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.
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本数据集包含与常染色体显性遗传病或X连锁遗传病相关基因的杂合变异，以及与常染色体隐性遗传病相关基因的复合杂合变异。依据美国医学遗传学与基因组学学会（ACMG）标准开展的变异评估结果范围介于可能良性至可能致病之间，但在临床语境中所有变异均被归类为意义未明变异（Variant of Uncertain Significance，VUS）。可被重新分类为（可能）良性的变异将单独列出。
(XLSX)