CPEB1 — 60 ClinVar variants
All ClinVar germline CPEB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Benign · 1 Likely benign · 58 Uncertain significance
Full CPEB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CPEB1 variants
Benign 1
- p.Pro288= Single submitter
Likely benign 1
- p.Lys392= Single submitter
Uncertain significance 58
- c.-98+1610_-98+5362del Single submitter primary amenorrhea
- p.Ala109Val Single submitter
- p.Ala147Asp Single submitter
- p.Arg136Gly Single submitter
- p.Arg196Cys Single submitter
- p.Arg200Gln Single submitter
- p.Arg200Trp Single submitter
- p.Arg233His Single submitter
- p.Arg452Lys Single submitter
- p.Arg62Lys Single submitter
- p.Asn501Ser Single submitter
- p.Asp261Asn Single submitter
- p.Asp291Asn Single submitter
- p.Asp41His Single submitter
- p.Asp437Glu Single submitter
- p.Asp44Asn Single submitter
- p.Asp474Asn Single submitter
- p.Cys378Tyr Single submitter
- p.Cys54Phe Single submitter
- p.Cys77Tyr Single submitter
- p.Gln127Arg Single submitter
- p.Gln399Glu Single submitter
- p.Gln446Glu Single submitter
- p.Glu97Gln Single submitter
- p.Gly163Arg Single submitter
- p.Gly167Glu Single submitter
- p.Gly257Arg Single submitter
- p.His152Arg Single submitter
- p.His403Arg Single submitter
- p.His538Gln Single submitter
- p.Ile349Val Single submitter
- p.Ile39Met Single submitter
- p.Leu104Pro Single submitter
- p.Leu158Phe Single submitter
- p.Leu203Val Single submitter
- p.Leu267Pro Single submitter
- p.Leu51Pro Single submitter
- p.Lys279Asn Single submitter
- p.Met260Thr Single submitter
- p.Phe187Leu Single submitter
- p.Phe300Leu Single submitter
- p.Phe3Ser Single submitter
- p.Pro405Leu Single submitter
- p.Pro4Ser Single submitter
- p.Ser108Cys Single submitter
- p.Ser153Leu Single submitter
- p.Ser258Pro Single submitter
- p.Ser323Arg Single submitter
- p.Ser365Asn Single submitter
- p.Thr107Ile Single submitter
- p.Thr140Ile Single submitter
- p.Thr357Ala Single submitter
- p.Thr53Met Single submitter
- p.Thr79Ala Single submitter
- p.Trp290Leu Single submitter
- p.Val340Met Single submitter
- p.Val430Met Single submitter
- p.Val480Leu Single submitter