Table 2.

Genomic findings

Gene	Genomic location	HGVS cDNA	HGVS protein	Zygosity	Parent of origin	Variant interpretation
ARID1B	NM_020732.3: Chr 6:157495211GCAAAG>G	c.3096_3100delCAAAG	p.Lys1033Argfs*32	Heterozygous	De novo	Likely pathogenic

HGVS, Human Genome Variation Society.