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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
2/8685 | 0.00012 | 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 |
1/8685 | 6.0e-05 | 2 | donor_site | Likely pathogenic | |
| View | 3 | 57232868 | 57232868 | G > T | HESX1 |
NM_003865.2:c.270C>A |
NP_003856.1:p.Tyr90Ter |
1/10521 | 5.0e-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 |
1/8685 | 6.0e-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 |
2/8685 | 0.00012 | 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 |
2/8646 | 0.00012 | 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 |
30/8646 | 0.00173 | 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 |
2/8685 | 0.00012 | 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 |
4/10521 | 0.00019 | 2 | acceptor_site | 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 |
3/9384 | 0.00016 | 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 |
4/8685 | 0.00023 | 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 |
1/8685 | 6.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 4 | 103579002 | 103579003 | AC > - | MANBA |
NM_005908.3:c.1540_1541del |
NP_005899.3:p.Val514CysfsTer10 |
3/8685 | 0.00017 | 2 | frameshift | Likely pathogenic |
| View | 4 | 103586010 | 103586010 | C > A | MANBA |
NM_005908.3:c.1318-1G>T |
3/8685 | 0.00017 | 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 |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 4 | 108852776 | 108852807 | del > - | CYP2U1 |
NM_183075.2:c.-24_8del |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 4 | 123226130 | 123226130 | A > - | KIAA1109 |
NM_015312.3:c.9666del |
NP_056127.2:p.Lys3222AsnfsTer24 |
4/8685 | 0.00023 | 2 | frameshift | Likely pathogenic |
| View | 4 | 123855729 | 123855731 | CAA > - | SPATA5 |
NM_145207.2:c.989_991del |
NP_660208.2:p.Thr330del |
3/8646 | 0.00017 | 1 | Likely pathogenic | |
| View | 4 | 146575151 | 146575152 | - > A | MMAA |
NM_172250.2:c.829dupA |
NP_758454.1:p.Arg277LysfsTer14 |
3/10521 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 5 | 37180188 | 37180189 | CA > - | CPLANE1 |
NM_023073.3:c.5667_5668del |
NP_075561.3:p.Asp1890Ter |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 5 | 37201863 | 37201863 | C > A | CPLANE1 |
NM_023073.3:c.3337G>T |
NP_075561.3:p.Glu1113Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 5 | 90149131 | 90149131 | T > G | ADGRV1 ADGRV1 |
NM_032119.3:c.17235T>G NR_003149.1:n.17248T>G |
NP_115495.3:p.Tyr5745Ter |
3/10521 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 5 | 98223881 | 98223881 | G > A | CHD1 |
NM_001270.2:c.2407C>T |
NP_001261.2:p.Arg803Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 5 | 131705800 | 131705800 | C > T | SLC22A5 |
NM_003060.3:c.136C>T |
NP_003051.1:p.Pro46Ser |
23/10773 | 0.00107 | 1 | Likely pathogenic | |
| View | 5 | 137762924 | 137762924 | C > T | KDM3B |
ENST00000314358.5:c.4549C>T |
ENSP00000326563.5:p.Arg1517Ter |
1/8646 | 6.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 5 | 140025247 | 140025247 | C > - | NDUFA2 NDUFA2 NDUFA2 |
NR_033697.1:n.547del NM_001185012.1:c.*41del NM_002488.4:c.225del |
NP_002479.1:p.Asn76MetfsTer4 |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 5 | 140954700 | 140954700 | A > - | DIAPH1 DIAPH1 |
NM_001079812.2:c.1448del NM_005219.4:c.1475del |
NP_001073280.1:p.Leu483Ter NP_005210.3:p.Leu492Ter |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 5 | 145562053 | 145562053 | C > - | LARS |
NM_020117.9:c.4del |
NP_064502.9:p.Ala2ArgfsTer12 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 5 | 151239449 | 151239449 | C > T | GLRA1 GLRA1 |
NM_000171.3:c.373G>A NM_001146040.1:c.373G>A |
NP_000162.2:p.Asp125Asn NP_001139512.1:p.Asp125Asn |
2/8685 | 0.00012 | 2 | non_synonymous | Likely pathogenic |
| View | 5 | 156752534 | 156752534 | G > A | CYFIP2 CYFIP2 CYFIP2 |
NM_001037332.2:c.1870G>A NM_001037333.1:c.1870G>A NM_014376.2:c.1870G>A |
NP_001032409.2:p.Glu624Lys NP_001032410.1:p.Glu624Lys NP_055191.2:p.Glu624Lys |
1/8646 | 6.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 5 | 176684104 | 176684104 | T > A | NSD1 NSD1 |
NM_172349.2:c.4111T>A NM_022455.4:c.4918T>A |
NP_758859.1:p.Cys1371Ser NP_071900.2:p.Cys1640Ser |
1/9384 | 5.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 6 | 7580621 | 7580621 | C > T | DSP DSP |
ENST00000379802.3:c.4198C>T ENST00000418664.2:c.3582+616C>T |
ENSP00000369129.3:p.Arg1400Ter |
2/10521 | 0.0001 | 1 | Likely pathogenic | |
| View | 6 | 30691372 | 30691372 | C > G | TUBB |
NM_178014.2:c.533C>G |
NP_821133.1:p.Thr178Ser |
1/8685 | 6.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 6 | 42935188 | 42935188 | C > T | PEX6 |
NM_000287.3:c.1802G>A |
NP_000278.3:p.Arg601Gln |
52/8685 | 0.00299 | 2 | Likely pathogenic | |
| View | 6 | 42937486 | 42937486 | G > - | PEX6 |
NM_000287.3:c.1287del |
NP_000278.3:p.Trp430GlyfsTer20 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 6 | 73751701 | 73751701 | C > T | KCNQ5 KCNQ5 KCNQ5 KCNQ5 KCNQ5 |
NM_001160130.1:c.532C>T NM_019842.3:c.532C>T NM_001160132.1:c.532C>T NM_001160134.1:c.532C>T NM_001160133.1:c.532C>T |
NP_001153602.1:p.Arg178Ter NP_062816.2:p.Arg178Ter NP_001153604.1:p.Arg178Ter NP_001153606.1:p.Arg178Ter NP_001153605.1:p.Arg178Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 6 | 74191826 | 74191826 | C > T | MTO1 MTO1 MTO1 |
NM_133645.2:c.1399C>T NM_001123226.1:c.1444C>T NM_012123.3:c.1324C>T |
NP_598400.1:p.Arg467Ter NP_001116698.1:p.Arg482Ter NP_036255.2:p.Arg442Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 6 | 74191932 | 74191932 | G > A | MTO1 MTO1 MTO1 |
NM_133645.2:c.1505G>A NM_001123226.1:c.1550G>A NM_012123.3:c.1430G>A |
NP_598400.1:p.Arg502His NP_001116698.1:p.Arg517His NP_036255.2:p.Arg477His |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 6 | 86246509 | 86246509 | C > G | SNX14 SNX14 |
NM_153816.3:c.1608+1G>C NM_020468.3:c.1449+1G>C |
5/8685 | 0.00029 | 2 | donor_site | Likely pathogenic | |
| View | 6 | 99323430 | 99323447 | GCTGCTCTGCAGAGTTGG > - | FBXL4 FBXL4 FBXL4 |
NM_012160.4:c.1546_1563del NR_103836.1:n.1591_1608del NM_001278716.1:c.1546_1563del |
NP_036292.2:p.Pro516_Ser521del NP_001265645.1:p.Pro516_Ser521del |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 6 | 99323549 | 99323549 | G > A | FBXL4 FBXL4 FBXL4 |
NM_012160.4:c.1444C>T NR_103836.1:n.1489C>T NM_001278716.1:c.1444C>T |
NP_036292.2:p.Arg482Trp NP_001265645.1:p.Arg482Trp |
3/8685 | 0.00017 | 1 | Likely pathogenic | |
| View | 6 | 99323552 | 99323553 | - > T | FBXL4 FBXL4 FBXL4 |
NM_012160.4:c.1440dupA NR_103836.1:n.1485dupA NM_001278716.1:c.1440dupA |
NP_036292.2:p.Leu481ThrfsTer10 NP_001265645.1:p.Leu481ThrfsTer10 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 6 | 105564658 | 105564661 | AAGA > - | BVES BVES BVES |
NM_001199563.1:c.731_734del NM_147147.3:c.731_734del NM_007073.4:c.731_734del |
NP_001186492.1:p.Phe244CysfsTer20 NP_671488.1:p.Phe244CysfsTer20 NP_009004.2:p.Phe244CysfsTer20 |
1/8685 | 6.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 6 | 121768709 | 121768709 | G > A | GJA1 |
NM_000165.3:c.716G>A |
NP_000156.1:p.Arg239Gln |
1/8685 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 6 | 131923522 | 131923522 | C > T | MED23 MED23 MED23 MED23 |
NM_004830.3:c.1932-1G>A NM_001270521.1:c.1932-1G>A NM_001270522.1:c.1932-1G>A NM_015979.3:c.1950-1G>A |
2/8685 | 0.00012 | 2 | acceptor_site | Likely pathogenic | |
| View | 6 | 132211480 | 132211480 | G > A | ENPP1 |
NM_006208.2:c.2608-1G>A |
1/10521 | 5.0e-05 | 2 | acceptor_site | Likely pathogenic |