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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 8 65509264 65509264 G > A CYP7B1 NM_004820.3:c.1456C>T
NP_004811.1:p.Arg486Cys
27/9939 0.00136 1 Likely pathogenic
View 8 68089949 68089949 A > - CSPP1 NM_024790.6:c.3129del
NP_079066.5:p.Glu1044SerfsTer13
4/9594 0.00021 2 frameshift Likely pathogenic
View 8 92096343 92096343 G > A OTUD6B NM_016023.3:c.887+1G>A
2/9555 0.0001 1 ClinVar pathogenic variant Likely pathogenic
View 8 94792831 94792831 A > G TMEM67 TMEM67 TMEM67 NM_153704.5:c.725A>G
NM_001142301.1:c.482A>G
NR_024522.1:n.796A>G
NP_714915.3:p.Asn242Ser
NP_001135773.1:p.Asn161Ser
2/11422 9.0e-05 1 Likely pathogenic
View 8 97172848 97172848 G > A GDF6 NM_001001557.2:c.73C>T
NP_001001557.1:p.Gln25Ter
1/9594 5.0e-05 1 Likely pathogenic
View 8 116631538 116631538 G > - TRPS1 NM_014112.2:c.787del
NP_054831.2:p.Leu263CysfsTer53
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 8 140922501 140922501 C > A TRAPPC9 TRAPPC9 NM_001160372.1:c.2854G>T
NM_031466.5:c.3148G>T
NP_001153844.1:p.Glu952Ter
NP_113654.4:p.Glu1050Ter
2/11422 9.0e-05 2 premature_stop Likely pathogenic
View 8 141468493 141468493 C > - TRAPPC9 NM_031466.5:c.171del
NP_113654.4:p.Tyr58ThrfsTer22
5/11422 0.00022 2 frameshift Likely pathogenic
View 8 145736918 145736918 G > A RECQL4 ENST00000428558.2:c.3523C>T
ENSP00000475456.1:p.Gln1175Ter
2/9594 0.0001 1 Likely pathogenic
View 9 37784804 37784804 C > A EXOSC3 EXOSC3 NM_001002269.2:c.238G>T
NM_016042.3:c.238G>T
NP_001002269.1:p.Val80Phe
NP_057126.2:p.Val80Phe
10/9594 0.00052 1 Likely pathogenic
View 9 79975555 79975555 G > T VPS13A VPS13A VPS13A VPS13A NM_033305.2:c.8209G>T
NM_015186.3:c.8209G>T
NM_001018038.2:c.8209G>T
NM_001018037.1:c.8092G>T
NP_150648.2:p.Glu2737Ter
NP_056001.1:p.Glu2737Ter
NP_001018048.1:p.Glu2737Ter
NP_001018047.1:p.Glu2698Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 9 95030504 95030505 TC > - IARS IARS IARS NM_013417.3:c.1382_1383del
NM_002161.5:c.1382_1383del
NR_073446.1:n.1378_1379del
NP_038203.2:p.Arg461IlefsTer13
NP_002152.2:p.Arg461IlefsTer13
4/9555 0.00021 2 frameshift Likely pathogenic
View 9 97912356 97912356 G > A FANCC FANCC FANCC NM_001243744.1:c.535C>T
NM_001243743.1:c.535C>T
NM_000136.2:c.535C>T
NP_001230673.1:p.Arg179Ter
NP_001230672.1:p.Arg179Ter
NP_000127.2:p.Arg179Ter
2/11422 9.0e-05 1 Likely pathogenic
View 9 99017189 99017189 G > A HSD17B3 NM_000197.1:c.238C>T
NP_000188.1:p.Arg80Trp
1/11422 9.0e-05 1 Likely pathogenic
View 9 130422322 130422322 T > A STXBP1 STXBP1 NM_001032221.3:c.260T>A
NM_003165.3:c.260T>A
NP_001027392.1:p.Leu87His
NP_003156.1:p.Leu87His
1/9594 5.0e-05 2 non_synonymous Likely pathogenic
View 9 130442468 130442469 - > TA STXBP1 STXBP1 NM_001032221.3:c.1495_1496dupTA
NM_003165.3:c.1495_1496dupTA
NP_001027392.1:p.Pro500ThrfsTer47
NP_003156.1:p.Pro500ThrfsTer47
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 9 134398318 134398320 GGT > - POMT1 POMT1 POMT1 POMT1 POMT1 ENST00000402686.3:c.2004-1_2005del
ENST00000341012.7:c.1842-1_1843del
ENST00000372228.3:c.2070-1_2071del
ENST00000404875.2:c.1653-1_1654del
ENST00000423007.1:c.2004-1_2005del
1/11422 4.0e-05 2 disruption_of_splicing Likely pathogenic
View 9 136223295 136223311 CGCAGCCCCAGCTGCAA > - SURF1 SURF1 NM_001280787.1:c.-257_-241del
NM_003172.3:c.19_35del
NP_003163.1:p.Leu7GlyfsTer47
2/11422 9.0e-05 1 Likely pathogenic
View 9 139090593 139090594 - > A LHX3 LHX3 NM_014564.3:c.694dupT
NM_178138.4:c.679dupT
NP_055379.1:p.Tyr232LeufsTer28
NP_835258.1:p.Tyr227LeufsTer28
2/11422 9.0e-05 2 frameshift Likely pathogenic
View 9 139412682 139412682 C > T NOTCH1 NM_017617.3:c.1162G>A
NP_060087.3:p.Asp388Asn
1/9594 5.0e-05 2 non_synonymous Likely pathogenic
View 9 140057186 140057186 C > A GRIN1 GRIN1 GRIN1 GRIN1 GRIN1 NM_001185091.1:c.2071C>A
NM_001185090.1:c.2071C>A
NM_021569.3:c.2008C>A
NM_007327.3:c.2008C>A
NM_000832.6:c.2008C>A
NP_001172020.1:p.Pro691Thr
NP_001172019.1:p.Pro691Thr
NP_067544.1:p.Pro670Thr
NP_015566.1:p.Pro670Thr
NP_000823.4:p.Pro670Thr
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View X 19377698 19377698 A > C PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.1100A>C
NM_001173456.1:c.1007A>C
NM_001173455.1:c.1121A>C
NM_001173454.1:c.1214A>C
NP_000275.1:p.His367Pro
NP_001166927.1:p.His336Pro
NP_001166926.1:p.His374Pro
NP_001166925.1:p.His405Pro
1/11422 4.0e-05 1 non_synonymous Likely pathogenic
View X 21761900 21761901 - > G SMPX SMPX NM_014332.2:c.99dupC
NR_045617.1:n.330dupC
NP_055147.1:p.Arg34GlnfsTer8
1/9594 0.0001 2 frameshift Likely pathogenic
View X 22002513 22002513 C > T SMS SMS NM_001258423.1:c.683C>T
NM_004595.4:c.842C>T
NP_001245352.1:p.Pro228Leu
NP_004586.2:p.Pro281Leu
1/11422 9.0e-05 1 non_synonymous Likely pathogenic
View X 25025556 25025556 C > A ARX NM_139058.2:c.1120G>T
NP_620689.1:p.Val374Phe
1/11422 9.0e-05 1 non_synonymous Likely pathogenic
View X 41200785 41200786 - > TGCG DDX3X DDX3X DDX3X NM_001193416.1:c.202_205dupGCGT
NM_001193417.1:c.154_157dupGCGT
NM_001356.3:c.202_205dupGCGT
NP_001180345.1:p.Tyr69CysfsTer3
NP_001180346.1:p.Tyr53CysfsTer3
NP_001347.3:p.Tyr69CysfsTer3
1/9594 5.0e-05 2 frameshift Likely pathogenic
View X 41481869 41481869 C > T CASK CASK CASK NM_003688.3:c.1033+1G>A
NM_001126054.2:c.1033+1G>A
NM_001126055.2:c.1015+3988G>A
2/11422 0.00013 2 donor_site Likely pathogenic
View X 47041660 47041667 ACAGGGGC > - RBM10 RBM10 RBM10 RBM10 RBM10 NM_152856.2:c.1653_1660del
NM_001204466.1:c.1656_1663del
NM_001204467.1:c.1884_1891del
NM_001204468.1:c.2082_2089del
NM_005676.4:c.1887_1894del
NP_690595.1:p.Gly552LeufsTer40
NP_001191395.1:p.Gly553LeufsTer40
NP_001191396.1:p.Gly629LeufsTer40
NP_001191397.1:p.Gly695LeufsTer40
NP_005667.2:p.Gly630LeufsTer40
2/9594 0.00016 2 frameshift Likely pathogenic
View X 49082533 49082533 T > C CACNA1F CACNA1F CACNA1F NM_005183.2:c.1524-2A>G
NM_001256790.1:c.1329-2A>G
NM_001256789.1:c.1491-2A>G
2/9594 0.00016 2 acceptor_site Likely pathogenic
View X 53250025 53250025 A > G KDM5C KDM5C NM_001146702.1:c.151-2877T>C
NM_004187.3:c.224T>C
NP_004178.2:p.Leu75Pro
1/11422 4.0e-05 1 non_synonymous Likely pathogenic
View X 64141723 64141723 G > A ZC4H2 ZC4H2 ZC4H2 ZC4H2 ZC4H2 NM_001243804.1:c.130C>T
NM_001178032.2:c.130C>T
NM_001178033.2:c.199C>T
NM_018684.3:c.199C>T
NR_045044.1:n.610C>T
NP_001230733.1:p.Arg44Ter
NP_001171503.1:p.Arg44Ter
NP_001171504.1:p.Arg67Ter
NP_061154.1:p.Arg67Ter
1/9594 5.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View X 66941751 66941751 C > G AR AR NM_000044.3:c.2395C>G
NM_001011645.2:c.799C>G
NP_000035.2:p.Gln799Glu
NP_001011645.1:p.Gln267Glu
15/11422 0.00083 1 Likely pathogenic
View X 71787760 71787760 C > G HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.164+4147G>C
NM_001166419.1:c.416G>C
NM_018486.2:c.416G>C
NM_001166448.1:c.164+4147G>C
NM_001166420.1:c.416G>C
NM_001166422.1:c.416G>C
NR_051952.1:n.637+844G>C
NP_001159891.1:p.Gly139Ala
NP_060956.1:p.Gly139Ala
NP_001159892.1:p.Gly139Ala
NP_001159894.1:p.Gly139Ala
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View X 73744462 73744462 C > G SLC16A2 NM_006517.4:c.844C>G
NP_006508.2:p.Pro282Ala
1/11422 9.0e-05 3 non_synonymous Likely pathogenic
View X 79945476 79945476 G > A BRWD3 ENST00000373275.4:c.3718C>T
ENSP00000362372.4:p.Arg1240Ter
1/11422 9.0e-05 1 premature_stop Likely pathogenic
View X 79979271 79979271 A > - BRWD3 ENST00000373275.4:c.1626del
ENSP00000362372.4:p.Phe542LeufsTer89
2/11422 0.00013 2 frameshift Likely pathogenic
View X 99661781 99661781 G > C PCDH19 PCDH19 PCDH19 NM_001105243.1:c.1815C>G
NM_001184880.1:c.1815C>G
NM_020766.2:c.1815C>G
NP_001098713.1:p.Tyr605Ter
NP_001171809.1:p.Tyr605Ter
NP_065817.2:p.Tyr605Ter
1/11422 4.0e-05 2 premature_stop Likely pathogenic
View X 103041590 103041590 C > T PLP1 PLP1 PLP1 NM_001128834.1:c.388C>T
NM_000533.3:c.388C>T
NM_199478.1:c.348+40C>T
NP_001122306.1:p.His130Tyr
NP_000524.3:p.His130Tyr
1/11422 9.0e-05 1 Likely pathogenic
View X 107829923 107829923 G > A COL4A5 COL4A5 NM_000495.4:c.1111G>A
NM_033380.2:c.1111G>A
NP_000486.1:p.Gly371Arg
NP_203699.1:p.Gly371Arg
1/11422 4.0e-05 1 non_synonymous Likely pathogenic
View X 107865078 107865078 G > A COL4A5 COL4A5 NM_000495.4:c.2723G>A
NM_033380.2:c.2723G>A
NP_000486.1:p.Gly908Glu
NP_203699.1:p.Gly908Glu
1/11422 9.0e-05 1 non_synonymous Likely pathogenic
View X 108921236 108921238 GGA > - ACSL4 ACSL4 NM_022977.2:c.1032_1034del
NM_004458.2:c.909_911del
NP_075266.1:p.Pro345del
NP_004449.1:p.Pro304del
1/11422 9.0e-05 1 in_frame_indel Likely pathogenic
View X 123022480 123022480 A > T XIAP XIAP XIAP NM_001167.3:c.889A>T
NR_037916.1:n.139A>T
NM_001204401.1:c.889A>T
NP_001158.2:p.Lys297Ter
NP_001191330.1:p.Lys297Ter
2/11422 0.00013 2 premature_stop Likely pathogenic
View X 149767053 149767053 T > G MTM1 NM_000252.2:c.137-3T>G
1/11422 9.0e-05 1 Likely pathogenic
View X 152956998 152956998 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.634G>A
NM_001142805.1:c.634G>A
NM_001142806.1:c.289G>A
NP_005620.1:p.Glu212Lys
NP_001136277.1:p.Glu212Lys
NP_001136278.1:p.Glu97Lys
1/11422 9.0e-05 1 Likely pathogenic
Displaying 300 through 344 of 344 variants