To access the data, click or select the words “Appendix 9.” This table presents genetic variant data for patients whose clinical diagnosis could be confirmed by genetic findings. The table contains patient ID, diagnosis, gene transcript, inheritance pattern, variant location (exon/intron), genomic locations, cDNA and protein changes, dbSNP ID (for previously reported variants) or ClinVar accession number (for variants submitted to ClinVar by the authors), zygosity, REVEL score, ClinVar annotation, ACMG classification, and relevant references. Variants include pathogenic, likely pathogenic, and variants of uncertain significance (VUS). *: ABCA4 variants in P1 are presented in cis, with annotations for each variant-including exon number, dbSNP ID, ClinVar, ACMG classification, and reference information-provided separately, using a semicolon. a:Genomic locations have been added based on GRCh37. Abbrevations: AD: autosomal dominant, AR: autosomal recessive, E: exon, Hem: hemizygous, Het: heterozygous, Hom: homozygous, IVS: intervening sequence, LP: likely pathogenic, P: pathogenic, VUS: variant of uncertain clinical significance, XL: X-linked, a: inheritance pattern not specified. For P1, P11, and P19, the variant in the gene associated with the retinal dystrophy subtype consistent with the clinical diagnosis is designated as the 'disease-associated variant,' whereas the additional likely pathogenic variant identified in a gene linked to a different retinal dystrophy subtype is reported as an 'incidental finding' in the 'gene/transcript' column.