NC_000023.11:g.154029098_154030767del | United Arab Emirates | NC_000023.11:g.154029098_154030767del | | Pathogenic | Rett Syndrome | | | |
NM_001110792.1:c.722C>A | United Arab Emirates | NC_000023.11:g.154031142G>T | Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.2:g.110986C>A; NM_001110792.1:c.722C>A; NP_001104262.1:p.Ser241Ter | 61749739 | 143658 |
NM_001110792.1:c.932C>T | United Arab Emirates | NC_000023.11:g.154030932G>A | | Likely Pathogenic | Autism, Susceptibility to, X-Linked 3 | NG_007107.2:g.111196C>T; NM_001110792.1:c.932C>T; NP_001104262.1:p.Thr311Ile | | |
NM_001110792.2:c.1104C>G | Saudi Arabia | NC_000023.11:g.154030760G>C | | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.111344C>G; NM_001110792.2:c.1104C>G; NP_001104262.1:p.Ser368Arg | | |
NM_001110792.2:c.352C>T | Saudi Arabia | NC_000023.11:g.154032268G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.109836C>T; NM_001110792.2:c.352C>T; NP_001104262.1:p.Arg118Trp | 28934907 | 11814 |
NM_001110792.2:c.433C>T | Saudi Arabia | NC_000023.11:g.154031431G>A | Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.110673C>T; NM_001110792.2:c.433C>T; NP_001104262.1:p.Arg145Cys | 28934904 | 11809 |
NM_001110792.2:c.538C>T | Saudi Arabia | NC_000023.11:g.154031326G>A | Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.110778C>T; NM_001110792.2:c.538C>T; NP_001104262.1:p.Arg180Ter | 61748421 | 11828 |
NM_001110792.2:c.916C>T | Saudi Arabia | NC_000023.11:g.154030948G>A | Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.111156C>T; NM_001110792.2:c.916C>T; NP_001104262.1:p.Arg306Ter | 61751362 | 11819 |
NM_001110792.2:c.952C>T | Saudi Arabia | NC_000023.11:g.154030912G>A | Pathogenic | Likely Pathogenic | Rett Syndrome | NG_007107.3:g.111192C>T; NM_001110792.2:c.952C>T; NP_001104262.1:p.Arg318Cys | 28935468 | 11824 |
NM_004992.3:c.1093_1095delGAG | Lebanon | NC_000023.11:g.154030735_154030737del | Uncertain Significance | | Rett Syndrome | NG_007107.2:g.111393_111395del; NM_004992.3:c.1093_1095delGAG; NP_004983.1:p.Glu365del | 786205032 | 189746 |
NM_004992.3:c.1157_1200del | Lebanon | NC_000023.11:g.154030630_154030673del | | Likely Pathogenic | Rett Syndrome | NG_007107.2:g.111457_111500del; NM_004992.3:c.1157_1200del; NP_004983.1:p.Leu386GlnfsTer4 | 63749748 | 143372 |
NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | Lebanon | ChrX:154030644-154030664 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.111464_111484delinsCTGAGCCCCAGGACTTGAGCA; NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA; NP_004983.1:p.Pro389Ter | 786205019 | 189665 |
NM_004992.3:c.316C>T | Lebanon | ChrX:154032268 | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Rett Syndrome | NG_007107.2:g.109860C>T; NM_004992.3:c.316C>T; NP_004983.1:p.Arg106Trp | 28934907 | 11814 |
NM_004992.3:c.397C>T | Lebanon | ChrX:154031431 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.110697C>T; NM_004992.3:c.397C>T; NP_004983.1:p.Arg133Cys | 28934904 | 11809 |
NM_004992.3:c.473C>T | Lebanon | ChrX:154031355 | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Rett Syndrome | NG_007107.2:g.110773C>T; NM_004992.3:c.473C>T; NP_004983.1:p.Thr158Met | 28934906 | 11811 |
NM_004992.3:c.502C>T | Lebanon | ChrX:154031326 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.110802C>T; NM_004992.3:c.502C>T; NP_004983.1:p.Arg168Ter | 61748421 | 11828 |
NM_004992.3:c.674C>G | Lebanon | ChrX:154031154 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.110974C>G; NM_004992.3:c.674C>G; NP_004983.1:p.Pro225Arg | 61749715 | 143653 |
NM_004992.3:c.763C>T | Lebanon | ChrX:154031065 | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Rett Syndrome | NG_007107.2:g.111063C>T; NM_004992.3:c.763C>T; NP_004983.1:p.Arg255Ter | 61749721 | 11829 |
NM_004992.3:c.808C>T | Lebanon | ChrX:154031020 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.111108C>T; NM_004992.3:c.808C>T; NP_004983.1:p.Arg270Ter | 61750240 | 11815 |
NM_004992.3:c.916C>T | Lebanon | ChrX:154030912 | Pathogenic | Pathogenic | Rett Syndrome | NG_007107.2:g.111216C>T; NM_004992.3:c.916C>T; NP_004983.1:p.Arg306Cys | 28935468 | 11824 |
NM_004992.3:c.964C>G | Lebanon | NC_000023.11:g.154030864G>C | Pathogenic | | Rett Syndrome | NG_007107.2:g.111264C>G; NM_004992.3:c.964C>G; NP_004983.1:p.Pro322Ala | 61751449 | 143753 |