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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 9 79985172 79985172 G > A VPS13A VPS13A VPS13A VPS13A NM_033305.2:c.8668-1G>A
NM_015186.3:c.8668-1G>A
NM_001018038.2:c.8668-1G>A
NM_001018037.1:c.8551-1G>A
3/11983 0.00013 2 acceptor_site 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
4/13105 0.00015 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
2/14969 7.0e-05 1 Likely pathogenic
View 9 99017189 99017189 G > A HSD17B3 NM_000197.1:c.238C>T
NP_000188.1:p.Arg80Trp
1/14969 7.0e-05 1 Likely pathogenic
View 9 111668702 111668702 C > T ELP1 NM_003640.3:c.1524G>A
NP_003631.2:p.Trp508Ter
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 9 117044735 117044735 A > G COL27A1 NM_032888.2:c.3772-2A>G
1/11983 4.0e-05 2 acceptor_site 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
1/13144 4.0e-05 2 curation 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
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 9 131348180 131348180 G > A SPTAN1 SPTAN1 SPTAN1 ENST00000372731.4:c.2714G>A
ENST00000358161.5:c.2714G>A
ENST00000372739.3:c.2714G>A
ENSP00000361816.4:p.Trp905Ter
ENSP00000350882.5:p.Trp905Ter
ENSP00000361824.3:p.Trp905Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 9 133755994 133755995 CA > - ABL1 ABL1 NM_007313.2:c.1680_1681del
NM_005157.4:c.1623_1624del
NP_009297.2:p.His560GlnfsTer5
NP_005148.2:p.His541GlnfsTer5
2/13144 8.0e-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
1/14969 3.0e-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
3/14969 0.0001 1 Likely pathogenic
View 9 136384124 136384124 G > T MYMK NM_001080483.2:c.271C>A
NP_001073952.1:p.Pro91Thr
35/13105 0.00134 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
2/14969 7.0e-05 2 frameshift Likely pathogenic
View 9 139412682 139412682 C > T NOTCH1 NM_017617.3:c.1162G>A
NP_060087.3:p.Asp388Asn
1/13144 4.0e-05 2 curation 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
1/13144 4.0e-05 1 curation 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
1/14969 3.0e-05 1 curation Likely pathogenic
View X 21761900 21761901 - > G SMPX SMPX NM_014332.2:c.99dupC
NR_045617.1:n.330dupC
NP_055147.1:p.Arg34GlnfsTer8
1/13144 8.0e-05 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
1/14969 7.0e-05 1 curation Likely pathogenic
View X 25025556 25025556 C > A ARX NM_139058.2:c.1120G>T
NP_620689.1:p.Val374Phe
1/14969 7.0e-05 1 curation Likely pathogenic
View X 30326308 30326316 CTTACCCGG > - NR0B1 NM_000475.4:c.1165_1168+5del
4/14274 0.00021 2 disruption_of_splicing 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
1/13144 4.0e-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
2/13810 0.00011 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
2/13144 0.00011 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
2/11983 0.00013 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
1/14969 3.0e-05 1 curation Likely pathogenic
View X 53658565 53658565 G > A HUWE1 NM_031407.5:c.647C>T
NP_113584.3:p.Thr216Ile
1/14969 7.0e-05 2 non_synonymous Likely pathogenic
View X 63411246 63411246 G > A AMER1 NM_152424.3:c.1921C>T
NP_689637.3:p.Arg641Ter
3/13144 0.00015 2 premature_stop 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
1/13144 4.0e-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
28/14969 0.00124 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
1/13144 4.0e-05 1 curation Likely pathogenic
View X 73744462 73744462 C > G SLC16A2 NM_006517.4:c.844C>G
NP_006508.2:p.Pro282Ala
1/14969 7.0e-05 3 non_synonymous Likely pathogenic
View X 79945476 79945476 G > A BRWD3 ENST00000373275.4:c.3718C>T
ENSP00000362372.4:p.Arg1240Ter
1/14969 7.0e-05 1 curation 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
1/14969 3.0e-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
1/14969 7.0e-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
1/14969 3.0e-05 1 curation 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
1/14969 7.0e-05 1 curation 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
1/14969 7.0e-05 1 curation 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
2/14969 0.0001 2 premature_stop Likely pathogenic
View X 148564453 148564453 G > A IDS IDS NM_000202.5:c.1477C>T
NM_001166550.1:c.1207C>T
NP_000193.1:p.Arg493Cys
NP_001160022.1:p.Arg403Cys
2/14969 0.0001 3 non_synonymous Likely pathogenic
View X 149767053 149767053 T > G MTM1 NM_000252.2:c.137-3T>G
1/13810 7.0e-05 1 Likely pathogenic
View X 153640551 153640551 G > T TAZ TAZ TAZ TAZ TAZ NR_024048.1:n.542G>T
NM_181311.2:c.238G>T
NM_181312.2:c.238G>T
NM_000116.3:c.238G>T
NM_181313.2:c.238G>T
NP_851828.1:p.Gly80Trp
NP_851829.1:p.Gly80Trp
NP_000107.1:p.Gly80Trp
NP_851830.1:p.Gly80Trp
2/14969 0.0001 2 Likely pathogenic
View X 153774277 153774277 G > A G6PD IKBKG G6PD NM_000402.3:c.184C>T
NM_001099856.2:c.189+3610G>A
NM_001042351.1:c.94C>T
NP_000393.4:p.His62Tyr
NP_001035810.1:p.His32Tyr
3/15597 0.00016 2 Likely pathogenic
Displaying 450 through 494 of 494 variants