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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 88401223 88401223 C > T GALC GALC ENST00000261304.2:c.1912-1G>A
ENST00000393569.2:c.1834-1G>A
1/11422 4.0e-05 2 acceptor_site Likely pathogenic
View 14 88407758 88407759 - > T GALC GALC ENST00000261304.2:c.1814dupA
ENST00000393569.2:c.1736dupA
ENSP00000261304.2:p.Tyr605Ter
ENSP00000377199.2:p.Tyr579Ter
2/11422 9.0e-05 2 premature_stop Likely pathogenic
View 14 92361405 92361405 A > G FBLN5 NM_006329.3:c.391T>C
NP_006320.2:p.Cys131Arg
3/11422 0.00018 2 non_synonymous Likely pathogenic
View 14 102470854 102470854 G > A DYNC1H1 NM_001376.4:c.4884-1G>A
2/9594 0.0001 2 acceptor_site Likely pathogenic
View 14 105208339 105208344 CGTGAG > - ADSSL1 ADSSL1 NM_199165.1:c.1077_1077+5del
NM_152328.3:c.948_948+5del
1/9555 5.0e-05 2 disruption_of_splicing Likely pathogenic
View 15 40501845 40501845 C > - BUB1B ENST00000287598.6:c.2153del
ENSP00000287598.6:p.Thr718IlefsTer14
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 15 40917591 40917592 - > T KNL1 KNL1 NM_144508.4:c.5130dupT
NM_170589.4:c.5208dupT
NP_653091.3:p.Ile1711TyrfsTer3
NP_733468.3:p.Ile1737TyrfsTer3
5/9594 0.00026 2 frameshift Likely pathogenic
View 15 57526310 57526310 G > A TCF12 TCF12 TCF12 TCF12 TCF12 NM_207040.1:c.525+5G>A
NM_003205.3:c.1035+5G>A
NM_207038.1:c.1035+5G>A
NM_207037.1:c.1035+5G>A
NM_207036.1:c.1035+5G>A
1/9594 5.0e-05 2 five_prime_flank Likely pathogenic
View 15 72978570 72978570 T > C BBS4 BBS4 BBS4 NR_045566.1:n.51T>C
NR_045565.1:n.51T>C
ENST00000268057.4:c.2T>C
ENSP00000268057.4:p.Met1?
2/9594 0.0001 2 loss_of_initiation Likely pathogenic
View 15 89872286 89872286 A > C POLG POLG NM_001126131.1:c.911T>G
NM_002693.2:c.911T>G
NP_001119603.1:p.Leu304Arg
NP_002684.1:p.Leu304Arg
1/11422 4.0e-05 1 Likely pathogenic
View 15 91550240 91550240 C > A VPS33B NM_018668.3:c.640G>T
NP_061138.3:p.Glu214Ter
1/11422 4.0e-05 2 premature_stop Likely pathogenic
View 15 99486226 99486227 - > G IGF1R NM_000875.3:c.3534dupG
NP_000866.1:p.Met1179AspfsTer4
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 15 101120526 101120526 A > - LINS1 ENST00000314742.8:c.431del
ENSP00000318423.8:p.Leu144TyrfsTer17
7/9594 0.00036 2 frameshift Likely pathogenic
View 16 2131781 2131782 - > T TSC2 TSC2 TSC2 NM_000548.3:c.3797dupT
NM_001114382.1:c.3797dupT
NM_001077183.1:c.3665dupT
NP_000539.2:p.Pro1267AlafsTer55
NP_001107854.1:p.Pro1267AlafsTer32
NP_001070651.1:p.Pro1223AlafsTer32
2/9594 0.0001 1 ClinVar pathogenic variant Likely pathogenic
View 16 2546994 2546994 C > G TBC1D24 TBC1D24 NM_020705.2:c.845C>G
NM_001199107.1:c.845C>G
NP_065756.1:p.Pro282Arg
NP_001186036.1:p.Pro282Arg
8/9594 0.00042 1 Likely pathogenic
View 16 3786691 3786691 A > G CREBBP CREBBP NM_001079846.1:c.4406T>C
NM_004380.2:c.4520T>C
NP_001073315.1:p.Leu1469Pro
NP_004371.2:p.Leu1507Pro
1/9594 5.0e-05 2 Likely pathogenic
View 16 5132677 5132677 A > G ALG1 NM_019109.4:c.1187+3A>G
9/11422 0.00039 1 Likely pathogenic
View 16 8906851 8906851 G > A PMM2 NM_000303.2:c.527G>A
NP_000294.1:p.Gly176Asp
3/11422 0.00013 1 Likely pathogenic
View 16 9892232 9892232 C > G GRIN2A GRIN2A GRIN2A NM_001134408.1:c.2258G>C
NM_001134407.1:c.2258G>C
NM_000833.3:c.2258G>C
NP_001127880.1:p.Gly753Ala
NP_001127879.1:p.Gly753Ala
NP_000824.1:p.Gly753Ala
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 16 9923392 9923392 G > A GRIN2A GRIN2A GRIN2A NM_001134408.1:c.1895C>T
NM_001134407.1:c.1895C>T
NM_000833.3:c.1895C>T
NP_001127880.1:p.Ser632Phe
NP_001127879.1:p.Ser632Phe
NP_000824.1:p.Ser632Phe
1/9594 5.0e-05 2 non_synonymous Likely pathogenic
View 16 14022053 14022053 T > - ERCC4 NM_005236.2:c.755del
NP_005227.1:p.Leu252TyrfsTer3
2/11422 9.0e-05 2 frameshift Likely pathogenic
View 16 23555998 23555998 G > A EARS2 EARS2 NR_003501.1:n.354C>T
NM_001083614.1:c.322C>T
NP_001077083.1:p.Arg108Trp
8/9594 0.00042 1 Likely pathogenic
View 16 31004164 31004164 A > G STX1B NM_052874.3:c.845T>C
NP_443106.1:p.Ile282Thr
5/9594 0.00026 1 non_synonymous Likely pathogenic
View 16 50745155 50745155 A > - NOD2 NM_022162.1:c.1334del
NP_071445.1:p.Lys445ArgfsTer12
2/9594 0.0001 2 frameshift Likely pathogenic
View 16 51173418 51173421 CACT > - SALL1 SALL1 NM_002968.2:c.2712_2715del
NM_001127892.1:c.2421_2424del
NP_002959.2:p.Gly906ValfsTer59
NP_001121364.1:p.Gly809ValfsTer59
2/9594 0.0001 2 frameshift Likely pathogenic
View 16 53671640 53671640 C > A RPGRIP1L RPGRIP1L NM_001127897.1:c.3085G>T
NM_015272.2:c.3187G>T
NP_001121369.1:p.Glu1029Ter
NP_056087.2:p.Glu1063Ter
2/11422 9.0e-05 2 premature_stop Likely pathogenic
View 16 56388883 56388883 A > G GNAO1 NM_020988.2:c.983A>G
NP_066268.1:p.Asp328Gly
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 16 56530925 56530925 G > A BBS2 ENST00000245157.5:c.1864C>T
ENSP00000245157.5:p.Arg622Ter
1/9594 5.0e-05 1 Likely pathogenic
View 16 75589922 75589922 G > T TMEM231 TMEM231 TMEM231 NM_001077418.2:c.139+47C>A
NM_001077416.2:c.248C>A
NR_074083.1:n.216+47C>A
NP_001070884.2:p.Ser83Ter
15/9594 0.00078 2 premature_stop Likely pathogenic
View 16 78466384 78466384 G > A WWOX NM_016373.2:c.792-1G>A
1/9594 5.0e-05 2 acceptor_site Likely pathogenic
View 16 88873798 88873798 G > A CDT1 NM_030928.3:c.1385G>A
NP_112190.2:p.Arg462Gln
2/9594 0.0001 1 Likely pathogenic
View 16 89167117 89167117 C > T ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 NR_023316.2:n.185-1895C>T
NM_174917.3:c.28C>T
NM_001127214.2:c.28C>T
NR_045666.1:n.405C>T
NM_001243279.1:c.28C>T
NP_777577.2:p.Arg10Trp
NP_001120686.1:p.Arg10Trp
NP_001230208.1:p.Arg10Trp
6/9594 0.00031 3 non_synonymous Likely pathogenic
View 16 89180844 89180844 G > A ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 NR_023316.2:n.593G>A
NM_174917.3:c.1075G>A
NM_001127214.2:c.1075G>A
NR_045666.1:n.1452G>A
NM_001243279.1:c.1075G>A
NP_777577.2:p.Glu359Lys
NP_001120686.1:p.Glu359Lys
NP_001230208.1:p.Glu359Lys
18/9594 0.00094 1 Likely pathogenic
View 16 89350772 89350775 TTTG > - ANKRD11 ANKRD11 ANKRD11 NM_013275.5:c.2175_2178del
NM_001256182.1:c.2175_2178del
NM_001256183.1:c.2175_2178del
NP_037407.4:p.Asn725LysfsTer23
NP_001243111.1:p.Asn725LysfsTer23
NP_001243112.1:p.Asn725LysfsTer23
2/9594 0.0001 1 Likely pathogenic
View 16 89809210 89809211 - > CT FANCA NM_000135.2:c.3761_3762dupAG
NP_000126.2:p.Glu1255ArgfsTer12
2/9594 0.0001 2 Likely pathogenic
View 16 89874776 89874776 C > G FANCA FANCA NM_001018112.1:c.523-1G>C
NM_000135.2:c.523-1G>C
1/9594 5.0e-05 2 acceptor_site Likely pathogenic
View 17 1674398 1674399 - > T SERPINF1 NM_002615.5:c.360dupT
NP_002606.3:p.Thr121TyrfsTer3
2/9594 0.0001 2 frameshift Likely pathogenic
View 17 3559997 3559997 G > A CTNS CTNS NM_004937.2:c.589G>A
NM_001031681.2:c.589G>A
NP_004928.2:p.Gly197Arg
NP_001026851.2:p.Gly197Arg
9/11422 0.00039 1 Likely pathogenic
View 17 7125312 7125312 G > A ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.598G>A
NM_001270447.1:c.733G>A
NM_001270448.1:c.436G>A
NM_000018.3:c.664G>A
NP_001029031.1:p.Gly200Arg
NP_001257376.1:p.Gly245Arg
NP_001257377.1:p.Gly146Arg
NP_000009.1:p.Gly222Arg
2/11422 9.0e-05 1 Likely pathogenic
View 17 8395665 8395665 G > A MYH10 MYH10 MYH10 ENST00000269243.4:c.4528C>T
ENST00000379980.4:c.4576C>T
ENST00000360416.3:c.4621C>T
ENSP00000269243.4:p.Arg1510Ter
ENSP00000369315.4:p.Arg1526Ter
ENSP00000353590.3:p.Arg1541Ter
2/9555 0.0001 2 premature_stop Likely pathogenic
View 17 12905820 12905820 G > A ELAC2 ELAC2 ELAC2 NM_173717.1:c.1156C>T
NM_001165962.1:c.1036C>T
NM_018127.6:c.1156C>T
NP_776065.1:p.Gln386Ter
NP_001159434.1:p.Gln346Ter
NP_060597.4:p.Gln386Ter
2/9594 0.0001 2 premature_stop Likely pathogenic
View 17 15142862 15142862 A > G PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 NM_000304.3:c.245T>C
NM_153322.2:c.245T>C
NR_104018.1:n.271T>C
NR_104017.1:n.371T>C
NM_153321.2:c.245T>C
NM_001281456.1:c.245T>C
NM_001281455.1:c.245T>C
NP_000295.1:p.Leu82Pro
NP_696997.1:p.Leu82Pro
NP_696996.1:p.Leu82Pro
NP_001268385.1:p.Leu82Pro
NP_001268384.1:p.Leu82Pro
2/11422 9.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 17 16843729 16843729 G > T TNFRSF13B NM_012452.2:c.542C>A
NP_036584.1:p.Ala181Glu
86/9594 0.00453 1 Likely pathogenic
View 17 17699025 17699026 - > G RAI1 NM_030665.3:c.2767dupG
NP_109590.3:p.Glu923GlyfsTer21
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 17 18202872 18202872 C > A TOP3A NM_004618.3:c.990+1G>T
2/9594 0.0001 2 donor_site Likely pathogenic
View 17 29541604 29541607 GTAA > - NF1 NF1 NF1 NM_001128147.2:c.1527+4_1527+7del
NM_000267.3:c.1527+4_1527+7del
NM_001042492.2:c.1527+4_1527+7del
1/9594 5.0e-05 1 Likely pathogenic
View 17 34893231 34893231 T > A PIGW NM_178517.3:c.281T>A
NP_848612.2:p.Leu94Ter
2/9594 0.0001 2 premature_stop Likely pathogenic
View 17 34893565 34893568 TGTT > - PIGW NM_178517.3:c.617_620del
NP_848612.2:p.Val206GlyfsTer3
3/9594 0.00016 2 frameshift Likely pathogenic
View 17 34893596 34893596 C > T PIGW NM_178517.3:c.646C>T
NP_848612.2:p.Arg216Ter
4/9594 0.00021 2 premature_stop Likely pathogenic
View 17 37844236 37844236 A > - PGAP3 NM_033419.3:c.32del
NP_219487.3:p.Leu11GlnfsTer36
1/9594 0.0001 2 frameshift Likely pathogenic
Displaying 100 through 150 of 344 variants