Table 3.

Monogenic secondary findings from WGS

Subject age, years	Gene	DNA variant	Protein Variant	Classification	Disease association
44	F5	c.1601G>A	p.Arg534Gln	Risk allele	Factor V Leiden Thrombophilia
63	EYA4	c.1739-1G>A		Likely pathogenic	Postlingual deafness
55	SQSTM1	c.1175C>T	p.Pro392Leu	Likely pathogenic	Paget disease of the bone
62	CHEK2	c.1100del	p.Thr367MetfsX15	Pathogenic	CHEK2-related cancer risk
24	APP	c.2137G>A	p.Ala713Thr	VUS-FP	Late onset Alzheimer disease

F5 indicates Coagulation Factor 5; EYA4, EYA Transcriptional Coactivator And Phosphatase 4; SQSTM1, Sequestosome 1; CHEK2, Checkpoint Kinase 2; APP, Amyloid Precursor Protein