TABLE 1.

Pathogenicity predictions of de novo variants in GNAO1

Gender	Patient 1 Male	Patient 2 Female	Patient 3 Male	Patient 4 Female	Patient 5 Male	Patient 6 Female	Patient 7 Female	Patient 8 Female	Patient 9 Male	Patient 10 Female	Patient 11 Male	Patient 12 Female	Patient 13 Female	Patient 14 Female
Age, y	8	2	20	15	10	2	2	15	4	6	2	5	13	10
Variant	c.118G>C (p.G40R)	c.118G>T (p.G40W)	c.119G>A (p.G40E)	c.119G>A (p.G40E)	c.620C>A (p.S207Y)	c.625C>T (p.R209C)	c.626G>A (p.R209H)	c.662C>A (p.A221D)	c.692A>G (p.Y231C)	c.818A>T (D273V)	c.836T>A (p.I279N)	c.871T>A (p.Y291N)	c.1030_ 1032delATT (p.I344del)	c.1046_1055del10ins10 (p.R349_G352delinsQGCA)
Conservation	High	High	High	High	High	High	High	High	High	High	High	High	N/A	N/A
Align‐GVGD	C15	C15	C0	C0	C65	C65	C25	C65	C65	C15	C0	C0	N/A	N/A
SIFT	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	Deleterious	N/A (in‐Frame deletion)	N/A
Mutation Taster	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	Disease causing	N/A	N/A
PolyPhen‐2	1.0	1.0	1.0	1.0	1.0	1.0	1.0	0.989	0.999	0.993	1.0	0.997	N/A	N/A
ClinVar (number of cases)	Pathogenic (1); uncertain significance (1)	Pathogenic (1)	Pathogenic (1)	Pathogenic (1)	Pathogenic (1)	Pathogenic/likely pathogenic (3)	Pathogenic (2); uncertain significance (1)	N/A	Likely pathogenic (1)	N/A	Pathogenic (1)	Likely pathogenic (1)	N/A	N/A
ExAC AF	0	0	0	0	0	0	0	0	0	0	0	0	0	0
gnomAD AF	0	0	0	0	0	0	0	0	0	0	0	0	0	0

GNAO1 variants were annotated based on transcript NM_020988.2.

AF, allele frequency; N/A, not available.