Table 3.

Genetic findings of 11 participants with pediatric genetic white matter disorders

Case	Gene	Mutation	1000 g/ESP6500 /GnomAD	SIFT/Polyphen2 /MutationTaster	Clinvar	ACMG	PMID
1	ABCD1 (NM_000033)	c.1415_1416del p.Q472fs	-/-/-		Pathogenic	Pathogenic	7,849,718
2		c.520T > G p.Y174D	-/-/-	D/D/A	Pathogenic	Likely pathogenic	7,849,723
3		c.796G > A p.G266R	-/-/-	D/D/A	Pathogenic	Likely pathogenic	9,195,223
4		c.1028G > A p.G343D	-/-/-	D/D/D	Likely pathogenic	VUS
5	EIF2B3 (NM_020365.4)	c.130G > A p.E44K	0.0002/-/0.000008	D/D/D	VUS	VUS	34,755,279
		c.450dupA p.A151fs	-/-/-		Likely pathogenic	Likely pathogenic
6	EIF2B4 (NM_001034116.1)	c.1337G > A p.R446H	-/-/0.00006	D/D/D		VUS	35,860,328
		c.885 + 2T > G	-/-/-			Pathogenic
7	EIF2B5 (NM_003907)	c.C385T p.R129X	-/-/0.000004		Likely pathogenic	Pathogenic
		c.G633T p.R211S	-/-/-	D/P/D		VUS
8	ARSA (NM_000487.5)	c.448 C > T p.P150S	-/-/-	D/D/D	VUS	VUS
		c.242G > A p.G81D	-/-/-	D/D/D		VUS
9	GFAP (NM_002055.4)	c.1246 C > T p.R416W	-/0.0005/0.00003	D/D/D	Pathogenic	Likely pathogenic	16,826,512
10	NDUFS1 (NM_005006.6)	c.266T > A p.V89E	-/-/-	D/P/D		VUS
		c.1609 A > C p.I537L	-/-/0.00003	T/B/D		VUS
11	MPV17 (NM_002437)	c.A263T:p.K88M	-/-/0.00006	D/D/D	Likely pathogenic	VUS	22,964,873
		c.C424T:p.Q142X	-/-/-			Likely pathogenic
		c.A265T:p.M89L	-/-/0.00005	D/P/D		VUS

VUS, variants of uncertain significance