Table 2.

Molecular findings in pediatric patients exhibiting pathogenic/likely pathogenic results.

Case no.	Sex	Age at testing	Phenotypic feature	Gene	Sequence variant	Amino acid variant	Hom/het	Interpretation	ACMG classification	Molecular diagnosis
1	Female	7y	ASD	PRODH9 (606,810, AR)	c.1292G > A	p.R431H	Het	Nonsynonymous SNV	Likely pathogenic	Hyperprolinemia, Type I
					c.1322T > C	p.L441P	Het	Nonsynonymous SNV
2	Male	5y	ASD	PTEN (601,728, AD)	c.487dupA	p.D162 fs	Het	Frameshift insertion	Pathogenic	Macrocephaly/autism syndrome
3	Male	5y	ASD	DEPDC5 (614,191, AD)	c.3092C > A	p.P1031H	Het	Nonsynonymous SNV	Likely pathogenic	Epilepsy, familial focal, with variable foci 1
4	Male	3y	ASD	SATB2 (608,148, AD)	c.1166G > A	p.R389H	Het	Nonsynonymous SNV	Likely pathogenic	Glass syndrome
5	Male	3y	ASD	CYFIP1 (606,322, AD)	c.3401_3414 del	p.M1134 fs	Het	Frameshift deletion	Likely pathogenic	Autism