TABLE 2.

ACMG classifications of three pathogenic variants in AD.

Gene	Variant types	Transmembrane	ACMG classifications	No.
APP	Missense	+	Pathogenic	11
APP	Missense	+	Likely pathogenic	6
APP	Missense	+	VUS	2
APP	Missense	+	Benign	2
APP	NA	NA	VUS	2
APP	Missense	−	Pathogenic	5
APP	Missense	−	Likely pathogenic	7
APP	Missense	−	VUS	27
APP	Missense	−	Benign	1
APP	Indel	−	Likely pathogenic	1
APP	Indel	NA	VUS	2
PSEN1	Missense	+	Pathogenic	85
PSEN1	Missense	+	Likely pathogenic	95
PSEN1	Missense	+	VUS	7
PSEN1	Missense	−	Pathogenic	37
PSEN1	Missense	−	Likely pathogenic	46
PSEN1	Missense	−	VUS	25
PSEN1	Indel	+	Pathogenic	6
PSEN1	Indel	+	Likely pathogenic	5
PSEN1	Indel	−	Pathogenic	3
PSEN1	Indel	−	Likely pathogenic	2
PSEN1	Indel	−	VUS	3
PSEN1	Frameshift	−	Pathogenic	1
PSEN1	Missense,CNV	NA	Pathogenic	6
PSEN1	splicing	NA	Likely pathogenic	2
PSEN2	Missense	+	Pathogenic	3
PSEN2	Missense	+	Likely pathogenic	3
PSEN2	Missense	+	VUS	22
PSEN2	Missense	+	Likely benign	1
PSEN2	Missense	+	Benign	2
PSEN2	Missense	−	Likely pathogenic	1
PSEN2	Missense	−	VUS	21
PSEN2	Missense	−	Benign	3
PSEN2	Splicing	NA	Likely pathogenic	1
PSEN2	Frameshift	NA	Pathogenic	2
PSEN2	Frameshift	−	Pathogenic	2
PSEN2	Frameshift	−	Likely pathogenic	1
PSEN2	Frameshift	−	VUS	1

No., number; CNV, copy number variation; VUS, uncertain significance; NA, not applied.