NM_176824.3:c.602-2A>T

Likely Pathogenic, Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
615984.2.1	Saudi Arabia	2	Pathogenic	Bardet-Biedl Syndrome 7	Abu-Safieh et al. 2012	"BBS-F012-A" in the publication
615984.2.2	Saudi Arabia	2	Pathogenic	Bardet-Biedl Syndrome 7	Abu-Safieh et al. 2012	Sibling of 615984.2.1 "BBS-F012-B" in t...
615984.2.3	Saudi Arabia	2	Pathogenic	Bardet-Biedl Syndrome 7	Abu-Safieh et al. 2012	Sibling of 615984.2.1 "BBS-F012-C" in t...
615984.3.1	Saudi Arabia	2	Likely Pathogenic	Bardet-Biedl Syndrome 7	Aldahmesh et al. 2014
615984.3.2	Saudi Arabia	2	Likely Pathogenic	Bardet-Biedl Syndrome 7	Aldahmesh et al. 2014	Sibling of 615984.3.1
615984.4	Saudi Arabia	2	Pathogenic	Bardet-Biedl Syndrome 7	Patel et al. 2016
615984.G.1	Saudi Arabia	4+	Likely Pathogenic	Bardet-Biedl Syndrome 7	Patel et al. 2016	Family with unknown number of affected m...