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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 14 | 58899157 | 58899157 | G > - | KIAA0586 |
NM_014749.3:c.392del NM_001244191.1:c.137del NM_001244190.1:c.347del NM_001244192.1:c.137del NM_001244189.1:c.428del |
NP_055564.3:p.Arg131LysfsTer4 NP_001231120.1:p.Arg46LysfsTer4 NP_001231119.1:p.Arg116LysfsTer4 NP_001231121.1:p.Arg46LysfsTer4 NP_001231118.1:p.Arg143LysfsTer4 |
40/5101 | 0.00402 | 1 | Pathogenic | |
| View | 14 | 76429687 | 76429687 | G > A | TGFB3 |
NM_003239.2:c.898C>T |
NP_003230.1:p.Arg300Trp |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 88452926 | 88452926 | T > C | GALC |
ENST00000393568.4:c.280A>G ENST00000393569.2:c.271A>G ENST00000261304.2:c.349A>G |
ENSP00000377198.4:p.Met94Val ENSP00000377199.2:p.Met91Val ENSP00000261304.2:p.Met117Val |
1/6913 | 7.0e-05 | 1 | Pathogenic | |
| View | 15 | 40707653 | 40707653 | C > T | IVD |
NM_001159508.1:c.851C>T NM_002225.3:c.941C>T |
NP_001152980.1:p.Ala284Val NP_002216.2:p.Ala314Val |
18/6913 | 0.0013 | 1 | Pathogenic | |
| View | 15 | 43695895 | 43695895 | G > T | TUBGCP4 |
NM_014444.2:c.1746G>T |
NM_014444.2:c.1746G>T(p.%3D) |
7/5119 | 0.00068 | 1 | Pathogenic | |
| View | 15 | 45393426 | 45393429 | GAAC > - | DUOX2 |
NM_014080.4:c.2895_2898del |
NP_054799.4:p.Phe966SerfsTer29 |
19/5119 | 0.00186 | 1 | Pathogenic | |
| View | 15 | 48779298 | 48779298 | G > T | FBN1 |
ENST00000316623.5:c.3563C>A |
ENSP00000325527.5:p.Ser1188Ter |
1/5119 | 0.0001 | 1 | premature_stop | Pathogenic |
| View | 15 | 48782159 | 48782166 | CAGTACCC > - | FBN1 |
ENST00000316623.5:c.2964_2971del |
ENSP00000325527.5:p.Trp988Ter |
2/5119 | 0.0002 | 1 | Pathogenic | |
| View | 15 | 48800830 | 48800830 | A > C | FBN1 |
ENST00000316623.5:c.1786T>G |
ENSP00000325527.5:p.Cys596Gly |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 15 | 57554311 | 57554312 | - > CT | TCF12 |
NM_207037.1:c.1490_1491dupCT NM_207036.1:c.1490_1491dupCT NM_207040.1:c.908_909dupCT NM_003205.3:c.1418_1419dupCT NM_207038.1:c.1418_1419dupCT |
NP_996920.1:p.Val498LeufsTer22 NP_996919.1:p.Val498LeufsTer22 NP_996923.1:p.Val304LeufsTer22 NP_003196.1:p.Val474LeufsTer22 NP_996921.1:p.Val474LeufsTer22 |
1/5119 | 0.0001 | 1 | frameshift | Pathogenic |
| View | 15 | 65313871 | 65313871 | G > A | MTFMT |
NM_139242.3:c.626C>T |
NP_640335.2:p.Ser209Leu |
13/5119 | 0.00127 | 1 | Pathogenic | |
| View | 15 | 72638920 | 72638921 | - > GATA | HEXA |
NM_000520.4:c.1274_1277dupTATC |
NP_000511.2:p.Tyr427IlefsTer5 |
6/6913 | 0.00051 | 1 | Pathogenic | |
| View | 15 | 85186950 | 85186950 | A > - | WDR73 |
NM_032856.2:c.888del |
NP_116245.2:p.Phe296LeufsTer26 |
3/5119 | 0.00039 | 1 | Pathogenic | |
| View | 15 | 89862296 | 89862296 | G > A | POLG |
NM_002693.2:c.3139C>T NM_001126131.1:c.3139C>T |
NP_002684.1:p.Arg1047Trp NP_001119603.1:p.Arg1047Trp |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 15 | 89865023 | 89865023 | C > T | POLG |
NM_002693.2:c.2542G>A NM_001126131.1:c.2542G>A |
NP_002684.1:p.Gly848Ser NP_001119603.1:p.Gly848Ser |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 15 | 89866691 | 89866691 | C > G | POLG |
NM_002693.2:c.2209G>C NM_001126131.1:c.2209G>C |
NP_002684.1:p.Gly737Arg NP_001119603.1:p.Gly737Arg |
17/6913 | 0.00123 | 1 | Pathogenic | |
| View | 15 | 89868870 | 89868870 | G > A | POLG |
NM_002693.2:c.1760C>T NM_001126131.1:c.1760C>T |
NP_002684.1:p.Pro587Leu NP_001119603.1:p.Pro587Leu |
38/6913 | 0.00275 | 1 | Pathogenic | |
| View | 16 | 2134717 | 2134717 | G > A | TSC2 |
NM_001077183.1:c.4292+1G>A NM_001114382.1:c.4424+1G>A NM_000548.3:c.4493+1G>A |
1/5119 | 0.0001 | 1 | donor_site | Pathogenic | |
| View | 16 | 2367764 | 2367764 | T > A | ABCA3 |
ENST00000301732.5:c.875A>T |
ENSP00000301732.5:p.Glu292Val |
62/6913 | 0.00448 | 1 | Pathogenic | |
| View | 16 | 3293310 | 3293310 | A > G | MEFV |
ENST00000219596.1:c.2177T>C ENST00000541159.1:c.*381T>C |
ENSP00000219596.1:p.Val726Ala |
18/6913 | 0.00145 | 1 | Pathogenic | |
| View | 16 | 3293405 | 3293405 | C > T | MEFV |
ENST00000219596.1:c.2082G>A ENST00000541159.1:c.*286G>A |
ENSP00000219596.1:p.Met694Ile |
1/6913 | 7.0e-05 | 1 | Pathogenic | |
| View | 16 | 3293407 | 3293407 | T > C | MEFV |
ENST00000219596.1:c.2080A>G ENST00000541159.1:c.*284A>G |
ENSP00000219596.1:p.Met694Val |
6/6913 | 0.00043 | 1 | Pathogenic | |
| View | 16 | 3808883 | 3808883 | G > - | CREBBP |
NM_004380.2:c.3341del NM_001079846.1:c.3227del |
NP_004371.2:p.Pro1114LeufsTer2 NP_001073315.1:p.Pro1076LeufsTer2 |
1/5119 | 0.0001 | 2 | frameshift | Pathogenic |
| View | 16 | 5128790 | 5128790 | C > T | ALG1 |
NM_019109.4:c.773C>T |
NP_061982.3:p.Ser258Leu |
17/6913 | 0.00123 | 1 | Pathogenic | |
| View | 16 | 8905010 | 8905010 | G > A | PMM2 |
NM_000303.2:c.422G>A |
NP_000294.1:p.Arg141His |
60/6913 | 0.00434 | 1 | Pathogenic | |
| View | 16 | 8941663 | 8941663 | G > C | PMM2 |
NM_000303.2:c.722G>C |
NP_000294.1:p.Cys241Ser |
2/6913 | 0.00014 | 1 | Pathogenic | |
| View | 16 | 29825015 | 29825016 | - > C | PRRT2 |
ENST00000358758.7:c.649dupC ENST00000300797.6:c.649dupC ENST00000567659.1:c.649dupC |
ENSP00000351608.7:p.Arg217ProfsTer8 ENSP00000300797.6:p.Arg217ProfsTer8 ENSP00000456226.1:p.Arg217ProfsTer8 |
10/5119 | 0.00098 | 1 | Pathogenic | |
| View | 16 | 88786583 | 88786583 | C > T | PIEZO1 |
NM_001142864.2:c.6058G>A |
NP_001136336.2:p.Ala2020Thr |
2/5119 | 0.0002 | 1 | Pathogenic | |
| View | 16 | 89220556 | 89220556 | C > T | ACSF3 |
NR_045666.1:n.2102C>T NR_023316.2:n.1190C>T NM_001243279.1:c.1672C>T NM_001127214.2:c.1672C>T NR_045667.1:n.798C>T NM_174917.3:c.1672C>T |
NP_001230208.1:p.Arg558Trp NP_001120686.1:p.Arg558Trp NP_777577.2:p.Arg558Trp |
41/5119 | 0.004 | 1 | Pathogenic | |
| View | 17 | 4802680 | 4802680 | C > G | CHRNE |
NM_000080.3:c.1033-1G>C |
2/5119 | 0.0002 | 1 | Pathogenic | ||
| View | 17 | 7124264 | 7124264 | A > G | ACADVL |
NM_000018.3:c.364A>G NM_001270448.1:c.136A>G NM_001033859.2:c.298A>G NM_001270447.1:c.433A>G |
NP_000009.1:p.Asn122Asp NP_001257377.1:p.Asn46Asp NP_001029031.1:p.Asn100Asp NP_001257376.1:p.Asn145Asp |
2/6913 | 0.00022 | 1 | Pathogenic | |
| View | 17 | 7125591 | 7125591 | T > C | ACADVL |
NM_000018.3:c.848T>C NM_001270448.1:c.620T>C NM_001033859.2:c.782T>C NM_001270447.1:c.917T>C |
NP_000009.1:p.Val283Ala NP_001257377.1:p.Val207Ala NP_001029031.1:p.Val261Ala NP_001257376.1:p.Val306Ala |
27/6913 | 0.00203 | 1 | Pathogenic | |
| View | 17 | 7126470 | 7126470 | C > T | ACADVL |
NM_000018.3:c.1096C>T NM_001270448.1:c.868C>T NM_001033859.2:c.1030C>T NM_001270447.1:c.1165C>T |
NP_000009.1:p.Arg366Cys NP_001257377.1:p.Arg290Cys NP_001029031.1:p.Arg344Cys NP_001257376.1:p.Arg389Cys |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 17 | 7127184 | 7127184 | G > A | ACADVL |
NM_000018.3:c.1322G>A NM_001270448.1:c.1094G>A NM_001033859.2:c.1256G>A NM_001270447.1:c.1391G>A |
NP_000009.1:p.Gly441Asp NP_001257377.1:p.Gly365Asp NP_001029031.1:p.Gly419Asp NP_001257376.1:p.Gly464Asp |
1/6913 | 7.0e-05 | 1 | Pathogenic | |
| View | 17 | 10310241 | 10310241 | C > T | MYH8 |
NM_002472.2:c.2021G>A |
NP_002463.2:p.Arg674Gln |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 17 | 16220000 | 16220000 | T > C | PIGL |
NM_004278.3:c.500T>C |
NP_004269.1:p.Leu167Pro |
9/5119 | 0.00088 | 1 | Pathogenic | |
| View | 17 | 29562747 | 29562747 | G > A | NF1 |
NM_000267.3:c.3827G>A NM_001042492.2:c.3827G>A |
NP_000258.1:p.Arg1276Gln NP_001035957.1:p.Arg1276Gln |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 17 | 29665814 | 29665818 | TCTTA > - | NF1 |
NM_000267.3:c.6849_6853del NM_001042492.2:c.6912_6916del |
NP_000258.1:p.Leu2284Ter NP_001035957.1:p.Leu2305Ter |
1/5119 | 0.0001 | 1 | frameshift | Pathogenic |
| View | 17 | 33902992 | 33902993 | AG > - | PEX12 |
NM_000286.2:c.888_889del |
NP_000277.1:p.Leu297ThrfsTer12 |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 17 | 39975558 | 39975559 | - > C | FKBP10 |
NM_021939.3:c.831dupC |
NP_068758.3:p.Gly278ArgfsTer95 |
2/5119 | 0.0002 | 1 | Pathogenic | |
| View | 17 | 40468917 | 40468917 | G > A | STAT3 |
NM_213662.1:c.2145-48C>T NM_139276.2:c.2147C>T NM_003150.3:c.2144C>T |
NP_644805.1:p.Thr716Met NP_003141.2:p.Thr715Met |
3/5119 | 0.00029 | 1 | Pathogenic | |
| View | 17 | 41059575 | 41059576 | - > TA | G6PC |
NM_000151.3:c.379_380dupTA NM_001270397.1:c.341-39_341-38dupTA |
NP_000142.2:p.Tyr128ThrfsTer3 |
3/5771 | 0.00035 | 1 | Pathogenic | |
| View | 17 | 42332640 | 42332640 | C > T | SLC4A1 |
NM_000342.3:c.1825G>A |
NP_000333.1:p.Gly609Arg |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 17 | 48245014 | 48245014 | C > T | SGCA |
NM_001135697.1:c.229C>T NM_000023.2:c.229C>T |
NP_001129169.1:p.Arg77Cys NP_000014.1:p.Arg77Cys |
10/5119 | 0.00098 | 1 | Pathogenic | |
| View | 17 | 61560855 | 61560855 | C > T | ACE |
NM_000789.3:c.1522C>T |
NP_000780.1:p.Arg508Ter |
4/5400 | 0.00037 | 1 | Pathogenic | |
| View | 17 | 73518081 | 73518081 | G > T | TSEN54 |
NM_207346.2:c.919G>T |
NP_997229.2:p.Ala307Ser |
16/6913 | 0.00116 | 1 | Pathogenic | |
| View | 17 | 73831491 | 73831491 | T > C | UNC13D |
NM_199242.2:c.1847A>G |
NP_954712.1:p.Glu616Gly |
3/6913 | 0.00029 | 1 | Pathogenic | |
| View | 17 | 78078341 | 78078341 | T > G | GAA |
NM_001079804.1:c.-32-13T>G NM_001079803.1:c.-32-13T>G NM_000152.3:c.-32-13T>G |
67/6895 | 0.00486 | 1 | Pathogenic | ||
| View | 17 | 78187614 | 78187614 | C > T | SGSH |
NM_000199.3:c.734G>A |
NP_000190.1:p.Arg245His |
13/6913 | 0.00094 | 1 | Pathogenic | |
| View | 17 | 78187673 | 78187673 | G > C | SGSH |
NM_000199.3:c.675C>G |
NP_000190.1:p.Phe225Leu |
1/6913 | 7.0e-05 | 1 | Pathogenic |