Table 1 CNVs detected upon ES reanalysis.
Family | Gene | Heterozygous coding variant | Second hit - CNV | ACMG – ClinGen CNV classification |
|---|---|---|---|---|
COR62 | KIAA0586 | c.428del (p.Arg143LysfsTer4) | exon8_10 del | Likely pathogenic (1A-0; 2E-0.9; 3A-0) |
COR164 | KIAA0586 | c.428del (p.Arg143LysfsTer4) | exon8_10 del | Likely pathogenic (1A-0; 2E-0.9; 3A-0) |
COR93 | KIAA0586 | c.428del (p.Arg143LysfsTer4) | exon8_10 del | Likely pathogenic (1A-0; 2E-0.9; 3A-0) |
COR130 | KIAA0586 | c.428del (p.Arg143LysfsTer4) | exon8_10 del | Likely pathogenic (1A-0; 2E-0.9; 3A-0) |
COR127 | AHI1 | c.1500 C > G (p.Tyr500Ter) | exon18_20 del | Likely pathogenic (1A-0; 2E-0.9; 3A-0) |
COR508 | CPLANE1 | c.3676 C > T (p.Arg1226Ter) | exon17_49 dup | Likely pathogenic (1A-0; 2I-0.9; 3A-0) |
