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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 | 62875547 | 62875547 | A > G | ARHGEF9 ARHGEF9 ARHGEF9 |
NM_001173480.1:c.821T>C NM_001173479.1:c.968T>C NM_015185.2:c.1127T>C |
NP_001166951.1:p.Ile274Thr NP_001166950.1:p.Ile323Thr NP_056000.1:p.Ile376Thr |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 64738289 | 64738289 | C > G | LAS1L LAS1L LAS1L |
NM_031206.4:c.1505G>C NM_001170649.1:c.1454G>C NM_001170650.1:c.1328G>C |
NP_112483.1:p.Arg502Pro NP_001164120.1:p.Arg485Pro NP_001164121.1:p.Arg443Pro |
2/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | X | 67293014 | 67293014 | G > A | OPHN1 |
NM_002547.2:c.1814C>T |
NP_002538.1:p.Ser605Phe |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 67333081 | 67333081 | C > G | OPHN1 |
NM_002547.2:c.1362G>C |
NP_002538.1:p.Arg454Ser |
2/10521 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | X | 69607098 | 69607098 | G > A | KIF4A |
ENST00000374403.3:c.2183G>A |
ENSP00000363524.3:p.Arg728Gln |
3/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 70344113 | 70344113 | A > G | MED12 |
NM_005120.2:c.1849A>G |
NP_005111.2:p.Thr617Ala |
5/10521 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | X | 70389753 | 70389753 | C > T | NLGN3 NLGN3 NLGN3 |
NM_018977.3:c.2293C>T NM_001166660.1:c.2233C>T NM_181303.1:c.2353C>T |
NP_061850.2:p.Arg765Cys NP_001160132.1:p.Arg745Cys NP_851820.1:p.Arg785Cys |
3/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 74670713 | 74670713 | T > G | ZDHHC15 ZDHHC15 ZDHHC15 |
NM_001146257.1:c.276A>C NM_001146256.1:c.276A>C NM_144969.2:c.303A>C |
NP_001139729.1:p.Glu92Asp NP_001139728.1:p.Glu92Asp NP_659406.1:p.Glu101Asp |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 76849151 | 76849151 | T > C | ATRX ATRX |
NM_138270.2:c.5996+15A>G NM_000489.3:c.6110+15A>G |
2/10482 | 0.0001 | 3 | five_prime_intronic | Uncertain Significance | |

View | X | 76937461 | 76937461 | A > C | ATRX ATRX |
NM_138270.2:c.3173T>G NM_000489.3:c.3287T>G |
NP_612114.1:p.Leu1058Trp NP_000480.2:p.Leu1096Trp |
1/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 76937657 | 76937657 | C > T | ATRX ATRX |
NM_138270.2:c.2977G>A NM_000489.3:c.3091G>A |
NP_612114.1:p.Gly993Ser NP_000480.2:p.Gly1031Ser |
3/10521 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | X | 99663268 | 99663268 | T > C | PCDH19 PCDH19 PCDH19 |
NM_001105243.1:c.328A>G NM_001184880.1:c.328A>G NM_020766.2:c.328A>G |
NP_001098713.1:p.Met110Val NP_001171809.1:p.Met110Val NP_065817.2:p.Met110Val |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 100652895 | 100652895 | C > T | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.1192G>A NM_001199973.1:c.408+2450C>T NM_001199974.1:c.285+6085C>T |
NP_000160.1:p.Glu398Lys |
2/10521 | 0.00014 | 3 | Uncertain Significance | |

View | X | 107420104 | 107420104 | C > A | COL4A6 COL4A6 |
NM_001847.2:c.2656G>T NM_033641.2:c.2653G>T |
NP_001838.2:p.Val886Phe NP_378667.1:p.Val885Phe |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 128724236 | 128724236 | G > A | OCRL OCRL |
NM_000276.3:c.2695G>A NM_001587.3:c.2671G>A |
NP_000267.2:p.Glu899Lys NP_001578.2:p.Glu891Lys |
4/10521 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | X | 129281749 | 129281749 | C > T | AIFM1 AIFM1 AIFM1 AIFM1 |
NM_001130847.3:c.452G>A NM_145813.2:c.107-10589G>A NM_004208.3:c.452G>A NM_145812.2:c.440G>A |
NP_001124319.1:p.Arg151Gln NP_004199.1:p.Arg151Gln NP_665811.1:p.Arg147Gln |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 129290514 | 129290514 | G > C | AIFM1 AIFM1 AIFM1 AIFM1 |
NM_001130847.3:c.170C>G NM_145813.2:c.106+9011C>G NM_004208.3:c.170C>G NM_145812.2:c.107-1253C>G |
NP_001124319.1:p.Ser57Cys NP_004199.1:p.Ser57Cys |
2/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | X | 130413173 | 130413173 | A > C | IGSF1 IGSF1 |
ENST00000370910.1:c.1691-24T>G ENST00000370903.3:c.1718-9T>G |
1/8685 | 6.0e-05 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | X | 147744174 | 147744174 | T > C | AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.914T>C NM_001169124.1:c.926T>C NM_001169123.1:c.914T>C NM_001169125.1:c.914T>C NM_002025.3:c.926T>C |
NP_001162593.1:p.Ile305Thr NP_001162595.1:p.Ile309Thr NP_001162594.1:p.Ile305Thr NP_001162596.1:p.Ile305Thr NP_002016.2:p.Ile309Thr |
2/10521 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | X | 152954297 | 152954297 | T > C | SLC6A8 SLC6A8 |
NM_005629.3:c.262+6T>C NM_001142805.1:c.262+6T>C |
40/10521 | 0.0019 | 3 | five_prime_flank | Uncertain Significance | |

View | X | 153217045 | 153217045 | C > A | HCFC1 |
NM_005334.2:c.5374G>T |
NP_005325.2:p.Gly1792Cys |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | X | 153296191 | 153296191 | T > G | MECP2 MECP2 |
NM_001110792.1:c.1124A>C NM_004992.3:c.1088A>C |
NP_001104262.1:p.Lys375Thr NP_004983.1:p.Lys363Thr |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 153580613 | 153580613 | T > G | FLNA FLNA |
NM_001456.3:c.6681A>C NM_001110556.1:c.6705A>C |
NP_001447.2:p.Glu2227Asp NP_001104026.1:p.Glu2235Asp |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 153599549 | 153599549 | T > C | FLNA FLNA |
NM_001456.3:c.65A>G NM_001110556.1:c.65A>G |
NP_001447.2:p.Asp22Gly NP_001104026.1:p.Asp22Gly |
4/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | X | 153628971 | 153628971 | T > A | RPL10 RPL10 RPL10 |
NM_001256580.1:c.384+4T>A NM_001256577.1:c.330-72T>A NM_006013.3:c.492+4T>A |
2/10521 | 0.00014 | 3 | five_prime_flank | Uncertain Significance | |

View | X | 153629212 | 153629213 | - > C | RPL10 RPL10 RPL10 |
NM_001256580.1:c.*23dupC NM_001256577.1:c.505dupC NM_006013.3:c.*23dupC |
NP_001243506.1:p.Leu169ProfsTer7 |
1/10521 | 5.0e-05 | 3 | frameshift | Uncertain Significance |

View | X | 153667183 | 153667183 | C > G | GDI1 |
NM_001493.2:c.226C>G |
NP_001484.1:p.Leu76Val |
5/10521 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | X | 153763492 | 153763492 | T > C | G6PD G6PD |
NM_000402.3:c.466A>G NM_001042351.1:c.376A>G |
NP_000393.4:p.Asn156Asp NP_001035810.1:p.Asn126Asp |
432/10962 | 0.02819 | 3 | Other | Uncertain Significance |

View | Y | 16734259 | 16734259 | G > A | NLGN4Y NLGN4Y NLGN4Y NLGN4Y NLGN4Y |
NM_014893.4:c.260G>A NM_001164238.1:c.260G>A NR_028319.1:n.734G>A NR_046355.1:n.439G>A NM_001206850.1:c.-92-97080G>A |
NP_055708.3:p.Arg87Gln NP_001157710.1:p.Arg87Gln |
1/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |