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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 | 41075904 | 41075904 | C > T | USP9X |
NM_001039591.2:c.6084C>T NM_001039590.2:c.6084C>T |
NM_001039591.2:c.6084C>T(p.%3D) NM_001039590.2:c.6084C>T(p.%3D) |
15/5119 | 0.00156 | 4 | five_prime_exonic | Likely Benign |

View | X | 41393979 | 41393979 | C > T | CASK |
NM_001126054.2:c.2213G>A NM_001126055.2:c.2210G>A NM_003688.3:c.2282G>A |
NP_001119526.1:p.Arg738Gln NP_001119527.1:p.Arg737Gln NP_003679.2:p.Arg761Gln |
6/6913 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 41555770 | 41555770 | A > G | CASK GPR34 |
NM_001126054.2:c.430-24987T>C NM_001126055.2:c.430-24987T>C NM_003688.3:c.430-24987T>C NM_001097579.1:c.884A>G NM_005300.3:c.884A>G |
NP_001091048.1:p.Asn295Ser NP_005291.1:p.Asn295Ser |
19/6895 | 0.00174 | 4 | non_synonymous | Likely Benign |

View | X | 41586833 | 41586833 | G > A | GPR82 CASK |
NM_080817.4:c.554G>A NM_001126054.2:c.429+11804C>T NM_001126055.2:c.429+11804C>T NM_003688.3:c.429+11804C>T |
NP_543007.1:p.Ser185Asn |
7/6895 | 0.0008 | 4 | non_synonymous | Likely Benign |

View | X | 41586957 | 41586957 | C > A | GPR82 CASK |
NM_080817.4:c.678C>A NM_001126054.2:c.429+11680G>T NM_001126055.2:c.429+11680G>T NM_003688.3:c.429+11680G>T |
NP_543007.1:p.Ser226Arg |
1/6895 | 0.00015 | 4 | non_synonymous | Likely Benign |

View | X | 44922890 | 44922890 | C > T | KDM6A |
NM_021140.2:c.1751C>T |
NP_066963.2:p.Thr584Met |
9/5119 | 0.00107 | 4 | non_synonymous | Likely Benign |

View | X | 47003927 | 47003927 | G > T | NDUFB11 |
NM_001135998.2:c.152C>A NM_019056.6:c.152C>A |
NP_001129470.1:p.Pro51Gln NP_061929.2:p.Pro51Gln |
2/5119 | 0.0002 | 4 | non_synonymous | Likely Benign |

View | X | 47028909 | 47028909 | G > A | RBM10 |
NM_001204468.1:c.396+12G>A NM_001204467.1:c.201+12G>A NM_005676.4:c.201+12G>A NM_152856.2:c.201+12G>A NM_001204466.1:c.201+12G>A |
4/5101 | 0.00059 | 4 | five_prime_intronic | Likely Benign | |

View | X | 47028917 | 47028917 | C > T | RBM10 |
NM_001204468.1:c.396+20C>T NM_005676.4:c.201+20C>T NM_001204467.1:c.201+20C>T NM_152856.2:c.201+20C>T NM_001204466.1:c.201+20C>T |
8/5101 | 0.00108 | 4 | five_prime_intronic | Likely Benign | |

View | X | 47774515 | 47774515 | A > G | ZNF81 |
NM_007137.3:c.470A>G |
NP_009068.2:p.Asn157Ser |
76/5119 | 0.01006 | 4 | non_synonymous | Likely Benign |

View | X | 47775540 | 47775540 | A > G | ZNF81 |
NM_007137.3:c.1495A>G |
NP_009068.2:p.Ile499Val |
40/5125 | 0.00517 | 4 | non_synonymous | Likely Benign |

View | X | 48337450 | 48337450 | C > G | FTSJ1 |
NM_177434.1:c.307C>G NM_177439.1:c.307C>G NM_012280.2:c.307C>G |
NP_803183.1:p.Gln103Glu NP_803188.1:p.Gln103Glu NP_036412.1:p.Gln103Glu |
22/6913 | 0.0021 | 4 | non_synonymous | Likely Benign |

View | X | 48340785 | 48340785 | C > G | FTSJ1 |
NM_177434.1:c.656-12C>G NM_177439.1:c.656-12C>G NM_012280.2:c.656-6C>G |
6/6913 | 0.00065 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 48544153 | 48544153 | G > A | WAS |
NM_000377.2:c.391G>A |
NP_000368.1:p.Glu131Lys |
28/6913 | 0.00282 | 4 | Likely Benign | |

View | X | 48544502 | 48544502 | C > A | WAS |
NM_000377.2:c.538C>A |
NP_000368.1:p.His180Asn |
22/6913 | 0.00224 | 4 | Likely Benign | |

View | X | 48682140 | 48682140 | G > A | HDAC6 |
NM_006044.2:c.3248G>A |
NP_006035.2:p.Gly1083Asp |
27/5119 | 0.00361 | 4 | non_synonymous | Likely Benign |

View | X | 49071722 | 49071722 | G > A | CACNA1F |
NM_005183.2:c.3472-18C>T NM_001256789.1:c.3439-18C>T NM_001256790.1:c.3277-18C>T |
25/5101 | 0.00333 | 4 | three_prime_flank | Likely Benign | |

View | X | 49104709 | 49104709 | C > T | CCDC22 |
NM_014008.3:c.1150C>T |
NP_054727.1:p.Arg384Cys |
40/5119 | 0.00498 | 4 | non_synonymous | Likely Benign |

View | X | 49105970 | 49105970 | G > A | CCDC22 |
NM_014008.3:c.1636G>A |
NP_054727.1:p.Asp546Asn |
37/5119 | 0.00488 | 4 | non_synonymous | Likely Benign |

View | X | 49113312 | 49113312 | G > A | FOXP3 |
NM_014009.3:c.543C>T NM_001114377.1:c.438C>T |
NM_014009.3:c.543C>T(p.%3D) NM_001114377.1:c.438C>T(p.%3D) |
369/6913 | 0.03551 | 3 | Likely Benign | |

View | X | 50341412 | 50341412 | C > T | SHROOM4 |
NM_020717.3:c.4066G>A NR_027121.1:n.4092G>A |
NP_065768.2:p.Val1356Ile |
26/6913 | 0.00246 | 4 | non_synonymous | Likely Benign |

View | X | 50378637 | 50378637 | G > A | SHROOM4 |
NM_020717.3:c.436C>T NR_027121.1:n.462C>T |
NP_065768.2:p.Arg146Trp |
4/6913 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 53566753 | 53566753 | C > G | HUWE1 |
NM_031407.5:c.11497G>C |
NP_113584.3:p.Gly3833Arg |
2/6913 | 0.00022 | 4 | non_synonymous | Likely Benign |

View | X | 54496615 | 54496615 | G > A | FGD1 |
NM_004463.2:c.935C>T |
NP_004454.2:p.Pro312Leu |
1/6913 | 0.00014 | 4 | ClinVar pathogenic variant | Likely Benign |

View | X | 54496874 | 54496874 | C > T | FGD1 |
NM_004463.2:c.676G>A |
NP_004454.2:p.Ala226Thr |
33/6913 | 0.00318 | 4 | non_synonymous | Likely Benign |

View | X | 54497833 | 54497833 | C > T | FGD1 |
NM_004463.2:c.395G>A |
NP_004454.2:p.Arg132Gln |
14/6913 | 0.0013 | 4 | non_synonymous | Likely Benign |

View | X | 63410516 | 63410516 | G > A | AMER1 |
NM_152424.3:c.2651C>T |
NP_689637.3:p.Pro884Leu |
10/5119 | 0.00137 | 4 | non_synonymous | Likely Benign |

View | X | 63412335 | 63412335 | C > A | AMER1 |
NM_152424.3:c.832G>T |
NP_689637.3:p.Ala278Ser |
6/5119 | 0.00088 | 4 | non_synonymous | Likely Benign |

View | X | 64139942 | 64139942 | C > A | ZC4H2 |
NM_001178033.2:c.398+19G>T NM_001178032.2:c.329+19G>T NM_018684.3:c.398+19G>T NM_001243804.1:c.329+19G>T NR_045044.1:n.809+19G>T |
57/5101 | 0.00735 | 4 | five_prime_intronic | Likely Benign | |

View | X | 66765162 | 66765170 | GCAGCAGCA > - | AR |
NM_000044.3:c.231_239del |
NP_000035.2:p.Gln78_Gln80del |
186/6913 | 0.01418 | 4 | Likely Benign | |

View | X | 67283775 | 67283775 | C > T | OPHN1 |
NM_002547.2:c.2079G>A |
NP_002538.1:p.Met693Ile |
15/6913 | 0.00159 | 4 | non_synonymous | Likely Benign |

View | X | 67283825 | 67283825 | G > T | OPHN1 |
NM_002547.2:c.2029C>A |
NP_002538.1:p.Leu677Met |
20/6913 | 0.00203 | 4 | non_synonymous | Likely Benign |

View | X | 67652730 | 67652730 | C > T | OPHN1 |
NM_002547.2:c.133G>A |
NP_002538.1:p.Ala45Thr |
12/6913 | 0.00123 | 4 | non_synonymous | Likely Benign |

View | X | 69674169 | 69674171 | AGG > - | DLG3 |
NM_021120.3:c.1405+5_1405+7del NM_020730.2:c.394+5_394+7del |
1/6913 | 0.00014 | 4 | five_prime_flank | Likely Benign | |

View | X | 70342211 | 70342211 | T > C | MED12 |
NM_005120.2:c.1248+15T>C |
54/6895 | 0.00471 | 4 | five_prime_intronic | Likely Benign | |

View | X | 70350026 | 70350026 | G > A | MED12 |
NM_005120.2:c.4009G>A |
NP_005111.2:p.Glu1337Lys |
2/6913 | 0.00022 | 4 | non_synonymous | Likely Benign |

View | X | 70352041 | 70352041 | C > A | MED12 |
NM_005120.2:c.4238C>A |
NP_005111.2:p.Thr1413Asn |
2/6913 | 0.00022 | 4 | non_synonymous | Likely Benign |

View | X | 70357196 | 70357196 | C > T | MED12 |
NM_005120.2:c.5711C>T |
NP_005111.2:p.Ala1904Val |
17/6913 | 0.00166 | 4 | non_synonymous | Likely Benign |

View | X | 70361115 | 70361116 | - > CAGCAA | MED12 |
NM_005120.2:c.6315_6320dupACAGCA |
NP_005111.2:p.Gln2114_Gln2115dup |
1/6913 | 7.0e-05 | 4 | in_frame_indel | Likely Benign |

View | X | 70597567 | 70597568 | - > AGG | TAF1 |
NM_004606.3:c.893_895dupAGG NM_138923.2:c.830_832dupAGG |
NP_004597.2:p.Glu298dup NP_620278.1:p.Glu277dup |
14/5119 | 0.00186 | 4 | in_frame_indel | Likely Benign |

View | X | 73641884 | 73641884 | C > G | SLC16A2 |
NM_006517.4:c.412C>G |
NP_006508.2:p.Gln138Glu |
4/6913 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 73815846 | 73815847 | AA > - | RLIM |
NM_016120.3:c.-23-12_-23-11del NM_183353.2:c.-23-12_-23-11del |
5/5101 | 0.00069 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 73964241 | 73964241 | G > T | KIAA2022 |
NM_001008537.2:c.151C>A |
NP_001008537.1:p.Pro51Thr |
9/5119 | 0.00107 | 4 | non_synonymous | Likely Benign |

View | X | 74651346 | 74651346 | A > T | ZDHHC15 |
NM_144969.2:c.389T>A NM_001146256.1:c.362T>A |
NP_659406.1:p.Phe130Tyr NP_001139728.1:p.Phe121Tyr |
23/5119 | 0.00283 | 4 | non_synonymous | Likely Benign |

View | X | 79999575 | 79999575 | C > T | BRWD3 |
ENST00000373275.4:c.769G>A |
ENSP00000362372.4:p.Val257Ile |
3/6913 | 0.00022 | 4 | non_synonymous | Likely Benign |

View | X | 99551403 | 99551403 | G > C | PCDH19 |
NM_001184880.1:c.3319C>G NM_020766.2:c.3175C>G NM_001105243.1:c.3178C>G |
NP_001171809.1:p.Arg1107Gly NP_065817.2:p.Arg1059Gly NP_001098713.1:p.Arg1060Gly |
20/6913 | 0.00181 | 4 | non_synonymous | Likely Benign |

View | X | 99661978 | 99661978 | G > A | PCDH19 |
NM_001184880.1:c.1618C>T NM_020766.2:c.1618C>T NM_001105243.1:c.1618C>T |
NP_001171809.1:p.Leu540Phe NP_065817.2:p.Leu540Phe NP_001098713.1:p.Leu540Phe |
1/6913 | 7.0e-05 | 4 | non_synonymous | Likely Benign |

View | X | 99919875 | 99919875 | C > G | SRPX2 |
NM_014467.2:c.460C>G |
NP_055282.1:p.His154Asp |
9/5119 | 0.00147 | 4 | non_synonymous | Likely Benign |

View | X | 100653420 | 100653420 | C > A | GLA RPL36A-HNRNPH2 |
NM_000169.2:c.937G>T NM_001199973.1:c.408+2975C>A NM_001199974.1:c.285+6610C>A |
NP_000160.1:p.Asp313Tyr |
39/6913 | 0.00347 | 3 | Likely Benign | |

View | X | 107084632 | 107084632 | G > A | MID2 |
NM_012216.3:c.720+17G>A NM_052817.2:c.720+17G>A |
2/5101 | 0.00029 | 4 | five_prime_intronic | Likely Benign |