NM_001195129.2:c.1066dup

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613517.1	Saudi Arabia	2	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011
613517.2	Saudi Arabia	2	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011	Affected parents
613517.3	Saudi Arabia	2	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011
613517.G.2	Saudi Arabia	6	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011	3 affected siblings
613517.G.3	Saudi Arabia	8	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011	4 affected siblings
613517.G.4	Saudi Arabia	4	Likely Pathogenic	Microphthalmia, Isolated 6	Nowilaty et al. 2013; Aldahmesh et al. 2011	2 affected siblings

Epidemiology in the Arab World