NM_016277.4:c.482-1G>A

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
201000.1.1	United Arab Emirates	2	Likely Pathogenic	Carpenter Syndrome 1	Ben-Salem et al. 2013
201000.1.2	United Arab Emirates	2	Likely Pathogenic	Carpenter Syndrome 1	Ben-Salem et al. 2013	Sister of 201000.1.1
201000.1.3	United Arab Emirates	1	Likely Pathogenic		Ben-Salem et al. 2013	Unaffected father of 201000.1.1
201000.1.4	United Arab Emirates	1	Likely Pathogenic		Ben-Salem et al. 2013	Unaffected mother of 201000.1.1
201000.1.5	United Arab Emirates	1	Likely Pathogenic		Ben-Salem et al. 2013	Unaffected brother of 201000.1.1