NM_001257966.1:c.1733T>A | Palestine | chr1:197421561 | | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.225100T>A; NM_001257966.1:c.1733T>A; NP_001244895.1:p.Val578Glu | 1266363944 | |
NM_001257966.1:c.1842delT | Palestine | chr1:197421670 | | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.225209delT; NM_001257966.1:c.1842delT; NP_001244895.1:p.Gly614Glyfs*6 | | |
NM_001257966.1:c.1844G>T | Palestine | NC_000001.11:g.197421672G>T | Likely Pathogenic, Uncertain Significance | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.225211G>T; NM_001257966.1:c.1844G>T; NP_001244895.1:p.Gly615Val | 768905244 | 812299 |
NM_001257966.1:c.455G>A | Palestine | NC_000001.11:g.197328806G>A | Likely Pathogenic, Pathogenic | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.132345G>A; NM_001257966.1:c.455G>A; NP_001244895.1:p.Cys152Tyr | 1571848744 | 812296 |
NM_201253.2:c.1345C>T | Lebanon | NC_000001.11:g.197421173C>T | | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.1:g.157896C>T; NM_201253.2:c.1345C>T; NP_957705.1:p.Gln449Ter | | |
NM_201253.2:c.1772_1775del | Lebanon | NC_000001.11:g.197421600_197421603del | Pathogenic | Pathogenic | Leber Congenital Amaurosis 8; Retinitis Pigmentosa 12 | NG_008483.2:g.225139_225142del; NM_201253.2:c.1772_1775del; NP_957705.1:p.Cys591SerfsTer29 | 1664325377 | 867150 |
NM_201253.2:c.2234C>T | Lebanon; Palestine; Sa... | chr1:197427559 | Likely Pathogenic, Pathogenic | Pathogenic | Leber Congenital Amaurosis 8; Retinitis Pigmentosa 12 | NG_008483.2:g.231098C>T; NM_201253.2:c.2234C>T; NP_957705.1:p.Thr745Met | 28939720 | 5733 |
NM_201253.2:c.3159T>G | Saudi Arabia | chr1:197435022 | | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.238561T>G; NM_201253.2:c.3159T>G; NP_957705.1:p.Cys1053Trp | | |
NM_201253.2:c.80G>C | Saudi Arabia | NC_000001.11:g.197328431G>C | Pathogenic | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.131970G>C; NM_201253.2:c.80G>C; NP_957705.1:p.Cys27Ser | 1460946384 | 978990 |
NM_201253.3:c.1180T>C | Saudi Arabia | NC_000001.11:g.197421008T>C | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Retinitis Pigmentosa 12 | NG_008483.3:g.224506T>C; NM_201253.3:c.1180T>C; NP_957705.1:p.Cys394Arg | 786205450 | 190990 |
NM_201253.3:c.1463T>C | Saudi Arabia | NC_000001.11:g.197421291T>C | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Retinitis Pigmentosa 12 | NG_008483.3:g.224789T>C; NM_201253.3:c.1463T>C; NP_957705.1:p.Phe488Ser | 777377174 | 978991 |
NM_201253.3:c.2024G>A | Saudi Arabia | NC_000001.11:g.197421852G>A | | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.225391G>A; NM_201253.3:c.2024G>A; NP_957705.1:p.Trp675Ter | | 978992 |
NM_201253.3:c.2234C>T | United Arab Emirates | NC_000001.11:g.197427559C>T | Pathogenic | Likely Pathogenic | Leber Congenital Amaurosis 8; Retinitis Pigmentosa 12 | NG_008483.2:g.231098C>T; NM_201253.3:c.2234C>T; NP_957705.1:p.Thr745Met | 28939720 | 5733 |
NM_201253.3:c.2330_2336del | Saudi Arabia | NC_000001.11:g.197427655_197427661del | Likely Pathogenic | Likely Pathogenic | Retinitis Pigmentosa 12 | NG_008483.3:g.231153_231159del; NM_201253.3:c.2330_2336del; NP_957705.1:p.Pro777LeufsTer4 | 786205610 | 191264 |
NM_201253.3:c.2498G>A | Iraq | NC_000001.11:g.197427823G>A | Pathogenic | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.231362G>A; NM_201253.3:c.2498G>A; NP_957705.1:p.Gly833Asp | 1571540258 | 812300 |
NM_201253.3:c.2505_2508del | United Arab Emirates | NC_000001.11:g.197427830_197427833del | Pathogenic | Likely Pathogenic, Uncertain Significance | Retinitis Pigmentosa 12 | NG_008483.2:g.231369_231372del; NM_201253.3:c.2505_2508del; NP_957705.1:p.Pro836ThrfsTer19 | 778419716 | 1446299 |
NM_201253.3:c.2555T>C | Palestine; Syria | chr1:197427880 | Pathogenic | Likely Pathogenic, Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.231419T>C; NM_201253.3:c.2555T>C; NP_957705.1:p.Ile852Thr | 62636271 | 99883 |
NM_201253.3:c.2677-7T>A | United Arab Emirates | NC_000001.11:g.197429442T>A | | Likely Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.232981T>A; NM_201253.3:c.2677-7T>A; NP_957705.1:p.? | | |
NM_201253.3:c.2701G>T | Saudi Arabia | NC_000001.11:g.197429473G>T | Likely Pathogenic | Likely Pathogenic | Retinitis Pigmentosa 12 | NG_008483.3:g.232971G>T; NM_201253.3:c.2701G>T; NP_957705.1:p.Val901Phe | 1664767158 | 978993 |
NM_201253.3:c.2911A>G | United Arab Emirates | NC_000001.11:g.197434774A>G | | Likely Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.238313A>G; NM_201253.3:c.2911A>G; NP_957705.1:p.Arg971Gly | | |
NM_201253.3:c.3307G>A | Palestine | chr1:197435170 | Pathogenic | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.238709G>A; NM_201253.3:c.3307G>A; NP_957705.1:p.Gly1103Arg | 62636275 | 5739 |
NM_201253.3:c.3447G>C | United Arab Emirates | NC_000001.11:g.197435310G>C | | Likely Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.238849G>C; NM_201253.3:c.3447G>C; NP_957705.1:p.Leu1149Phe | | |
NM_201253.3:c.3961T>G | United Arab Emirates | NC_000001.11:g.197442248T>G | Likely Pathogenic | Likely Pathogenic | Retinitis Pigmentosa 12 | NG_008483.2:g.245787T>G; NM_201253.3:c.3961T>G; NP_957705.1:p.Cys1321Gly | 62635649 | 801602 |
NM_201253.3:c.4121_4130del | Palestine | chr1:197477779-197477788 | Pathogenic | Pathogenic | Leber Congenital Amaurosis 8 | NG_008483.2:g.281318_281327del; NM_201253.3:c.4121_4130del; NP_957705.1:p.Ala1374fs | 281865175 | 5740 |
NM_201253.3:c.80G>T | Saudi Arabia | NC_000001.11:g.197328431G>T | Likely Pathogenic, Pathogenic | Pathogenic | Retinitis Pigmentosa 12 | NG_008483.3:g.131929G>T; NM_201253.3:c.80G>T; NP_957705.1:p.Cys27Phe | 1460946384 | 978995 |