Table 2.

Pathogenic or likely pathogenic variants based on the ACMG guidelines

Variant information									Database							Frequency
Gene	OMIM number	Chr: pos	Variant	AA change	dbSNP	ACMG interpretation result	Criteria	Disease‐associated	EmVClass	Clinvitae	M‐CAP score	ClinVar	HGMD	VarSome	InterVar	Maximum minor Allele frequency	Frequency in Taiwan
MSH6	120435	2:48026566	NM_000179.2:c.1444C>T	R482X	rs63750909	P	PVS1 PM1 PM2 PP3	Lynch syndrome	NA	P	PP	P	DM	P	P	0.0006	NA
TSC2	613254	16:2100489	NM_000548.5:c.225+2T>C		NA	LP	PVS1 PM2 PP3	Tuberous sclerosis syndrome	NA	NA	NA	LP	NA	P	NA	NA	NA
SCN5A	603830	3:38645439	NM_000335.5:c.1654G>C	G552R	rs3918389	LP	PS1 PM1 PM2 PP3	Brugada syndrome	NA	NA	PP	NA	NA	LP	LP	0.0002	NA
ATP7B	277900	13:52511739	NM_000053.4:c.3775_3776insAAAG	G1259Efs*14	NA	P	PVS1 PM1 PM2 PP3	Wilson disease	NA	NA	NA	NA	NA	P	NA	NA	NA
ATP7B	277900	13:52523835	NM_000053.4:c.2828G>A	G943D	rs779323689	LP	PS1 PM1 PM2 PP3	Wilson disease	NA	P/LP	PP	P/LP	DM	LP	LP	0.0019	0.00066
ATP7B	277900	13:52523859	NM_000053.4:c.2804C>T a	T935M	rs750019452	LP	PS1 PM1 PM2 PP3	Wilson disease	NA	P/LP	PP	P/LP	DM	LP	LP	0.0024	0.00198
ATP7B	277900	13:52532469	NM_000053.4:c.2333G>T	R778L	rs28942074	P	PS1 PS3 PM1 PM2 PP3	Wilson disease	P	P	PP	P	DM	P	LP	0.0023	0.00165

Abbreviations: DM, disease‐causing mutation; LB, likely benign; LP, likely pathogenic; NA, not available; P, pathogenic; PP, possibly pathogenic; VUS, variant of uncertain significance.

^a ATP7B c.2804C>T was identified in two individuals.