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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 |