Overview of variants of unknown significance in genes associated with the patients’ phenotype.

Included are both heterozygous variants in genes related to autosomal dominant disorders or X-linked disorders as well as compound-heterozygous variants in genes related to autosomal recessive disorders. Evaluation according to ACMG criteria ranges from likely benign to likely pathogenic but all variants were considered as VUS in a clinical context. Variants that could be reclassified as (likely) benign are listed separately. (XLSX)