NM_004836.6:c.1293G>A

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
226980.4.1	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016
226980.4.2	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016	Sibling of 226980.4.1
226980.4.3	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016	First cousin of 226980.4.1
226980.4.4	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016	Second cousin of 226980.4.1
226980.4.5	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016	Second cousin of 226980.4.1
226980.4.6	United Arab Emirates	2	Likely Pathogenic	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	Deeb et al. 2016	Second cousin of 226980.4.1