Table 3.

Clinically relevant structural variants detected in 156 clinical WGS in silico gene panels

Sample ID	Reason for referral	Aberration type	Zygosity	Gene	Coordinates (hg19)	Size (bp)	Classification
RD_P391	SKD	Deletion	Heterozygous*	DYNC2H1 (exons 19–78)	chr11:103016472-103177263	161,791	Likely pathogenic
RD_P392	Malformations	Deletion	Homozygous	B9D1 (exon 4)	chr17:19250943-19251153	210	Pathogenic
RD_P393	Epilepsy	Deletion	Heterozygous	SCN3A (exon 1), CSRNP3, GALNT3 (whole gene)	chr2:166050817-166679227	628,410	Pathogenic
		Inversion	Heterozygous	TTC21B (whole gene)	chr2:166679228-166818452	139,224
		Deletion	Heterozygous	SCN1A (whole gene)	chr2:166818453-166939516	121,063
RD_P394	NMD	Duplication	Homozygous	LAMA2 (exon 30)	chr6:129655050-129670080	15,030	Pathogenic
RD_P395	NMD	Duplication	Homozygous	LAMA2 (exon 30)	chr6:129655050-129670080	15,030	Pathogenic
RD_P396	NMD	Deletion	Heterozygous	DMD (exon 45)	chrX:31973924-32017000	43,076	Pathogenic
RD_P397	NMD	Deletion	Hemizygous	DMD (exon 3–21)	chrX:32493944-33021034	527,090	Pathogenic
RD_P398	Lissencephaly	Deletion	Heterozygous	PAFAH1B1 (exon 3–11)	chr17:2555675-2645203	89,528	Pathogenic
RD_P399	NMD	Deletion	Homozygous	DYSF (exon 6–11)	chr2:71740967-71749805	8838	Likely pathogenic
RD_P400	SKD	Deletion	Heterozygous	COPS7B (whole gene), NPPC, DIS3L2 (exons 1–5)	chr2:232647812-232930068	282,200	Likely pathogenic
RD_P401	Eye disorder	Inversion	Hemizygous	CHM (exon 1)	chrX:85296959-85303375	6401	Pathogenic
RD_P402	SKD	Deletion	Heterozygous	KDM6A (whole gene)	chrX:44207077-45518941	1.3 Mb	Pathogenic

SKD skeletal dysplasia, NMD neuromuscular disease. *Heterozygous missense in trans