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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 | 10417749 | 10417749 | T > C | MID1 MID1 MID1 MID1 MID1 |
NM_033289.1:c.1549A>G NM_001098624.2:c.1663A>G NM_001193277.1:c.1663A>G NM_033290.3:c.1663A>G NM_000381.3:c.1663A>G |
NP_150631.1:p.Ile517Val NP_001092094.1:p.Ile555Val NP_001180206.1:p.Ile555Val NP_150632.1:p.Ile555Val NP_000372.1:p.Ile555Val |
4/14969 | 0.0002 | 1 | Uncertain Significance | |

View | X | 12708353 | 12708353 | G > C | FRMPD4 |
NM_014728.3:c.721G>C |
NP_055543.2:p.Gly241Arg |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 18643336 | 18643336 | G > A | CDKL5 CDKL5 |
NM_001037343.1:c.2465G>A NM_003159.2:c.2465G>A |
NP_001032420.1:p.Arg822His NP_003150.1:p.Arg822His |
4/13843 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | X | 19369513 | 19369513 | G > A | PDHA1 PDHA1 PDHA1 PDHA1 |
NM_000284.3:c.406G>A NM_001173456.1:c.406G>A NM_001173455.1:c.427G>A NM_001173454.1:c.520G>A |
NP_000275.1:p.Ala136Thr NP_001166927.1:p.Ala136Thr NP_001166926.1:p.Ala143Thr NP_001166925.1:p.Ala174Thr |
8/14969 | 0.00037 | 3 | curation | Uncertain Significance |

View | X | 19713860 | 19713860 | C > T | SH3KBP1 SH3KBP1 |
NM_031892.2:c.391-1G>A NM_001024666.2:c.280-1G>A |
2/11944 | 0.00013 | 2 | acceptor_site | Uncertain Significance | |

View | X | 21667134 | 21667134 | A > C | CNKSR2 CNKSR2 |
NM_001168647.1:c.2788A>C NM_014927.3:c.2878A>C |
NP_001162118.1:p.Ser930Arg NP_055742.2:p.Ser960Arg |
3/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | X | 21871475 | 21871475 | T > C | MBTPS2 |
NM_015884.3:c.543-19T>C |
3/13771 | 0.00011 | 3 | three_prime_flank | Uncertain Significance | |

View | X | 24089786 | 24089786 | A > G | EIF2S3 |
NM_001415.3:c.1124A>G |
NP_001406.1:p.Tyr375Cys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 25031889 | 25031889 | A > C | ARX |
NM_139058.2:c.223T>G |
NP_620689.1:p.Phe75Val |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 25033764 | 25033764 | T > G | ARX |
NM_139058.2:c.91A>C |
NP_620689.1:p.Ser31Arg |
4/14969 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | X | 29935647 | 29935647 | A > G | IL1RAPL1 |
NM_014271.3:c.845A>G |
NP_055086.1:p.Tyr282Cys |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 29973717 | 29973717 | A > G | IL1RAPL1 |
NM_014271.3:c.1871A>G |
NP_055086.1:p.Tyr624Cys |
1/14969 | 7.0e-05 | 3 | Uncertain Significance | |

View | X | 32583970 | 32583970 | T > G | DMD DMD |
ENST00000378677.2:c.1829A>C ENST00000357033.4:c.1841A>C |
ENSP00000367948.2:p.Lys610Thr ENSP00000354923.3:p.Lys614Thr |
4/14969 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | X | 39933218 | 39933218 | T > A | BCOR BCOR BCOR BCOR |
NM_017745.5:c.1381A>T NM_001123384.1:c.1381A>T NM_001123383.1:c.1381A>T NM_001123385.1:c.1381A>T |
NP_060215.4:p.Met461Leu NP_001116856.1:p.Met461Leu NP_001116855.1:p.Met461Leu NP_001116857.1:p.Met461Leu |
1/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 40996261 | 40996261 | C > G | USP9X USP9X |
NM_001039590.2:c.640C>G NM_001039591.2:c.640C>G |
NP_001034679.2:p.Pro214Ala NP_001034680.2:p.Pro214Ala |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 41055619 | 41055619 | C > T | USP9X USP9X |
NM_001039590.2:c.4086+7C>T NM_001039591.2:c.4086+7C>T |
4/11985 | 0.00025 | 3 | five_prime_intronic | Uncertain Significance | |

View | X | 41077775 | 41077775 | A > G | USP9X USP9X |
NM_001039590.2:c.6360A>G NM_001039591.2:c.6360A>G |
NP_001034679.2:p.Ile2120Met NP_001034680.2:p.Ile2120Met |
4/13144 | 0.00027 | 3 | Uncertain Significance | |

View | X | 41084042 | 41084042 | C > T | USP9X USP9X |
NM_001039590.2:c.6799C>T NM_001039591.2:c.6799C>T |
NP_001034679.2:p.Pro2267Ser NP_001034680.2:p.Pro2267Ser |
4/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 41390309 | 41390309 | C > T | CASK CASK CASK |
NM_003688.3:c.2456G>A NM_001126054.2:c.2387G>A NM_001126055.2:c.2384G>A |
NP_003679.2:p.Arg819Gln NP_001119526.1:p.Arg796Gln NP_001119527.1:p.Arg795Gln |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 41419052 | 41419052 | T > A | CASK CASK CASK |
NM_003688.3:c.1717A>T NM_001126054.2:c.1717A>T NM_001126055.2:c.1699A>T |
NP_003679.2:p.Thr573Ser NP_001119526.1:p.Thr573Ser NP_001119527.1:p.Thr567Ser |
1/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 43809062 | 43809062 | C > T | NDP |
NM_000266.3:c.385G>A |
NP_000257.1:p.Glu129Lys |
3/14969 | 0.00013 | 3 | curation | Uncertain Significance |

View | X | 44922709 | 44922709 | C > A | KDM6A |
NM_021140.2:c.1570C>A |
NP_066963.2:p.Pro524Thr |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 47030503 | 47030503 | C > T | RBM10 RBM10 RBM10 RBM10 RBM10 |
NM_152856.2:c.201+1606C>T NM_001204466.1:c.201+1606C>T NM_001204467.1:c.278C>T NM_001204468.1:c.473C>T NM_005676.4:c.278C>T |
NP_001191396.1:p.Pro93Leu NP_001191397.1:p.Pro158Leu NP_005667.2:p.Pro93Leu |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 47041026 | 47041026 | G > T | RBM10 RBM10 RBM10 RBM10 RBM10 |
NM_152856.2:c.1322G>T NM_001204466.1:c.1325G>T NM_001204467.1:c.1553G>T NM_001204468.1:c.1751G>T NM_005676.4:c.1556G>T |
NP_690595.1:p.Gly441Val NP_001191395.1:p.Gly442Val NP_001191396.1:p.Gly518Val NP_001191397.1:p.Gly584Val NP_005667.2:p.Gly519Val |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 47062920 | 47062922 | TCT > - | UBA1 UBA1 |
NM_003334.3:c.1420-16_1420-14del NM_153280.2:c.1420-16_1420-14del |
4/13771 | 0.00022 | 3 | three_prime_flank | Uncertain Significance | |

View | X | 47434159 | 47434159 | C > A | SYN1 SYN1 |
NM_133499.2:c.1321G>T NM_006950.3:c.1321G>T |
NP_598006.1:p.Ala441Ser NP_008881.2:p.Ala441Ser |
3/13144 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | X | 47434649 | 47434649 | T > C | SYN1 SYN1 |
NM_133499.2:c.1183A>G NM_006950.3:c.1183A>G |
NP_598006.1:p.Ile395Val NP_008881.2:p.Ile395Val |
6/13144 | 0.0003 | 3 | non_synonymous | Uncertain Significance |

View | X | 48546743 | 48546743 | G > A | WAS |
NM_000377.2:c.832G>A |
NP_000368.1:p.Glu278Lys |
1/14969 | 7.0e-05 | 3 | Uncertain Significance | |

View | X | 49104908 | 49104908 | C > T | CCDC22 |
NM_014008.3:c.1253C>T |
NP_054727.1:p.Ala418Val |
3/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | X | 49855377 | 49855377 | T > G | CLCN5 CLCN5 CLCN5 CLCN5 |
NR_073607.1:n.2275T>G NM_001127898.2:c.2194T>G NM_001127899.2:c.2194T>G NM_000084.3:c.1984T>G |
NP_001121370.1:p.Phe732Val NP_001121371.1:p.Phe732Val NP_000075.1:p.Phe662Val |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 50345632 | 50345632 | C > T | SHROOM4 SHROOM4 |
NM_020717.3:c.3942+1G>A NR_027121.1:n.3968+1G>A |
2/13810 | 0.00011 | 3 | curation | Uncertain Significance | |

View | X | 53223826 | 53223826 | G > A | KDM5C KDM5C |
NM_001146702.1:c.3332C>T NM_004187.3:c.3533C>T |
NP_001140174.1:p.Ser1111Leu NP_004178.2:p.Ser1178Leu |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 53240674 | 53240674 | C > T | KDM5C KDM5C |
NM_001146702.1:c.1200+5G>A NM_004187.3:c.1401+5G>A |
2/13810 | 7.0e-05 | 3 | five_prime_flank | Uncertain Significance | |

View | X | 53243968 | 53243968 | C > A | KDM5C KDM5C |
NM_001146702.1:c.824G>T NM_004187.3:c.1025G>T |
NP_001140174.1:p.Cys275Phe NP_004178.2:p.Cys342Phe |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 53265641 | 53265641 | T > C | IQSEC2 IQSEC2 |
NM_001111125.2:c.3314A>G NM_015075.1:c.2699A>G |
NP_001104595.1:p.Asn1105Ser NP_055890.1:p.Asn900Ser |
2/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | X | 53280364 | 53280365 | - > G | IQSEC2 IQSEC2 |
NM_001111125.2:c.1402-9dupC NM_015075.1:c.787-9dupC |
3/11983 | 0.00017 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | X | 53618049 | 53618049 | T > A | HUWE1 |
NM_031407.5:c.4006A>T |
NP_113584.3:p.Met1336Leu |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 53631663 | 53631663 | C > A | HUWE1 |
NM_031407.5:c.2629G>T |
NP_113584.3:p.Ala877Ser |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 53641530 | 53641530 | A > T | HUWE1 |
NM_031407.5:c.2226T>A |
NP_113584.3:p.Asn742Lys |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 54069181 | 54069181 | G > T | PHF8 PHF8 PHF8 PHF8 |
NM_001184898.1:c.-20C>A NM_001184897.1:c.-20C>A NM_015107.2:c.-20C>A NM_001184896.1:c.89C>A |
NP_001171825.1:p.Thr30Lys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 54496640 | 54496640 | C > T | FGD1 |
NM_004463.2:c.910G>A |
NP_004454.2:p.Gly304Arg |
7/14969 | 0.00037 | 3 | non_synonymous | Uncertain Significance |

View | X | 54521747 | 54521747 | G > A | FGD1 |
NM_004463.2:c.119C>T |
NP_004454.2:p.Pro40Leu |
5/14969 | 0.0003 | 3 | non_synonymous | Uncertain Significance |

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 |
1/14969 | 3.0e-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 |
4/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | X | 67293014 | 67293014 | G > A | OPHN1 |
NM_002547.2:c.1814C>T |
NP_002538.1:p.Ser605Phe |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 67331712 | 67331712 | T > C | OPHN1 |
NM_002547.2:c.1510A>G |
NP_002538.1:p.Ile504Val |
6/14969 | 0.00033 | 3 | non_synonymous | Uncertain Significance |

View | X | 67333024 | 67333024 | G > A | OPHN1 |
NM_002547.2:c.1419C>T |
NP_002538.1:p.Ala473= |
3/14969 | 0.00013 | 3 | five_prime_exonic | Uncertain Significance |

View | X | 67333081 | 67333081 | C > G | OPHN1 |
NM_002547.2:c.1362G>C |
NP_002538.1:p.Arg454Ser |
2/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | X | 69503221 | 69503221 | C > A | RAB41 |
NM_001032726.2:c.338C>A |
NP_001027898.2:p.Thr113Lys |
1/13105 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | X | 69607098 | 69607098 | G > A | KIF4A |
ENST00000374403.3:c.2183G>A |
ENSP00000363524.3:p.Arg728Gln |
3/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |