NM_004527.4:c.94del

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
214300.1.1	Saudi Arabia	2	NA	Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Maddirevula et al. 2018
214300.1.2	Saudi Arabia	2	NA	Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Maddirevula et al. 2018	Relative of 214300.1.1
214300.1.3	Saudi Arabia	2	NA	Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Maddirevula et al. 2018	Relative of 214300.1.1
214300.2.1	Saudi Arabia	2		Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Mohamed et al. 2013	Index patient of a large multiplex Saudi...
214300.2.2	Saudi Arabia	2		Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Mohamed et al. 2013	Great-aunt of 214300.2.1. Had a similarl...
214300.2.3	Saudi Arabia	2		Pathogenic	Klippel-Feil Syndrome 2, Autosomal Recessive	Mohamed et al. 2013	Second cousin, once-removed of 214300.2....

Epidemiology in the Arab World