613843.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al. 2016 | Early-onset retinitis pigmentosa |
613843.2.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | |
613843.2.2 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.2.1 |
613843.2.3 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.2.1 |
613843.3.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Patient 11 from family KKESH-201 in the ... |
613843.3.2 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 10 from ... |
613843.3.3 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 20 from ... |
613843.3.4 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 12 from ... |
613843.3.5 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 6 from f... |
613843.3.6 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 5 from f... |
613843.3.7 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 7 from f... |
613843.3.8 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 4 from f... |
613843.3.9 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.3.1
Patient 8 from f... |
613843.4.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Patient 8 from family KKESH-203 in the p... |
613843.4.2 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Sister of 613843.4.1
Patient 8 from fam... |
613843.5.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Patient 7 from family KKESH-204 in the p... |
613843.5.2 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 20 from ... |
613843.5.3 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 19 from ... |
613843.5.4 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 18 from ... |
613843.5.5 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 4 from f... |
613843.5.6 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 6 from f... |
613843.5.7 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 42 from ... |
613843.5.8 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 46 from ... |
613843.5.9 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 48 from ... |
613843.5.10 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 26 from ... |
613843.5.11 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 27 from ... |
613843.5.12 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 21 from ... |
613843.5.13 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.5.1
Patient 15 from ... |
613843.6.1 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Patient 4 from family KKESH-215 in the p... |
613843.6.2 | Saudi Arabia | 2 | | Pathogenic | Leber Congenital Amaurosis 15 | Li et al. 2009 | Relative of 613843.6.1
Patient 7 from ... |
600132.G.2 | Saudi Arabia | 4+ | | Pathogenic | Retinitis Pigmentosa 14 | Patel et al. 2016 | Family with unknown number of affected m... |
600132.G.3 | Saudi Arabia | 4+ | | Pathogenic | Retinitis Pigmentosa 14 | Patel et al. 2016 | Family with unknown number of affected m... |
613843.G.1 | Saudi Arabia | 6 | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al, 2018 | 3 members of a family |
613843.G.2 | Saudi Arabia | 26 | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al, 2018 | 13 members of a family |
613843.G.3 | Saudi Arabia | 4 | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al, 2018 | 2 members of a family |
613843.G.5 | Saudi Arabia | 4+ | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al. 2016 | Family with unknown number of affected m... |
613843.G.6 | Saudi Arabia | 4+ | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al. 2016 | Family with unknown number of affected m... |
613843.G.7 | Saudi Arabia | 4+ | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al. 2016 | Family with unknown number of affected m... |
613843.G.8 | Saudi Arabia | 4+ | | Pathogenic | Leber Congenital Amaurosis 15 | Patel et al. 2016 | Family with unknown number of affected m... |