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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 16 5128858 5128858 G > T ALG1 NM_019109.4:c.841G>T
NP_061982.3:p.Val281Phe
2/10521 0.0001 1 Pathogenic
View 16 8904955 8904955 C > T PMM2 NM_000303.2:c.367C>T
NP_000294.1:p.Arg123Ter
2/10521 0.0001 1 Pathogenic
View 16 8905010 8905010 G > A PMM2 NM_000303.2:c.422G>A
NP_000294.1:p.Arg141His
85/10521 0.00404 1 Pathogenic
View 16 8905030 8905030 G > A PMM2 NM_000303.2:c.442G>A
NP_000294.1:p.Asp148Asn
4/10521 0.00019 1 Pathogenic
View 16 8941651 8941651 C > T PMM2 NM_000303.2:c.710C>T
NP_000294.1:p.Thr237Met
2/10521 0.0001 1 Pathogenic
View 16 8941663 8941663 G > C PMM2 NM_000303.2:c.722G>C
NP_000294.1:p.Cys241Ser
2/10521 0.0001 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
20/8685 0.00115 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
6/8685 0.00035 1 Pathogenic
View 16 29825255 29825255 G > T PRRT2 PRRT2 ENST00000358758.7:c.879+1G>T
ENST00000567659.1:c.879+1G>T
2/8685 0.00012 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
3/8685 0.00023 1 Pathogenic
View 16 30976205 30976208 CCTA > - SETD1A NM_014712.1:c.1144_1147del
NP_055527.1:p.Tyr382HisfsTer114
1/8646 6.0e-05 1 frameshift 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
1/8685 6.0e-05 1 Pathogenic
View 16 75576496 75576496 T > C TMEM231 TMEM231 TMEM231 NM_001077418.2:c.664+4A>G
NM_001077416.2:c.823+4A>G
NR_074083.1:n.864+4A>G
5/8685 0.00029 1 Pathogenic
View 16 75576539 75576539 C > T TMEM231 TMEM231 TMEM231 NM_001077418.2:c.625G>A
NM_001077416.2:c.784G>A
NR_074083.1:n.825G>A
NP_001070886.1:p.Asp209Asn
NP_001070884.2:p.Asp262Asn
3/8939 0.00017 1 Pathogenic
View 16 78142372 78142372 C > T WWOX WWOX NM_130791.2:c.160C>T
NM_016373.2:c.160C>T
NP_570607.1:p.Arg54Ter
NP_057457.1:p.Arg54Ter
2/8685 0.00012 1 Pathogenic
View 16 88786583 88786583 C > T PIEZO1 NM_001142864.2:c.6058G>A
NP_001136336.2:p.Ala2020Thr
2/8685 0.00012 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
75/8685 0.00432 1 Pathogenic
View 16 89613145 89613145 C > T SPG7 NM_003119.2:c.1529C>T
NP_003110.1:p.Ala510Val
98/9128 0.00542 1 Pathogenic
View 17 3402354 3402354 C > A ASPA ASPA NM_000049.2:c.914C>A
NM_001128085.1:c.914C>A
NP_000040.1:p.Ala305Glu
NP_001121557.1:p.Ala305Glu
9/10521 0.00043 1 Pathogenic
View 17 4802680 4802680 C > G CHRNE NM_000080.3:c.1033-1G>C
2/8685 0.00012 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
5/10521 0.00029 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
37/10521 0.00181 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
3/10521 0.00014 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
1/10521 5.0e-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?
3/10521 0.00014 1 Pathogenic
View 17 10310241 10310241 C > T MYH8 NM_002472.2:c.2021G>A
NP_002463.2:p.Arg674Gln
1/8685 6.0e-05 1 Pathogenic
View 17 16220000 16220000 T > C PIGL NM_004278.3:c.500T>C
NP_004269.1:p.Leu167Pro
18/8685 0.00104 1 Pathogenic
View 17 29556993 29556993 G > A NF1 NF1 NM_000267.3:c.2990+1G>A
NM_001042492.2:c.2990+1G>A
2/8685 0.00012 1 Pathogenic
View 17 29560133 29560133 C > T NF1 NF1 NM_000267.3:c.3610C>T
NM_001042492.2:c.3610C>T
NP_000258.1:p.Arg1204Trp
NP_001035957.1:p.Arg1204Trp
2/8685 0.00012 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
1/8685 6.0e-05 1 Pathogenic
View 17 29661945 29661945 C > T NF1 NF1 NM_000267.3:c.5839C>T
NM_001042492.2:c.5902C>T
NP_000258.1:p.Arg1947Ter
NP_001035957.1:p.Arg1968Ter
1/8685 6.0e-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
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 17 33902992 33902993 AG > - PEX12 NM_000286.2:c.888_889del
NP_000277.1:p.Leu297ThrfsTer12
4/10521 0.00019 1 Pathogenic
View 17 39975558 39975559 - > C FKBP10 NM_021939.3:c.831dupC
NP_068758.3:p.Gly278ArgfsTer95
4/8685 0.00023 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
3/8685 0.00017 1 Pathogenic
View 17 41053082 41053082 G > A G6PC G6PC NM_000151.3:c.189G>A
NM_001270397.1:c.189G>A
NP_000142.2:p.Trp63Ter
NP_001257326.1:p.Trp63Ter
2/9384 0.00011 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
3/9384 0.00021 1 Pathogenic
View 17 42332640 42332640 C > T SLC4A1 NM_000342.3:c.1825G>A
NP_000333.1:p.Gly609Arg
1/8685 6.0e-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
12/8685 0.00069 1 Pathogenic
View 17 61560855 61560855 C > T ACE NM_000789.3:c.1522C>T
NP_000780.1:p.Arg508Ter
5/9128 0.00027 1 Pathogenic
View 17 73518081 73518081 G > T TSEN54 NM_207346.2:c.919G>T
NP_997229.2:p.Ala307Ser
24/10521 0.00114 1 Pathogenic
View 17 73831491 73831491 T > C UNC13D NM_199242.2:c.1847A>G
NP_954712.1:p.Glu616Gly
3/10521 0.00019 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
100/10482 0.00501 1 Pathogenic
View 17 78187614 78187614 C > T SGSH NM_000199.3:c.734G>A
NP_000190.1:p.Arg245His
16/10521 0.00076 1 Pathogenic
View 17 78187673 78187673 G > C SGSH NM_000199.3:c.675C>G
NP_000190.1:p.Phe225Leu
1/10521 5.0e-05 1 Pathogenic
View 18 11881049 11881049 T > C GNAL GNAL GNAL GNAL NM_001142339.2:c.1061T>C
NM_182978.3:c.1292T>C
NM_001261443.1:c.1061T>C
NM_001261444.1:c.440T>C
NP_001135811.1:p.Val354Ala
NP_892023.1:p.Val431Ala
NP_001248372.1:p.Val354Ala
NP_001248373.1:p.Val147Ala
2/8685 0.00012 1 Pathogenic
View 18 48604664 48604664 C > T SMAD4 NM_005359.5:c.1486C>T
NP_005350.1:p.Arg496Cys
1/8685 6.0e-05 1 Pathogenic
View 18 57147460 57147460 A > T CCBE1 NM_133459.3:c.223T>A
NP_597716.1:p.Cys75Ser
1/8685 0.00012 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
1/8685 6.0e-05 1 Pathogenic
View 18 59828406 59828406 C > A PIGN PIGN NM_012327.5:c.181G>T
NM_176787.4:c.181G>T
NP_036459.1:p.Glu61Ter
NP_789744.1:p.Glu61Ter
2/8685 0.00012 1 Pathogenic
Displaying 200 through 250 of 521 variants