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Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|

View | X | 9733856 | 9733856 | A > G | GPR143 |
NM_000273.2:c.2T>C |
NP_000264.2:p.Met1? |
1/5119 | 0.0002 | 2 | loss_of_initiation | Pathogenic |

View | X | 10181808 | 10181808 | C > T | CLCN4 CLCN4 |
NM_001256944.1:c.1382C>T NM_001830.3:c.1664C>T |
NP_001243873.1:p.Ala461Val NP_001821.2:p.Ala555Val |
1/5119 | 0.0001 | 1 | non_synonymous | Pathogenic |

View | X | 15349984 | 15349985 | - > C | PIGA PIGA PIGA PIGA |
NM_002641.3:c.68dupG NM_020473.3:c.13+3638dupG NR_033836.1:n.173+11dupG NR_033835.1:n.184dupG |
NP_002632.1:p.Ser24LysfsTer6 |
2/5119 | 0.00029 | 1 | Pathogenic | |

View | X | 18606106 | 18606106 | C > T | CDKL5 CDKL5 |
NM_003159.2:c.587C>T NM_001037343.1:c.587C>T |
NP_003150.1:p.Ser196Leu NP_001032420.1:p.Ser196Leu |
1/5771 | 9.0e-05 | 1 | Pathogenic | |

View | X | 41075215 | 41075215 | C > T | USP9X USP9X |
NM_001039591.2:c.5395C>T NM_001039590.2:c.5395C>T |
NP_001034680.2:p.Arg1799Ter NP_001034679.2:p.Arg1799Ter |
1/5119 | 0.0001 | 1 | premature_stop | Pathogenic |

View | X | 66905887 | 66905887 | T > G | AR AR |
NM_001011645.2:c.208T>G NM_000044.3:c.1804T>G |
NP_001011645.1:p.Cys70Gly NP_000035.2:p.Cys602Gly |
1/6913 | 0.00014 | 1 | non_synonymous | Pathogenic |

View | X | 68049711 | 68049712 | - > CCTGGAGCCCGTAT | EFNB1 |
NM_004429.4:c.101_114dupCCGTATCCTGGAGC |
NP_004420.1:p.Ser39ProfsTer12 |
1/6913 | 7.0e-05 | 2 | frameshift | Pathogenic |

View | X | 68058527 | 68058527 | C > T | EFNB1 |
NM_004429.4:c.196C>T |
NP_004420.1:p.Arg66Ter |
1/6913 | 7.0e-05 | 1 | Pathogenic | |

View | X | 69176937 | 69176937 | C > T | EDA EDA EDA |
NM_001399.4:c.457C>T NM_001005609.1:c.457C>T NM_001005612.2:c.457C>T |
NP_001390.1:p.Arg153Cys NP_001005609.1:p.Arg153Cys NP_001005612.2:p.Arg153Cys |
1/6913 | 0.00014 | 1 | Pathogenic | |

View | X | 70330754 | 70330755 | - > CAGA | IL2RG |
NM_000206.2:c.258_261dupTCTG |
NP_000197.1:p.His88SerfsTer10 |
2/6913 | 0.00022 | 2 | frameshift | Pathogenic |

View | X | 73745669 | 73745669 | C > T | SLC16A2 |
NM_006517.4:c.1111C>T |
NP_006508.2:p.Arg371Cys |
1/6913 | 0.00014 | 1 | Pathogenic | |

View | X | 77276527 | 77276527 | G > A | ATP7A |
NM_000052.5:c.2867G>A |
NP_000043.3:p.Trp956Ter |
1/7003 | 0.00014 | 1 | Pathogenic | |

View | X | 100653861 | 100653861 | C > T | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.713G>A NM_001199973.1:c.408+3416C>T NM_001199974.1:c.285+7051C>T |
NP_000160.1:p.Ser238Asn |
1/6913 | 0.00014 | 1 | Pathogenic | |

View | X | 100656740 | 100656740 | C > T | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.427G>A NM_001199973.1:c.408+6295C>T NM_001199974.1:c.285+9930C>T |
NP_000160.1:p.Ala143Thr |
11/6913 | 0.00116 | 1 | Pathogenic | |

View | X | 107834462 | 107834462 | G > A | COL4A5 COL4A5 |
NM_033380.2:c.1339+1G>A NM_000495.4:c.1339+1G>A |
1/6913 | 0.00014 | 2 | donor_site | Pathogenic | |

View | X | 107844705 | 107844712 | AGGTCTTC > - | COL4A5 COL4A5 |
NM_000495.4:c.2031_2038del NM_033380.2:c.2031_2038del |
NP_000486.1:p.Gly678ArgfsTer2 NP_203699.1:p.Gly678ArgfsTer2 |
1/6913 | 7.0e-05 | 2 | frameshift | Pathogenic |

View | X | 107935998 | 107935998 | C > - | COL4A5 COL4A5 |
NM_000495.4:c.4531del NM_033380.2:c.4549del |
NP_000486.1:p.Arg1511ValfsTer37 NP_203699.1:p.Arg1517ValfsTer37 |
1/6913 | 0.00014 | 2 | frameshift | Pathogenic |

View | X | 128696614 | 128696614 | C > - | OCRL OCRL |
NM_001587.3:c.1095del NM_000276.3:c.1095del |
NP_001578.2:p.His365GlnfsTer33 NP_000267.2:p.His365GlnfsTer33 |
2/6913 | 0.00022 | 2 | frameshift | Pathogenic |

View | X | 149809777 | 149809779 | TAA > - | MTM1 |
NM_000252.2:c.567_569del |
NP_000243.1:p.Asn189del |
1/6913 | 0.00014 | 1 | Pathogenic | |

View | X | 153135391 | 153135391 | T > C | L1CAM L1CAM L1CAM L1CAM |
NM_001278116.1:c.992-2A>G NM_024003.3:c.992-2A>G NM_001143963.2:c.977-2A>G NM_000425.4:c.992-2A>G |
1/6913 | 0.00014 | 1 | acceptor_site | Pathogenic | |

View | X | 153171352 | 153171352 | T > C | AVPR2 AVPR2 AVPR2 |
NR_027419.1:n.560-121T>C NM_000054.4:c.392T>C NM_001146151.1:c.392T>C |
NP_000045.1:p.Leu131Pro NP_001139623.1:p.Leu131Pro |
2/5119 | 0.00029 | 1 | Pathogenic | |

View | X | 153230153 | 153230153 | G > A | HCFC1 |
NM_005334.2:c.218C>T |
NP_005325.2:p.Ala73Val |
2/5119 | 0.00029 | 1 | Pathogenic | |

View | X | 153296525 | 153296526 | - > GG | MECP2 MECP2 |
NM_001110792.1:c.788_789dupCC NM_004992.3:c.752_753dupCC |
NP_001104262.1:p.Gly264ProfsTer38 NP_004983.1:p.Gly252ProfsTer38 |
1/6913 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153296806 | 153296806 | G > A | MECP2 MECP2 |
NM_001110792.1:c.509C>T NM_004992.3:c.473C>T |
NP_001104262.1:p.Thr170Met NP_004983.1:p.Thr158Met |
1/6913 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153296860 | 153296860 | G > A | MECP2 MECP2 |
NM_001110792.1:c.455C>T NM_004992.3:c.419C>T |
NP_001104262.1:p.Ala152Val NP_004983.1:p.Ala140Val |
5/6913 | 0.00051 | 1 | Pathogenic | |

View | X | 153363122 | 153363122 | T > A | MECP2 MECP2 |
NM_001110792.1:c.1A>T NM_004992.3:c.-160A>T |
NP_001104262.1:p.Met1? |
1/6913 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153760605 | 153760605 | G > A | G6PD G6PD |
NM_000402.3:c.1450C>T NM_001042351.1:c.1360C>T |
NP_000393.4:p.Arg484Cys NP_001035810.1:p.Arg454Cys |
2/7192 | 0.00028 | 1 | Pathogenic | |

View | X | 153761807 | 153761807 | T > A | G6PD G6PD |
NM_001042351.1:c.848A>T NM_000402.3:c.938A>T |
NP_001035810.1:p.Asp283Val NP_000393.4:p.Asp313Val |
1/7192 | 0.00014 | 1 | Pathogenic | |

View | X | 153763492 | 153763492 | T > C | G6PD G6PD |
NM_001042351.1:c.376A>G NM_000402.3:c.466A>G |
NP_001035810.1:p.Asn126Asp NP_000393.4:p.Asn156Asp |
266/7192 | 0.02697 | 1 | Pathogenic | |

View | X | 153764217 | 153764217 | C > T | G6PD G6PD |
NM_001042351.1:c.202G>A NM_000402.3:c.292G>A |
NP_001035810.1:p.Val68Met NP_000393.4:p.Val98Met |
117/7192 | 0.01133 | 1 | Pathogenic | |

View | X | 153764371 | 153764371 | A > G | G6PD G6PD |
NM_001042351.1:c.143T>C NM_000402.3:c.233T>C |
NP_001035810.1:p.Ile48Thr NP_000393.4:p.Ile78Thr |
3/7192 | 0.00021 | 1 | Pathogenic | |

View | X | 154004468 | 154004468 | C > G | DKC1 DKC1 |
NM_001142463.1:c.1330C>G NM_001363.3:c.1345C>G |
NP_001135935.1:p.Arg444Gly NP_001354.1:p.Arg449Gly |
1/6913 | 0.00014 | 1 | non_synonymous | Pathogenic |