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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
Displaying 100 through 150 of 332 variants