Table 1.

Cohort—molecular characteristics

Patient no.	Patient ID	Aberrations	Pathogenicity	Inheritance	SETD1B aberrations/variations	KDM2B aberration	SETD1B DNAm signature	Batch	Previously reported
1	1_mut	p.Arg1301*	Pathogenic	de novo	Yes	No	Yes	1	No;
2	2_mut	p.Arg1902Cys	Pathogenic	de novo	Yes	No	Yes	1	No
3	3_mut	p.Arg1902Cys	Pathogenic	de novo	Yes	No	Yes	2	Yes; Hiraide et al. [8]
4	4_mut	p.Arg1885Trp	Pathogenic	de novo	Yes	No	Yes	2	Yes; Hiraide et al. [8]
5	5_mut	p.Arg1885Trp	Pathogenic	unknown	Yes	No	Yes	2	No
6	6_mut	p.Glu1692del	VUS	unknown	Yes	No	No	1	No
7	7_mut	p.Glu1160Lys	VUS	de novo	Yes	No	No	2	No
8	1_del12q	The minimal deletion:	VUS	Pat. inheritance	No	Yes	No	1	Yes; Chouery et al. [2]
		12q24.3(121150820-122120257)
		The maximal deletion:
		12q24.3(121139660-122135589)
9	2_del12q	The minimal deletion:	Pathogenic	de novo	Yes	Yes	Yes	2	No
		12q24.31(121838818-122405204)
		The maximal deletion:
		12q24.31(121814901-122423659)
10	3_del12q	The minimal deletion:	Pathogenic	de novo	Yes	Yes	Yes	1	Yes; Labonne et al. [5]
		12q24.31(121895610-122271171)
		The maximal deletion:
		12q24.31(121882128-122294222)
11	4_del12q	The minimal deletion:	Pathogenic	de novo	Yes	No	Yes	1	Yes; Qiao et al. [4]
		12q24.31(122255880-123758046)
		The maximal deletion:
		12q24.31(122234178-123780094)
12	5_del12q	The minimal deletion:	VUS	unknown	No	No	No	2	No
		12q24.31q-12q24.32(122844745-127838399)
		The maximal deletion:
		12q24.31q-12q24.32(12:122825331-127854607)
13	dup12q	The minimal duplication:	VUS	Mat. inheritance	No	No	No	1	No
		12q24.12(12:112169989-112313658)

*Mutations are reported according to NM_001353345.1; Hg19

The minimal deletion/duplication within the given start and end position

The maximal deletion—without the given start and end position (between)