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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 | 76856021 | 76856021 | T > C | ATRX ATRX |
NM_138270.2:c.5465A>G NM_000489.3:c.5579A>G |
NP_612114.1:p.Asn1822Ser NP_000480.2:p.Asn1860Ser |
91/8745 | 0.00675 | 5 | ClinVar pathogenic variant | Benign |

View | X | 76938153 | 76938153 | G > C | ATRX ATRX |
NM_138270.2:c.2481C>G NM_000489.3:c.2595C>G |
NP_612114.1:p.His827Gln NP_000480.2:p.His865Gln |
93/8745 | 0.00715 | 5 | non_synonymous | Benign |

View | X | 77224487 | 77224487 | C > T | ATP7A PGAM4 |
NM_000052.5:c.-21-2631C>T NM_001029891.2:c.649G>A |
NP_001025062.1:p.Val217Ile |
2/8706 | 0.00017 | 3 | non_synonymous | Benign |

View | X | 77301954 | 77301954 | A > G | ATP7A |
NM_000052.5:c.4390A>G |
NP_000043.3:p.Ile1464Val |
8/8954 | 0.00067 | 5 | non_synonymous | Benign |

View | X | 100630121 | 100630121 | G > A | BTK |
NM_000061.2:c.141+11C>T |
93/8709 | 0.00712 | 5 | Benign | ||

View | X | 100662901 | 100662901 | G > A | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.-10C>T NM_001199973.1:c.409-4023G>A NM_001199974.1:c.286-4023G>A |
923/8745 | 0.07318 | 5 | ClinVar Benign variant | Benign | |

View | X | 100663660 | 100663660 | C > G | HNRNPH2 RPL36A-HNRNPH2 RPL36A-HNRNPH2 HNRNPH2 |
NM_001032393.2:c.-54+365C>G NM_001199973.1:c.409-3264C>G NM_001199974.1:c.286-3264C>G NM_019597.4:c.-54+353C>G |
64/6916 | 0.0068 | 5 | Benign | ||

View | X | 107834411 | 107834411 | C > A | COL4A5 COL4A5 |
NM_000495.4:c.1289C>A NM_033380.2:c.1289C>A |
NP_000486.1:p.Ala430Asp NP_203699.1:p.Ala430Asp |
54/8745 | 0.00395 | 5 | non_synonymous | Benign |

View | X | 108924380 | 108924381 | - > A | ACSL4 ACSL4 |
NM_022977.2:c.640-16dupT NM_004458.2:c.517-16dupT |
116/8707 | 0.0081 | 5 | three_prime_flank | Benign | |

View | X | 110980029 | 110980029 | G > C | ALG13 ALG13 ALG13 ALG13 ALG13 |
NM_001257231.1:c.2383G>C NM_001257234.1:c.2305G>C NM_001257237.1:c.2305G>C NM_001099922.2:c.2617G>C NM_001257230.1:c.2305G>C |
NP_001244160.1:p.Ala795Pro NP_001244163.1:p.Ala769Pro NP_001244166.1:p.Ala769Pro NP_001093392.1:p.Ala873Pro NP_001244159.1:p.Ala769Pro |
5/6955 | 0.0005 | 5 | non_synonymous | Benign |

View | X | 119005968 | 119005968 | G > C | NDUFA1 |
NM_004541.3:c.94G>C |
NP_004532.1:p.Gly32Arg |
73/8745 | 0.00497 | 5 | ClinVar pathogenic variant | Benign |

View | X | 119573071 | 119573071 | C > T | LAMP2 LAMP2 LAMP2 |
NM_001122606.1:c.1093+2514G>A NM_002294.2:c.1093+2514G>A NM_013995.2:c.1171G>A |
NP_054701.1:p.Val391Ile |
71/6955 | 0.00654 | 5 | Benign | |

View | X | 122551245 | 122551245 | T > A | GRIA3 GRIA3 |
ENST00000371256.5:c.1501-8T>A ENST00000264357.5:c.1501-8T>A |
99/6955 | 0.0092 | 5 | polypyrimidine_tract | Benign | |

View | X | 123480540 | 123480540 | C > T | SH2D1A SH2D1A |
NM_001114937.2:c.48C>T NM_002351.4:c.48C>T |
NP_001108409.1:p.Gly16= NP_002342.1:p.Gly16= |
33/8745 | 0.00246 | 5 | Benign | |

View | X | 130409697 | 130409697 | A > G | IGSF1 IGSF1 |
ENST00000370910.1:c.2912T>C ENST00000370903.3:c.2954T>C |
ENSP00000359947.1:p.Val971Ala ENSP00000359940.3:p.Val985Ala |
59/6955 | 0.00568 | 5 | Benign | |

View | X | 135067686 | 135067686 | G > T | SLC9A6 SLC9A6 SLC9A6 |
NM_001177651.1:c.-57+50G>T NM_001042537.1:c.25G>T NM_006359.2:c.25G>T |
NP_001036002.1:p.Ala9Ser NP_006350.1:p.Ala9Ser |
41/8745 | 0.00292 | 5 | non_synonymous | Benign |

View | X | 136648899 | 136648899 | G > T | ZIC3 |
NM_003413.3:c.49G>T |
NP_003404.1:p.Gly17Cys |
25/8745 | 0.00177 | 5 | Benign | |

View | X | 139586919 | 139586919 | G > T | SOX3 |
NM_005634.2:c.307C>A |
NP_005625.2:p.Pro103Thr |
61/8745 | 0.00457 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 139587099 | 139587099 | C > T | SOX3 |
NM_005634.2:c.127G>A |
NP_005625.2:p.Ala43Thr |
91/8745 | 0.00709 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 139587212 | 139587212 | C > T | SOX3 |
NM_005634.2:c.14G>A |
NP_005625.2:p.Arg5Gln |
27/8745 | 0.00189 | 5 | non_synonymous | Benign |

View | X | 147919205 | 147919205 | C > A | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.1075-5285C>A NM_001169124.1:c.1087-5285C>A NM_001169123.1:c.1109C>A NM_001170628.1:c.97-5285C>A NM_001169125.1:c.1075-5285C>A NM_002025.3:c.1121C>A |
NP_001162594.1:p.Ser370Tyr NP_002016.2:p.Ser374Tyr |
5/8745 | 0.00034 | 5 | non_synonymous | Benign |

View | X | 152954025 | 152954025 | A > G | SLC6A8 SLC6A8 |
NM_005629.3:c.-5A>G NM_001142805.1:c.-5A>G |
5843/8745 | 0.66484 | 5 | ClinVar Benign variant | Benign | |

View | X | 152959900 | 152959900 | C > T | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1494C>T NM_001142805.1:c.1464C>T NM_001142806.1:c.1149C>T |
NP_005620.1:p.Tyr498= NP_001136277.1:p.Tyr488= NP_001136278.1:p.Tyr383= |
47/8745 | 0.00343 | 5 | five_prime_exonic | Benign |

View | X | 152959980 | 152959980 | C > T | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1496-8C>T NM_001142805.1:c.1466-8C>T NM_001142806.1:c.1151-8C>T |
14/8745 | 0.00091 | 5 | Benign | ||

View | X | 152969508 | 152969508 | G > A | BCAP31 BCAP31 BCAP31 BCAP31 |
NM_001256447.1:c.383C>T NM_005745.7:c.383C>T NM_001139441.1:c.383C>T NM_001139457.2:c.584C>T |
NP_001243376.1:p.Thr128Met NP_005736.3:p.Thr128Met NP_001132913.1:p.Thr128Met NP_001132929.1:p.Thr195Met |
26/6955 | 0.00259 | 5 | non_synonymous | Benign |

View | X | 153130543 | 153130543 | G > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.2857C>G NM_001278116.1:c.2872C>G NM_000425.4:c.2872C>G NM_024003.3:c.2872C>G |
NP_001137435.1:p.Leu953Val NP_001265045.1:p.Leu958Val NP_000416.1:p.Leu958Val NP_076493.1:p.Leu958Val |
23/8745 | 0.00172 | 5 | non_synonymous | Benign |

View | X | 153132233 | 153132233 | C > T | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.2287G>A NM_001278116.1:c.2302G>A NM_000425.4:c.2302G>A NM_024003.3:c.2302G>A |
NP_001137435.1:p.Val763Ile NP_001265045.1:p.Val768Ile NP_000416.1:p.Val768Ile NP_076493.1:p.Val768Ile |
44/8745 | 0.00332 | 5 | Benign | |

View | X | 153141264 | 153141264 | G > A | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.28C>T NM_001278116.1:c.28C>T NM_000425.4:c.28C>T NM_024003.3:c.28C>T |
NP_001137435.1:p.Pro10Ser NP_001265045.1:p.Pro10Ser NP_000416.1:p.Pro10Ser NP_076493.1:p.Pro10Ser |
32/8745 | 0.00246 | 5 | non_synonymous | Benign |

View | X | 153216900 | 153216900 | C > T | HCFC1 |
NM_005334.2:c.5418G>A |
NP_005325.2:p.Met1806Ile |
14/6955 | 0.00122 | 5 | non_synonymous | Benign |

View | X | 153220056 | 153220056 | G > A | HCFC1 |
NM_005334.2:c.3794C>T |
NP_005325.2:p.Ser1265Leu |
8/6955 | 0.00065 | 3 | non_synonymous | Benign |

View | X | 153220282 | 153220282 | C > T | HCFC1 |
NM_005334.2:c.3568G>A |
NP_005325.2:p.Gly1190Ser |
47/6955 | 0.0046 | 5 | non_synonymous | Benign |

View | X | 153295949 | 153295949 | C > T | MECP2 MECP2 |
NM_001110792.1:c.1366G>A NM_004992.3:c.1330G>A |
NP_001104262.1:p.Ala456Thr NP_004983.1:p.Ala444Thr |
21/8745 | 0.00172 | 5 | non_synonymous | Benign |

View | X | 153296071 | 153296071 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1244C>T NM_004992.3:c.1208C>T |
NP_001104262.1:p.Pro415Leu NP_004983.1:p.Pro403Leu |
5/8745 | 0.00046 | 5 | non_synonymous | Benign |

View | X | 153296106 | 153296111 | AGGTGG > - | MECP2 MECP2 |
NM_001110792.1:c.1204_1209del NM_004992.3:c.1168_1173del |
NP_001104262.1:p.Pro402_Pro403del NP_004983.1:p.Pro390_Pro391del |
8/8745 | 0.00057 | 5 | Benign | |

View | X | 153296153 | 153296153 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1162C>T NM_004992.3:c.1126C>T |
NP_001104262.1:p.Pro388Ser NP_004983.1:p.Pro376Ser |
21/8745 | 0.00137 | 5 | Benign | |

View | X | 153296249 | 153296249 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1066C>T NM_004992.3:c.1030C>T |
NP_001104262.1:p.Arg356Trp NP_004983.1:p.Arg344Trp |
5/8745 | 0.0004 | 5 | Benign | |

View | X | 153296283 | 153296283 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1032C>T NM_004992.3:c.996C>T |
NP_001104262.1:p.Ser344= NP_004983.1:p.Ser332= |
2/8745 | 0.00017 | 1 | Benign | |

View | X | 153296596 | 153296596 | G > C | MECP2 MECP2 |
NM_001110792.1:c.719C>G NM_004992.3:c.683C>G |
NP_001104262.1:p.Thr240Ser NP_004983.1:p.Thr228Ser |
8/8745 | 0.00063 | 5 | Benign | |

View | X | 153296677 | 153296677 | G > A | MECP2 MECP2 |
NM_001110792.1:c.638C>T NM_004992.3:c.602C>T |
NP_001104262.1:p.Ala213Val NP_004983.1:p.Ala201Val |
17/8745 | 0.00126 | 4 | Benign | |

View | X | 153583007 | 153583007 | C > T | FLNA FLNA |
NM_001456.3:c.5266G>A NM_001110556.1:c.5290G>A |
NP_001447.2:p.Ala1756Thr NP_001104026.1:p.Ala1764Thr |
124/6955 | 0.01157 | 5 | Benign | |

View | X | 153589848 | 153589848 | G > A | FLNA FLNA |
NM_001456.3:c.3035C>T NM_001110556.1:c.3035C>T |
NP_001447.2:p.Ser1012Leu NP_001104026.1:p.Ser1012Leu |
124/6955 | 0.01165 | 5 | Benign | |

View | X | 153629294 | 153629294 | T > A | RPL10 RPL10 RPL10 |
NM_001256580.1:c.*99T>A NM_001256577.1:c.581T>A NM_006013.3:c.*99T>A |
NP_001243506.1:p.Leu194His |
34/8745 | 0.00263 | 5 | non_synonymous | Benign |

View | X | 153642450 | 153642450 | T > C | TAZ TAZ TAZ TAZ TAZ |
NR_024048.1:n.780+546T>C NM_181311.2:c.370+546T>C NM_181312.2:c.383T>C NM_000116.3:c.383T>C NM_181313.2:c.370+546T>C |
NP_851829.1:p.Phe128Ser NP_000107.1:p.Phe128Ser |
63/8745 | 0.00492 | 5 | Benign | |

View | X | 153780386 | 153780386 | G > A | IKBKG IKBKG IKBKG IKBKG |
NM_001145255.1:c.169G>A NM_001099856.2:c.373G>A NM_001099857.1:c.169G>A NM_003639.3:c.169G>A |
NP_001138727.1:p.Glu57Lys NP_001093326.2:p.Glu125Lys NP_001093327.1:p.Glu57Lys NP_003630.1:p.Glu57Lys |
21/8745 | 0.0016 | 5 | Benign | |

View | X | 153993816 | 153993816 | A > - | DKC1 |
ENST00000369550.5:c.171+14del |
16/8706 | 0.00126 | 5 | five_prime_intronic | Benign | |

View | X | 153997446 | 153997446 | A > C | DKC1 |
ENST00000369550.5:c.776A>C |
ENSP00000358563.5:p.His259Pro |
7/8745 | 0.00051 | 3 | non_synonymous | Benign |

View | X | 154189379 | 154189379 | C > T | F8 |
NM_000132.3:c.1508G>A |
NP_000123.1:p.Arg503His |
24/8745 | 0.00172 | 5 | Benign |