Additional file 4 of Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Additional file 4: Table S4. Phenotypic features of reported individuals with the POLE and POLD1 ED germline pathogenic variants listed in Table 2 and of heterozygous carriers of two additional variants reclassified as pathogenic or likely pathogenic after the application of the recommendations defined in this article.