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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 | 107159224 | 107159224 | T > - | MID2 MID2 |
NM_012216.3:c.1074-4del NM_052817.2:c.1074-4del |
12/5119 | 0.00147 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 107869481 | 107869481 | C > T | COL4A5 COL4A5 |
NM_000495.4:c.3148C>T NM_033380.2:c.3148C>T |
NP_000486.1:p.Pro1050Ser NP_203699.1:p.Pro1050Ser |
4/6913 | 0.00036 | 4 | non_synonymous | Likely Benign |

View | X | 108908714 | 108908714 | T > C | ACSL4 ACSL4 |
NM_004458.2:c.1325A>G NM_022977.2:c.1448A>G |
NP_004449.1:p.Tyr442Cys NP_075266.1:p.Tyr483Cys |
8/6913 | 0.00087 | 4 | non_synonymous | Likely Benign |

View | X | 122805622 | 122805623 | - > A | THOC2 |
NM_001081550.1:c.769-11dupT |
37/5120 | 0.0042 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 122846681 | 122846681 | A > T | THOC2 |
NM_001081550.1:c.130+19T>A |
7/5101 | 0.00078 | 4 | five_prime_intronic | Likely Benign | |

View | X | 128674722 | 128674722 | C > T | OCRL OCRL |
NM_001587.3:c.41C>T NM_000276.3:c.41C>T |
NP_001578.2:p.Thr14Ile NP_000267.2:p.Thr14Ile |
68/6913 | 0.00673 | 4 | non_synonymous | Likely Benign |

View | X | 132826404 | 132826404 | C > T | GPC3 GPC3 GPC3 GPC3 |
NM_001164618.1:c.1237G>A NM_001164617.1:c.1354G>A NM_004484.3:c.1285G>A NM_001164619.1:c.1123G>A |
NP_001158090.1:p.Val413Met NP_001158089.1:p.Val452Met NP_004475.1:p.Val429Met NP_001158091.1:p.Val375Met |
60/6913 | 0.00564 | 4 | non_synonymous | Likely Benign |

View | X | 132887715 | 132887715 | C > T | GPC3 GPC3 GPC3 GPC3 |
NM_001164618.1:c.778G>A NM_001164617.1:c.826G>A NM_004484.3:c.826G>A NM_001164619.1:c.664G>A |
NP_001158090.1:p.Gly260Ser NP_001158089.1:p.Gly276Ser NP_004475.1:p.Gly276Ser NP_001158091.1:p.Gly222Ser |
2/6913 | 0.00022 | 4 | non_synonymous | Likely Benign |

View | X | 135115628 | 135115628 | G > A | SLC9A6 SLC9A6 SLC9A6 |
NM_001177651.1:c.1547G>A NM_001042537.1:c.1703G>A NM_006359.2:c.1607G>A |
NP_001171122.1:p.Arg516Gln NP_001036002.1:p.Arg568Gln NP_006350.1:p.Arg536Gln |
19/6913 | 0.00181 | 4 | non_synonymous | Likely Benign |

View | X | 135790866 | 135790866 | C > A | ARHGEF6 |
NM_004840.2:c.891G>T |
NP_004831.1:p.Gln297His |
20/6913 | 0.00195 | 4 | non_synonymous | Likely Benign |

View | X | 135829660 | 135829660 | G > A | ARHGEF6 |
NM_004840.2:c.334+7C>T |
14/6913 | 0.0013 | 4 | five_prime_intronic | Likely Benign | |

View | X | 136112910 | 136112910 | C > T | GPR101 |
NM_054021.1:c.924G>A |
NM_054021.1:c.924G>A(p.=) |
18/5119 | 0.00254 | 4 | Likely Benign | |

View | X | 136113122 | 136113122 | C > T | GPR101 |
NM_054021.1:c.712G>A |
NP_473362.1:p.Val238Ile |
30/5119 | 0.00381 | 4 | non_synonymous | Likely Benign |

View | X | 136649499 | 136649499 | C > G | ZIC3 |
NM_003413.3:c.649C>G |
NP_003404.1:p.Pro217Ala |
18/6913 | 0.00181 | 4 | Likely Benign | |

View | X | 152014893 | 152014893 | A > G | NSDHL NSDHL |
NM_001129765.1:c.25A>G NM_015922.2:c.25A>G |
NP_001123237.1:p.Met9Val NP_057006.1:p.Met9Val |
20/5119 | 0.00264 | 4 | non_synonymous | Likely Benign |

View | X | 152853901 | 152853901 | G > A | FAM58A FAM58A |
NM_152274.4:c.667C>T NM_001130997.2:c.656-49C>T |
NP_689487.2:p.Arg223Ter |
4/5119 | 0.00049 | 4 | premature_stop | Likely Benign |

View | X | 152959059 | 152959059 | G > A | SLC6A8 SLC6A8 SLC6A8 |
NM_001142805.1:c.1111+18G>A NM_001142806.1:c.796+18G>A NM_005629.3:c.1141+18G>A |
33/6895 | 0.00341 | 4 | five_prime_intronic | Likely Benign | |

View | X | 152991478 | 152991478 | C > G | ABCD1 |
NM_000033.3:c.757C>G |
NP_000024.2:p.Leu253Val |
12/6913 | 0.00094 | 4 | Likely Benign | |

View | X | 153129490 | 153129491 | - > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.3308-19dupG NM_000425.4:c.3323-19dupG NM_001278116.1:c.3323-19dupG NM_024003.3:c.3323-19dupG |
9/6895 | 0.00087 | 4 | three_prime_flank | Likely Benign | |

View | X | 153171700 | 153171700 | G > A | AVPR2 AVPR2 AVPR2 |
NR_027419.1:n.787G>A NM_000054.4:c.740G>A NM_001146151.1:c.740G>A |
NP_000045.1:p.Arg247His NP_001139623.1:p.Arg247His |
5/5119 | 0.00078 | 4 | non_synonymous | Likely Benign |

View | X | 153219691 | 153219691 | C > T | HCFC1 |
NM_005334.2:c.4159G>A |
NP_005325.2:p.Val1387Met |
9/5119 | 0.00117 | 4 | non_synonymous | Likely Benign |

View | X | 153220876 | 153220876 | C > T | HCFC1 |
NM_005334.2:c.2974G>A |
NP_005325.2:p.Ala992Thr |
6/5119 | 0.00078 | 4 | non_synonymous | Likely Benign |

View | X | 153296090 | 153296090 | C > T | MECP2 MECP2 |
NM_001110792.1:c.1225G>A NM_004992.3:c.1189G>A |
NP_001104262.1:p.Glu409Lys NP_004983.1:p.Glu397Lys |
34/6913 | 0.00362 | 4 | Likely Benign | |

View | X | 153296119 | 153296119 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1196C>T NM_004992.3:c.1160C>T |
NP_001104262.1:p.Pro399Leu NP_004983.1:p.Pro387Leu |
6/6913 | 0.00072 | 4 | non_synonymous | Likely Benign |

View | X | 153296689 | 153296689 | G > A | MECP2 MECP2 |
NM_001110792.1:c.626C>T NM_004992.3:c.590C>T |
NP_001104262.1:p.Thr209Met NP_004983.1:p.Thr197Met |
6/6913 | 0.00065 | 4 | Likely Benign | |

View | X | 153296918 | 153296918 | A > - | MECP2 MECP2 |
NM_004992.3:c.378-17del NM_001110792.1:c.414-17del |
84/6895 | 0.00812 | 4 | three_prime_flank | Likely Benign | |

View | X | 153578465 | 153578465 | G > A | FLNA FLNA |
NM_001110556.1:c.7267C>T NM_001456.3:c.7243C>T |
NP_001104026.1:p.Pro2423Ser NP_001447.2:p.Pro2415Ser |
4/5119 | 0.00059 | 4 | non_synonymous | Likely Benign |

View | X | 153581582 | 153581582 | G > C | FLNA FLNA |
NM_001456.3:c.5999-10C>G NM_001110556.1:c.6023-10C>G |
4/5119 | 0.00059 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 153581714 | 153581714 | G > A | FLNA FLNA |
NM_001110556.1:c.5972C>T NM_001456.3:c.5948C>T |
NP_001104026.1:p.Ser1991Leu NP_001447.2:p.Ser1983Leu |
23/5120 | 0.00303 | 4 | non_synonymous | Likely Benign |

View | X | 153590902 | 153590902 | G > A | FLNA FLNA |
NM_001110556.1:c.2449C>T NM_001456.3:c.2449C>T |
NP_001104026.1:p.Pro817Ser NP_001447.2:p.Pro817Ser |
10/5119 | 0.00137 | 4 | non_synonymous | Likely Benign |

View | X | 153593204 | 153593204 | C > T | FLNA FLNA |
NM_001110556.1:c.1813G>A NM_001456.3:c.1813G>A |
NP_001104026.1:p.Asp605Asn NP_001447.2:p.Asp605Asn |
5/5119 | 0.00068 | 4 | non_synonymous | Likely Benign |

View | X | 153593616 | 153593616 | G > A | FLNA FLNA |
NM_001110556.1:c.1579C>T NM_001456.3:c.1579C>T |
NP_001104026.1:p.Arg527Cys NP_001447.2:p.Arg527Cys |
5/5119 | 0.00068 | 4 | non_synonymous | Likely Benign |

View | X | 153593845 | 153593845 | G > A | FLNA FLNA |
NM_001110556.1:c.1439C>T NM_001456.3:c.1439C>T |
NP_001104026.1:p.Pro480Leu NP_001447.2:p.Pro480Leu |
3/5119 | 0.00039 | 4 | non_synonymous | Likely Benign |

View | X | 153666858 | 153666858 | C > A | GDI1 |
NM_001493.2:c.46-11C>A |
7/6895 | 0.00065 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 153991099 | 153991099 | C > G | DKC1 DKC1 |
NM_001142463.1:c.-142C>G NM_001363.3:c.-142C>G |
25/6895 | 0.00276 | 4 | Likely Benign | ||

View | X | 154508542 | 154508542 | G > C | CLIC2 |
NM_001289.4:c.478C>G |
NP_001280.3:p.Pro160Ala |
13/5119 | 0.00186 | 4 | non_synonymous | Likely Benign |

View | X | 154563670 | 154563670 | G > A | CLIC2 |
NM_001289.4:c.57+10C>T |
30/5119 | 0.0043 | 4 | five_prime_intronic | Likely Benign |