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Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for genetic counselling. This study collates the phenotype and molecular data for available CDH1 variants that have been classified, using the American College of Medical Genetics and Genomics criteria, as at least \u2018likely pathogenic\u2019, and correlates their molecular and structural characteristics to phenotype. We demonstrate that CDH1 variant type and location differ between HDGC and CL\/P, and that there is clustering of CL\/P variants within linker regions between the extracellular domains of the cadherin protein. While these differences do not provide for exact prediction of the phenotype for a given mutation, they may contribute to more accurate assessments of risk for HDGC or CL\/P for individuals with specific CDH1 variants.<\/jats:p>","DOI":"10.3390\/genes11040391","type":"journal-article","created":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T03:58:39Z","timestamp":1586231919000},"page":"391","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer"],"prefix":"10.3390","volume":"11","author":[{"given":"Arthavan","family":"Selvanathan","sequence":"first","affiliation":[{"name":"New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia"},{"name":"Discipline of Child and Adolescent Health, University of Sydney, Sydney 2031, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng Yee","family":"Nixon","sequence":"additional","affiliation":[{"name":"Canterbury Health Laboratories, Canterbury District Health Board, Christchurch 8011, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia"},{"name":"Genetics of Learning Disability Service, Waratah, Newcastle 2298, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8691-9429","authenticated-orcid":false,"given":"Luigi","family":"Scietti","sequence":"additional","affiliation":[{"name":"The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7818-1804","authenticated-orcid":false,"given":"Federico","family":"Forneris","sequence":"additional","affiliation":[{"name":"The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina M.","family":"Moreno Uribe","sequence":"additional","affiliation":[{"name":"Department of Orthodontics &amp; 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