NM_022356.4:c.2056-1G>A

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
610915.3	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Shaheen et al. 2012; Maddirevula et al. 2018
610915.5.1	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018
610915.5.2	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.5.1
610915.5.3	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.5.1
610915.6	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018