Table 3.

Genotypes of all WS probands in details and pathogenicity predictions

Family ID	Clinical Diagnosis	Inheritance status	Gene	cDNA	Protein change	Zygote	Novelty	ACMG classification	ACMG criteria
F-1	WS2	Familial	SOX10	c.553 C > T	p. Gln185*	Heterozygous	Novel	Pathogenic	PVS1 + PM2 + PP4
F-2	WS1	Familial	PAX3	c.452-2 A > G	–	Heterozygous	(Tassabehji et al.,1994)	Pathogenic	PVS1 + PM2 + PP5
F-3	WS1	Familial	PAX3	c.838delG	p. Ala280fs*4	Heterozygous	Novel	Pathogenic	PVS1 + PM2 + PP4
S-4	WS1	–	PAX3	c.214 A > G	p. Ile72Val	Heterozygous	Novel	Variants of uncertain significance	PM1 + PM2 + PP3
S-5	WS2	–	SOX10	c.336G > A	p. Met112Ile	Heterozygous	(Chaoui et al.,2011)	Likely Pathogenic	PS1 + PM2 + PP3
S-6	WS2	De novo	SOX10	c.544_557delAAGGCCGCCCAGGG	p.Lys182Argfs*94	Heterozygous	Novel	Pathogenic	PVS1 + PS2 + PM2
S-7	WS1	–	MITF	c.626 A > T	p. His209Leu	Heterozygous	Novel	Likely Pathogenic	PM1 + PM2 + PP3 + PM5
S-8	WS2	–	SOX10	c.762delA	p. Asp255Thr fs*31	Heterozygous	Novel	Pathogenic	PVS1 + PM2