NM_138425.4:c.53-2A>G

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
218340.5	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Alrakaf et al. 2018
218340.6	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Alrakaf et al. 2018
218340.7	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Alrakaf et al. 2018
218340.19	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Monies et al. 2019
218340.20.1	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Charng et al. 2016	Proband from 'family 024' in the publica...
218340.20.2	Saudi Arabia	1			Charng et al. 2016	Father of 218340.20.1
218340.20.3	Saudi Arabia	1			Charng et al. 2016	Mother of 218340.20.1

Epidemiology in the Arab World