NM_006949.4:c.1727del

Likely Pathogenic

Deletion

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613101.4.1	Lebanon	2	NA	Likely Pathogenic	Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease	Pagel et al. 2012
613101.4.2	Lebanon	2	NA	Likely Pathogenic	Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease	Pagel et al. 2012	Sister of 613101.4.1