Table 3.

Genomic findings of cases; heterozygous de novo pathogenic variants in NSD2 (NM_133330.2)

Patient	Gene	Chromosome	HGVS DNA	HGVS cDNA	HGVS protein	Variant type	Predicted effect	dbSNP/ dbVar ID	Genotype	Exon # (of 24)
1	NSD2	4	1906053G>A	c.708G>A	p.Trp236Ter	Substitution	Nonsense	N/A	Heterozygous	5
2	NSD2	4	1936884dupG	c.1569dupG	p.Lys524GlufsTer17	Duplication	Frameshift	N/A	Heterozygous	9
3	NSD2	4	1918630C>T	c.793C>T	p.Gln265Ter	Substitution	Nonsense	N/A	Heterozygous	6