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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 20 | 49510578 | 49510578 | G > A | ADNP ADNP |
NM_015339.2:c.673C>T NM_181442.1:c.673C>T |
NP_056154.1:p.Arg225Ter NP_852107.1:p.Arg225Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 20 | 62044927 | 62044927 | G > A | KCNQ2 KCNQ2 KCNQ2 KCNQ2 |
NM_004518.4:c.1555C>T NM_172108.3:c.1546C>T NM_172107.2:c.1639C>T NM_172106.1:c.1585C>T |
NP_004509.2:p.Arg519Trp NP_742106.1:p.Arg516Trp NP_742105.1:p.Arg547Trp NP_742104.1:p.Arg529Trp |
1/9594 | 5.0e-05 | 1 | Likely pathogenic | |
| View | 21 | 47545690 | 47545690 | G > A | COL6A2 COL6A2 COL6A2 |
NM_058174.2:c.1970-9G>A NM_001849.3:c.1970-9G>A NM_058175.2:c.1970-9G>A |
2/10293 | 0.0001 | 1 | Likely pathogenic | ||
| View | 22 | 18905934 | 18905934 | A > G | PRODH PRODH |
ENST00000357068.6:c.1322T>C ENST00000334029.2:c.998T>C |
ENSP00000349577.6:p.Leu441Pro ENSP00000334726.2:p.Leu333Pro |
127/9594 | 0.00667 | 1 | Likely pathogenic | |
| View | 22 | 18908937 | 18908937 | C > G | PRODH PRODH |
ENST00000357068.6:c.930-1G>C ENST00000334029.2:c.606-1G>C |
2/9594 | 0.0001 | 2 | acceptor_site | Likely pathogenic | |
| View | 22 | 20783824 | 20783824 | G > A | SCARF2 SCARF2 |
NM_153334.4:c.1423C>T NM_182895.2:c.1423C>T |
NP_699165.2:p.Arg475Ter NP_878315.1:p.Arg475Trp |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 21096950 | 21096950 | G > A | PI4KA |
NM_058004.3:c.3559C>T |
NP_477352.3:p.Gln1187Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 24175859 | 24175859 | A > G | SMARCB1 SMARCB1 |
NM_003073.3:c.1087A>G NM_001007468.1:c.1060A>G |
NP_003064.2:p.Lys363Glu NP_001007469.1:p.Lys354Glu |
1/9594 | 5.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 22 | 24718329 | 24718329 | C > T | SPECC1L SPECC1L-ADORA2A SPECC1L SPECC1L |
ENST00000541492.1:c.1381C>T NR_103546.1:n.1689C>T ENST00000314328.9:c.1381C>T ENST00000437398.1:c.1381C>T |
ENSP00000439633.1:p.Arg461Ter ENSP00000325785.8:p.Arg461Ter ENSP00000393363.1:p.Arg461Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 24724859 | 24724862 | AAAT > - | SPECC1L SPECC1L-ADORA2A SPECC1L SPECC1L |
ENST00000541492.1:c.2195_2198del NR_103546.1:n.2503_2506del ENST00000314328.9:c.2195_2198del ENST00000437398.1:c.2195_2198del |
ENSP00000439633.1:p.Ile732ArgfsTer25 ENSP00000325785.8:p.Ile732ArgfsTer25 ENSP00000393363.1:p.Ile732ArgfsTer25 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 22 | 31013475 | 31013475 | G > T | TCN2 TCN2 |
NM_000355.3:c.1099G>T NM_001184726.1:c.1018G>T |
NP_000346.2:p.Gly367Ter NP_001171655.1:p.Gly340Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 38129421 | 38129421 | T > C | TRIOBP |
NM_001039141.2:c.4062+2T>C |
2/9594 | 0.0001 | 2 | donor_site | Likely pathogenic | |
| View | 22 | 40761034 | 40761034 | T > C | ADSL ADSL |
NM_000026.2:c.1342T>C NM_001123378.1:c.1191+665T>C |
NP_000017.1:p.Ser448Pro |
5/9594 | 0.00026 | 1 | Likely pathogenic | |
| View | 22 | 42457056 | 42457056 | C > T | NAGA |
NM_000262.2:c.973G>A |
NP_000253.1:p.Glu325Lys |
70/9594 | 0.0037 | 1 | Likely pathogenic | |
| View | 22 | 50962330 | 50962330 | G > A | SCO2 SCO2 NCAPH2 SCO2 SCO2 NCAPH2 |
NM_001169110.1:c.511C>T NM_001169111.1:c.511C>T NM_152299.3:c.*526G>A NM_001169109.1:c.511C>T NM_005138.2:c.511C>T NM_001185011.1:c.*526G>A |
NP_001162581.1:p.Arg171Trp NP_001162582.1:p.Arg171Trp NP_001162580.1:p.Arg171Trp NP_005129.2:p.Arg171Trp |
2/11422 | 9.0e-05 | 1 | Likely pathogenic | |
| View | 22 | 51123083 | 51123083 | A > G | SHANK3 |
ENST00000262795.3:c.1030+4A>G |
1/9594 | 5.0e-05 | 2 | five_prime_flank | Likely pathogenic | |
| View | 22 | 51137232 | 51137232 | G > T | SHANK3 |
ENST00000262795.3:c.1660+1G>T |
1/9594 | 5.0e-05 | 2 | donor_site | Likely pathogenic | |
| View | 3 | 9781036 | 9781036 | G > A | BRPF1 BRPF1 |
NM_001003694.1:c.953G>A NM_004634.2:c.953G>A |
NP_001003694.1:p.Arg318His NP_004625.2:p.Arg318His |
1/9555 | 5.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 3 | 10094113 | 10094113 | C > T | FANCD2 FANCD2 |
NM_033084.3:c.1588C>T NM_001018115.1:c.1588C>T |
NP_149075.2:p.Arg530Ter NP_001018125.1:p.Arg530Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 14708384 | 14708384 | G > A | CCDC174 |
NM_016474.4:c.654G>A |
NP_057558.3:p.Trp218Ter |
2/9555 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 15683564 | 15683564 | G > A | BTD |
NM_000060.2:c.459G>A |
NP_000051.1:p.Glu153= |
1/11422 | 4.0e-05 | 1 | Likely pathogenic | |
| View | 3 | 24169140 | 24169140 | C > T | THRB THRB THRB THRB |
NM_000461.4:c.994G>A NM_001128176.2:c.994G>A NM_001128177.1:c.994G>A NM_001252634.1:c.994G>A |
NP_000452.2:p.Gly332Arg NP_001121648.1:p.Gly332Arg NP_001121649.1:p.Gly332Arg NP_001239563.1:p.Gly332Arg |
1/9594 | 5.0e-05 | 2 | Likely pathogenic | |
| View | 3 | 25770719 | 25770719 | G > A | NGLY1 NGLY1 NGLY1 NGLY1 |
NM_018297.3:c.1516C>T NM_001145295.1:c.1516C>T NM_001145293.1:c.1462C>T NM_001145294.1:c.1390C>T |
NP_060767.2:p.Arg506Ter NP_001138767.1:p.Arg506Ter NP_001138765.1:p.Arg488Ter NP_001138766.1:p.Arg464Ter |
5/9594 | 0.00026 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 41266853 | 41266854 | - > C | CTNNB1 CTNNB1 CTNNB1 |
NM_001904.3:c.526dupC NM_001098209.1:c.526dupC NM_001098210.1:c.526dupC |
NP_001895.1:p.His176ProfsTer5 NP_001091679.1:p.His176ProfsTer5 NP_001091680.1:p.His176ProfsTer5 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 3 | 49059888 | 49059889 | - > A | NDUFAF3 NDUFAF3 NDUFAF3 NDUFAF3 |
NM_199070.1:c.17dupA NM_199074.1:c.17dupA NM_199073.1:c.17dupA NM_199069.1:c.188dupA |
NP_951033.1:p.Tyr6Ter NP_951056.1:p.Tyr6Ter NP_951047.1:p.Tyr6Ter NP_951032.1:p.Tyr63Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 49142049 | 49142049 | C > A | QARS QARS QARS |
NM_005051.2:c.117+1G>T NM_001272073.1:c.117+1G>T NR_073590.1:n.513+1G>T |
1/9594 | 5.0e-05 | 2 | donor_site | Likely pathogenic | |
| View | 3 | 52393279 | 52393279 | G > A | DNAH1 |
ENST00000420323.2:c.4284G>A |
ENSP00000401514.2:p.Trp1428Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 57232868 | 57232868 | G > T | HESX1 |
NM_003865.2:c.270C>A |
NP_003856.1:p.Tyr90Ter |
1/11422 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 58092454 | 58092454 | C > T | FLNB FLNB FLNB FLNB |
NM_001164319.1:c.1795C>T NM_001164317.1:c.1795C>T NM_001164318.1:c.1795C>T NM_001457.3:c.1795C>T |
NP_001157791.1:p.Gln599Ter NP_001157789.1:p.Gln599Ter NP_001157790.1:p.Gln599Ter NP_001448.2:p.Gln599Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 58134054 | 58134055 | - > C | FLNB FLNB FLNB FLNB |
NM_001164319.1:c.5781dupC NM_001164317.1:c.5946dupC NM_001164318.1:c.5820dupC NM_001457.3:c.5853dupC |
NP_001157791.1:p.Cys1928LeufsTer50 NP_001157789.1:p.Cys1983LeufsTer50 NP_001157790.1:p.Cys1941LeufsTer50 NP_001448.2:p.Cys1952LeufsTer50 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 3 | 66312514 | 66312514 | C > T | SLC25A26 SLC25A26 SLC25A26 |
NR_028475.1:n.536C>T NM_001164796.1:c.76C>T NM_173471.3:c.340C>T |
NP_001158268.1:p.Gln26Ter NP_775742.4:p.Gln114Ter |
2/9555 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 71019871 | 71019871 | C > T | FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 |
NM_001244816.1:c.1722+16G>A NM_001244815.1:c.1728+16G>A NM_001244814.1:c.1722+16G>A NM_001244813.1:c.1422+16G>A NM_001244812.1:c.1494+16G>A NM_001244810.1:c.1770+16G>A NM_001244808.1:c.1719+16G>A NM_032682.5:c.1722+16G>A |
32/9555 | 0.00167 | 4 | five_prime_intronic | Likely pathogenic | |
| View | 3 | 148903162 | 148903162 | G > A | CP CP |
ENST00000264613.6:c.2149C>T NR_046371.1:n.2189C>T |
ENSP00000264613.6:p.Gln717Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 180706018 | 180706018 | C > T | DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 |
NR_033722.1:n.176-1G>A NR_033721.1:n.176-134G>A NR_046073.1:n.175+1370G>A NM_145261.3:c.4-1G>A NR_033723.1:n.176-1G>A NM_001190233.1:c.-72-1G>A |
4/11422 | 0.00018 | 2 | acceptor_site | Likely pathogenic | |
| View | 3 | 182756860 | 182756860 | C > T | MCCC1 |
NM_020166.3:c.1331G>A |
NP_064551.3:p.Arg444His |
1/9594 | 5.0e-05 | 1 | Likely pathogenic | |
| View | 4 | 3495166 | 3495166 | C > - | DOK7 DOK7 DOK7 |
ENST00000507039.1:c.*678del NM_001256896.1:c.527del ENST00000340083.5:c.1457del |
NP_001243825.1:p.Pro176ArgfsTer15 ENSP00000344432.5:p.Pro486ArgfsTer15 |
3/10293 | 0.00015 | 2 | frameshift | Likely pathogenic |
| View | 4 | 6279306 | 6279306 | C > T | WFS1 WFS1 |
NM_006005.3:c.124C>T NM_001145853.1:c.124C>T |
NP_005996.2:p.Arg42Ter NP_001139325.1:p.Arg42Ter |
4/9594 | 0.00021 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 4 | 15480407 | 15480407 | C > T | CC2D2A CC2D2A CC2D2A |
NM_001164720.1:c.100C>T NM_001080522.2:c.100C>T NM_020785.2:c.100C>T |
NP_001158192.1:p.Arg34Ter NP_001073991.2:p.Arg34Ter NP_065836.2:p.Arg34Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 4 | 47427698 | 47427698 | C > - | GABRB1 |
ENST00000295454.3:c.1090del |
ENSP00000295454.3:p.His364ThrfsTer24 |
1/9555 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 4 | 103579002 | 103579003 | AC > - | MANBA |
NM_005908.3:c.1540_1541del |
NP_005899.3:p.Val514CysfsTer10 |
3/9594 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 4 | 103586010 | 103586010 | C > A | MANBA |
NM_005908.3:c.1318-1G>T |
3/9594 | 0.00016 | 2 | acceptor_site | Likely pathogenic | |
| View | 4 | 107157915 | 107157915 | C > T | TBCK TBCK TBCK TBCK |
ENST00000394706.3:c.1103+1G>A ENST00000394708.2:c.1220+1G>A ENST00000432496.2:c.1220+1G>A ENST00000361687.4:c.1031+1G>A |
2/9594 | 0.0001 | 2 | donor_site | Likely pathogenic | |
| View | 4 | 107249367 | 107249371 | GAAAA > - | AIMP1 AIMP1 AIMP1 |
NM_004757.3:c.362_366del NM_001142415.1:c.362_366del NM_001142416.1:c.434_438del |
NP_004748.2:p.Lys121SerfsTer6 NP_001135887.1:p.Lys121SerfsTer6 NP_001135888.1:p.Lys145SerfsTer6 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 4 | 108852776 | 108852807 | del > - | CYP2U1 |
NM_183075.2:c.-24_8del |
2/9594 | 0.0001 | 2 | loss_of_initiation | Likely pathogenic | |
| View | 4 | 113568112 | 113568112 | G > T | LARP7 LARP7 LARP7 LARP7 |
NM_016648.3:c.552+1G>T NM_015454.2:c.552+1G>T NR_049768.1:n.727+1G>T NM_001267039.1:c.573+1G>T |
3/9594 | 0.00016 | 2 | donor_site | Likely pathogenic | |
| View | 4 | 113570753 | 113570754 | - > A | LARP7 LARP7 LARP7 LARP7 |
NM_016648.3:c.1213dupA NM_015454.2:c.1213dupA NR_049768.1:n.1388dupA NM_001267039.1:c.1234dupA |
NP_057732.2:p.Thr405AsnfsTer26 NP_056269.1:p.Thr405AsnfsTer26 NP_001253968.1:p.Thr412AsnfsTer26 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 4 | 114257034 | 114257034 | C > T | ANK2 ANK2 ANK2 |
NM_020977.3:c.3412C>T NM_001127493.1:c.3385C>T NM_001148.4:c.3412C>T |
NP_066187.2:p.Arg1138Ter NP_001120965.1:p.Arg1129Ter NP_001139.3:p.Arg1138Ter |
2/9594 | 0.0001 | 1 | Likely pathogenic | |
| View | 4 | 123226130 | 123226130 | A > - | KIAA1109 |
NM_015312.3:c.9666del |
NP_056127.2:p.Lys3222AsnfsTer24 |
6/9594 | 0.00031 | 2 | frameshift | Likely pathogenic |
| View | 4 | 123855729 | 123855731 | CAA > - | SPATA5 |
NM_145207.2:c.989_991del |
NP_660208.2:p.Thr330del |
3/9555 | 0.00016 | 1 | Likely pathogenic | |
| View | 4 | 146575151 | 146575152 | - > A | MMAA |
NM_172250.2:c.829dupA |
NP_758454.1:p.Arg277LysfsTer14 |
3/11422 | 0.00013 | 2 | frameshift | Likely pathogenic |