⚠
- p.Arg3Gly Single submitter ⚠
- p.Arg401Gly Single submitter ⚠
- p.Arg487Cys Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg96Gly Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn86Ser Single submitter ⚠
- p.Asp136Asn Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp371His Single submitter ⚠
- p.Asp514Val Single submitter ⚠
- p.Cys204Trp Single submitter ⚠
- p.Cys274Tyr Single submitter ⚠
- p.Gln133Pro Single submitter ⚠
- p.Gln244His Single submitter ⚠
- p.Gln272His Single submitter ⚠
- p.Gln464Arg Single submitter ⚠
- p.Gln558Glu Single submitter ⚠
- p.Gln573Arg Single submitter ⚠
- p.Gln73Arg Single submitter ⚠
- p.Glu205Lys Single submitter ⚠
- p.Glu223Asp Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu355Gly Single submitter ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu459Lys Single submitter ⚠
- p.Glu501Asp Single submitter ⚠
- p.Glu583Gln Single submitter ⚠
- p.Glu590Asp Single submitter ⚠
- p.Glu590Lys Single submitter ⚠
- p.Glu616Lys Single submitter ⚠
- p.Gly209Asp Single submitter ⚠
- p.Gly246Arg Single submitter ⚠
- p.Gly252Ser Single submitter ⚠
- p.Gly436Ser Single submitter ⚠
- p.Gly55Cys Single submitter ⚠
- p.His48Arg Single submitter ⚠
- p.His592Tyr Single submitter ⚠
- p.His613Pro Single submitter ⚠
- p.His621Asn Single submitter ⚠
- p.His621Gln Single submitter ⚠
- p.Ile43Leu Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu128Arg Single submitter ⚠
- p.Leu27Pro Single submitter ⚠
- p.Leu30Arg Single submitter ⚠
- p.Leu520Val Single submitter ⚠
- p.Leu552Phe Single submitter ⚠
- p.Leu78Ser Single submitter ⚠
- p.Lys178Glu Single submitter ⚠
- p.Lys185Arg Single submitter ⚠
- p.Lys220Arg Single submitter ⚠
- p.Lys538Arg Single submitter ⚠
- p.Met190Arg Single submitter ⚠
- p.Met190Leu Single submitter ⚠
- p.Met587Lys Single submitter ⚠
- p.Met631Val Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Phe151Leu Single submitter ⚠
- p.Phe446Leu Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro278Leu Single submitter ⚠
- p.Pro291Leu Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro412Ser Single submitter ⚠
- p.Pro6Ala Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser226Cys Single submitter ⚠
- p.Ser248Tyr Single submitter ⚠
- p.Ser360Tyr Single submitter ⚠
- p.Ser409Leu Single submitter ⚠
- p.Ser543Gly Single submitter ⚠
- p.Ser594Tyr Single submitter ⚠
- p.Thr180Pro Single submitter ⚠
- p.Thr255Met Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr425Met Single submitter ⚠
- p.Thr54Ala Single submitter ⚠
- p.Thr559Ala Single submitter ⚠
- p.Thr559Arg Single submitter ⚠
- p.Thr585Pro Single submitter ⚠
- p.Thr598Ile Single submitter ⚠
- p.Thr76Ser Single submitter ⚠
- p.Tyr85Cys Single submitter ⚠
- p.Val113Met Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val189Gly Single submitter ⚠
- p.Val189Ile Single submitter ⚠
- p.Val197Phe Single submitter ⚠
- p.Val241Gly Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val362Leu Single submitter ⚠
- p.Val569Ala Single submitter ⚠
- p.Val596Gly Single submitter ⚠
- p.Val9Met Single submitter ⚠