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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 2 | 1915795 | 1915795 | C > T | MYT1L |
ENST00000399161.2:c.1706G>A |
ENSP00000382114.2:p.Arg569Gln |
1/6955 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 2 | 1982996 | 1982996 | A > T | MYT1L |
ENST00000399161.2:c.93T>A |
ENSP00000382114.2:p.Cys31Ter |
1/6955 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 2 | 32353512 | 32353512 | C > - | SPAST SPAST |
NM_014946.3:c.1209del NM_199436.1:c.1113del |
NP_055761.2:p.Phe404LeufsTer3 NP_955468.1:p.Phe372LeufsTer3 |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 2 | 88885358 | 88885358 | C > T | EIF2AK3 |
NM_004836.5:c.1650+1G>A |
2/8745 | 0.00011 | 2 | donor_site | Likely pathogenic | |
| View | 2 | 99778789 | 99778789 | G > - | LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 |
NR_037935.1:n.854del NM_015929.3:c.369del NR_037936.1:n.530del NM_001204830.1:c.369del NM_145198.2:c.369del NM_145199.2:c.369del NM_145197.2:c.369del |
NP_057013.1:p.Lys123AsnfsTer8 NP_001191759.1:p.Lys123AsnfsTer8 NP_660199.1:p.Lys123AsnfsTer8 NP_660200.1:p.Lys123AsnfsTer8 NP_660198.1:p.Lys123AsnfsTer8 |
17/6955 | 0.00122 | 2 | frameshift | Likely pathogenic |
| View | 2 | 121743949 | 121743949 | G > - | GLI2 |
NM_005270.4:c.2055del |
NP_005261.2:p.Thr686ArgfsTer9 |
1/6955 | 7.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 2 | 138762746 | 138762746 | C > - | HNMT |
NM_006895.2:c.475del |
NP_008826.1:p.His159IlefsTer4 |
2/7166 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 2 | 166915128 | 166915128 | G > A | SCN1A SCN1A SCN1A SCN1A |
NM_001202435.1:c.335C>T NM_006920.4:c.335C>T NM_001165963.1:c.335C>T NM_001165964.1:c.335C>T |
NP_001189364.1:p.Thr112Ile NP_008851.3:p.Thr112Ile NP_001159435.1:p.Thr112Ile NP_001159436.1:p.Thr112Ile |
1/7166 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 2 | 191109651 | 191109651 | G > A | HIBCH HIBCH |
NM_198047.2:c.853C>T NM_014362.3:c.853C>T |
NP_932164.1:p.Gln285Ter NP_055177.2:p.Gln285Ter |
3/8745 | 0.00017 | 2 | premature_stop | Likely pathogenic |
| View | 2 | 197081790 | 197081790 | C > T | HECW2 |
ENST00000260983.3:c.4436G>A |
ENSP00000260983.2:p.Arg1479Gln |
1/6916 | 7.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 2 | 228176567 | 228176567 | G > A | LOC654841 COL4A3 |
NR_102371.1:n.48-6196C>T NM_000091.4:c.4994G>A |
NP_000082.2:p.Cys1665Tyr |
2/8745 | 0.00011 | 1 | Likely pathogenic | |
| View | 2 | 241810850 | 241810850 | G > A | AGXT |
NM_000030.2:c.508G>A |
NP_000021.1:p.Gly170Arg |
10/6955 | 0.00072 | 1 | Likely pathogenic | |
| View | 20 | 32880181 | 32880181 | T > C | AHCY AHCY |
NM_000687.2:c.428A>G NM_001161766.1:c.344A>G |
NP_000678.1:p.Tyr143Cys NP_001155238.1:p.Tyr115Cys |
7/6955 | 0.0005 | 1 | Likely pathogenic | |
| View | 20 | 44592290 | 44592290 | C > T | ZNF335 |
NM_022095.3:c.1356-1G>A |
1/6955 | 7.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 20 | 47612367 | 47612367 | C > T | ARFGEF2 |
NM_006420.2:c.3169C>T |
NP_006411.2:p.Gln1057Ter |
1/6955 | 7.0e-05 | 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 |
1/6955 | 7.0e-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 |
2/7607 | 0.00013 | 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 |
89/6955 | 0.0064 | 1 | Likely pathogenic | |
| View | 22 | 18908937 | 18908937 | C > G | PRODH PRODH |
ENST00000357068.6:c.930-1G>C ENST00000334029.2:c.606-1G>C |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 21096950 | 21096950 | G > A | PI4KA |
NM_058004.3:c.3559C>T |
NP_477352.3:p.Gln1187Ter |
1/6955 | 7.0e-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 |
1/6955 | 7.0e-05 | 1 | non_synonymous | 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 |
1/6955 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 38129421 | 38129421 | T > C | TRIOBP |
NM_001039141.2:c.4062+2T>C |
2/6955 | 0.00014 | 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 |
5/6955 | 0.00036 | 1 | Likely pathogenic | |
| View | 22 | 42457056 | 42457056 | C > T | NAGA |
NM_000262.2:c.973G>A |
NP_000253.1:p.Glu325Lys |
56/6955 | 0.0041 | 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 |
2/8745 | 0.00011 | 1 | Likely pathogenic | |
| View | 22 | 51123083 | 51123083 | A > G | SHANK3 |
ENST00000262795.3:c.1030+4A>G |
1/6955 | 7.0e-05 | 2 | five_prime_flank | 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 |
1/6916 | 7.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 3 | 15683564 | 15683564 | G > A | BTD |
NM_000060.2:c.459G>A |
NP_000051.1:p.Glu153= |
1/8745 | 6.0e-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 |
1/6955 | 7.0e-05 | 1 | 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 |
3/6955 | 0.00022 | 2 | premature_stop | 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 |
2/6955 | 0.00014 | 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 |
25/6916 | 0.00181 | 4 | five_prime_intronic | 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 |
3/8745 | 0.00017 | 2 | acceptor_site | 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 |
3/6955 | 0.00022 | 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 |
1/6955 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 4 | 103586010 | 103586010 | C > A | MANBA |
NM_005908.3:c.1318-1G>T |
3/6955 | 0.00022 | 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 |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 4 | 108852776 | 108852807 | del > - | CYP2U1 |
NM_183075.2:c.-24_8del |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 4 | 123855729 | 123855731 | CAA > - | SPATA5 |
NM_145207.2:c.989_991del |
NP_660208.2:p.Thr330del |
3/6916 | 0.00022 | 1 | Likely pathogenic | |
| View | 4 | 146575151 | 146575152 | - > A | MMAA |
NM_172250.2:c.829dupA |
NP_758454.1:p.Arg277LysfsTer14 |
3/8745 | 0.00017 | 2 | frameshift | Likely pathogenic |
| View | 5 | 37180188 | 37180189 | CA > - | CPLANE1 |
NM_023073.3:c.5667_5668del |
NP_075561.3:p.Asp1890Ter |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 5 | 37201863 | 37201863 | C > A | CPLANE1 |
NM_023073.3:c.3337G>T |
NP_075561.3:p.Glu1113Ter |
2/6955 | 0.00014 | 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 |
2/8745 | 0.00011 | 2 | premature_stop | Likely pathogenic |
| View | 5 | 131705800 | 131705800 | C > T | SLC22A5 |
NM_003060.3:c.136C>T |
NP_003051.1:p.Pro46Ser |
20/8954 | 0.00112 | 1 | 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 |
2/6955 | 0.00014 | 2 | non_synonymous | Likely pathogenic |