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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 21 | 47545690 | 47545690 | G > A | COL6A2 COL6A2 COL6A2 |
NM_058175.2:c.1970-9G>A NM_001849.3:c.1970-9G>A NM_058174.2:c.1970-9G>A |
2/6865 | 0.00015 | 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 |
74/6213 | 0.00596 | 1 | Likely pathogenic | |
| View | 22 | 18908937 | 18908937 | C > G | PRODH PRODH |
ENST00000357068.6:c.930-1G>C ENST00000334029.2:c.606-1G>C |
2/6213 | 0.00016 | 2 | acceptor_site | Likely pathogenic | |
| View | 22 | 20783824 | 20783824 | G > A | SCARF2 SCARF2 |
NM_182895.2:c.1423C>T NM_153334.4:c.1423C>T |
NP_878315.1:p.Arg475Trp NP_699165.2:p.Arg475Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 21096950 | 21096950 | G > A | PI4KA |
NM_058004.3:c.3559C>T |
NP_477352.3:p.Gln1187Ter |
1/6213 | 8.0e-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 |
1/6213 | 8.0e-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 |
1/6213 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 22 | 38129421 | 38129421 | T > C | TRIOBP |
NM_001039141.2:c.4062+2T>C |
2/6213 | 0.00016 | 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 |
5/6213 | 0.0004 | 1 | Likely pathogenic | |
| View | 22 | 51123083 | 51123083 | A > G | SHANK3 |
ENST00000262795.3:c.1030+4A>G |
1/6213 | 8.0e-05 | 2 | five_prime_flank | Likely pathogenic | |
| View | 3 | 9781036 | 9781036 | G > A | BRPF1 BRPF1 |
NM_004634.2:c.953G>A NM_001003694.1:c.953G>A |
NP_004625.2:p.Arg318His NP_001003694.1:p.Arg318His |
1/6174 | 8.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 3 | 15683564 | 15683564 | G > A | BTD |
NM_000060.2:c.459G>A |
NP_000051.1:p.Glu153= |
1/8004 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 3 | 24169140 | 24169140 | C > T | THRB THRB THRB THRB |
NM_001252634.1:c.994G>A NM_001128176.2:c.994G>A NM_000461.4:c.994G>A NM_001128177.1:c.994G>A |
NP_001239563.1:p.Gly332Arg NP_001121648.1:p.Gly332Arg NP_000452.2:p.Gly332Arg NP_001121649.1:p.Gly332Arg |
1/6213 | 8.0e-05 | 1 | Likely pathogenic | |
| View | 3 | 25770719 | 25770719 | G > A | NGLY1 NGLY1 NGLY1 NGLY1 |
NM_001145295.1:c.1516C>T NM_018297.3:c.1516C>T NM_001145294.1:c.1390C>T NM_001145293.1:c.1462C>T |
NP_001138767.1:p.Arg506Ter NP_060767.2:p.Arg506Ter NP_001138766.1:p.Arg464Ter NP_001138765.1:p.Arg488Ter |
3/6213 | 0.00024 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 49059888 | 49059889 | - > A | NDUFAF3 NDUFAF3 NDUFAF3 NDUFAF3 |
NM_199070.1:c.17dupA NM_199073.1:c.17dupA NM_199074.1:c.17dupA NM_199069.1:c.188dupA |
NP_951033.1:p.Tyr6Ter NP_951047.1:p.Tyr6Ter NP_951056.1:p.Tyr6Ter NP_951032.1:p.Tyr63Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 3 | 180706018 | 180706018 | C > T | DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 |
NR_033721.1:n.176-134G>A NR_033722.1:n.176-1G>A NM_145261.3:c.4-1G>A NR_033723.1:n.176-1G>A NR_046073.1:n.175+1370G>A NM_001190233.1:c.-72-1G>A |
3/8004 | 0.00019 | 2 | acceptor_site | Likely pathogenic | |
| View | 4 | 6279306 | 6279306 | C > T | WFS1 WFS1 |
NM_001145853.1:c.124C>T NM_006005.3:c.124C>T |
NP_001139325.1:p.Arg42Ter NP_005996.2:p.Arg42Ter |
2/6213 | 0.00016 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 4 | 15480407 | 15480407 | C > T | CC2D2A CC2D2A CC2D2A |
NM_020785.2:c.100C>T NM_001080522.2:c.100C>T NM_001164720.1:c.100C>T |
NP_065836.2:p.Arg34Ter NP_001073991.2:p.Arg34Ter NP_001158192.1:p.Arg34Ter |
1/6213 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 4 | 103586010 | 103586010 | C > A | MANBA |
NM_005908.3:c.1318-1G>T |
3/6213 | 0.00024 | 2 | acceptor_site | Likely pathogenic | |
| View | 4 | 107157915 | 107157915 | C > T | TBCK TBCK TBCK TBCK |
ENST00000394706.3:c.1103+1G>A ENST00000361687.4:c.1031+1G>A ENST00000394708.2:c.1220+1G>A ENST00000432496.2:c.1220+1G>A |
2/6213 | 0.00016 | 2 | donor_site | Likely pathogenic | |
| View | 4 | 107249367 | 107249371 | GAAAA > - | AIMP1 AIMP1 AIMP1 |
NM_001142415.1:c.362_366del NM_001142416.1:c.434_438del NM_004757.3:c.362_366del |
NP_001135887.1:p.Lys121SerfsTer6 NP_001135888.1:p.Lys145SerfsTer6 NP_004748.2:p.Lys121SerfsTer6 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 4 | 108852776 | 108852807 | del > - | CYP2U1 |
NM_183075.2:c.-24_8del |
2/6213 | 0.00016 | 2 | loss_of_initiation | Likely pathogenic | |
| View | 4 | 113568112 | 113568112 | G > T | LARP7 LARP7 LARP7 LARP7 |
NM_001267039.1:c.573+1G>T NR_049768.1:n.727+1G>T NM_016648.3:c.552+1G>T NM_015454.2:c.552+1G>T |
2/6213 | 0.00016 | 2 | donor_site | Likely pathogenic | |
| View | 4 | 113570753 | 113570754 | - > A | LARP7 LARP7 LARP7 LARP7 |
NM_001267039.1:c.1234dupA NR_049768.1:n.1388dupA NM_016648.3:c.1213dupA NM_015454.2:c.1213dupA |
NP_001253968.1:p.Thr412AsnfsTer26 NP_057732.2:p.Thr405AsnfsTer26 NP_056269.1:p.Thr405AsnfsTer26 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 4 | 123855729 | 123855731 | CAA > - | SPATA5 |
NM_145207.2:c.989_991del |
NP_660208.2:p.Thr330del |
3/6174 | 0.00024 | 1 | Likely pathogenic | |
| View | 4 | 146575151 | 146575152 | - > A | MMAA |
NM_172250.2:c.829dupA |
NP_758454.1:p.Arg277LysfsTer14 |
3/8004 | 0.00019 | 2 | frameshift | Likely pathogenic |
| View | 5 | 37180188 | 37180189 | CA > - | C5orf42 |
NM_023073.3:c.5667_5668del |
NP_075561.3:p.Asp1890Ter |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 5 | 90149131 | 90149131 | T > G | ADGRV1 ADGRV1 |
NR_003149.1:n.17248T>G NM_032119.3:c.17235T>G |
NP_115495.3:p.Tyr5745Ter |
2/8004 | 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 |
20/8223 | 0.00122 | 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 |
2/6213 | 0.00016 | 2 | non_synonymous | Likely pathogenic |
| View | 5 | 176684104 | 176684104 | T > A | NSD1 NSD1 |
NM_022455.4:c.4918T>A NM_172349.2:c.4111T>A |
NP_071900.2:p.Cys1640Ser NP_758859.1:p.Cys1371Ser |
1/6865 | 7.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 6 | 30691372 | 30691372 | C > G | TUBB |
NM_178014.2:c.533C>G |
NP_821133.1:p.Thr178Ser |
1/6213 | 8.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 6 | 42937486 | 42937486 | G > - | PEX6 |
NM_000287.3:c.1287del |
NP_000278.3:p.Trp430GlyfsTer20 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 6 | 74191826 | 74191826 | C > T | MTO1 MTO1 MTO1 |
NM_012123.3:c.1324C>T NM_133645.2:c.1399C>T NM_001123226.1:c.1444C>T |
NP_036255.2:p.Arg442Ter NP_598400.1:p.Arg467Ter NP_001116698.1:p.Arg482Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 6 | 74191932 | 74191932 | G > A | MTO1 MTO1 MTO1 |
NM_012123.3:c.1430G>A NM_133645.2:c.1505G>A NM_001123226.1:c.1550G>A |
NP_036255.2:p.Arg477His NP_598400.1:p.Arg502His NP_001116698.1:p.Arg517His |
2/6213 | 0.00016 | 1 | Likely pathogenic | |
| View | 6 | 86246509 | 86246509 | C > G | SNX14 SNX14 |
NM_020468.3:c.1449+1G>C NM_153816.3:c.1608+1G>C |
4/6213 | 0.00032 | 2 | donor_site | Likely pathogenic | |
| View | 6 | 99323430 | 99323447 | GCTGCTCTGCAGAGTTGG > - | FBXL4 FBXL4 FBXL4 |
NM_001278716.1:c.1546_1563del NM_012160.4:c.1546_1563del NR_103836.1:n.1591_1608del |
NP_001265645.1:p.Pro516_Ser521del NP_036292.2:p.Pro516_Ser521del |
2/6213 | 0.00016 | 1 | Likely pathogenic | |
| View | 6 | 99323549 | 99323549 | G > A | FBXL4 FBXL4 FBXL4 |
NM_001278716.1:c.1444C>T NM_012160.4:c.1444C>T NR_103836.1:n.1489C>T |
NP_001265645.1:p.Arg482Trp NP_036292.2:p.Arg482Trp |
3/6213 | 0.00024 | 1 | Likely pathogenic | |
| View | 6 | 99323552 | 99323553 | - > T | FBXL4 FBXL4 FBXL4 |
NM_001278716.1:c.1440dupA NM_012160.4:c.1440dupA NR_103836.1:n.1485dupA |
NP_001265645.1:p.Leu481ThrfsTer10 NP_036292.2:p.Leu481ThrfsTer10 |
2/6213 | 0.00016 | 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 |
1/6213 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 6 | 121768709 | 121768709 | G > A | GJA1 |
NM_000165.3:c.716G>A |
NP_000156.1:p.Arg239Gln |
1/6213 | 8.0e-05 | 1 | Likely pathogenic | |
| View | 6 | 131923522 | 131923522 | C > T | MED23 MED23 MED23 MED23 |
NM_001270522.1:c.1932-1G>A NM_015979.3:c.1950-1G>A NM_004830.3:c.1932-1G>A NM_001270521.1:c.1932-1G>A |
2/6213 | 0.00016 | 2 | acceptor_site | Likely pathogenic | |
| View | 6 | 132211480 | 132211480 | G > A | ENPP1 |
NM_006208.2:c.2608-1G>A |
1/8004 | 6.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 6 | 152560836 | 152560836 | G > C | SYNE1 SYNE1 |
NM_182961.3:c.19899C>G NM_033071.3:c.19686C>G |
NP_892006.3:p.Tyr6633Ter NP_149062.1:p.Tyr6562Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 6 | 158541464 | 158541464 | G > A | SERAC1 SERAC1 |
NM_032861.3:c.1159C>T NR_073096.1:n.1187C>T |
NP_116250.3:p.Arg387Ter |
1/6213 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 7 | 65546812 | 65546812 | G > A | ASL ASL ASL ASL |
NM_001024946.1:c.35G>A NM_000048.3:c.35G>A NM_001024944.1:c.35G>A NM_001024943.1:c.35G>A |
NP_001020117.1:p.Arg12Gln NP_000039.2:p.Arg12Gln NP_001020115.1:p.Arg12Gln NP_001020114.1:p.Arg12Gln |
31/8004 | 0.00194 | 2 | Likely pathogenic | |
| View | 7 | 97483937 | 97483938 | - > A | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_133436.3:c.1192dupT NM_001673.4:c.1192dupT NM_183356.3:c.1192dupT NM_001178076.1:c.943dupT NM_001178075.1:c.1129dupT NM_001178077.1:c.943dupT |
NP_597680.2:p.Tyr398LeufsTer4 NP_001664.3:p.Tyr398LeufsTer4 NP_899199.2:p.Tyr398LeufsTer4 NP_001171547.1:p.Tyr315LeufsTer4 NP_001171546.1:p.Tyr377LeufsTer4 NP_001171548.1:p.Tyr315LeufsTer4 |
3/6213 | 0.00024 | 2 | frameshift | Likely pathogenic |
| View | 7 | 97488213 | 97488213 | A > G | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_133436.3:c.728T>C NM_001673.4:c.728T>C NM_183356.3:c.728T>C NM_001178076.1:c.479T>C NM_001178075.1:c.665T>C NM_001178077.1:c.479T>C |
NP_597680.2:p.Val243Ala NP_001664.3:p.Val243Ala NP_899199.2:p.Val243Ala NP_001171547.1:p.Val160Ala NP_001171546.1:p.Val222Ala NP_001171548.1:p.Val160Ala |
3/6213 | 0.00024 | 1 | non_synonymous | Likely pathogenic |
| View | 7 | 117149143 | 117149143 | C > T | CFTR |
NM_000492.3:c.220C>T |
NP_000483.3:p.Arg74Trp |
38/8223 | 0.00231 | 1 | Likely pathogenic | |
| View | 7 | 117232470 | 117232470 | C > T | CFTR |
NM_000492.3:c.2249C>T |
NP_000483.3:p.Pro750Leu |
13/8223 | 0.00079 | 1 | Likely pathogenic |