Table 2. Genetic analysis in five children with childhood ataxia with central nervous system hypomyelination.

Case number	Gene	Ex	Zygosity	Variant	HGVS annotation	Amino acid position	ACMG	HGMD	CLinVAr	dbSNP	Mutation taster	SIFT	LRT
8 and 18	EIF2B3	11	HOM	c.1270 T > G/ p.C424G	NM_020365.5:c.1270T > G	p.Cys424Gly	VUS	DC			DC	DE	DE
10	EIF2B3	4	HOM	c.350T > C/ p.V117A	NM_020365.5:c.350T > C	p.Val117Ala	VUS		VUS	rs1423018308	DC	DE	DE
11	EIF2B5	4	HOM	c.584G > A/ p.R195H	NM_003907.3:c.584G > A	p.Arg195His	LP	DC	Pathogenic	rs113994054	DC	DE	DE
17	EIF2B3	2	HOM	c.43C > T/ p.R15Y	NM_020365.5:c.43C > T	p.Arg15Tyr	VUS		VUS	rs200409938	DC	DE	DE

Abbreviations: ACMG, American College of Medical Genetics and Genomics; DC, disease causing; DE, deleterious; Ex, exon; HGMD, human genetic variation database; HOM, homozygous; LP, likely pathogenic; VUS, variants of uncertain significance.