Table IV.

Clinically significant variants identified.

ID of patient	Gene	Variant	Variant classification	InSiGHT	ClinVar	PHENOTYPE (age onset)
07.19	MLH1	c.350C>T p. (Thr117Met)	Pathogenetic	Pathogenetic	Pathogenetic	Index case k-co (34), MSI-H; father k-co (37) and his father's brother succumbed to k-co (65)
07.13	MSH6	c.3311_3312del p. (Phe1104TrpfsTer3)	Pathogenetic	Pathogenetic	Pathogenetic	Index case k-co (49), MSI-H; father k-st (50), died k-co (58), his father's brother k-co (70), his cousin k-st (61) and colon polyps
14.07	MSH6	c.892C>T p. (Arg298Ter)	Pathogenetic	Pathogenetic	Pathogenetic	Index case k-end (32), MSI-H; father leukemia (72), and her father's mother succumbed to leukemia (45)
13.68	ATM	c.3802delG p. (Val1268Ter)	Pathogenetic	-	Pathogenetic	Index case k-co (36) and several colon polyps; Sister k-co (75), brother k-pro (60) and father died k-pan (70)

k-, cancer; -co, colon; -st, stomach; end, endometrium; -pan, pancreas; -pro, prostate.