NM_014339.7:c.112_119del

Likely Pathogenic, Pathogenic

Deletion

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613953.2.1	Saudi Arabia	2	NA	Pathogenic	Immunodeficiency 51	Lévy et al. 2016	Patient from 'kindred G' in the publicat...
613953.2.2	Saudi Arabia	2	NA	Pathogenic	Immunodeficiency 51	Lévy et al. 2016	Sister of 613953.2.1
613953.2.3	Saudi Arabia	1	NA			Lévy et al. 2016	Father of 613953.2.1
613953.2.4	Saudi Arabia	1	NA			Lévy et al. 2016	Mother of 613953.2.1
613953.5	Saudi Arabia	2		Likely Pathogenic	Immunodeficiency 51	Monies et al. 2017