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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 89862296 89862296 G > A POLG POLG NM_001126131.1:c.3139C>T
NM_002693.2:c.3139C>T
NP_001119603.1:p.Arg1047Trp
NP_002684.1:p.Arg1047Trp
5/11422 0.00022 1 Pathogenic
View 15 89864238 89864238 T > G POLG POLG NM_001126131.1:c.2740A>C
NM_002693.2:c.2740A>C
NP_001119603.1:p.Thr914Pro
NP_002684.1:p.Thr914Pro
4/11422 0.00018 1 Pathogenic
View 15 89865011 89865011 G > A POLG POLG NM_001126131.1:c.2554C>T
NM_002693.2:c.2554C>T
NP_001119603.1:p.Arg852Cys
NP_002684.1:p.Arg852Cys
3/11422 0.00013 1 Pathogenic
View 15 89865023 89865023 C > T POLG POLG NM_001126131.1:c.2542G>A
NM_002693.2:c.2542G>A
NP_001119603.1:p.Gly848Ser
NP_002684.1:p.Gly848Ser
5/11422 0.00022 1 Pathogenic
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
2/11422 9.0e-05 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
28/11422 0.00123 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
49/11422 0.00214 1 Pathogenic
View 15 89870432 89870432 C > T POLG POLG NM_001126131.1:c.1399G>A
NM_002693.2:c.1399G>A
NP_001119603.1:p.Ala467Thr
NP_002684.1:p.Ala467Thr
18/11422 0.00079 1 Pathogenic
View 16 1550445 1550445 G > T TELO2 NM_016111.3:c.1100G>T
NP_057195.2:p.Cys367Phe
10/9594 0.00052 1 Pathogenic
View 16 1570005 1570006 - > C IFT140 NM_014714.3:c.3916dupG
NP_055529.2:p.Ala1306GlyfsTer56
1/9594 5.0e-05 1 Pathogenic
View 16 1823027 1823027 G > A MRPS34 NM_023936.1:c.94C>T
NP_076425.1:p.Gln32Ter
32/9555 0.00173 1 Pathogenic
View 16 2034416 2034416 C > - GFER NM_005262.2:c.199del
NP_005253.3:p.Arg67GlyfsTer83
2/9594 0.0001 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
1/9594 5.0e-05 1 Pathogenic
View 16 2367764 2367764 T > A ABCA3 ENST00000301732.5:c.875A>T
ENSP00000301732.5:p.Glu292Val
104/11422 0.00455 1 Pathogenic
View 16 3076141 3076141 T > A THOC6 THOC6 NM_024339.3:c.298T>A
NM_001142350.1:c.298T>A
NP_077315.2:p.Trp100Arg
NP_001135822.1:p.Trp100Arg
21/9594 0.00109 1 Pathogenic
View 16 3077380 3077380 G > A THOC6 THOC6 NM_024339.3:c.824G>A
NM_001142350.1:c.810+99G>A
NP_077315.2:p.Gly275Asp
21/9594 0.00109 1 Pathogenic
View 16 3293310 3293310 A > G MEFV MEFV ENST00000219596.1:c.2177T>C
ENST00000541159.1:c.*381T>C
ENSP00000219596.1:p.Val726Ala
23/11422 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
3/11422 0.00013 1 Pathogenic
View 16 3293407 3293407 T > C MEFV MEFV ENST00000219596.1:c.2080A>G
ENST00000541159.1:c.*284A>G
ENSP00000219596.1:p.Met694Val
9/11422 0.00039 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
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 16 5128790 5128790 C > T ALG1 NM_019109.4:c.773C>T
NP_061982.3:p.Ser258Leu
22/11422 0.00096 1 Pathogenic
View 16 5128858 5128858 G > T ALG1 NM_019109.4:c.841G>T
NP_061982.3:p.Val281Phe
2/11422 9.0e-05 1 Pathogenic
View 16 8904955 8904955 C > T PMM2 NM_000303.2:c.367C>T
NP_000294.1:p.Arg123Ter
2/11422 9.0e-05 1 Pathogenic
View 16 8905010 8905010 G > A PMM2 NM_000303.2:c.422G>A
NP_000294.1:p.Arg141His
88/11422 0.00385 1 Pathogenic
View 16 8905030 8905030 G > A PMM2 NM_000303.2:c.442G>A
NP_000294.1:p.Asp148Asn
5/11422 0.00022 1 Pathogenic
View 16 8941651 8941651 C > T PMM2 NM_000303.2:c.710C>T
NP_000294.1:p.Thr237Met
2/11422 9.0e-05 1 Pathogenic
View 16 8941663 8941663 G > C PMM2 NM_000303.2:c.722G>C
NP_000294.1:p.Cys241Ser
2/11422 9.0e-05 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
21/9594 0.00109 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
6/9594 0.00031 1 Pathogenic
View 16 29825255 29825255 G > T PRRT2 PRRT2 ENST00000358758.7:c.879+1G>T
ENST00000567659.1:c.879+1G>T
2/9594 0.0001 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
3/9594 0.00021 1 Pathogenic
View 16 30976205 30976208 CCTA > - SETD1A NM_014712.1:c.1144_1147del
NP_055527.1:p.Tyr382HisfsTer114
1/9555 5.0e-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
1/9594 5.0e-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
6/9594 0.00031 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
3/9939 0.00015 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
2/9594 0.0001 1 Pathogenic
View 16 83940623 83940623 C > G MLYCD NM_012213.2:c.560C>G
NP_036345.2:p.Ser187Ter
5/9594 0.00026 1 Pathogenic
View 16 88786583 88786583 C > T PIEZO1 NM_001142864.2:c.6058G>A
NP_001136336.2:p.Ala2020Thr
2/9594 0.0001 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
82/9594 0.00427 1 Pathogenic
View 16 89346019 89346019 G > A ANKRD11 ANKRD11 ANKRD11 NM_013275.5:c.6931C>T
NM_001256182.1:c.6931C>T
NM_001256183.1:c.6931C>T
NP_037407.4:p.Gln2311Ter
NP_001243111.1:p.Gln2311Ter
NP_001243112.1:p.Gln2311Ter
1/9594 5.0e-05 1 premature_stop Pathogenic
View 16 89613145 89613145 C > T SPG7 NM_003119.2:c.1529C>T
NP_003110.1:p.Ala510Val
101/10128 0.00504 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
9/11422 0.00039 1 Pathogenic
View 17 4802680 4802680 C > G CHRNE NM_000080.3:c.1033-1G>C
2/9594 0.0001 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
5/11422 0.00026 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
40/11422 0.00179 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
3/11422 0.00013 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
1/11422 4.0e-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?
3/11422 0.00013 1 Pathogenic
View 17 10310241 10310241 C > T MYH8 NM_002472.2:c.2021G>A
NP_002463.2:p.Arg674Gln
1/9594 5.0e-05 1 Pathogenic
View 17 16220000 16220000 T > C PIGL NM_004278.3:c.500T>C
NP_004269.1:p.Leu167Pro
22/9594 0.00115 1 Pathogenic
Displaying 200 through 250 of 574 variants