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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 |