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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 15 89865980 89865980 G > A POLG POLG NM_001126131.1:c.2419C>T
NM_002693.2:c.2419C>T
NP_001119603.1:p.Arg807Cys
NP_002684.1:p.Arg807Cys
2/8745 0.00011 1 Pathogenic
View 15 89866691 89866691 C > G POLG POLG NM_001126131.1:c.2209G>C
NM_002693.2:c.2209G>C
NP_001119603.1:p.Gly737Arg
NP_002684.1:p.Gly737Arg
23/8745 0.00132 1 Pathogenic
View 15 89868870 89868870 G > A POLG POLG NM_001126131.1:c.1760C>T
NM_002693.2:c.1760C>T
NP_001119603.1:p.Pro587Leu
NP_002684.1:p.Pro587Leu
43/8745 0.00246 1 Pathogenic
View 16 1570005 1570006 - > C IFT140 NM_014714.3:c.3916dupG
NP_055529.2:p.Ala1306GlyfsTer56
1/6955 7.0e-05 1 Pathogenic
View 16 1823027 1823027 G > A MRPS34 NM_023936.1:c.94C>T
NP_076425.1:p.Gln32Ter
24/6916 0.00181 1 Pathogenic
View 16 2034416 2034416 C > - GFER NM_005262.2:c.199del
NP_005253.3:p.Arg67GlyfsTer83
2/6955 0.00014 1 ClinVar pathogenic variant Pathogenic
View 16 2134717 2134717 G > A TSC2 TSC2 TSC2 NM_000548.3:c.4493+1G>A
NM_001114382.1:c.4424+1G>A
NM_001077183.1:c.4292+1G>A
1/6955 7.0e-05 1 Pathogenic
View 16 2367764 2367764 T > A ABCA3 ENST00000301732.5:c.875A>T
ENSP00000301732.5:p.Glu292Val
77/8745 0.0044 1 Pathogenic
View 16 3293310 3293310 A > G MEFV MEFV ENST00000219596.1:c.2177T>C
ENST00000541159.1:c.*381T>C
ENSP00000219596.1:p.Val726Ala
17/8745 0.00109 1 Pathogenic
View 16 3293405 3293405 C > T MEFV MEFV ENST00000219596.1:c.2082G>A
ENST00000541159.1:c.*286G>A
ENSP00000219596.1:p.Met694Ile
2/8745 0.00011 1 Pathogenic
View 16 3293407 3293407 T > C MEFV MEFV ENST00000219596.1:c.2080A>G
ENST00000541159.1:c.*284A>G
ENSP00000219596.1:p.Met694Val
9/8745 0.00051 1 Pathogenic
View 16 3808883 3808883 G > - CREBBP CREBBP NM_001079846.1:c.3227del
NM_004380.2:c.3341del
NP_001073315.1:p.Pro1076LeufsTer2
NP_004371.2:p.Pro1114LeufsTer2
1/6955 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 16 5128790 5128790 C > T ALG1 NM_019109.4:c.773C>T
NP_061982.3:p.Ser258Leu
17/8745 0.00097 1 Pathogenic
View 16 5128858 5128858 G > T ALG1 NM_019109.4:c.841G>T
NP_061982.3:p.Val281Phe
2/8745 0.00011 1 Pathogenic
View 16 8905010 8905010 G > A PMM2 NM_000303.2:c.422G>A
NP_000294.1:p.Arg141His
74/8745 0.00423 1 Pathogenic
View 16 8905030 8905030 G > A PMM2 NM_000303.2:c.442G>A
NP_000294.1:p.Asp148Asn
4/8745 0.00023 1 Pathogenic
View 16 8941651 8941651 C > T PMM2 NM_000303.2:c.710C>T
NP_000294.1:p.Thr237Met
2/8745 0.00011 1 Pathogenic
View 16 8941663 8941663 G > C PMM2 NM_000303.2:c.722G>C
NP_000294.1:p.Cys241Ser
2/8745 0.00011 1 Pathogenic
View 16 29825015 29825016 - > C PRRT2 PRRT2 ENST00000358758.7:c.649dupC
ENST00000567659.1:c.649dupC
ENSP00000351608.7:p.Arg217ProfsTer8
ENSP00000456226.1:p.Arg217ProfsTer8
17/6955 0.00122 1 Pathogenic
View 16 29825016 29825017 - > C PRRT2 PRRT2 ENST00000358758.7:c.649dupC
ENST00000567659.1:c.649dupC
ENSP00000351608.7:p.Arg217ProfsTer8
ENSP00000456226.1:p.Arg217ProfsTer8
5/6955 0.00036 1 Pathogenic
View 16 29825255 29825255 G > T PRRT2 PRRT2 ENST00000358758.7:c.879+1G>T
ENST00000567659.1:c.879+1G>T
2/6955 0.00014 1 Pathogenic
View 16 30764753 30764753 T > C PHKG2 PHKG2 NM_000294.2:c.431T>C
NM_001172432.1:c.431T>C
NP_000285.1:p.Leu144Pro
NP_001165903.1:p.Leu144Pro
3/6955 0.00029 1 Pathogenic
View 16 56370674 56370674 C > T GNAO1 GNAO1 NM_138736.2:c.625C>T
NM_020988.2:c.625C>T
NP_620073.2:p.Arg209Cys
NP_066268.1:p.Arg209Cys
1/6955 7.0e-05 1 Pathogenic
View 16 88786583 88786583 C > T PIEZO1 NM_001142864.2:c.6058G>A
NP_001136336.2:p.Ala2020Thr
2/6955 0.00014 1 Pathogenic
View 16 89220556 89220556 C > T ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 NR_023316.2:n.1190C>T
NM_174917.3:c.1672C>T
NM_001127214.2:c.1672C>T
NR_045666.1:n.2102C>T
NR_045667.1:n.798C>T
NM_001243279.1:c.1672C>T
NP_777577.2:p.Arg558Trp
NP_001120686.1:p.Arg558Trp
NP_001230208.1:p.Arg558Trp
56/6955 0.00403 1 Pathogenic
View 16 89613145 89613145 C > T SPG7 NM_003119.2:c.1529C>T
NP_003110.1:p.Ala510Val
78/7355 0.00537 1 Pathogenic
View 17 4802680 4802680 C > G CHRNE NM_000080.3:c.1033-1G>C
2/6955 0.00014 1 Pathogenic
View 17 7124264 7124264 A > G ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.298A>G
NM_001270447.1:c.433A>G
NM_001270448.1:c.136A>G
NM_000018.3:c.364A>G
NP_001029031.1:p.Asn100Asp
NP_001257376.1:p.Asn145Asp
NP_001257377.1:p.Asn46Asp
NP_000009.1:p.Asn122Asp
2/8745 0.00017 1 Pathogenic
View 17 7125591 7125591 T > C ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.782T>C
NM_001270447.1:c.917T>C
NM_001270448.1:c.620T>C
NM_000018.3:c.848T>C
NP_001029031.1:p.Val261Ala
NP_001257376.1:p.Val306Ala
NP_001257377.1:p.Val207Ala
NP_000009.1:p.Val283Ala
34/8745 0.002 1 Pathogenic
View 17 7126470 7126470 C > T ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.1030C>T
NM_001270447.1:c.1165C>T
NM_001270448.1:c.868C>T
NM_000018.3:c.1096C>T
NP_001029031.1:p.Arg344Cys
NP_001257376.1:p.Arg389Cys
NP_001257377.1:p.Arg290Cys
NP_000009.1:p.Arg366Cys
3/8745 0.00017 1 Pathogenic
View 17 7127184 7127184 G > A ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.1256G>A
NM_001270447.1:c.1391G>A
NM_001270448.1:c.1094G>A
NM_000018.3:c.1322G>A
NP_001029031.1:p.Gly419Asp
NP_001257376.1:p.Gly464Asp
NP_001257377.1:p.Gly365Asp
NP_000009.1:p.Gly441Asp
1/8745 6.0e-05 1 Pathogenic
View 17 7487182 7487182 T > C MPDU1 MPDU1 NR_024603.1:n.218T>C
NM_004870.3:c.2T>C
NP_004861.2:p.Met1?
3/8745 0.00017 1 Pathogenic
View 17 10310241 10310241 C > T MYH8 NM_002472.2:c.2021G>A
NP_002463.2:p.Arg674Gln
1/6955 7.0e-05 1 Pathogenic
View 17 16220000 16220000 T > C PIGL NM_004278.3:c.500T>C
NP_004269.1:p.Leu167Pro
15/6955 0.00108 1 Pathogenic
View 17 29562747 29562747 G > A NF1 NF1 NM_000267.3:c.3827G>A
NM_001042492.2:c.3827G>A
NP_000258.1:p.Arg1276Gln
NP_001035957.1:p.Arg1276Gln
1/6955 7.0e-05 1 Pathogenic
View 17 29665814 29665818 TCTTA > - NF1 NF1 NM_000267.3:c.6849_6853del
NM_001042492.2:c.6912_6916del
NP_000258.1:p.Leu2284Ter
NP_001035957.1:p.Leu2305Ter
1/6955 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 17 33902992 33902993 AG > - PEX12 NM_000286.2:c.888_889del
NP_000277.1:p.Leu297ThrfsTer12
4/8745 0.00023 1 Pathogenic
View 17 39975558 39975559 - > C FKBP10 NM_021939.3:c.831dupC
NP_068758.3:p.Gly278ArgfsTer95
3/6955 0.00022 1 Pathogenic
View 17 40468917 40468917 G > A STAT3 STAT3 STAT3 NM_213662.1:c.2145-48C>T
NM_003150.3:c.2144C>T
NM_139276.2:c.2147C>T
NP_003141.2:p.Thr715Met
NP_644805.1:p.Thr716Met
3/6955 0.00022 1 Pathogenic
View 17 41059575 41059576 - > TA G6PC G6PC NM_000151.3:c.379_380dupTA
NM_001270397.1:c.341-39_341-38dupTA
NP_000142.2:p.Tyr128ThrfsTer3
3/7607 0.00026 1 Pathogenic
View 17 42332640 42332640 C > T SLC4A1 NM_000342.3:c.1825G>A
NP_000333.1:p.Gly609Arg
1/6955 7.0e-05 1 Pathogenic
View 17 48245014 48245014 C > T SGCA SGCA NM_001135697.1:c.229C>T
NM_000023.2:c.229C>T
NP_001129169.1:p.Arg77Cys
NP_000014.1:p.Arg77Cys
10/6955 0.00072 1 Pathogenic
View 17 61560855 61560855 C > T ACE NM_000789.3:c.1522C>T
NP_000780.1:p.Arg508Ter
5/7355 0.00034 1 Pathogenic
View 17 73518081 73518081 G > T TSEN54 NM_207346.2:c.919G>T
NP_997229.2:p.Ala307Ser
20/8745 0.00114 1 Pathogenic
View 17 73831491 73831491 T > C UNC13D NM_199242.2:c.1847A>G
NP_954712.1:p.Glu616Gly
3/8745 0.00023 1 Pathogenic
View 17 78078341 78078341 T > G GAA GAA GAA NM_000152.3:c.-32-13T>G
NM_001079804.1:c.-32-13T>G
NM_001079803.1:c.-32-13T>G
83/8706 0.005 1 Pathogenic
View 17 78187614 78187614 C > T SGSH NM_000199.3:c.734G>A
NP_000190.1:p.Arg245His
14/8745 0.0008 1 Pathogenic
View 17 78187673 78187673 G > C SGSH NM_000199.3:c.675C>G
NP_000190.1:p.Phe225Leu
1/8745 6.0e-05 1 Pathogenic
View 18 57147460 57147460 A > T CCBE1 NM_133459.3:c.223T>A
NP_597716.1:p.Cys75Ser
1/6955 0.00014 1 Pathogenic
View 18 59824980 59824980 G > A PIGN PIGN NM_012327.5:c.283C>T
NM_176787.4:c.283C>T
NP_036459.1:p.Arg95Trp
NP_789744.1:p.Arg95Trp
1/6955 7.0e-05 1 Pathogenic
Displaying 150 through 200 of 428 variants