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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 | 70342362 | 70342362 | G > A | MED12 |
NM_005120.2:c.1253G>A |
NP_005111.2:p.Arg418His |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 70343084 | 70343084 | G > A | MED12 |
NM_005120.2:c.1617+8G>A |
2/13810 | 0.00011 | 3 | five_prime_intronic | Uncertain Significance | |

View | X | 70344113 | 70344113 | A > G | MED12 |
NM_005120.2:c.1849A>G |
NP_005111.2:p.Thr617Ala |
5/14969 | 0.0002 | 1 | Uncertain Significance | |

View | X | 70356302 | 70356302 | C > T | MED12 |
NM_005120.2:c.5197C>T |
NP_005111.2:p.Arg1733Trp |
2/14969 | 7.0e-05 | 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 |
3/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | X | 70612819 | 70612819 | G > A | TAF1 TAF1 |
NM_004606.3:c.3086G>A NM_138923.2:c.3023G>A |
NP_004597.2:p.Arg1029His NP_620278.1:p.Arg1008His |
2/13144 | 8.0e-05 | 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 |
2/13144 | 8.0e-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 |
3/13771 | 0.00015 | 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 |
1/14969 | 7.0e-05 | 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 |
4/14969 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 76938884 | 76938884 | G > C | ATRX ATRX |
NM_138270.2:c.1750C>G NM_000489.3:c.1864C>G |
NP_612114.1:p.Pro584Ala NP_000480.2:p.Pro622Ala |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 76972631 | 76972631 | C > T | ATRX ATRX |
NM_138270.2:c.110G>A NM_000489.3:c.110G>A |
NP_612114.1:p.Arg37Gln NP_000480.2:p.Arg37Gln |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 77225058 | 77225058 | G > C | ATP7A PGAM4 |
NM_000052.5:c.-21-2060G>C NM_001029891.2:c.78C>G |
NP_001025062.1:p.Tyr26Ter |
2/14930 | 0.0001 | 3 | premature_stop | 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 |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 99921870 | 99921870 | A > T | SRPX2 |
NM_014467.2:c.901A>T |
NP_055282.1:p.Thr301Ser |
4/13144 | 0.00023 | 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 |
2/14969 | 0.0001 | 3 | curation | 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 |
12/13144 | 0.00061 | 3 | non_synonymous | Uncertain Significance |

View | X | 110654133 | 110654133 | T > G | DCX DCX DCX DCX DCX |
NM_000555.3:c.70A>C NM_001195553.1:c.-22-485A>C NM_178153.2:c.-22-485A>C NM_178152.2:c.-22-485A>C NM_178151.2:c.-22-485A>C |
NP_000546.2:p.Thr24Pro |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 118716536 | 118716536 | C > G | UBE2A UBE2A UBE2A |
NM_181762.1:c.152-15C>G NM_003336.2:c.242-15C>G NM_181777.1:c.17-15C>G |
1/13771 | 4.0e-05 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | X | 122755089 | 122755089 | C > A | THOC2 |
NM_001081550.1:c.4135G>T |
NP_001075019.1:p.Val1379Phe |
5/13144 | 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 |
6/14969 | 0.0003 | 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 |
1/13144 | 4.0e-05 | 1 | 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 |
6/13144 | 0.00027 | 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 |
1/11983 | 4.0e-05 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | X | 132887803 | 132887803 | C > A | GPC3 GPC3 GPC3 GPC3 |
NM_004484.3:c.738G>T NM_001164618.1:c.690G>T NM_001164619.1:c.576G>T NM_001164617.1:c.738G>T |
NP_004475.1:p.Leu246= NP_001158090.1:p.Leu230= NP_001158091.1:p.Leu192= NP_001158089.1:p.Leu246= |
1/14969 | 3.0e-05 | 3 | synonymous | Uncertain Significance |

View | X | 132887804 | 132887804 | A > G | GPC3 GPC3 GPC3 GPC3 |
NM_004484.3:c.737T>C NM_001164618.1:c.689T>C NM_001164619.1:c.575T>C NM_001164617.1:c.737T>C |
NP_004475.1:p.Leu246Pro NP_001158090.1:p.Leu230Pro NP_001158091.1:p.Leu192Pro NP_001158089.1:p.Leu246Pro |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 135067741 | 135067741 | C > A | SLC9A6 SLC9A6 SLC9A6 |
NM_001177651.1:c.-56-21C>A NM_001042537.1:c.80C>A NM_006359.2:c.80C>A |
NP_001036002.1:p.Pro27His NP_006350.1:p.Pro27His |
2/14969 | 0.0001 | 3 | non_synonymous | 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 |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 148039966 | 148039966 | C > T | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.2569C>T NM_001169124.1:c.2563C>T NM_001169123.1:c.2638C>T NM_001170628.1:c.1591C>T NM_001169125.1:c.2551C>T NM_002025.3:c.2668C>T |
NP_001162593.1:p.His857Tyr NP_001162595.1:p.His855Tyr NP_001162594.1:p.His880Tyr NP_001164099.1:p.His531Tyr NP_001162596.1:p.His851Tyr NP_002016.2:p.His890Tyr |
1/14969 | 7.0e-05 | 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 |
40/13810 | 0.00145 | 3 | five_prime_flank | Uncertain Significance | |

View | X | 152960291 | 152960291 | G > A | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1714G>A NM_001142805.1:c.1684G>A NM_001142806.1:c.1369G>A |
NP_005620.1:p.Val572Met NP_001136277.1:p.Val562Met NP_001136278.1:p.Val457Met |
6/14969 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | X | 153128185 | 153128185 | T > G | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.3680A>C NM_001278116.1:c.3707A>C NM_000425.4:c.3707A>C NM_024003.3:c.3695A>C |
NP_001137435.1:p.Glu1227Ala NP_001265045.1:p.Glu1236Ala NP_000416.1:p.Glu1236Ala NP_076493.1:p.Glu1232Ala |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 153132176 | 153132176 | T > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.2344A>G NM_001278116.1:c.2359A>G NM_000425.4:c.2359A>G NM_024003.3:c.2359A>G |
NP_001137435.1:p.Lys782Glu NP_001265045.1:p.Lys787Glu NP_000416.1:p.Lys787Glu NP_076493.1:p.Lys787Glu |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 153217045 | 153217045 | C > A | HCFC1 |
NM_005334.2:c.5374G>T |
NP_005325.2:p.Gly1792Cys |
2/13144 | 8.0e-05 | 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 |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 153578549 | 153578549 | G > A | FLNA FLNA |
NM_001456.3:c.7159C>T NM_001110556.1:c.7183C>T |
NP_001447.2:p.Arg2387Trp NP_001104026.1:p.Arg2395Trp |
2/13144 | 0.00011 | 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 |
4/13144 | 0.00023 | 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 |
4/13144 | 0.00023 | 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 |
2/13810 | 0.00011 | 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 |
1/14969 | 3.0e-05 | 3 | curation | Uncertain Significance |

View | X | 153667183 | 153667183 | C > G | GDI1 |
NM_001493.2:c.226C>G |
NP_001484.1:p.Leu76Val |
5/14969 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | X | 153669970 | 153669970 | G > A | GDI1 |
NM_001493.2:c.820G>A |
NP_001484.1:p.Val274Met |
2/14969 | 0.0001 | 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 |
618/15597 | 0.0285 | 3 | curation | 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 |
2/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |