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We collected variants from our in\u2010house database, generated via clinical genetic testing and downstream research testing in the Center for Medical Genetics Ghent, Belgium (2001\u20132024) and via literature and other resources in the same period. All retrieved variants were categorized using ACMG\/AMP classifications to increase the knowledge of pathogenicity. We collected 413 unique genetic defects of the\n                    <jats:italic>FOXL2<\/jats:italic>\n                    region, including 76 novel variants, in 864 index patients. Of these, 87% of patients were identified with a coding\n                    <jats:italic>FOXL2<\/jats:italic>\n                    sequence variant. The polyalanine tract is a known mutational hotspot of\n                    <jats:italic>FOXL2<\/jats:italic>\n                    , illustrated here by the high percentage of pathogenic polyalanine expansions (24%). Furthermore, the molecular spectrum in typical BPES index patients is characterized by 8% coding deletions and 3% deletions located up\u2010 and downstream of\n                    <jats:italic>FOXL2<\/jats:italic>\n                    . The remaining 2% carry translocations along with chromosomal rearrangements of 3q23. This uniform and structured reclassification, incorporating the largest dataset of variants implicated in\n                    <jats:italic>FOXL2<\/jats:italic>\n                    \u2010associated disease so far, will improve both the diagnosis as well as genetic counselling for individuals with BPES.\n                  <\/jats:p>","DOI":"10.1155\/humu\/8478740","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T09:45:08Z","timestamp":1778060708000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variant Curation of the Largest Compendium of\n                    <i>FOXL2<\/i>\n                    Coding and Noncoding Sequence and Structural Variants in BPES"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6130-5364","authenticated-orcid":false,"given":"Charlotte","family":"Matton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0478-0580","authenticated-orcid":false,"given":"Julie","family":"Van De Velde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6636-5537","authenticated-orcid":false,"given":"Marieke","family":"De Bruyne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3294-0668","authenticated-orcid":false,"given":"Stijn","family":"Van De 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