Table 1:

Variants identified and reported by clinical exome sequencing

Gene	cDNA change	Protein change	Variant Classification	Zygosity	Allele counts in ExAC database	Disease Association
SETX	NM_015046.5: c.4738C>T	p.Arg1580Cys	VUS	Homozygous	1 heterozygous, 0 homozygous	Autosomal dominant juvenile amyotrophic lateral sclerosis 4 [MIM: 602433] Autosomal recessive ataxia-ocular apraxia-2 [606002].
CLN8	NM_018941.3: c.685C>G	p.Pro229Ala	VUS	Heterozygous (Maternally inherited)	1397 heterozygous, 93 homozygous	Autosomal recessive neuronal ceroid lipofuscinosis-8 [MIM: 600143].
APP	NM_000484.3: c.1075C>T	p.Arg359*	VUS	Homozygous	7 heterozygous, 0 homozygous	Autosomal dominant familial Alzheimer disease-1 [MIM: 104300].