IntroductionCTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants inCTCF. The firstCTCFvariants in CRD cases were documented in 2013. To date, 76CTCFvariants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers ofCTCFvariants are being identified, and multiple genotype-phenotype databases cataloging such variants are emerging.MethodsIn this study, we aimed to expand the genotypic spectrum of CRD, by cataloging NDD phenotypes associated with reportedCTCFvariants. Here, we systematically reviewed all knownCTCFvariants reported in case studies and large-scale exome sequencing cohorts. We also conducted a meta-analysis using public variant data from genotype-phenotype databases to identify additionalCTCFvariants, which we then curated and annotated.ResultsFrom this combined approach, we report an additional 86CTCFvariants associated with NDD phenotypes that have not yet been described in the literature. Furthermore, we describe and explain inconsistencies in the quality of reported variants, which impairs the reuse of data for research of NDDs and other pathologies.DiscussionFrom this integrated analysis, we provide a comprehensive and annotated catalog of all currently knownCTCFmutations associated with NDD phenotypes, to aid diagnostic applications, as well as translational and basic research.