CPEB2 — 218 ClinVar variants
All ClinVar germline CPEB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Benign · 1 Likely benign · 216 Uncertain significance
Full CPEB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CPEB2 variants
Benign 1
- p.Gln173_Leu174insGln Single submitter
Likely benign 1
- p.Ile841= Single submitter
Uncertain significance 216
- p.Ala113Val Single submitter
- p.Ala27Val Single submitter
- p.Ala287Ser Single submitter
- p.Ala288Val Single submitter
- p.Ala494Ser Single submitter
- p.Ala517Thr Single submitter
- p.Ala540Val Single submitter
- p.Ala541Thr Single submitter
- p.Ala73Glu Single submitter
- p.Ala73Gly Single submitter
- p.Ala78Val Single submitter
- p.Ala79Pro Single submitter
- p.Ala79Thr Single submitter
- p.Ala823Ser Single submitter
- p.Ala88Ser Single submitter
- p.Arg227Cys Single submitter
- p.Arg273Gln Single submitter
- p.Arg283Leu Single submitter
- p.Arg619His Single submitter
- p.Arg650Ser Single submitter
- p.Arg710Gln Single submitter
- p.Arg731Gly Single submitter
- p.Arg907Trp Single submitter
- p.Arg979His Single submitter
- p.Asn298Ser Single submitter
- p.Asn298Thr Single submitter
- p.Asn458Lys Single submitter
- p.Asn548Ser Single submitter
- p.Asn633Asp Single submitter
- p.Asn640Lys Single submitter
- p.Asn720Ser Single submitter
- p.Asn991Ser Single submitter
- p.Asp120Gly Single submitter
- p.Asp120Val Single submitter
- p.Asp165Glu Single submitter
- p.Asp192Ala Single submitter
- p.Asp257His Single submitter
- p.Asp444Ala Single submitter
- p.Asp444Asn Single submitter
- p.Asp661Glu Single submitter
- p.Asp665Tyr Single submitter
- p.Asp685Glu Single submitter
- p.Asp844Asn Single submitter
- p.Asp95Tyr Single submitter
- p.Cys158Tyr Single submitter
- p.Gln1028His Single submitter
- p.Gln103Arg Single submitter
- p.Gln10Arg Single submitter
- p.Gln171Glu Single submitter
- p.Gln172His Single submitter
- p.Gln177His Single submitter
- p.Gln247Glu Single submitter
- p.Gln393Pro Single submitter
- p.Gln395His Single submitter
- p.Gln395Pro Single submitter
- p.Gln396Glu Single submitter
- p.Gln416His Single submitter
- p.Gln416Pro Single submitter
- p.Gln510Glu Single submitter
- p.Gln546Glu Single submitter
- p.Gln90Leu Single submitter
- p.Gln950His Single submitter
- p.Glu295Gln Single submitter
- p.Gly20Arg Single submitter
- p.Gly278Asp Single submitter
- p.Gly280Arg Single submitter
- p.Gly280Ser Single submitter
- p.Gly29Ser Single submitter
- p.Gly351Val Single submitter
- p.Gly358Asp Single submitter
- p.Gly364Arg Single submitter
- p.Gly366Glu Single submitter
- p.Gly367Glu Single submitter
- p.Gly368Ala Single submitter
- p.Gly452Arg Single submitter
- p.Gly46Ser Single submitter
- p.Gly486Asp Single submitter
- p.Gly57Ser Single submitter
- p.Gly582Ser Single submitter
- p.Gly589Arg Single submitter
- p.Gly70Ala Single submitter
- p.Gly70Ser Single submitter
- p.Gly71Val Single submitter
- p.Gly911Arg Single submitter
- p.His121Gln Single submitter
- p.His122Tyr Single submitter
- p.His145Tyr Single submitter
- p.His240Asn Single submitter
- p.His240Leu Single submitter
- p.His319Leu Single submitter
- p.His536Tyr Single submitter
- p.His581Arg Single submitter
- p.His585Gln Single submitter
- p.His585Pro Single submitter
- p.His690Tyr Single submitter
- p.His715Tyr Single submitter
- p.Ile600Leu Single submitter
- p.Ile697Thr Single submitter
- p.Ile741Thr Single submitter
- p.Ile741Val Single submitter
- p.Ile856Val Single submitter
- p.Leu118His Single submitter
- p.Leu218Phe Single submitter
- p.Leu238Phe Single submitter
- p.Leu238Val Single submitter
- p.Leu261Val Single submitter
- p.Leu321Arg Single submitter
- p.Leu321Val Single submitter
- p.Leu342Met Single submitter
- p.Leu53Ser Single submitter
- p.Leu663Phe Single submitter
- p.Leu696Val Single submitter
- p.Leu745Phe Single submitter
- p.Lys194Arg Single submitter
- p.Lys708Thr Single submitter
- p.Lys810Thr Single submitter
- p.Met505Leu Single submitter
- p.Met591Ile Single submitter
- p.Met683Ile Single submitter
- p.Met903Val Single submitter
- p.Met971Leu Single submitter
- p.Phe1031Leu Single submitter
- p.Phe208Ile Single submitter
- p.Phe208Leu Single submitter
- p.Phe465Leu Single submitter
- p.Phe492Ile Single submitter
- p.Pro123Ala Single submitter
- p.Pro13Arg Single submitter
- p.Pro185Thr Single submitter
- p.Pro191Ser Single submitter
- p.Pro191Thr Single submitter
- p.Pro196Leu Single submitter
- p.Pro197Ser Single submitter
- p.Pro200Leu Single submitter
- p.Pro210Leu Single submitter
- p.Pro212Leu Single submitter
- p.Pro232Leu Single submitter
- p.Pro251Ser Single submitter
- p.Pro255Ala Single submitter
- p.Pro255Leu Single submitter
- p.Pro260Leu Single submitter
- p.Pro272Ser Single submitter
- p.Pro282Thr Single submitter
- p.Pro286Ala Single submitter
- p.Pro309Leu Single submitter
- p.Pro317Ser Single submitter
- p.Pro320Arg Single submitter
- p.Pro345Arg Single submitter
- p.Pro350Ala Single submitter
- p.Pro350Ser Single submitter
- p.Pro361Thr Single submitter
- p.Pro362Leu Single submitter
- p.Pro373Ser Single submitter
- p.Pro382Ser Single submitter
- p.Pro38Ala Single submitter
- p.Pro394Arg Single submitter
- p.Pro402Leu Single submitter
- p.Pro407Leu Single submitter
- p.Pro409Ser Single submitter
- p.Pro413Leu Single submitter
- p.Pro440Leu Single submitter
- p.Pro454Leu Single submitter
- p.Pro463Thr Single submitter
- p.Pro467Leu Single submitter
- p.Pro479Leu Single submitter
- p.Pro491Ser Single submitter
- p.Pro498His Single submitter
- p.Pro499Leu Single submitter
- p.Pro515Leu Single submitter
- p.Pro518Leu Single submitter
- p.Pro521Leu Single submitter
- p.Pro68Leu Single submitter
- p.Pro76Arg Single submitter
- p.Pro808Ser Single submitter
- p.Pro926Ser Single submitter
- p.Ser143Gly Single submitter
- p.Ser143Thr Single submitter
- p.Ser150Phe Single submitter
- p.Ser151Phe Single submitter
- p.Ser154Pro Single submitter
- p.Ser176Asn Single submitter
- p.Ser17Asn Single submitter
- p.Ser183Asn Single submitter
- p.Ser281Gly Single submitter
- p.Ser303Ala Single submitter
- p.Ser370Thr Single submitter
- p.Ser422Leu Single submitter
- p.Ser456Tyr Single submitter
- p.Ser464Thr Single submitter
- p.Ser493Pro Single submitter
- p.Ser560Thr Single submitter
- p.Ser568Arg Single submitter
- p.Ser623Leu Single submitter
- p.Ser66Tyr Single submitter
- p.Ser712Asn Single submitter
- p.Ser751Arg Single submitter
- p.Ser75Arg Single submitter
- p.Ser75Cys Single submitter
- p.Thr127Arg Single submitter
- p.Thr305Pro Single submitter
- p.Thr426Asn Single submitter
- p.Thr474Ala Single submitter
- p.Thr474Ile Single submitter
- p.Thr474Ser Single submitter
- p.Thr572Ala Single submitter
- p.Thr588Ala Single submitter
- p.Thr588Ser Single submitter
- p.Thr618Pro Single submitter
- p.Thr621Ala Single submitter
- p.Trp570Arg Single submitter
- p.Trp577Arg Single submitter
- p.Tyr713Ser Single submitter
- p.Val307Leu Single submitter
- p.Val307Met Single submitter
- p.Val478Phe Single submitter
- p.Val754Ala Single submitter