NM_000267.3:c.1317del | United Arab Emirates | NC_000017.11:g.31206296del | | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.116320del; NM_000267.3:c.1317del; NP_000258.1:p.Arg440GlufsTer33 | | |
NM_000267.3:c.1397_1398dup | United Arab Emirates | NC_000017.11:g.31214455_31214456dup | | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.124479_124480dup; NM_000267.3:c.1397_1398dup; NP_000258.1:p.Thr467LeufsTer7 | | |
NM_000267.3:c.574C>T | United Arab Emirates | NC_000017.11:g.31169985C>T | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.80009C>T; NM_000267.3:c.574C>T; NP_000258.1:p.Arg192Ter | 397514641 | 40093 |
NM_001042492.2:c.1019_1020del | Lebanon | NC_000017.11:g.31200552_31200553del | Likely Pathogenic, Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.110576_110577del; NM_001042492.2:c.1019_1020del; NP_001035957.1:p.Ser340CysfsTer12 | 1555610903 | 547579 |
NM_001042492.2:c.1846del | United Arab Emirates | NC_000017.11:g.31225095del | | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.135119del; NM_001042492.2:c.1846del; NP_001035957.1:p.Gln616ArgfsTer15 | | |
NM_001042492.2:c.495_498delTGTT | Lebanon | chr17:31169906-31169909 | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.79930_79933delTGTT; NM_001042492.2:c.495_498delTGTT; NP_001035957.1:p.Cys167fs | 786201874 | 185021 |
NM_001042492.2:c.7380del | Iraq | NC_000017.11:g.31350241del | | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.260265del; NM_001042492.2:c.7380del; NP_001035957.1:p.Leu2461PhefsTer28 | | |
NM_001042492.3:c.1062+2T>C | United Arab Emirates | NC_000017.11:g.31200597T>C | Likely Pathogenic, Pathogenic | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.110621T>C; NM_001042492.3:c.1062+2T>C; NP_001035957.1:p.? | 2066510391 | 956905 |
NM_001042492.3:c.2540T>C | United Arab Emirates | NC_000017.11:g.31229155T>C | Likely Pathogenic, Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.139179T>C; NM_001042492.3:c.2540T>C; NP_001035957.1:p.Leu847Pro | 199474747 | 68323 |
NM_001042492.3:c.2998_2999del | Saudi Arabia | NC_000017.11:g.31230267_31230268del | Likely Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.140291_140292del; NM_001042492.3:c.2998_2999del; NP_001035957.1:p.Arg1000CysfsTer20 | 1597716817 | 800769 |
NM_001042492.3:c.3129del | Saudi Arabia | NC_000017.11:g.31230857del | | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.140881del; NM_001042492.3:c.3129del; NP_001035957.1:p.Glu1043AspfsTer3 | | |
NM_001042492.3:c.3291del | United Arab Emirates | NC_000017.11:g.31232166del | | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.142190del; NM_001042492.3:c.3291del; NP_001035957.1:p.Ala1098ProfsTer14 | | |
NM_001042492.3:c.3574G>T | Syria | NC_000017.11:g.31233079G>T | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.143103G>T; NM_001042492.3:c.3574G>T; NP_001035957.1:p.Glu1192Ter | 1442037817 | 1048690 |
NM_001042492.3:c.3721C>T | Saudi Arabia | NC_000017.11:g.31235623C>T | Pathogenic | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.145647C>T; NM_001042492.3:c.3721C>T; NP_001035957.1:p.Arg1241Ter | 137854562 | 361 |
NM_001042492.3:c.4065_4066del | United Arab Emirates | NC_000017.11:g.31249075_31249076del | | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.159098_159099del; NM_001042492.3:c.4065_4066del; NP_001035957.1:p.Glu1356IlefsTer23 | | |
NM_001042492.3:c.5347del | United Arab Emirates | NC_000017.11:g.31327577del | Pathogenic | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.237601del; NM_001042492.3:c.5347del; NP_001035957.1:p.Tyr1783IlefsTer11 | 1567612415 | 570774 |
NM_001042492.3:c.5529dup | Saudi Arabia | NC_000017.11:g.31327759dup | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.237783dup; NM_001042492.3:c.5529dup; NP_001035957.1:p.Lys1844GlnfsTer18 | 1555533628 | 423917 |
NM_001042492.3:c.6374T>C | United Arab Emirates | NC_000017.11:g.31336861T>C | Uncertain Significance | Likely Pathogenic, Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.246885T>C; NM_001042492.3:c.6374T>C; NP_001035957.1:p.Leu2125Pro | 1597843129 | 660822 |
NM_001042492.3:c.6546C>G | United Arab Emirates | NC_000017.11:g.31337486C>G | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.247510C>G; NM_001042492.3:c.6546C>G; NP_001035957.1:p.Tyr2182Ter | 876659768 | 803373 |
NM_001042492.3:c.6704+2T>G | Saudi Arabia | NC_000017.11:g.31337882T>G | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.247906T>G; NM_001042492.3:c.6704+2T>G | 1555534928 | 547681 |
NM_001042492.3:c.6733C>T | United Arab Emirates | NC_000017.11:g.31338053C>T | Pathogenic | Pathogenic | Neurofibromatosis, Type I | NM_001042492.3:c.6733C>T; NP_001035957.1:p.Gln2245Ter | 1597845013 | 657256 |
NM_001042492.3:c.7317dup | Lebanon | NC_000017.11:g.31349247dup | Pathogenic | Likely Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.259271dupA; NM_001042492.3:c.7317dup; NP_001035957.1:p.Ala2440SerfsTer8 | 1597858633 | 1456524 |
NM_001042492.3:c.775del | Saudi Arabia | NC_000017.11:g.31182552del | | Pathogenic | Neurofibromatosis, Type I | NG_009018.1:g.92576del; NM_001042492.3:c.775del; NP_001035957.1:p.Ser259AlafsTer22 | | |